Incidental Mutation 'IGL02306:Adam6a'
| ID |
287585 |
| 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 # |
IGL02306
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
113507528-113510034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 113509343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 572
(L572Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053086]
|
| AlphaFold |
B2RSY5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053086
AA Change: L572Q
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000059315
Gene: ENSMUSG00000043945
AA Change: L572Q
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,952,044 (GRCm39) |
Y680C |
probably damaging |
Het |
| Abcb11 |
C |
T |
2: 69,095,801 (GRCm39) |
W846* |
probably null |
Het |
| Adam34 |
G |
A |
8: 44,103,522 (GRCm39) |
R708C |
probably benign |
Het |
| Aldoart2 |
A |
G |
12: 55,612,489 (GRCm39) |
Y138C |
probably damaging |
Het |
| Amigo1 |
T |
A |
3: 108,095,302 (GRCm39) |
F267Y |
probably benign |
Het |
| Car7 |
A |
G |
8: 105,275,630 (GRCm39) |
Y137C |
probably damaging |
Het |
| Ccar2 |
A |
T |
14: 70,379,471 (GRCm39) |
M509K |
probably benign |
Het |
| Cd160 |
A |
T |
3: 96,716,139 (GRCm39) |
I17N |
possibly damaging |
Het |
| Cmya5 |
C |
T |
13: 93,234,527 (GRCm39) |
G187D |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,018,701 (GRCm39) |
V555E |
possibly damaging |
Het |
| Cstf1 |
C |
T |
2: 172,214,891 (GRCm39) |
T4I |
probably benign |
Het |
| Cyp2a12 |
A |
G |
7: 26,732,008 (GRCm39) |
K250E |
probably damaging |
Het |
| Deaf1 |
T |
C |
7: 140,904,094 (GRCm39) |
|
probably null |
Het |
| Dse |
C |
T |
10: 34,036,130 (GRCm39) |
E249K |
probably damaging |
Het |
| E4f1 |
G |
T |
17: 24,665,903 (GRCm39) |
R88S |
probably damaging |
Het |
| Fam83a |
A |
C |
15: 57,858,704 (GRCm39) |
D248A |
probably damaging |
Het |
| Fhip2b |
T |
C |
14: 70,826,437 (GRCm39) |
D217G |
probably benign |
Het |
| Hadhb |
T |
A |
5: 30,371,747 (GRCm39) |
L66Q |
probably null |
Het |
| Kalrn |
T |
C |
16: 34,130,897 (GRCm39) |
E440G |
probably damaging |
Het |
| Kif3b |
A |
G |
2: 153,162,572 (GRCm39) |
Y527C |
probably damaging |
Het |
| Krt4 |
T |
C |
15: 101,829,740 (GRCm39) |
I263V |
probably benign |
Het |
| Krtap29-1 |
A |
T |
11: 99,869,092 (GRCm39) |
V263E |
probably damaging |
Het |
| Mms19 |
A |
G |
19: 41,954,703 (GRCm39) |
L72P |
probably damaging |
Het |
| Mylpf |
T |
A |
7: 126,812,330 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,560,750 (GRCm39) |
I776F |
probably benign |
Het |
| Nedd4l |
T |
G |
18: 65,306,025 (GRCm39) |
S292R |
possibly damaging |
Het |
| Nlrc3 |
A |
C |
16: 3,782,688 (GRCm39) |
D240E |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,890,497 (GRCm39) |
I7345N |
unknown |
Het |
| Or4c102 |
A |
T |
2: 88,422,950 (GRCm39) |
K267N |
probably benign |
Het |
| Ostn |
A |
T |
16: 27,165,691 (GRCm39) |
S127C |
probably damaging |
Het |
| Patl1 |
A |
G |
19: 11,920,250 (GRCm39) |
K735E |
possibly damaging |
Het |
| Pde12 |
A |
G |
14: 26,389,533 (GRCm39) |
L392P |
possibly damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,665,585 (GRCm39) |
I213V |
probably benign |
Het |
| Plxna4 |
T |
A |
6: 32,183,059 (GRCm39) |
Y948F |
probably benign |
Het |
| Prlhr |
A |
T |
19: 60,456,353 (GRCm39) |
V71E |
probably damaging |
Het |
| Prlr |
C |
T |
15: 10,328,760 (GRCm39) |
P412S |
probably benign |
Het |
| Prmt9 |
A |
G |
8: 78,287,447 (GRCm39) |
K196R |
probably benign |
Het |
| Rundc3a |
T |
A |
11: 102,291,764 (GRCm39) |
L387Q |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,664,459 (GRCm39) |
I1611V |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,677,744 (GRCm39) |
|
probably null |
Het |
| Scart1 |
T |
C |
7: 139,803,269 (GRCm39) |
C278R |
probably damaging |
Het |
| Sfxn2 |
T |
A |
19: 46,578,987 (GRCm39) |
M240K |
probably damaging |
Het |
| Skor2 |
T |
C |
18: 76,950,374 (GRCm39) |
S901P |
probably benign |
Het |
| Smad4 |
T |
C |
18: 73,795,940 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
T |
G |
4: 130,258,893 (GRCm39) |
C100W |
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,097,511 (GRCm39) |
D19E |
probably damaging |
Het |
| Sult1d1 |
T |
A |
5: 87,703,914 (GRCm39) |
|
probably benign |
Het |
| Wdr59 |
G |
A |
8: 112,219,365 (GRCm39) |
L231F |
probably 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 |
|
IGL01285:Adam6a
|
APN |
12 |
113,509,893 (GRCm39) |
makesense |
probably null |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation