Incidental Mutation 'FR4589:Med12l'
| ID |
511325 |
| 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 # |
FR4589 ()
|
| Quality Score |
150.467 |
|
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) |
GCAACA to GCAACAACA
at 59183377 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: 99.5%
- 10x: 98.4%
- 20x: 96.1%
|
| 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: 126 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 7530416G11Rik |
T |
A |
15: 85,378,508 (GRCm39) |
E45V |
unknown |
Homo |
| A530064D06Rik |
GTAGGAAGCTTAG |
GTAG |
17: 48,470,549 (GRCm39) |
|
probably benign |
Homo |
| Anxa2 |
C |
CCCA |
9: 69,387,492 (GRCm39) |
|
probably benign |
Het |
| Apol6 |
GTTT |
GTTTTTTT |
15: 76,935,638 (GRCm39) |
|
probably null |
Het |
| Arrb2 |
C |
T |
11: 70,329,497 (GRCm39) |
T269M |
probably damaging |
Homo |
| AY761185 |
CACTGTGGG |
C |
8: 21,433,919 (GRCm39) |
|
probably null |
Het |
| Bcas3 |
G |
A |
11: 85,400,323 (GRCm39) |
V431I |
probably benign |
Homo |
| Blm |
TACC |
TACCGACC |
7: 80,113,518 (GRCm39) |
|
probably null |
Het |
| Btnl10 |
AGA |
AGAGGA |
11: 58,814,755 (GRCm39) |
|
probably benign |
Homo |
| Btnl4 |
T |
A |
17: 34,691,610 (GRCm39) |
K293M |
probably benign |
Het |
| Catsper2 |
TGTC |
TGTCGTC |
2: 121,228,260 (GRCm39) |
|
probably benign |
Het |
| Ccdc121 |
GAGAAG |
GAG |
5: 31,644,717 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
ATTTAT |
ATTTATTTATTTCTTTAT |
9: 78,619,811 (GRCm39) |
|
probably benign |
Het |
| Cd164 |
G |
T |
10: 41,397,922 (GRCm39) |
A59S |
probably benign |
Homo |
| Cd22 |
C |
T |
7: 30,577,507 (GRCm39) |
R2H |
possibly damaging |
Homo |
| Chd4 |
C |
T |
6: 125,099,096 (GRCm39) |
P1597L |
probably benign |
Homo |
| Chd4 |
CCCCTGCCCCTGCCACTGCCCCTGCC |
CCCCTGCCCCTGCCCCTGCCACTGCCCCTGCC |
6: 125,099,102 (GRCm39) |
|
probably benign |
Homo |
| Chga |
AGC |
AGCTGC |
12: 102,527,661 (GRCm39) |
|
probably benign |
Het |
| Cluh |
AGCC |
AGCCTGGGCC |
11: 74,560,357 (GRCm39) |
|
probably benign |
Het |
| Cnpy3 |
ACCC |
ACCCCCC |
17: 47,047,665 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
CCCAGC |
CCCAGCTCCAGC |
11: 101,080,392 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
AGCCCC |
AGCCCCCGCCCC |
11: 101,080,407 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
CAGCCC |
CAGCCCGAGCCC |
11: 101,080,406 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
AGCCCC |
AGCCCCCGCCCC |
11: 101,080,401 (GRCm39) |
|
probably benign |
Het |
| Col2a1 |
C |
A |
15: 97,886,862 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
A |
T |
9: 105,811,373 (GRCm39) |
N715K |
unknown |
Homo |
| Cttnbp2 |
ATT |
ATTTCTGTT |
6: 18,367,457 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
AGGAGG |
AGGAGGGGGAGG |
9: 99,465,730 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
AGGAGG |
AGGAGGGGGAGG |
