Incidental Mutation 'FR4304:Med12l'
| ID |
510971 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med12l
|
| Ensembl Gene |
ENSMUSG00000056476 |
| Gene Name |
mediator complex subunit 12-like |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.257)
|
| Stock # |
FR4304 ()
|
| Quality Score |
183.468 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
58913246-59226103 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
AGC to AGCGGC
at 59183403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040325]
[ENSMUST00000164225]
[ENSMUST00000199659]
|
| AlphaFold |
Q8BQM9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040325
|
| SMART Domains |
Protein: ENSMUSP00000042269
Gene: ENSMUSG00000056476
| Domain | Start | End | E-Value | Type |
|---|
|
Med12
|
101 |
161 |
1.71e-24 |
SMART |
|
low complexity region
|
216 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
|
Pfam:Med12-LCEWAV
|
282 |
730 |
2.6e-207 |
PFAM |
|
low complexity region
|
744 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
853 |
872 |
N/A |
INTRINSIC |
|
low complexity region
|
1455 |
1466 |
N/A |
INTRINSIC |
|
low complexity region
|
1728 |
1742 |
N/A |
INTRINSIC |
|
low complexity region
|
1769 |
1783 |
N/A |
INTRINSIC |
|
Pfam:Med12-PQL
|
1803 |
2029 |
2.3e-14 |
PFAM |
|
low complexity region
|
2055 |
2076 |
N/A |
INTRINSIC |
|
low complexity region
|
2083 |
2101 |
N/A |
INTRINSIC |
|
low complexity region
|
2116 |
2136 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164225
|
| SMART Domains |
Protein: ENSMUSP00000127038
Gene: ENSMUSG00000056476
| Domain | Start | End | E-Value | Type |
|---|
|
Med12
|
101 |
161 |
1.71e-24 |
SMART |
|
low complexity region
|
216 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
|
Pfam:Med12-LCEWAV
|
283 |
765 |
5e-187 |
PFAM |
|
low complexity region
|
779 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
888 |
907 |
N/A |
INTRINSIC |
|
low complexity region
|
1490 |
1501 |
N/A |
INTRINSIC |
|
low complexity region
|
1763 |
1777 |
N/A |
INTRINSIC |
|
low complexity region
|
1804 |
1818 |
N/A |
INTRINSIC |
|
Pfam:Med12-PQL
|
1840 |
2063 |
9.7e-66 |
PFAM |
|
low complexity region
|
2090 |
2111 |
N/A |
INTRINSIC |
|
low complexity region
|
2118 |
2136 |
N/A |
INTRINSIC |
|
low complexity region
|
2151 |
2171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199400
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199659
|
| SMART Domains |
Protein: ENSMUSP00000142903
Gene: ENSMUSG00000056476
| Domain | Start | End | E-Value | Type |
|---|
|
Med12
|
101 |
161 |
1.71e-24 |
SMART |
|
low complexity region
|
216 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
|
Pfam:Med12-LCEWAV
|
282 |
765 |
5.5e-209 |
PFAM |
|
low complexity region
|
779 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
888 |
907 |
N/A |
INTRINSIC |
|
low complexity region
|
1490 |
1501 |
N/A |
INTRINSIC |
|
low complexity region
|
1761 |
1775 |
N/A |
INTRINSIC |
|
low complexity region
|
1802 |
1816 |
N/A |
INTRINSIC |
|
Pfam:Med12-PQL
|
1836 |
2062 |
1.7e-15 |
PFAM |
|
low complexity region
|
2088 |
2130 |
N/A |
INTRINSIC |
|
low complexity region
|
2144 |
2164 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 96.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010]
|
| Allele List at MGI |
All alleles(4) : Targeted(3) Gene trapped(1)
|
| Other mutations in this stock |
Total: 137 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
CTT |
CTTTTT |
12: 110,634,883 (GRCm39) |
|
probably benign |
Homo |
| 1700001K19Rik |
TTC |
TTCGTC |
12: 110,634,884 (GRCm39) |
|
probably benign |
Homo |
| 4930433I11Rik |
