Incidental Mutation 'FR4548:Med12l'
ID |
512017 |
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 # |
FR4548 ()
|
Quality Score |
186.468 |
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: 99.5%
- 10x: 98.3%
- 20x: 94.9%
|
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: 147 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
CTT |
CTTTTT |
12: 110,634,883 (GRCm39) |
|
probably benign |
Het |
1700001K19Rik |
CTT |
CTTTTT |
12: 110,634,886 (GRCm39) |
|
probably benign |
Het |
4930433I11Rik |
ACCTC |
AC |
7: 40,642,480 (GRCm39) |
|
probably benign |
Het |
Abt1 |
TTCTTGCT |
TT |
13: 23,607,881 (GRCm39) |
|
probably benign |
Het |
Ahdc1 |
T |
TCCC |
4: 132,790,071 (GRCm39) |
|
probably benign |
Homo |
Ahdc1 |
TCC |
TCCCCC |
4: 132,790,068 (GRCm39) |
|
probably benign |
Homo |
AI837181 |
CGG |
CGGGGG |
19: 5,475,259 (GRCm39) |
|
probably benign |
Het |
AI837181 |
CG |
CGGGG |
19: 5,475,265 (GRCm39) |
|
probably benign |
Het |
Anxa2 |
CCC |
CCCTCC |
9: 69,387,485 (GRCm39) |
|
probably benign |
Het |
Anxa7 |
C |
T |
14: 20,519,479 (GRCm39) |
G113E |
probably damaging |
Homo |
Apc |
CCAATAAAG |
CCAATAAAGACAATAAAG |
18: 34,415,051 (GRCm39) |
|
probably benign |
Het |
Apol6 |
T |
TGTTA |
15: 76,935,645 (GRCm39) |
|
probably null |
Homo |
Blm |
CTAC |
CTACTTAC |
7: 80,113,517 (GRCm39) |
|
probably null |
Homo |
Brd2 |
CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
CAAAAAAAAAAAAAAA |
17: 34,335,310 (GRCm39) |
|
probably benign |
Het |
Bud31 |
C |
T |
5: 145,083,345 (GRCm39) |
R63C |
probably benign |
Het |
C4b |
C |
T |
17: 34,959,971 (GRCm39) |
R335H |
probably benign |
Het |
Cacna1a |
ACC |
ACCCCC |
8: 85,365,346 (GRCm39) |
|
probably benign |
Het |
Cacna1f |
AGG |
AGGGGG |
X: 7,486,297 (GRCm39) |
|
probably benign |
Het |
Ccdc170 |
ACC |
ACCCCC |
10: 4,511,026 (GRCm39) |
|
probably benign |
Het |
Cckbr |
GGGC |
G |
7: 105,083,888 (GRCm39) |
|
probably benign |
Homo |
Cd80 |
GAAA |
GAAAAAA |
16: 38,306,681 (GRCm39) |
|
probably benign |
Homo |
Ces1b |
T |
C |
8: 93,794,720 (GRCm39) |
N293S |
probably null |
Homo |
Cgnl1 |
CGC |
CGCGGC |
9: 71,631,999 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
CCCAGC |
CCCAGCGCCAGC |
11: 101,080,398 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
GCC |
GCCCCAACC |
11: 101,080,420 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
AGCC |
AGCCCCCGCC |
11: 101,080,419 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
CCAGCC |
