Incidental Mutation 'FR4449:Med12l'
ID |
511456 |
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 # |
FR4449 ()
|
Quality Score |
168.468 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
58913246-59226103 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
CAG to CAGTAG
at 59183384 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 null
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 null
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 null
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: 99.7%
- 3x: 99.5%
- 10x: 98.3%
- 20x: 95.8%
|
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: 128 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
GGTATTGCATTTCTTATCT |
G |
5: 4,031,214 (GRCm39) |
|
probably benign |
Homo |
Amfr |
C |
G |
8: 94,731,787 (GRCm39) |
G30R |
probably damaging |
Homo |
Anxa7 |
C |
T |
14: 20,519,479 (GRCm39) |
G113E |
probably damaging |
Homo |
Apc |
AGC |
AGCCAATAACGC |
18: 34,415,058 (GRCm39) |
|
probably benign |
Het |
Apc |
AATAAAGC |
AATAAAGCCGATAAAGC |
18: 34,415,053 (GRCm39) |
|
probably benign |
Het |
Apol6 |
TTT |
TTTGATT |
15: 76,935,643 (GRCm39) |
|
probably null |
Homo |
Arid1b |
CGG |
CGGTGG |
17: 5,045,864 (GRCm39) |
|
probably benign |
Het |
B430218F22Rik |
CGGCG |
CGGCGATGGCG |
13: 118,523,387 (GRCm39) |
|
probably benign |
Homo |
Blm |
CCTCCTCCTCCTCCTCCTCCTCCT |
CCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCT |
7: 80,162,656 (GRCm39) |
|
probably benign |
Het |
Brd2 |
CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
CAAAAAAAAAAAAAAA |
17: 34,335,310 (GRCm39) |
|
probably benign |
Het |
Btnl10 |
AAG |
AAGGAG |
11: 58,814,754 (GRCm39) |
|
probably benign |
Homo |
Cacna1a |
ACC |
ACCCCC |
8: 85,365,343 (GRCm39) |
|
probably benign |
Het |
Cacna1a |
ACC |
ACCGCC |
8: 85,365,352 (GRCm39) |
|
probably benign |
Het |
Cacna1a |
ACC |
ACCCCC |
8: 85,365,349 (GRCm39) |
|
probably benign |
Het |
Calhm1 |
TGGC |
TGGCTGTGGCTGCGGC |
19: 47,129,713 (GRCm39) |
|
probably benign |
Het |
Ccdc15 |
C |
CTTTAT |
9: 37,226,454 (GRCm39) |
|
probably null |
Het |
Ccdc85c |
CCG |
CCGACG |
12: 108,240,875 (GRCm39) |
|
probably benign |
Het |
Ccnk |
TTCCCAC |
T |
12: 108,168,766 (GRCm39) |
|
probably benign |
Het |
Cdhr2 |
AGTC |
AGTCGTC |
13: 54,873,737 (GRCm39) |
|
probably benign |
Homo |
Cdk15 |
A |
ATCTAAAAGG |
1: 59,296,982 (GRCm39) |
|
probably benign |
Homo |
Cdx1 |
GCTG |
GCTGCTCCTG |
18: 61,152,953 (GRCm39) |
|
probably benign |
Het |
Cfap46 |
T |
C |
7: 139,218,711 (GRCm39) |
|
probably benign |
Homo |
Cgref1 |
TTC |
TTCGTC |
5: 31,091,120 (GRCm39) |
|
probably benign |
Het |
Cgref1 |
CTT |
CTTATT |
5: 31,091,122 (GRCm39) |
|
probably null |
Homo |
Cluh |
G |
GACTGAA |
11: 74,560,358 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
AGCCCC |
AGCCCCCGCCCC |
11: 101,080,395 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