9: 99,465,733 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
AGGAGG |
AGGAGGCGGAGG |
9: 99,465,736 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GGAGGA |
GGAGGAAGAGGA |
9: 99,465,749 (GRCm39) |
|
probably benign |
Het |
| Dclre1a |
AGGCTTTG |
AG |
19: 56,532,555 (GRCm39) |
|
probably benign |
Het |
| Dcpp1 |
A |
C |
17: 24,100,428 (GRCm39) |
K53Q |
probably benign |
Het |
| Dhx8 |
CGAGAC |
CGAGACAGAGAC |
11: 101,629,014 (GRCm39) |
|
probably benign |
Homo |
| Dnaaf9 |
CC |
CCTGC |
2: 130,612,672 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
TCC |
TCCCCC |
2: 130,612,665 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,571,342 (GRCm39) |
G2817V |
probably damaging |
Homo |
| Dthd1 |
C |
CTT |
5: 63,000,369 (GRCm39) |
|
probably null |
Homo |
| Efhd2 |
GCCGCC |
GCCGCCTCCGCC |
4: 141,602,075 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
AC |
ACTCGC |
6: 137,494,067 (GRCm39) |
|
probably null |
Het |
| Ermn |
TTC |
TTCATC |
2: 57,938,081 (GRCm39) |
|
probably benign |
Het |
| Fam81b |
TC |
TCTCC |
13: 76,419,442 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
TG |
TGCGTGTGCTGGCG |
5: 110,526,016 (GRCm39) |
|
probably benign |
Het |
| Fbxo43 |
CCTGTG |
CCTGTGTCTGTG |
15: 36,152,247 (GRCm39) |
|
probably benign |
Het |
| Fbxo43 |
GCCTGT |
GCCTGTTCCTGT |
15: 36,152,246 (GRCm39) |
|
probably benign |
Het |
| Fmn1 |
CTCCTC |
CTCCTCTTCCTC |
2: 113,356,118 (GRCm39) |
|
probably benign |
Het |
| Fmn1 |
TCCTCC |
TCCTCCCCCTCC |
2: 113,356,119 (GRCm39) |
|
probably benign |
Het |
| Frmpd2 |
G |
T |
14: 33,232,978 (GRCm39) |
L399F |
probably damaging |
Homo |
| Gabre |
GCTCCGACTCCGACTCCG |
GCTCCGACTCCGACTCCGACTCCG |
X: 71,313,636 (GRCm39) |
|
probably benign |
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 |
AG |
AGCCG |
10: 104,031,961 (GRCm39) |
|
probably benign |
Het |
| Gm4340 |
CAG |
CAGTAG |
10: 104,031,939 (GRCm39) |
|
probably null |
Het |
| Gm4340 |
AGC |
AGCCGC |
10: 104,031,940 (GRCm39) |
|
probably benign |
Het |
| H2-Q4 |
G |
A |
17: 35,599,381 (GRCm39) |
D155N |
probably damaging |
Het |
| Ighv5-9 |
C |
T |
12: 113,625,497 (GRCm39) |
S82N |
probably benign |
Homo |
| Ipo9 |
TCC |
TCCCCC |
1: 135,314,019 (GRCm39) |
|
probably benign |
Het |
| Ipo9 |
CCATC |
CCATCATC |
1: 135,314,004 (GRCm39) |
|
probably benign |
Het |
| Isg20l2 |
GAAA |
GAAAAAA |
3: 87,839,024 (GRCm39) |
|
probably benign |
Homo |
| Klra9 |
C |
G |
6: 130,159,366 (GRCm39) |
D216H |
probably benign |
Het |
| Kmt2b |
TCC |
TCCTCCGCC |
7: 30,285,806 (GRCm39) |
|
probably benign |
Het |
| Kmt2b |
CCTCCT |
CCTCCTGCTCCT |
7: 30,285,786 (GRCm39) |
|
probably benign |
Het |
| Kmt2b |
CCTCCT |
CCTCCTACTCCT |
7: 30,285,789 (GRCm39) |
|
probably null |
Het |
| Krt10 |
TCC |
TCCGCCGCC |
11: 99,280,102 (GRCm39) |
|
probably benign |
Het |
| Las1l |
TC |
TCTTCCAC |