CCAGCCTCAGCC |
11: 101,080,405 (GRCm39) |
|
probably benign |
Het |
Cracdl |
C |
A |
1: 37,664,117 (GRCm39) |
E594* |
probably null |
Homo |
Cracdl |
A |
G |
1: 37,664,183 (GRCm39) |
S47P |
probably damaging |
Homo |
Cracdl |
T |
A |
1: 37,664,116 (GRCm39) |
E594V |
probably benign |
Homo |
Ctsm |
GTGA |
GTGAATGA |
13: 61,685,651 (GRCm39) |
|
probably null |
Homo |
Cttnbp2 |
TGCTGC |
TGCTGCCGCTGC |
6: 18,367,462 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,726 (GRCm39) |
|
probably null |
Het |
Dusp10 |
G |
T |
1: 183,769,253 (GRCm39) |
C73F |
probably damaging |
Homo |
Efna4 |
ATGTGAT |
A |
3: 89,241,729 (GRCm39) |
|
probably benign |
Homo |
Eif3a |
A |
ATTTTT |
19: 60,763,729 (GRCm39) |
|
probably benign |
Homo |
Ermn |
TTC |
TTCATC |
2: 57,938,087 (GRCm39) |
|
probably benign |
Het |
Ermn |
TC |
TCTCC |
2: 57,938,100 (GRCm39) |
|
probably benign |
Het |
Fbxo43 |
GTGCCT |
GTGCCTATGCCT |
15: 36,152,244 (GRCm39) |
|
probably null |
Het |
Fscb |
A |
G |
12: 64,519,337 (GRCm39) |
S710P |
unknown |
Het |
Fscb |
T |
A |
12: 64,519,339 (GRCm39) |
Q709L |
unknown |
Het |
Glod4 |
A |
C |
11: 76,134,136 (GRCm39) |
|
probably benign |
Homo |
Gm14401 |
A |
G |
2: 176,778,661 (GRCm39) |
D249G |
probably benign |
Het |
Gm4340 |
AGC |
AGCGGC |
10: 104,031,934 (GRCm39) |
|
probably benign |
Het |
Gm4340 |
AGC |
AGCCGC |
10: 104,031,931 (GRCm39) |
|
probably benign |
Het |
Gm8104 |
T |
C |
14: 42,967,468 (GRCm39) |
S179P |
probably damaging |
Het |
Gm8104 |
C |
T |
14: 42,967,466 (GRCm39) |
T178I |
probably benign |
Het |
Gpatch11 |
GGAAGA |
GGAAGACGAAGA |
17: 79,149,604 (GRCm39) |
|
probably benign |
Het |
H1f6 |
GAGAA |
GA |
13: 23,879,903 (GRCm39) |
|
probably benign |
Homo |
H2-K2 |
GTTT |
G |
17: 34,216,016 (GRCm39) |
|
probably benign |
Homo |
Hspa1b |
GCGCC |
GC |
17: 35,176,105 (GRCm39) |
|
probably benign |
Homo |
Ifi211 |
G |
A |
1: 173,733,759 (GRCm39) |
A134V |
possibly damaging |
Het |
Igf1r |
C |
CTGGAGATGGAGG |
7: 67,875,934 (GRCm39) |
|
probably benign |
Het |
Igkv9-129 |
G |
A |
6: 67,817,018 (GRCm39) |
V41I |
probably damaging |
Het |
Ipo9 |
TCC |
TCCCCC |
1: 135,314,013 (GRCm39) |
|
probably benign |
Het |
Kcng4 |
G |
T |
8: 120,360,258 (GRCm39) |
Y39* |
probably null |
Homo |
Klra2 |
AG |
AGAAATCCACGG |
6: 131,198,814 (GRCm39) |
|
probably null |
Het |
Kmt2b |
CTCC |
CTCCTCGTCC |
7: 30,285,805 (GRCm39) |
|
probably benign |
Het |
Kng2 |
G |
A |
16: 22,819,302 (GRCm39) |
Q245* |
probably null |