ACCTC |
AC |
7: 40,642,480 (GRCm39) |
|
probably benign |
Het |
| 4930447C04Rik |
AAGT |
A |
12: 72,928,061 (GRCm39) |
|
probably benign |
Homo |
| Acbd4 |
CAG |
CAGACTAG |
11: 102,994,931 (GRCm39) |
|
probably null |
Homo |
| Ahdc1 |
CT |
CTCTT |
4: 132,790,070 (GRCm39) |
|
probably benign |
Homo |
| Alpk3 |
TCT |
TCTGCT |
7: 80,727,510 (GRCm39) |
|
probably benign |
Het |
| Anapc4 |
C |
T |
5: 53,021,868 (GRCm39) |
T650M |
probably damaging |
Homo |
| Ankhd1 |
GGCGGC |
GGCGGCTGCGGC |
18: 36,693,977 (GRCm39) |
|
probably benign |
Het |
| Ankrd35 |
TAGC |
TAGCAGC |
3: 96,591,163 (GRCm39) |
|
probably benign |
Homo |
| Apc |
GCCAATAAA |
GCCAATAAAACCAATAAA |
18: 34,415,050 (GRCm39) |
|
probably benign |
Het |
| Apol6 |
TTGT |
TTGTCTGT |
15: 76,935,636 (GRCm39) |
|
probably null |
Het |
| Arhgap30 |
TGGCCC |
TGGCCCTGGCCCAGGCCTTGGCCCCGGCCC |
1: 171,232,736 (GRCm39) |
|
probably benign |
Het |
| Arpc1b |
GCC |
GCCTGTCC |
5: 145,063,601 (GRCm39) |
|
probably null |
Het |
| Blm |
CT |
CTACGT |
7: 80,113,521 (GRCm39) |
|
probably null |
Homo |
| Blm |
TCCTCCTCCTCC |
TCCTCCTCCTCCACCTCCTCCTCC |
7: 80,162,667 (GRCm39) |
|
probably benign |
Het |
| Btnl10 |
GA |
GAATA |
11: 58,814,756 (GRCm39) |
|
probably benign |
Homo |
| Cacna1f |
AGG |
AGGCGG |
X: 7,486,300 (GRCm39) |
|
probably benign |
Het |
| Calhm3 |
CG |
CGG |
19: 47,140,335 (GRCm39) |
|
probably null |
Homo |
| Catsper2 |
C |
CTTTTACTTTTTA |
2: 121,228,023 (GRCm39) |
|
probably null |
Homo |
| Catsper2 |
CAT |
CATTAT |
2: 121,228,263 (GRCm39) |
|
probably benign |
Het |
| Ccdc121 |
GAGAAG |
GAG |
5: 31,644,717 (GRCm39) |
|
probably benign |
Homo |
| Ccdc15 |
AC |
ACTTTCC |
9: 37,226,453 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
T |
C |
10: 41,432,117 (GRCm39) |
D1792G |
possibly damaging |
Het |
| Ccdc170 |
CCA |
CCATCA |
10: 4,511,021 (GRCm39) |
|
probably benign |
Het |
| Ccdc73 |
TAAG |
T |
2: 104,822,185 (GRCm39) |
|
probably benign |
Homo |
| Ccdc85c |
GCC |
GCCCCC |
12: 108,240,871 (GRCm39) |
|
probably benign |
Het |
| Cd22 |
C |
T |
7: 30,577,507 (GRCm39) |
R2H |
possibly damaging |
Het |
| Cd80 |
AGA |
AGAGGA |
16: 38,306,677 (GRCm39) |
|
probably benign |
Homo |
| Cep89 |
GACT |
G |
7: 35,109,066 (GRCm39) |
|
probably benign |
Het |
| Cfap74 |
A |
G |
4: 155,500,217 (GRCm39) |
D21G |
possibly damaging |
Homo |
| Cgref1 |
T |
TCTA |
5: 31,091,124 (GRCm39) |
|
probably benign |
Homo |
| Chd4 |
GCC |
GCCACTCCC |
6: 125,099,107 (GRCm39) |
|
probably benign |
Het |
| Cnpy3 |
TCC |
TCCCCC |
17: 47,047,669 (GRCm39) |
|
probably benign |
Het |
| Cnpy3 |
TCC |
TCCACC |
17: 47,047,672 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
AGCCCC |
AGCCCCCGCCCC |
11: 101,080,407 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
CCCCAG |
CCCCAGACCCAG |
11: 101,080,415 (GRCm39) |
|
probably benign |
Het |
| Col2a1 |
C |
A |
15: 97,886,862 (GRCm39) |
|
probably null |
Homo |
| Cpeb4 |
T |
TGA |
11: 31,877,638 (GRCm39) |
|
probably benign |
Homo |
| Cpne1 |
AGA |
AGAGAGA |
2: 155,913,945 (GRCm39) |
|
probably null |
Homo |
| Cttnbp2 |
ATTGCTG |
ATTGCTGTTGCTG |
6: 18,367,457 (GRCm39) |
|
probably benign |
Het |
| Dhx37 |
CTGG |
C |
5: 125,504,594 (GRCm39) |
|
probably benign |
Het |
| Dhx8 |
CGAGAC |
CGAGACGGAGAC |
11: 101,629,014 (GRCm39) |
|
probably benign |
Homo |
| Dnaaf9 |
TCC |
TCCCCC |
2: 130,612,668 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,571,342 (GRCm39) |
G2817V |
probably damaging |
Homo |
| Dst |
C |
A |
1: 34,240,045 (GRCm39) |
S1798Y |
probably damaging |
Het |
| Eif3a |
TA |
TATTTCA |
19: 60,763,728 (GRCm39) |
|
probably benign |
Homo |
