Incidental Mutation 'IGL01285:Adam6a'
ID |
72674 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adam6a
|
Ensembl Gene |
ENSMUSG00000043945 |
Gene Name |
a disintegrin and metallopeptidase domain 6A |
Synonyms |
Adam6 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
IGL01285
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
113507528-113510034 bp(+) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
A to T
at 113509893 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Tyrosine
at position 755
(*755Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059315
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053086]
|
AlphaFold |
B2RSY5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000053086
AA Change: *755Y
|
SMART Domains |
Protein: ENSMUSP00000059315 Gene: ENSMUSG00000043945 AA Change: *755Y
Domain | Start | End | E-Value | Type |
Pfam:Pep_M12B_propep
|
30 |
167 |
6.9e-17 |
PFAM |
Pfam:Reprolysin
|
222 |
407 |
4e-15 |
PFAM |
DISIN
|
427 |
502 |
1.63e-33 |
SMART |
ACR
|
503 |
640 |
7.46e-62 |
SMART |
transmembrane domain
|
704 |
726 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
T |
C |
8: 25,271,610 (GRCm39) |
N599S |
probably benign |
Het |
Adgrb3 |
G |
T |
1: 25,132,868 (GRCm39) |
T1166K |
probably benign |
Het |
Ano1 |
T |
C |
7: 144,198,479 (GRCm39) |
Y345C |
probably benign |
Het |
Ano1 |
A |
G |
7: 144,149,275 (GRCm39) |
V862A |
probably damaging |
Het |
Asap2 |
C |
T |
12: 21,279,264 (GRCm39) |
A382V |
probably damaging |
Het |
Asb18 |
A |
G |
1: 89,923,963 (GRCm39) |
V100A |
probably benign |
Het |
Bdnf |
G |
A |
2: 109,553,931 (GRCm39) |
A102T |
probably benign |
Het |
Ccser2 |
G |
A |
14: 36,660,626 (GRCm39) |
T509M |
probably damaging |
Het |
Cfap47 |
A |
G |
X: 78,532,764 (GRCm39) |
I767T |
possibly damaging |
Het |
Des |
G |
A |
1: 75,339,227 (GRCm39) |
A251T |
probably benign |
Het |
Dmd |
C |
T |
X: 84,153,590 (GRCm39) |
Q3224* |
probably null |
Het |
Endog |
G |
T |
2: 30,061,975 (GRCm39) |
|
probably null |
Het |
Ggt7 |
A |
G |
2: 155,342,691 (GRCm39) |
V269A |
probably damaging |
Het |
Gucy2c |
A |
G |
6: 136,686,739 (GRCm39) |
F808S |
probably damaging |
Het |
Hira |
A |
G |
16: 18,730,930 (GRCm39) |
T210A |
probably benign |
Het |
Ifitm5 |
C |
A |
7: 140,530,076 (GRCm39) |
R16L |
probably benign |
Het |
Igdcc4 |
T |
C |
9: 65,031,273 (GRCm39) |
C404R |
probably damaging |
Het |
Ints7 |
G |
A |
1: 191,347,890 (GRCm39) |
R754H |
probably benign |
Het |
Irf9 |
A |
G |
14: 55,845,058 (GRCm39) |
E258G |
probably damaging |
Het |
Megf11 |
T |
C |
9: 64,567,728 (GRCm39) |
C406R |
probably damaging |
Het |
Olfml1 |
A |
G |
7: 107,189,364 (GRCm39) |
N143S |
possibly damaging |
Het |
Or4m1 |
A |
G |
14: 50,557,713 (GRCm39) |
F193S |
possibly damaging |
Het |
Or6c66b |
T |
A |
10: 129,376,711 (GRCm39) |
F102I |
probably benign |
Het |
Or7g30 |
A |
G |
9: 19,352,266 (GRCm39) |
D19G |
probably benign |
Het |
Otof |
G |
T |
5: 30,562,527 (GRCm39) |
Q254K |
probably damaging |
Het |
Pate7 |
A |
T |
9: 35,688,044 (GRCm39) |
N65K |
possibly damaging |
Het |
Plcd3 |
A |
G |
11: 102,968,696 (GRCm39) |
F332L |
probably benign |
Het |
Plxnc1 |
T |
C |
10: 94,635,230 (GRCm39) |
D1332G |
probably damaging |
Het |
Rnasel |
A |
T |
1: 153,634,130 (GRCm39) |
D521V |
probably benign |
Het |
Sema5a |
T |
A |
15: 32,575,143 (GRCm39) |