AGCC |
AGCCCCCGCC |
11: 101,080,419 (GRCm39) |
|
probably benign |
Het |
Cpne1 |
CCTACT |
CCT |
2: 155,915,422 (GRCm39) |
|
probably benign |
Homo |
Cracdl |
T |
A |
1: 37,664,116 (GRCm39) |
E594V |
probably benign |
Homo |
Cracdl |
C |
A |
1: 37,664,117 (GRCm39) |
E594* |
probably null |
Homo |
Cttnbp2 |
CTGCTG |
CTGCTGTTGCTG |
6: 18,367,461 (GRCm39) |
|
probably benign |
Het |
Cul9 |
TCC |
TCCGCC |
17: 46,811,782 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
AGGAGG |
AGGAGGCGGAGG |
9: 99,465,739 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
GGAGGA |
GGAGGAAGAGGA |
9: 99,465,749 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
AGGAGG |
AGGAGGGGGAGG |
9: 99,465,727 (GRCm39) |
|
probably benign |
Het |
Dhx8 |
CG |
CGAGACAG |
11: 101,629,020 (GRCm39) |
|
probably benign |
Homo |
Dhx8 |
CG |
CGAGACAG |
11: 101,629,032 (GRCm39) |
|
probably benign |
Het |
Dhx8 |
G |
GAGACCC |
11: 101,629,033 (GRCm39) |
|
probably benign |
Het |
Dhx8 |
AGACCG |
AGACCGTGACCG |
11: 101,629,010 (GRCm39) |
|
probably benign |
Homo |
Dhx8 |
AGACCGGGACCGGGACCGGGACCGGGAC |
AGACCGGGACCGGGAC |
11: 101,629,016 (GRCm39) |
|
probably benign |
Het |
Dspp |
CGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG |
CGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG |
5: 104,326,254 (GRCm39) |
|
probably benign |
Het |
Dusp10 |
G |
T |
1: 183,769,253 (GRCm39) |
C73F |
probably damaging |
Homo |
Erich3 |
GA |
GAGAA |
3: 154,469,150 (GRCm39) |
|
probably benign |
Homo |
Ermn |
CTT |
CTTGTT |
2: 57,938,086 (GRCm39) |
|
probably benign |
Het |
Fgd6 |
GGAT |
G |
10: 93,880,182 (GRCm39) |
|
probably benign |
Homo |
G530012D18Rik |
GAGAGAGAGAGAGAGAGACAGAGA |
GAGAGA |
1: 85,504,901 (GRCm39) |
|
probably benign |
Homo |
Gar1 |
GCCGCCTCCGCC |
GCCGCC |
3: 129,624,353 (GRCm39) |
|
probably benign |
Homo |
Gatad2b |
AGAC |
A |
3: 90,249,224 (GRCm39) |
|
probably benign |
Het |
Gigyf2 |
C |
T |
1: 87,356,307 (GRCm39) |
|
probably benign |
Het |
Gm16519 |
A |
AGAT |
17: 71,236,333 (GRCm39) |
|
probably benign |
Homo |
Gm4340 |
AGC |
AGCGGC |
10: 104,031,946 (GRCm39) |
|
probably benign |
Het |
Gm4340 |
GCA |
GCATCA |
10: 104,031,947 (GRCm39) |
|
probably benign |
Het |
Gm4340 |
AGC |
AGCGGC |
10: 104,031,943 (GRCm39) |
|
probably benign |
Het |
Gpatch11 |
AGGAAG |
AGGAAGCGGAAG |
17: 79,149,597 (GRCm39) |
|
probably benign |
Het |
Gpatch11 |
GAAGAG |
GAAGAGCAAGAG |
17: 79,149,605 (GRCm39) |
|
probably benign |
Het |
Gpatch11 |
GG |
GGCAGACG |
17: 79,149,610 (GRCm39) |
|
probably benign |
Het |
Hoxa10 |
T |
A |
6: 52,211,166 (GRCm39) |
Q250L |
possibly damaging |
Homo |
Igkv12-89 |
GCA |
GCAGCAGCAACA |
6: 68,812,264 (GRCm39) |
|
probably benign |
Homo |
Igsf10 |
G |
A |
3: 59,226,531 (GRCm39) |
R2381C |
probably damaging |
Homo |
Il17rd |
GGC |
GGCAGC |
14: 26,804,635 (GRCm39) |
|
probably benign |
Het |
Ints5 |
G |
A |