| Ermn |
TTC |
TTCCTC |
2: 57,938,090 (GRCm39) |
|
probably benign |
Het |
| Ermn |
CTT |
CTTGTT |
2: 57,938,098 (GRCm39) |
|
probably benign |
Het |
| Fbxo43 |
TGTGCC |
TGTGCCAGTGCC |
15: 36,152,243 (GRCm39) |
|
probably benign |
Het |
| Fbxo43 |
GCCTGT |
GCCTGTCCCTGT |
15: 36,152,246 (GRCm39) |
|
probably benign |
Het |
| Fbxo43 |
GCCTGT |
GCCTGTTCCTGT |
15: 36,152,240 (GRCm39) |
|
probably benign |
Het |
| Fmn1 |
TCC |
TCCTCCACC |
2: 113,356,128 (GRCm39) |
|
probably benign |
Homo |
| Fmn1 |
TCCTCC |
TCCTCCCCCTCC |
2: 113,356,119 (GRCm39) |
|
probably benign |
Het |
| Foxd3 |
GGACCCTACGGCCG |
GG |
4: 99,545,633 (GRCm39) |
|
probably benign |
Homo |
| Frmpd2 |
G |
T |
14: 33,232,978 (GRCm39) |
L399F |
probably damaging |
Homo |
| Gabre |
ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC |
ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC |
X: 71,313,648 (GRCm39) |
|
probably benign |
Homo |
| Gbp2b |
A |
G |
3: 142,309,413 (GRCm39) |
I175V |
probably benign |
Het |
| Gm4340 |
CAG |
CAGAAG |
10: 104,031,933 (GRCm39) |
|
probably benign |
Het |
| Gm4340 |
AGC |
AGCGGC |
10: 104,031,943 (GRCm39) |
|
probably benign |
Het |
| Gm5114 |
T |
C |
7: 39,060,529 (GRCm39) |
R107G |
probably benign |
Het |
| Gm5114 |
A |
C |
7: 39,060,530 (GRCm39) |
H106Q |
probably benign |
Het |
| H1f6 |
GAGAA |
GA |
13: 23,879,903 (GRCm39) |
|
probably benign |
Homo |
| H2-Q4 |
G |
A |
17: 35,599,381 (GRCm39) |
D155N |
probably damaging |
Het |
| H2-T10 |
TGTTTCCCACTG |
T |
17: 36,431,173 (GRCm39) |
|
probably null |
Het |
| Ifi203 |
C |
T |
1: 173,755,894 (GRCm39) |
|
probably benign |
Het |
| Ifi208 |
ATGGTG |
ATG |
1: 173,505,264 (GRCm39) |
|
probably benign |
Homo |
| Ighv5-9 |
C |
T |
12: 113,625,497 (GRCm39) |
S82N |
probably benign |
Homo |
| Il17rd |
CGG |
CGGTGG |
14: 26,804,637 (GRCm39) |
|
probably benign |
Het |
| Il2 |
AGTGG |
AGTGGGGCTTGAGGTGG |
3: 37,179,975 (GRCm39) |
|
probably benign |
Het |
| Ipo9 |
TCC |
TCCGCC |
1: 135,314,013 (GRCm39) |
|
probably benign |
Het |
| Ipo9 |
CCT |
CCTACT |
1: 135,314,017 (GRCm39) |
|
probably null |
Het |
| Isg20l2 |
AAG |
AAGCAG |
3: 87,839,019 (GRCm39) |
|
probably benign |
Homo |
| Kmt2b |
TCCTCC |
TCCTCCCCCTCC |
7: 30,285,788 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
TGCTGCTG |
TGCTGCTGCTGCTG |
5: 25,520,764 (GRCm39) |
|
probably benign |
Homo |
| Krt10 |
CGCC |
CGCCGCC |
11: 99,277,025 (GRCm39) |
|
probably benign |
Het |
| Krt10 |
CCTCCT |
CCTCCTACTCCT |
11: 99,280,100 (GRCm39) |
|
probably benign |
Het |
| Las1l |
GAG |
GAGCAG |
X: 94,984,426 (GRCm39) |
|
probably benign |
Het |
| Las1l |
AGG |
AGGCGG |
X: 94,984,427 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCATCTCCAGCTCCAGCTCCAGCTCCA |
2: 181,339,372 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
A |
T |
14: 75,057,005 (GRCm39) |
C241S |
possibly damaging |
Het |
| Lrit3 |
G |
GCTT |
3: 129,582,468 (GRCm39) |
|
probably benign |
Het |
| Maml2 |
GCAGCAGCAACAGCAGCA |
GCAGCAGCA |
9: 13,532,755 (GRCm39) |
|
probably benign |
Homo |
| Mast4 |
T |
TTTC |
13: 102,871,370 (GRCm39) |
|
probably benign |
Het |
| Muc21 |
T |
G |
17: 35,933,013 (GRCm39) |
|
probably benign |
Homo |
| Noc2l |
TGC |
TGCAGC |
4: 156,324,553 (GRCm39) |
|
probably benign |
Het |
| Nrg3 |
G |
GACATTT |
14: 38,119,230 (GRCm39) |
|
probably benign |
Homo |
| Or51q1 |
TCC |
TCCC |
7: 103,629,110 (GRCm39) |
|
probably null |
Het |
| Padi3 |
TCTCAC |
TC |
4: 140,520,283 (GRCm39) |
|
probably benign |
Homo |
| Patl2 |
GCT |
GCTTCT |
2: 121,956,616 (GRCm39) |
|
probably benign |
Het |
| Pdik1l |
TTTT |
TTTTGTTTTTGGTTT |
4: 134,006,685 (GRCm39) |