X: 94,984,231 (GRCm39) |
|
probably benign |
Het |
| Las1l |
TCTTCC |
TCTTCCGCTTCC |
X: 94,984,225 (GRCm39) |
|
probably benign |
Het |
| Las1l |
TTCCTCCTCCTC |
TTCCTC |
X: 94,984,227 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
TGCTGCCACC |
TGCTGCCACCACGGCTGCCACC |
3: 92,925,575 (GRCm39) |
|
probably benign |
Homo |
| Loricrin |
GCCGCCGCC |
GC |
3: 91,989,201 (GRCm39) |
|
probably null |
Het |
| Lrit3 |
AC |
ACATCC |
3: 129,597,562 (GRCm39) |
|
probably null |
Het |
| Lrrc63 |
CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
14: 75,362,622 (GRCm39) |
|
probably benign |
Homo |
| Mapk7 |
GG |
GGTGCTAG |
11: 61,381,048 (GRCm39) |
|
probably benign |
Het |
| Nacad |
GGGTCA |
GGGTCATGGTCA |
11: 6,549,753 (GRCm39) |
|
probably benign |
Het |
| Ndufc2 |
G |
C |
7: 97,049,497 (GRCm39) |
M34I |
probably benign |
Het |
| Nphp3 |
CACG |
C |
9: 103,903,138 (GRCm39) |
|
probably benign |
Het |
| Nrg3 |
AG |
AGCCTTTG |
14: 38,119,223 (GRCm39) |
|
probably benign |
Het |
| Pdik1l |
TTTTGTTTT |
TTTTGTTTTGTGTTTGTTTT |
4: 134,006,680 (GRCm39) |
|
probably null |
Homo |
| Pdik1l |
TTTTTGTTTT |
TTTTTGTTTTGATTTTGTTTT |
4: 134,006,679 (GRCm39) |
|
probably null |
Homo |
| Phaf1 |
G |
A |
8: 105,967,730 (GRCm39) |
G207E |
probably benign |
Homo |
| Plekhs1 |
AC |
ACCTCCCCCGAGGC |
19: 56,468,295 (GRCm39) |
|
probably benign |
Het |
| Prag1 |
CCGC |
CCGCCGC |
8: 36,571,037 (GRCm39) |
|
probably benign |
Homo |
| Prtg |
G |
A |
9: 72,764,147 (GRCm39) |
R540Q |
probably damaging |
Het |
| Raet1d |
T |
TCCTCTCTGGTAG |
10: 22,246,817 (GRCm39) |
|
probably null |
Homo |
| Rhbdf1 |
A |
ATTTT |
11: 32,164,391 (GRCm39) |
|
probably benign |
Het |
| Rps19 |
AAAATT |
AAAATTGAAATT |
7: 24,588,607 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
GGCAGC |
GGCAGCCGCAGC |
8: 85,682,800 (GRCm39) |
|
probably benign |
Het |
| Scaf4 |
TGCGGC |
TGC |
16: 90,026,742 (GRCm39) |
|
probably benign |
Homo |
| Serac1 |
T |
A |
17: 6,121,083 (GRCm39) |
K70N |
probably damaging |
Homo |
| Setd1a |
CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
CTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
7: 127,384,469 (GRCm39) |
|
probably benign |
Het |
| Shf |
TCT |
TCTGCT |
2: 122,184,658 (GRCm39) |
|
probably benign |
Homo |
| Shroom4 |
TGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCA |
X: 6,536,115 (GRCm39) |
|
probably benign |
Homo |
| Six3 |
CGG |
CGGAGG |
17: 85,928,793 (GRCm39) |
|
probably benign |
Het |
| Snx1 |
TCT |
TCTCCT |
9: 66,012,208 (GRCm39) |
|
probably benign |
Homo |
| Spag17 |
AGG |
AGGGGG |
3: 99,963,561 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
GGA |
GGATGA |
3: 99,963,574 (GRCm39) |
|
probably benign |
Het |
| Speer4a1 |
C |
A |
5: 26,241,746 (GRCm39) |
E127* |
probably null |
Het |
| Sry |
ACTG |
ACTGCTG |
Y: 2,662,818 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