V417D |
possibly damaging |
Het |
Senp6 |
G |
A |
9: 80,044,000 (GRCm39) |
R877Q |
probably benign |
Het |
Shroom2 |
A |
T |
X: 151,442,353 (GRCm39) |
D937E |
probably damaging |
Het |
Slc35a3 |
A |
G |
3: 116,488,262 (GRCm39) |
S142P |
probably damaging |
Het |
Srpx |
A |
T |
X: 9,905,298 (GRCm39) |
V398E |
probably damaging |
Het |
Stk10 |
A |
T |
11: 32,560,653 (GRCm39) |
K669N |
possibly damaging |
Het |
Sumf2 |
A |
G |
5: 129,878,811 (GRCm39) |
D49G |
probably damaging |
Het |
Syde1 |
T |
A |
10: 78,424,721 (GRCm39) |
E370D |
probably damaging |
Het |
Tas2r115 |
G |
T |
6: 132,714,641 (GRCm39) |
S103R |
probably damaging |
Het |
Top2a |
G |
A |
11: 98,896,985 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
A |
2: 76,550,842 (GRCm39) |
T23190S |
probably damaging |
Het |
Ttyh3 |
C |
A |
5: 140,615,167 (GRCm39) |
C407F |
probably damaging |
Het |
Vmn2r27 |
G |
T |
6: 124,169,370 (GRCm39) |
H587N |
possibly damaging |
Het |
Vmn2r74 |
A |
G |
7: 85,606,692 (GRCm39) |
I218T |
possibly damaging |
Het |
Vsig10 |
A |
G |
5: 117,462,954 (GRCm39) |
N60S |
probably benign |
Het |
Zc3h7a |
A |
G |
16: 10,956,979 (GRCm39) |
S877P |
probably damaging |
Het |
Zfp979 |
G |
T |
4: 147,699,853 (GRCm39) |
T29N |
probably damaging |
Het |
Znfx1 |
G |
A |
2: 166,880,615 (GRCm39) |
R390C |
possibly damaging |
Het |
|
Other mutations in Adam6a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00580:Adam6a
|
APN |
12 |
113,508,845 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00896:Adam6a
|
APN |
12 |
113,509,030 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL01146:Adam6a
|
APN |
12 |
113,507,840 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01839:Adam6a
|
APN |
12 |
113,508,242 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01906:Adam6a
|
APN |
12 |
113,507,951 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02306:Adam6a
|
APN |
12 |
113,509,343 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03146:Adam6a
|
APN |
12 |
113,509,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03176:Adam6a
|
APN |
12 |
113,509,822 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03365:Adam6a
|
APN |
12 |
113,507,765 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03373:Adam6a
|
APN |
12 |
113,509,172 (GRCm39) |
missense |
possibly damaging |
0.55 |
PIT4802001:Adam6a
|
UTSW |
12 |
113,509,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R0091:Adam6a
|
UTSW |
12 |
113,507,849 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0149:Adam6a
|
UTSW |
12 |
113,509,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R0348:Adam6a
|
UTSW |
12 |
113,508,337 (GRCm39) |
missense |
probably damaging |
0.99 |
R0376:Adam6a
|
UTSW |
12 |
113,508,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R1471:Adam6a
|
UTSW |
12 |
113,508,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R1474:Adam6a
|
UTSW |
12 |
113,508,069 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1553:Adam6a
|
UTSW |
12 |
113,508,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R1679:Adam6a
|
UTSW |
12 |
113,508,376 (GRCm39) |
missense |
probably benign |
0.00 |
R1808:Adam6a
|
UTSW |
12 |
113,508,334 (GRCm39) |
missense |
probably benign |
0.00 |
R1826:Adam6a
|
UTSW |
12 |
113,509,742 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1856:Adam6a
|
UTSW |