|
probably null |
Homo |
| Pik3c2g |
AG |
AGAGGG |
6: 139,612,654 (GRCm39) |
|
probably null |
Homo |
| Plekhs1 |
T |
TTCAGACCTCCCC |
19: 56,468,290 (GRCm39) |
|
probably benign |
Het |
| Prkd3 |
G |
T |
17: 79,283,249 (GRCm39) |
|
probably null |
Homo |
| Prkn |
G |
A |
17: 12,073,650 (GRCm39) |
V323M |
probably damaging |
Het |
| Prr13 |
TCC |
TCCCCC |
15: 102,370,612 (GRCm39) |
|
probably benign |
Homo |
| Prrc2b |
G |
A |
2: 32,111,179 (GRCm39) |
A1852T |
probably damaging |
Homo |
| Ptms |
CTT |
CTTTTT |
6: 124,891,421 (GRCm39) |
|
probably benign |
Homo |
| Rtl1 |
TTCCTCTTCCTCCTC |
TTCCTC |
12: 109,557,632 (GRCm39) |
|
probably benign |
Homo |
| Scaf4 |
TGCGGC |
TGC |
16: 90,026,742 (GRCm39) |
|
probably benign |
Homo |
| Serac1 |
T |
A |
17: 6,121,083 (GRCm39) |
K70N |
probably damaging |
Homo |
| Six3 |
CGG |
CGGTGG |
17: 85,928,796 (GRCm39) |
|
probably benign |
Het |
| Sry |
GTG |
GTGCTG |
Y: 2,662,837 (GRCm39) |
|
probably benign |
Homo |
| Stard8 |
GGAAGA |
GGAAGAAGA |
X: 98,110,111 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
TTCAGCA |
TTCAGCATCAGCA |
3: 54,635,068 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
CAGCAG |
CAGCAGTAGCAG |
3: 54,635,085 (GRCm39) |
|
probably null |
Het |
| Supt20 |
AGCAGC |
AGCAGCGGCAGC |
3: 54,635,083 (GRCm39) |
|
probably benign |
Het |
| Sytl1 |
CTCT |
C |
4: 132,984,304 (GRCm39) |
|
probably benign |
Homo |
| Tcof1 |
AGC |
AGCGGC |
18: 60,968,814 (GRCm39) |
|
probably benign |
Het |
| Tdpoz2 |
T |
TCA |
3: 93,558,922 (GRCm39) |
|
probably null |
Homo |
| Tert |
GCC |
GCCAAGGGTTCC |
13: 73,796,421 (GRCm39) |
|
probably benign |
Homo |
| Tfeb |
GCA |
GCAACA |
17: 48,097,019 (GRCm39) |
|
probably benign |
Het |
| Ticrr |
ATT |
ATTTTT |
7: 79,344,059 (GRCm39) |
|
probably benign |
Homo |
| Tnfaip8 |
ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
AC |
18: 50,179,906 (GRCm39) |
|
probably null |
Homo |
| Tnfrsf9 |
T |
TGCC |
4: 151,018,852 (GRCm39) |
|
probably benign |
Homo |
| Tob1 |
GCA |
GCAACA |
11: 94,105,290 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
CA |
CAGTA |
11: 94,105,303 (GRCm39) |
|
probably null |
Het |
| Trav15-2-dv6-2 |
GGGAG |
GGGAGGAG |
14: 53,887,207 (GRCm39) |
|
probably benign |
Homo |
| Triobp |
TCGTCG |
TCGTCGTCG |
15: 78,877,587 (GRCm39) |
|
probably benign |
Homo |
| Tsbp1 |
A |
AGCC |
17: 34,679,029 (GRCm39) |
|
probably benign |
Het |
| Tsbp1 |
GC |
GCATC |
17: 34,679,051 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
AGG |
AGGGGG |
6: 115,537,030 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
TCC |
TCCGCC |
11: 102,197,782 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
CTCGTCGTC |
CTCGTCGTCGTC |
11: 102,197,784 (GRCm39) |
|
probably benign |
Het |
| Vars1 |
TGG |
TGGAGTCCTGGGCGG |
17: 35,234,965 (GRCm39) |
|
probably benign |
Homo |
| Vmn1r171 |
C |
T |
7: 23,332,105 (GRCm39) |
A110V |
probably benign |
Het |
| Vmn2r31 |
G |
T |
7: 7,387,607 (GRCm39) |
Q655K |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,314,583 (GRCm39) |
M334I |
probably benign |
Homo |
| Zc3h13 |
CG |
CGAGATGTGTG |
14: 75,561,050 (GRCm39) |
|
probably benign |
Het |
| Zc3h13 |
AGATGTGCG |
AGATGTGCGGGATGTGCG |
14: 75,561,043 (GRCm39) |
|
probably benign |
Het |
| Zfp282 |
GGC |
GGCCGC |
6: 47,881,731 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
AGGC |
AGGCCCAGGCCCCGGC |
6: 125,013,456 (GRCm39) |
|
probably benign |
Het |
| Zfp459 |
TGA |
TGAGCGA |
13: 67,556,393 (GRCm39) |
|
probably null |
Homo |
| Zfp462 |
GCCACC |
GCCACCTCAGCCACAACCACC |
4: 55,009,757 (GRCm39) |
|
probably benign |
Het |
| Zfp462 |
CCACC |