19: 8,874,594 (GRCm39) |
R851Q |
probably benign |
Het |
Isg20l2 |
AGA |
AGAGGA |
3: 87,839,020 (GRCm39) |
|
probably benign |
Het |
Kcng4 |
G |
T |
8: 120,360,258 (GRCm39) |
Y39* |
probably null |
Homo |
Kifc5b |
A |
C |
17: 27,143,191 (GRCm39) |
E321A |
probably benign |
Het |
Klra2 |
TCCACAG |
TCCACAGAAACCCACAG |
6: 131,198,809 (GRCm39) |
|
probably null |
Homo |
Kmt2b |
TCCTCC |
TCCTCCCCCTCC |
7: 30,285,794 (GRCm39) |
|
probably benign |
Het |
Kmt2b |
CCTCCT |
CCTCCTGCTCCT |
7: 30,285,786 (GRCm39) |
|
probably benign |
Het |
Kmt2b |
TCCTCC |
TCCTCCACCTCC |
7: 30,285,791 (GRCm39) |
|
probably benign |
Het |
Krt10 |
ACC |
ACCACCTCC |
11: 99,280,093 (GRCm39) |
|
probably benign |
Het |
Las1l |
GA |
GAGAA |
X: 94,984,438 (GRCm39) |
|
probably benign |
Het |
Lce1m |
AC |
ACTGCTGCTGCCGC |
3: 92,925,459 (GRCm39) |
|
probably benign |
Het |
Leo1 |
GTACCATGCA |
G |
9: 75,357,855 (GRCm39) |
|
probably benign |
Het |
Lkaaear1 |
CA |
CATCTCCAGCTCTA |
2: 181,339,364 (GRCm39) |
|
probably benign |
Het |
Maml2 |
ACAGCAGCAGCAACAGCAGCAGCAGCAGCA |
ACAGCAACAGCAGCAGCAGCAGCA |
9: 13,532,752 (GRCm39) |
|
probably benign |
Homo |
Mgat4e |
GTCGTAGTCATCGT |
GTCGT |
1: 134,468,735 (GRCm39) |
|
probably benign |
Homo |
Mn1 |
GCA |
GCAACA |
5: 111,567,576 (GRCm39) |
|
probably benign |
Het |
Morn4 |
AGGCAGTGAG |
AGGCAGTGAGTCTGGCAGTGAG |
19: 42,064,548 (GRCm39) |
|
probably benign |
Het |
Nat8f2 |
T |
A |
6: 85,844,668 (GRCm39) |
L231F |
possibly damaging |
Homo |
Noc2l |
C |
CTGA |
4: 156,324,558 (GRCm39) |
|
probably benign |
Het |
Nrg3 |
T |
TAGACAC |
14: 38,119,228 (GRCm39) |
|
probably benign |
Het |
Or8b41 |
A |
G |
9: 38,054,484 (GRCm39) |
I13V |
probably benign |
Homo |
Piezo1 |
G |
A |
8: 123,222,308 (GRCm39) |
R503W |
probably damaging |
Homo |
Pih1d2 |
CTCTTGCGAGGATC |
CTC |
9: 50,532,927 (GRCm39) |
|
probably null |
Homo |
Pik3ap1 |
G |
GGAA |
19: 41,270,385 (GRCm39) |
|
probably benign |
Het |
Ppp1r3f |
C |
A |
X: 7,426,575 (GRCm39) |
G562V |
probably damaging |
Homo |
Ptms |
TTC |
TTCGTC |
6: 124,891,422 (GRCm39) |
|
probably benign |
Het |
Ptpn23 |
G |
T |
9: 110,216,701 (GRCm39) |
P1052T |
probably benign |
Homo |
Qrich2 |
AACT |
A |
11: 116,347,025 (GRCm39) |
|
probably benign |
Homo |
Raet1d |
A |
ATATCCTCTCTGG |
10: 22,246,814 (GRCm39) |
|
probably benign |
Het |
Rbm33 |
AGCAGCAGCAGCACCAGCCGCAGCAGCAGCA |
AGCAGCAGCAGCA |
5: 28,599,166 (GRCm39) |
|
probably benign |
Homo |
Rrbp1 |
TGCTTCTCAAAGGTGGCTGCCTTGGCTTC |
TGCTTC |
2: 143,809,376 (GRCm39) |
|
probably null |
Het |
Sbp |
CAACAAAGATGCTGA |
CAACAAAGATGCTGAGAACAAAGATGCTGA |
17: 24,164,338 (GRCm39) |
|
probably benign |
Het |
Setd1a |
G |
A |
7: 127,384,498 (GRCm39) |
|
probably benign |
Het |
Sfswap |
CCCACTCAG |
CCCACTCAGTCCACTCAG |
5: 129,646,812 (GRCm39) |
|
probably benign |
Het |
Sfswap |
CCACTCAGC |
CCACTCAGCTCACTCAGC |
5: 129,646,813 (GRCm39) |
|
probably benign |