12 |
113,508,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R1916:Adam6a
|
UTSW |
12 |
113,509,556 (GRCm39) |
missense |
probably benign |
|
R2011:Adam6a
|
UTSW |
12 |
113,508,998 (GRCm39) |
missense |
probably benign |
0.09 |
R2049:Adam6a
|
UTSW |
12 |
113,508,049 (GRCm39) |
missense |
probably benign |
0.17 |
R2364:Adam6a
|
UTSW |
12 |
113,508,250 (GRCm39) |
missense |
probably benign |
0.05 |
R3820:Adam6a
|
UTSW |
12 |
113,507,798 (GRCm39) |
missense |
probably benign |
0.00 |
R4119:Adam6a
|
UTSW |
12 |
113,508,194 (GRCm39) |
missense |
probably benign |
0.06 |
R4540:Adam6a
|
UTSW |
12 |
113,508,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R4627:Adam6a
|
UTSW |
12 |
113,508,569 (GRCm39) |
missense |
probably benign |
|
R4665:Adam6a
|
UTSW |
12 |
113,507,992 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4859:Adam6a
|
UTSW |
12 |
113,509,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R4997:Adam6a
|
UTSW |
12 |
113,508,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R5270:Adam6a
|
UTSW |
12 |
113,507,747 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5751:Adam6a
|
UTSW |
12 |
113,508,447 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5775:Adam6a
|
UTSW |
12 |
113,509,886 (GRCm39) |
missense |
possibly damaging |
0.47 |
R5863:Adam6a
|
UTSW |
12 |
113,507,987 (GRCm39) |
missense |
probably benign |
0.01 |
R6154:Adam6a
|
UTSW |
12 |
113,509,292 (GRCm39) |
missense |
probably benign |
0.11 |
R6313:Adam6a
|
UTSW |
12 |
113,508,670 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6316:Adam6a
|
UTSW |
12 |
113,509,196 (GRCm39) |
missense |
probably benign |
0.27 |
R6706:Adam6a
|
UTSW |
12 |
113,508,886 (GRCm39) |
missense |
probably benign |
0.00 |
R6845:Adam6a
|
UTSW |
12 |
113,507,717 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7134:Adam6a
|
UTSW |
12 |
113,508,655 (GRCm39) |
missense |
probably benign |
0.04 |
R7179:Adam6a
|
UTSW |
12 |
113,509,291 (GRCm39) |
missense |
probably benign |
0.02 |
R7206:Adam6a
|
UTSW |
12 |
113,509,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R7230:Adam6a
|
UTSW |
12 |
113,509,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R7296:Adam6a
|
UTSW |
12 |
113,509,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R7676:Adam6a
|
UTSW |
12 |
113,508,196 (GRCm39) |
missense |
probably benign |
0.00 |
R7730:Adam6a
|
UTSW |
12 |
113,507,660 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7743:Adam6a
|
UTSW |
12 |
113,508,152 (GRCm39) |
missense |
probably benign |
|
R7841:Adam6a
|
UTSW |
12 |
113,509,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R8356:Adam6a
|
UTSW |
12 |
113,509,757 (GRCm39) |
missense |
probably benign |
0.08 |
R8531:Adam6a
|
UTSW |
12 |
113,508,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R9568:Adam6a
|
UTSW |
12 |
113,508,020 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9624:Adam6a
|
UTSW |
12 |
113,509,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R9679:Adam6a
|
UTSW |
12 |
113,509,542 (GRCm39) |
missense |
probably benign |
0.00 |
R9680:Adam6a
|
UTSW |
12 |
113,509,484 (GRCm39) |
nonsense |
probably null |
|
X0027:Adam6a
|
UTSW |
12 |
113,508,863 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Adam6a
|
UTSW |
12 |
113,508,941 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Posted On |
2013-10-07 |