CCACCTCAGCCACAGTCACC |
4: 55,009,758 (GRCm39) |
|
probably benign |
Het |
| Zfp598 |
CACCAC |
CACCACAACCAC |
17: 24,899,749 (GRCm39) |
|
probably benign |
Het |
| Zfp831 |
CCT |
CCTGCT |
2: 174,487,274 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Med12l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Med12l
|
APN |
3 |
58,949,757 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00561:Med12l
|
APN |
3 |
59,135,245 (GRCm39) |
missense |
probably benign |
|
|
IGL00974:Med12l
|
APN |
3 |
58,990,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01024:Med12l
|
APN |
3 |
58,980,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01094:Med12l
|
APN |
3 |
59,001,076 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01134:Med12l
|
APN |
3 |
58,949,696 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01535:Med12l
|
APN |
3 |
59,169,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01653:Med12l
|
APN |
3 |
59,169,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01735:Med12l
|
APN |
3 |
59,170,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01972:Med12l
|
APN |
3 |
59,169,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02005:Med12l
|
APN |
3 |
59,152,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02098:Med12l
|
APN |
3 |
59,183,276 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02115:Med12l
|
APN |
3 |
58,975,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02231:Med12l
|
APN |
3 |
59,153,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02259:Med12l
|
APN |
3 |
59,153,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02369:Med12l
|
APN |
3 |
59,164,794 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02424:Med12l
|
APN |
3 |
59,000,143 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02501:Med12l
|
APN |
3 |
59,169,397 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02525:Med12l
|
APN |
3 |
58,975,789 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02530:Med12l
|
APN |
3 |
58,984,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02735:Med12l
|
APN |
3 |
59,001,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02865:Med12l
|
APN |
3 |
59,201,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03183:Med12l
|
APN |
3 |
58,944,976 (GRCm39) |
splice site |
probably null |
|
|
IGL03264:Med12l
|
APN |
3 |
59,208,788 (GRCm39) |
nonsense |
probably null |
|
|
FR4340:Med12l
|
UTSW |
3 |
59,183,406 (GRCm39) |
small insertion |
probably benign |
|
|
FR4342:Med12l
|
UTSW |
3 |
59,183,415 (GRCm39) |
small insertion |
probably benign |
|
|
FR4342:Med12l
|
UTSW |
3 |
59,183,409 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Med12l
|
UTSW |
3 |
59,183,384 (GRCm39) |
nonsense |
probably null |
|
|
FR4548:Med12l
|
UTSW |
3 |
59,183,403 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Med12l
|
UTSW |
3 |
59,183,377 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Med12l
|
UTSW |
3 |
59,183,398 (GRCm39) |
small insertion |
probably benign |
|
|
P0007:Med12l
|
UTSW |
3 |
58,998,816 (GRCm39) |
splice site |
probably benign |
|
|
P0045:Med12l
|
UTSW |
3 |
58,998,956 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0030:Med12l
|
UTSW |
3 |
59,156,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0030:Med12l
|
UTSW |
3 |
59,156,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Med12l
|
UTSW |
3 |
58,945,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Med12l
|
UTSW |
3 |
58,984,480 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0330:Med12l
|
UTSW |
3 |
59,135,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0388:Med12l
|
UTSW |
3 |