Het |
Kri1 |
CTCCTCTTCCTC |
CTCCTC |
9: 21,192,346 (GRCm39) |
|
probably benign |
Het |
Krt10 |
TCCTCC |
TCCTCCCCCTCC |
11: 99,280,099 (GRCm39) |
|
probably benign |
Het |
Krt10 |
TCCTCCAC |
TCCTCCACCTCCAC |
11: 99,280,102 (GRCm39) |
|
probably benign |
Homo |
Las1l |
TC |
TCTTCCGC |
X: 94,984,231 (GRCm39) |
|
probably benign |
Het |
Las1l |
GAG |
GAGAAG |
X: 94,984,429 (GRCm39) |
|
probably benign |
Het |
Lrit3 |
GCT |
GCTACT |
3: 129,582,462 (GRCm39) |
|
probably benign |
Het |
Lrit3 |
GCT |
GCTACT |
3: 129,582,465 (GRCm39) |
|
probably benign |
Het |
Lrrc63 |
CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
14: 75,362,622 (GRCm39) |
|
probably benign |
Homo |
Luzp1 |
CTCTTCAGA |
CTCTTCAGAGGTGGCATCTTCAGA |
4: 136,270,499 (GRCm39) |
|
probably benign |
Homo |
Mast4 |
CA |
CAGTGGGA |
13: 102,872,826 (GRCm39) |
|
probably benign |
Homo |
Mn1 |
GCA |
GCACCA |
5: 111,567,564 (GRCm39) |
|
probably benign |
Het |
Morn4 |
AGGCAGTGAG |
AGGCAGTGAGTCCGGCAGTGAG |
19: 42,064,548 (GRCm39) |
|
probably benign |
Het |
Msantd4 |
A |
T |
9: 4,384,937 (GRCm39) |
I221F |
possibly damaging |
Homo |
Mup21 |
TATACTT |
TATACTTTTTAAATACTT |
4: 62,067,582 (GRCm39) |
|
probably benign |
Het |
Mup21 |
ATACTT |
ATACTTTTTATCTACTT |
4: 62,067,583 (GRCm39) |
|
probably benign |
Het |
Nacad |
AGGGTC |
AGGGTCGGGGTC |
11: 6,549,752 (GRCm39) |
|
probably benign |
Het |
Nacad |
GG |
GGCCAGTG |
11: 6,549,760 (GRCm39) |
|
probably benign |
Het |
Ncapd2 |
CTT |
CTTGGTT |
6: 125,150,559 (GRCm39) |
|
probably benign |
Homo |
Nelfe |
GACCGGGATCGAGACAGAGAC |
GACCGGGATCGAGACAGAGACAAAGACCGGGATCGAGACAGAGAC |
17: 35,073,046 (GRCm39) |
|
probably benign |
Homo |
Nfxl1 |
CCGGGG |
CCGGGGTCGGGG |
5: 72,716,458 (GRCm39) |
|
probably benign |
Het |
Nkx2-6 |
C |
T |
14: 69,412,678 (GRCm39) |
T282M |
probably damaging |
Homo |
Noc2l |
AGGC |
AGGCGGC |
4: 156,324,549 (GRCm39) |
|
probably benign |
Homo |
Noc2l |
GC |
GCTTC |
4: 156,324,557 (GRCm39) |
|
probably benign |
Het |
Nphp3 |
CACG |
C |
9: 103,903,138 (GRCm39) |
|
probably benign |
Het |
Nrg3 |
TTG |
TTGACACTG |
14: 38,119,228 (GRCm39) |
|
probably benign |
Homo |
Or2ak5 |
T |
G |
11: 58,611,197 (GRCm39) |
I226L |
probably benign |
Het |
Or51f1e |
T |
TTAG |
7: 102,747,516 (GRCm39) |
|
probably null |
Homo |
Or51v8 |
G |
GAAC |
7: 103,320,174 (GRCm39) |
|
probably null |
Homo |
Or51v8 |
CAAA |
CAAAAAA |
7: 103,320,167 (GRCm39) |
|
probably benign |
Homo |
Or5af2 |
T |
A |
11: 58,708,266 (GRCm39) |