A |
AGCAGCT |
3: 54,635,092 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
GCAGCA |
GCAGCATCAGCA |
3: 54,635,072 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
CAGCAG |
CAGCAGGAGCAG |
3: 54,635,076 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
GGGTA |
G |
18: 60,961,722 (GRCm39) |
|
probably benign |
Homo |
| Tert |
C |
CAAGGGTGCG |
13: 73,796,423 (GRCm39) |
|
probably benign |
Het |
| Tmbim7 |
C |
T |
5: 3,720,064 (GRCm39) |
R100C |
possibly damaging |
Het |
| Tmed6 |
C |
CTAGA |
8: 107,788,230 (GRCm39) |
|
probably null |
Homo |
| Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
CA |
CAGCAA |
11: 94,105,303 (GRCm39) |
|
probably null |
Het |
| Trcg1 |
AGCTCCTGTGTCTGT |
A |
9: 57,149,485 (GRCm39) |
|
probably null |
Homo |
| Trim16 |
A |
AAGC |
11: 62,711,521 (GRCm39) |
|
probably benign |
Homo |
| Tsbp1 |
GCA |
GCACCA |
17: 34,679,027 (GRCm39) |
|
probably benign |
Het |
| Tsbp1 |
AGC |
AGCCGC |
17: 34,679,047 (GRCm39) |
|
probably benign |
Het |
| Tubgcp4 |
GTGA |
G |
2: 121,005,944 (GRCm39) |
|
probably benign |
Het |
| Tusc1 |
ACCGCC |
ACCGCCCCCGCC |
4: 93,223,544 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
CTTC |
CTTCTTC |
11: 102,197,771 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
CTCTTC |
CTCTTCTTC |
11: 102,197,769 (GRCm39) |
|
probably benign |
Het |
| Vars1 |
GTGG |
GTGGAGTCCTGGTTGG |
17: 35,234,964 (GRCm39) |
|
probably benign |
Homo |
| Vmn2r52 |
C |
T |
7: 9,892,947 (GRCm39) |
E731K |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,314,583 (GRCm39) |
M334I |
probably benign |
Homo |
| Zc3h13 |
GTGCGAGAT |
GTGCGAGATTTGCGAGAT |
14: 75,561,038 (GRCm39) |
|
probably benign |
Het |
| Zc3h13 |
CGGGATGTGCG |
CGGGATGTGCGGGATGTGCG |
14: 75,561,032 (GRCm39) |
|
probably benign |
Homo |
| Zc3h13 |
TGTGCGAG |
TGTGCGAGGAGTGCGAG |
14: 75,561,037 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
CAGCA |
CAGCAACAGAAGCA |
8: 109,682,733 (GRCm39) |
|
probably benign |
Het |
| Zfp282 |
GGC |
GGCAGC |
6: 47,881,725 (GRCm39) |
|
probably benign |
Het |
| Zfp459 |
GA |
GAGTTA |
13: 67,556,394 (GRCm39) |
|
probably null |
Homo |
| Zfp598 |
ACCACC |
ACCACCCCCACC |
17: 24,899,753 (GRCm39) |
|
probably benign |
Het |
| Zfp831 |
TCC |
TCCCCC |
2: 174,487,261 (GRCm39) |
|
probably benign |
Het |
| Zfp997 |
G |
A |
13: 66,270,022 (GRCm39) |
S396N |
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 |
|
|
FR4304:Med12l
|
UTSW |
3 |
59,183,403 (GRCm39) |
small insertion |
probably benign |
|
|
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 |
|
|
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'- TCCTGGAAGAATACCTGCTGC -3'
(R):5'- TCGCAAACCTGTATAACACATGTAC -3'
Sequencing Primer
(F):5'- CCTGGAAGAATACCTGCTGCATTTG -3'
(R):5'- CATGTACAGAGATATGCACATAGC -3'
|
| Posted On |
2018-04-05 |
Incidental Mutation