59,000,925 (GRCm39) |
splice site |
probably benign |
|
|
R0542:Med12l
|
UTSW |
3 |
58,949,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0624:Med12l
|
UTSW |
3 |
58,945,123 (GRCm39) |
nonsense |
probably null |
|
|
R0625:Med12l
|
UTSW |
3 |
59,154,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Med12l
|
UTSW |
3 |
59,172,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0706:Med12l
|
UTSW |
3 |
59,169,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0785:Med12l
|
UTSW |
3 |
59,168,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1054:Med12l
|
UTSW |
3 |
59,156,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1102:Med12l
|
UTSW |
3 |
59,152,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1391:Med12l
|
UTSW |
3 |
58,945,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1501:Med12l
|
UTSW |
3 |
59,168,256 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1544:Med12l
|
UTSW |
3 |
59,172,661 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1662:Med12l
|
UTSW |
3 |
59,001,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1670:Med12l
|
UTSW |
3 |
59,183,379 (GRCm39) |
small insertion |
probably benign |
|
|
R1839:Med12l
|
UTSW |
3 |
58,975,740 (GRCm39) |
missense |
probably benign |
|
|
R1854:Med12l
|
UTSW |
3 |
59,168,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2045:Med12l
|
UTSW |
3 |
59,169,731 (GRCm39) |
nonsense |
probably null |
|
|
R2070:Med12l
|
UTSW |
3 |
59,152,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Med12l
|
UTSW |
3 |
59,172,703 (GRCm39) |
splice site |
probably null |
|
|
R2290:Med12l
|
UTSW |
3 |
59,152,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2325:Med12l
|
UTSW |
3 |
59,139,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2352:Med12l
|
UTSW |
3 |
59,148,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Med12l
|
UTSW |
3 |
59,205,259 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2906:Med12l
|
UTSW |
3 |
59,164,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3735:Med12l
|
UTSW |
3 |
58,998,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3736:Med12l
|
UTSW |
3 |
58,998,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3774:Med12l
|
UTSW |
3 |
59,155,363 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3957:Med12l
|
UTSW |
3 |
58,980,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4020:Med12l
|
UTSW |
3 |
59,155,363 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4087:Med12l
|
UTSW |
3 |
59,205,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4231:Med12l
|
UTSW |
3 |
59,164,644 (GRCm39) |
splice site |
probably null |
|
|
R4233:Med12l
|
UTSW |
3 |
59,164,644 (GRCm39) |
splice site |
probably null |
|
|
R4235:Med12l
|
UTSW |
3 |
59,164,644 (GRCm39) |
splice site |
probably null |
|
|
R4236:Med12l
|
UTSW |
3 |
59,164,644 (GRCm39) |
splice site |
probably null |
|
|
R4327:Med12l
|
UTSW |
3 |
59,172,688 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4328:Med12l
|
UTSW |
3 |
59,172,688 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4346:Med12l
|
UTSW |
3 |
58,938,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4543:Med12l
|
UTSW |
3 |
58,998,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4559:Med12l
|
UTSW |
3 |
58,914,523 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4776:Med12l
|
UTSW |
3 |
59,140,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4877:Med12l
|
UTSW |
3 |
59,152,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4983:Med12l
|
UTSW |
3 |
59,169,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5114:Med12l
|
UTSW |
3 |