V144D |
possibly damaging |
Homo |
Osmr |
CTC |
CTCTTC |
15: 6,867,184 (GRCm39) |
|
probably benign |
Homo |
Patl2 |
GCT |
GCTCCT |
2: 121,956,616 (GRCm39) |
|
probably benign |
Het |
Pdik1l |
ACCAC |
ACCACCGCCAC |
4: 134,006,823 (GRCm39) |
|
probably benign |
Homo |
Phldb3 |
GACCC |
G |
7: 24,328,403 (GRCm39) |
|
probably null |
Het |
Piezo1 |
G |
A |
8: 123,222,308 (GRCm39) |
R503W |
probably damaging |
Homo |
Pik3ap1 |
AG |
AGGGG |
19: 41,270,384 (GRCm39) |
|
probably benign |
Homo |
Pkdrej |
TG |
TGGGAGCG |
15: 85,703,881 (GRCm39) |
|
probably benign |
Homo |
Polr1g |
GGATG |
GG |
7: 19,091,169 (GRCm39) |
|
probably benign |
Homo |
Ppp1r3f |
C |
A |
X: 7,426,575 (GRCm39) |
G562V |
probably damaging |
Homo |
Prag1 |
GC |
GCAAC |
8: 36,571,039 (GRCm39) |
|
probably benign |
Homo |
Prr13 |
TCC |
TCCGCC |
15: 102,370,609 (GRCm39) |
|
probably benign |
Het |
Prtg |
GTAAC |
G |
9: 72,764,363 (GRCm39) |
|
probably benign |
Homo |
Ptk2b |
C |
T |
14: 66,411,298 (GRCm39) |
R411Q |
possibly damaging |
Het |
Ptms |
TTC |
TTCGTC |
6: 124,891,419 (GRCm39) |
|
probably benign |
Het |
Ptpn23 |
G |
T |
9: 110,216,701 (GRCm39) |
P1052T |
probably benign |
Homo |
Rbm33 |
AGCAGCCGCAGC |
AGCAGC |
5: 28,599,199 (GRCm39) |
|
probably benign |
Het |
Setd1a |
TGGTGGTGGT |
TGGTGGTGGTGGTGGTGGT |
7: 127,384,479 (GRCm39) |
|
probably benign |
Homo |
Setd1a |
TGGTAGTGG |
TGGTAGTGGCGGTAGTGG |
7: 127,384,485 (GRCm39) |
|
probably benign |
Homo |
Sfswap |
CCACTCAGC |
CCACTCAGCGCACTCAGC |
5: 129,646,813 (GRCm39) |
|
probably benign |
Het |
Sfswap |
AGCCCACTCGGCC |
AGCCCACTCGGCCCACTCGGCC |
5: 129,646,819 (GRCm39) |
|
probably benign |
Homo |
Sh3pxd2b |
GT |
GTGTCTCT |
11: 32,373,064 (GRCm39) |
|
probably benign |
Homo |
Sh3pxd2b |
T |
TGTCTTG |
11: 32,373,065 (GRCm39) |
|
probably benign |
Het |
Shroom4 |
GCAGCAACA |
GCA |
X: 6,536,128 (GRCm39) |
|
probably benign |
Het |
Six3 |
GGC |
GGCCGC |
17: 85,928,791 (GRCm39) |
|
probably benign |
Het |
Slc12a1 |
ACC |
ACCTTTGGCCACAACCCC |
2: 124,996,134 (GRCm39) |
|
probably benign |
Homo |
Spaca1 |
GC |
GCTCTCTC |
4: 34,049,856 (GRCm39) |
|
probably benign |
Het |
Spag17 |
AGG |
AGGCGG |
3: 99,963,570 (GRCm39) |
|
probably benign |
Het |
Spata31h1 |
G |
GTCATTA |
10: 82,126,830 (GRCm39) |
|
probably benign |
Homo |
Srebf2 |
G |
T |
15: 82,069,536 (GRCm39) |
A693S |
probably damaging |
Homo |
Supt20 |
CA |
CAGCAGAA |
3: 54,635,094 (GRCm39) |
|
probably benign |
Het |
Supt20 |
GCAGCA |