Het |
Sh3pxd2b |
T |
TGTCTGC |
11: 32,373,065 (GRCm39) |
|
probably benign |
Homo |
Six3 |
CGG |
CGGGGG |
17: 85,928,790 (GRCm39) |
|
probably benign |
Het |
Slc12a1 |
C |
CTTTGGCCACAACACG |
2: 124,996,136 (GRCm39) |
|
probably benign |
Homo |
Slc26a8 |
CTCTCTG |
C |
17: 28,857,290 (GRCm39) |
|
probably benign |
Het |
Spata31h1 |
TTCAGT |
TT |
10: 82,121,303 (GRCm39) |
|
probably null |
Homo |
Srebf2 |
G |
T |
15: 82,069,536 (GRCm39) |
A693S |
probably damaging |
Homo |
Sry |
ACTG |
ACTGCTG |
Y: 2,662,818 (GRCm39) |
|
probably benign |
Het |
Sry |
TGCTG |
TGCTGCTG |
Y: 2,662,832 (GRCm39) |
|
probably benign |
Homo |
Ston1 |
G |
A |
17: 88,942,953 (GRCm39) |
V120M |
probably benign |
Homo |
Supt20 |
CAGCAG |
CAGCAGGAGCAG |
3: 54,635,070 (GRCm39) |
|
probably benign |
Het |
Tbl3 |
TG |
TGTGG |
17: 24,921,518 (GRCm39) |
|
probably benign |
Homo |
Tctn3 |
AG |
AGAAGCCG |
19: 40,595,646 (GRCm39) |
|
probably benign |
Het |
Tesk1 |
CCC |
CCCACC |
4: 43,447,002 (GRCm39) |
|
probably benign |
Homo |
Tmc2 |
T |
G |
2: 130,082,116 (GRCm39) |
V433G |
probably damaging |
Het |
Tmprss13 |
G |
A |
9: 45,239,856 (GRCm39) |
A55T |
unknown |
Het |
Tnfaip8 |
ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
AC |
18: 50,179,906 (GRCm39) |
|
probably null |
Homo |
Tob1 |
CAG |
CAGAAG |
11: 94,105,294 (GRCm39) |
|
probably benign |
Het |
Tob1 |
AGC |
AGCCGC |
11: 94,105,301 (GRCm39) |
|
probably benign |
Het |
Tpsab1 |
TTGCACCTCCT |
TT |
17: 25,562,756 (GRCm39) |
|
probably benign |
Homo |
Triobp |
GTC |
GTCTTC |
15: 78,877,589 (GRCm39) |
|
probably benign |
Het |
Ubtf |
CCT |
CCTACT |
11: 102,197,774 (GRCm39) |
|
probably null |
Het |
Vps13b |
G |
T |
15: 35,847,103 (GRCm39) |
A2629S |
probably damaging |
Homo |
Xpnpep3 |
G |
C |
15: 81,311,623 (GRCm39) |
D110H |
possibly damaging |
Het |
Zc3h13 |
CGAGATGTG |
CGAGATGTGTGAGATGTG |
14: 75,561,041 (GRCm39) |
|
probably null |
Homo |
Zfhx3 |
GCAACAGCA |
GCAACAGCAACAACAGCA |
8: 109,682,726 (GRCm39) |
|
probably benign |
Homo |
Zfp26 |
C |
A |
9: 20,349,842 (GRCm39) |
A241S |
probably benign |
Homo |
Zfp335 |
CTC |
CTCATC |
2: 164,749,397 (GRCm39) |
|
probably benign |
Het |
Zfp335 |
CTCT |
CTCTTCT |
2: 164,749,403 (GRCm39) |
|
probably benign |
Het |
Zfp598 |
ACCACC |
ACCACCTCCACC |
17: 24,899,750 (GRCm39) |
|
probably benign |
Het |
Zfp598 |
ACCACC |
ACCACCCCCACC |
17: 24,899,759 (GRCm39) |
|
probably benign |
Het |
Zfp831 |
TCC |
TCCACC |
2: 174,487,264 (GRCm39) |
|
probably benign |
Het |
Zfp831 |
CTC |
CTCGTC |
2: 174,487,275 (GRCm39) |
|
probably benign |
Het |
Zfp978 |
G |
T |
4: 147,475,401 (GRCm39) |
S316I |
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 |
|
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'- GGGCTTCTTCCCAAGATCAATAATG -3'
Sequencing Primer
(F):5'- TCCCGATTGGACCCTGC -3'
(R):5'- TTCGCAAACCTGTATAACACATG -3'
|
Posted On |
2018-04-05 |