59,167,109 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5125:Med12l
|
UTSW |
3 |
59,174,635 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5230:Med12l
|
UTSW |
3 |
59,153,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5407:Med12l
|
UTSW |
3 |
59,165,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5426:Med12l
|
UTSW |
3 |
59,156,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5439:Med12l
|
UTSW |
3 |
59,170,634 (GRCm39) |
missense |
probably null |
1.00 |
|
R5449:Med12l
|
UTSW |
3 |
59,167,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5596:Med12l
|
UTSW |
3 |
59,159,771 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5716:Med12l
|
UTSW |
3 |
59,208,798 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5833:Med12l
|
UTSW |
3 |
59,172,647 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5883:Med12l
|
UTSW |
3 |
58,998,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6264:Med12l
|
UTSW |
3 |
59,163,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6269:Med12l
|
UTSW |
3 |
59,135,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6394:Med12l
|
UTSW |
3 |
59,142,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6400:Med12l
|
UTSW |
3 |
59,155,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6475:Med12l
|
UTSW |
3 |
59,164,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6489:Med12l
|
UTSW |
3 |
59,164,828 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6654:Med12l
|
UTSW |
3 |
59,169,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6881:Med12l
|
UTSW |
3 |
59,174,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7110:Med12l
|
UTSW |
3 |
59,169,645 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7134:Med12l
|
UTSW |
3 |
59,001,180 (GRCm39) |
nonsense |
probably null |
|
|
R7137:Med12l
|
UTSW |
3 |
59,165,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7159:Med12l
|
UTSW |
3 |
59,183,438 (GRCm39) |
missense |
probably benign |
|
|
R7341:Med12l
|
UTSW |
3 |
58,949,824 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7349:Med12l
|
UTSW |
3 |
59,165,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7413:Med12l
|
UTSW |
3 |
58,998,971 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7495:Med12l
|
UTSW |
3 |
59,152,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7678:Med12l
|
UTSW |
3 |
58,984,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7697:Med12l
|
UTSW |
3 |
59,148,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7714:Med12l
|
UTSW |
3 |
59,001,007 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7725:Med12l
|
UTSW |
3 |
59,163,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7846:Med12l
|
UTSW |
3 |
59,172,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7852:Med12l
|
UTSW |
3 |
59,155,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8080:Med12l
|
UTSW |
3 |
59,172,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8181:Med12l
|
UTSW |
3 |
59,169,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8223:Med12l
|
UTSW |
3 |
58,993,784 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8560:Med12l
|
UTSW |
3 |
58,945,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8708:Med12l
|
UTSW |
3 |
59,159,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8865:Med12l
|
UTSW |
3 |
58,979,303 (GRCm39) |
missense |
probably benign |
|
|
R8947:Med12l
|
UTSW |
3 |
58,984,443 (GRCm39) |
splice site |
probably benign |
|
|
R8976:Med12l
|
UTSW |
3 |
59,183,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9016:Med12l
|
UTSW |
3 |
59,163,294 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9183:Med12l
|
UTSW |
3 |