GCAGCACCAGCA |
3: 54,635,078 (GRCm39) |
|
probably benign |
Het |
Supt20 |
CAGCAG |
CAGCAGGAGCAG |
3: 54,635,085 (GRCm39) |
|
probably benign |
Het |
Syne1 |
C |
A |
10: 4,982,969 (GRCm39) |
S8652I |
probably benign |
Homo |
Tob1 |
GCA |
GCAACA |
11: 94,105,281 (GRCm39) |
|
probably benign |
Het |
Tob1 |
AGC |
AGCCGC |
11: 94,105,295 (GRCm39) |
|
probably benign |
Het |
Tomm5 |
CTTCCGC |
CTTCCGCATTTTCCGC |
4: 45,107,977 (GRCm39) |
|
probably benign |
Het |
Trav15-2-dv6-2 |
G |
GAAA |
14: 53,887,214 (GRCm39) |
|
probably benign |
Het |
Triobp |
TCG |
TCGCCG |
15: 78,877,590 (GRCm39) |
|
probably benign |
Homo |
Triobp |
TCG |
TCGGCG |
15: 78,877,587 (GRCm39) |
|
probably benign |
Het |
Tsbp1 |
GCA |
GCATCA |
17: 34,679,039 (GRCm39) |
|
probably benign |
Het |
Tsen2 |
GAG |
GAGAAG |
6: 115,537,029 (GRCm39) |
|
probably benign |
Het |
Ttf2 |
TC |
TCCGC |
3: 100,870,476 (GRCm39) |
|
probably benign |
Homo |
Tusc1 |
CGCCAC |
CGCCACTGCCAC |
4: 93,223,540 (GRCm39) |
|
probably benign |
Het |
Ubtf |
CTC |
CTCATC |
11: 102,197,784 (GRCm39) |
|
probably benign |
Het |
Utrn |
T |
TTCCTGTC |
10: 12,509,685 (GRCm39) |
|
probably benign |
Homo |
Vars1 |
TGG |
TGGAGTCCTGGGGGG |
17: 35,234,965 (GRCm39) |
|
probably benign |
Homo |
Vars1 |
G |
GAGTCCTGGGTGC |
17: 35,234,967 (GRCm39) |
|
probably benign |
Het |
Vmn2r99 |
G |
A |
17: 19,614,547 (GRCm39) |
G756R |
probably damaging |
Het |
Vps13b |
G |
T |
15: 35,847,103 (GRCm39) |
A2629S |
probably damaging |
Homo |
Zc3h13 |
TGCG |
TGCGTGATGAGCG |
14: 75,561,039 (GRCm39) |
|
probably benign |
Het |
Zdhhc16 |
CACA |
CACAACAGGGAAAGCAGTCTGTCAACA |
19: 41,930,607 (GRCm39) |
|
probably null |
Het |
Zfp26 |
C |
A |
9: 20,349,842 (GRCm39) |
A241S |
probably benign |
Homo |
Zfp335 |
TCC |
TCCCCC |
2: 164,749,392 (GRCm39) |
|
probably benign |
Het |
Zfp598 |
CACCAC |
CACCACAACCAC |
17: 24,899,749 (GRCm39) |
|
probably benign |
Het |
Zfp598 |
ACCACC |
ACCACCCCCACC |
17: 24,899,750 (GRCm39) |
|
probably benign |
Het |
Zfp933 |
TT |
TTTGCCT |
4: 147,910,188 (GRCm39) |
|
probably null |
Het |
Zfp986 |
G |
T |
4: 145,625,928 (GRCm39) |
R196I |
probably benign |
Het |
Zfp992 |
G |
T |
4: 146,550,464 (GRCm39) |
E62* |
probably null |
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 |
|
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'- GGGCTTCTTCCCAAGATCAATAATG -3'
Sequencing Primer
(F):5'- TCCCGATTGGACCCTGC -3'
(R):5'- TCTTCCCAAGATCAATAATGAACTAC -3'
|
Posted On |
2018-04-05 |