58,984,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9487:Med12l
|
UTSW |
3 |
59,155,353 (GRCm39) |
missense |
probably benign |
|
|
R9526:Med12l
|
UTSW |
3 |
58,984,207 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9802:Med12l
|
UTSW |
3 |
59,169,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF004:Med12l
|
UTSW |
3 |
59,183,390 (GRCm39) |
small insertion |
probably benign |
|
|
RF011:Med12l
|
UTSW |
3 |
59,183,401 (GRCm39) |
small insertion |
probably benign |
|
|
RF013:Med12l
|
UTSW |
3 |
59,183,387 (GRCm39) |
small insertion |
probably benign |
|
|
RF020:Med12l
|
UTSW |
3 |
59,183,379 (GRCm39) |
small insertion |
probably benign |
|
|
RF021:Med12l
|
UTSW |
3 |
58,980,711 (GRCm39) |
missense |
probably benign |
0.19 |
|
RF027:Med12l
|
UTSW |
3 |
59,183,402 (GRCm39) |
small insertion |
probably benign |
|
|
RF027:Med12l
|
UTSW |
3 |
59,183,388 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Med12l
|
UTSW |
3 |
59,183,410 (GRCm39) |
small insertion |
probably benign |
|
|
RF032:Med12l
|
UTSW |
3 |
59,183,410 (GRCm39) |
small insertion |
probably benign |
|
|
RF032:Med12l
|
UTSW |
3 |
59,183,406 (GRCm39) |
small insertion |
probably benign |
|
|
RF032:Med12l
|
UTSW |
3 |
59,183,402 (GRCm39) |
small insertion |
probably benign |
|
|
RF033:Med12l
|
UTSW |
3 |
59,183,416 (GRCm39) |
small insertion |
probably benign |
|
|
RF033:Med12l
|
UTSW |
3 |
59,183,408 (GRCm39) |
small insertion |
probably benign |
|
|
RF033:Med12l
|
UTSW |
3 |
59,183,402 (GRCm39) |
small insertion |
probably benign |
|
|
RF037:Med12l
|
UTSW |
3 |
59,183,377 (GRCm39) |
small insertion |
probably benign |
|
|
RF040:Med12l
|
UTSW |
3 |
59,183,410 (GRCm39) |
small insertion |
probably benign |
|
|
RF040:Med12l
|
UTSW |
3 |
59,183,388 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Med12l
|
UTSW |
3 |
59,183,416 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Med12l
|
UTSW |
3 |
59,183,406 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:Med12l
|
UTSW |
3 |
59,183,402 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:Med12l
|
UTSW |
3 |
59,183,388 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:Med12l
|
UTSW |
3 |
59,183,377 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:Med12l
|
UTSW |
3 |
59,183,416 (GRCm39) |
small insertion |
probably benign |
|
|
RF049:Med12l
|
UTSW |
3 |
59,183,390 (GRCm39) |
small insertion |
probably benign |
|
|
RF050:Med12l
|
UTSW |
3 |
59,183,394 (GRCm39) |
small insertion |
probably benign |
|
|
RF053:Med12l
|
UTSW |
3 |
59,183,414 (GRCm39) |
small insertion |
probably benign |
|
|
RF055:Med12l
|
UTSW |
3 |
59,183,404 (GRCm39) |
small insertion |
probably benign |
|
|
RF056:Med12l
|
UTSW |
3 |
59,183,414 (GRCm39) |
small insertion |
probably benign |
|
|
RF057:Med12l
|
UTSW |
3 |
59,183,401 (GRCm39) |
small insertion |
probably benign |
|
|
RF063:Med12l
|
UTSW |
3 |
59,183,394 (GRCm39) |
small insertion |
probably benign |
|
|
RF063:Med12l
|
UTSW |
3 |
59,183,379 (GRCm39) |
small insertion |
probably benign |
|
|
X0062:Med12l
|
UTSW |
3 |
59,140,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Med12l
|
UTSW |
3 |
59,203,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Med12l
|
UTSW |
3 |
59,152,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Med12l
|
UTSW |
3 |
58,998,838 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Med12l
|
UTSW |
3 |
59,155,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTAGGTGGCTCCCGATTG -3'
(R):5'- GAGAGTCCTTAGCACTTTGGGC -3'
Sequencing Primer
(F):5'- TCCCGATTGGACCCTGC -3'
(R):5'- GGGCTTCTTCCCAAGATCAATAATG -3'
|
| Posted On |
2018-04-05 |
Incidental Mutation