Incidental Mutation 'R0376:Adam6a'
| ID |
30770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam6a
|
| Ensembl Gene |
ENSMUSG00000043945 |
| Gene Name |
a disintegrin and metallopeptidase domain 6A |
| Synonyms |
Adam6 |
| MMRRC Submission |
038582-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R0376 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
113507528-113510034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113508310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 228
(Y228H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053086]
|
| AlphaFold |
B2RSY5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053086
AA Change: Y228H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059315
Gene: ENSMUSG00000043945
AA Change: Y228H
| 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 |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.0%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
G |
1: 59,254,724 (GRCm39) |
F211S |
probably benign |
Het |
| Ankrd12 |
T |
A |
17: 66,360,004 (GRCm39) |
Q11L |
probably damaging |
Het |
| Anxa5 |
T |
C |
3: 36,514,637 (GRCm39) |
R115G |
probably damaging |
Het |
| Arhgap10 |
T |
C |
8: 78,177,453 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
T |
A |
11: 72,873,528 (GRCm39) |
D782E |
probably damaging |
Het |
| Bcr |
G |
T |
10: 74,981,159 (GRCm39) |
L659F |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,549,015 (GRCm39) |
|
probably benign |
Het |
| Camp |
C |
T |
9: 109,677,467 (GRCm39) |
C122Y |
probably damaging |
Het |
| Cimip1 |
G |
A |
2: 173,370,120 (GRCm39) |
E132K |
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,600,776 (GRCm39) |
S769R |
probably benign |
Het |
| Cyp2j6 |
T |
A |
4: 96,414,260 (GRCm39) |
K335I |
probably damaging |
Het |
| Cyp3a11 |
A |
C |
5: 145,799,262 (GRCm39) |
Y308* |
probably null |
Het |
| Flnb |
G |
A |
14: 7,946,014 (GRCm38) |
|
probably null |
Het |
| Frmd4a |
G |
T |
2: 4,577,198 (GRCm39) |
M351I |
probably damaging |
Het |
| Gabrg2 |
C |
T |
11: 41,807,142 (GRCm39) |
S365N |
possibly damaging |
Het |
| Ggn |
T |
C |
7: 28,872,447 (GRCm39) |
V609A |
possibly damaging |
Het |
| H60c |
T |
C |
10: 3,210,435 (GRCm39) |
|
probably benign |
Het |
| Hexd |
T |
A |
11: 121,108,991 (GRCm39) |
|
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,245,878 (GRCm39) |
T1282A |
probably benign |
Het |
| Ikzf4 |
T |
C |
10: 128,468,625 (GRCm39) |
N618S |
probably benign |
Het |
| Ints14 |
A |
G |
9: 64,891,272 (GRCm39) |
K418E |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,373,627 (GRCm39) |
E1454G |
probably benign |
Het |
| Kif13b |
T |
C |
14: 64,994,853 (GRCm39) |
|
probably benign |
Het |
| Krt71 |
A |
C |
15: 101,646,505 (GRCm39) |
F328C |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 26,891,542 (GRCm39) |
T2524A |
possibly damaging |
Het |
| Mfn2 |
C |
T |
4: 147,969,983 (GRCm39) |
V363I |
probably benign |
Het |
| Mkln1 |
A |
T |
6: 31,454,953 (GRCm39) |
D496V |
probably benign |
Het |
| Or2q1 |
A |
T |
6: 42,795,226 (GRCm39) |
M274L |
probably benign |
Het |
| Patj |
T |
A |
4: 98,457,224 (GRCm39) |
I1242N |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 82,021,353 (GRCm39) |
|
probably benign |
Het |
| Plcb2 |
T |
C |
2: 118,547,721 (GRCm39) |
E502G |
probably damaging |
Het |
| Plppr4 |
G |
T |
3: 117,116,740 (GRCm39) |
H314Q |
probably benign |
Het |
| Prkcsh |
A |
G |
9: 21,921,547 (GRCm39) |
|
probably benign |
Het |
| Prr14 |
C |
T |
7: 127,075,815 (GRCm39) |
H181Y |
probably benign |
Het |
| Pus3 |
A |
T |
9: 35,477,718 (GRCm39) |
M317L |
possibly damaging |
Het |
| Pwwp2a |
T |
A |
11: 43,595,499 (GRCm39) |
D221E |
probably benign |
Het |
| Rbm15 |
T |
C |
3: 107,238,254 (GRCm39) |
S715G |
probably benign |
Het |
| Rbm28 |
A |
G |
6: 29,158,927 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
A |
T |
14: 70,034,184 (GRCm39) |
V347E |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,880,925 (GRCm39) |
R161Q |
probably damaging |
Het |
| Scgb1b27 |
C |
T |
7: 33,721,322 (GRCm39) |
T70I |
possibly damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,951,651 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spaca9 |
A |
G |
2: 28,583,672 (GRCm39) |
V104A |
probably benign |
Het |
| Spag7 |
T |
C |
11: 70,560,016 (GRCm39) |
|
probably benign |
Het |
| Sugp1 |
A |
G |
8: 70,505,288 (GRCm39) |
D85G |
probably damaging |
Het |
| Sun1 |
A |
G |
5: 139,212,454 (GRCm39) |
|
probably benign |
Het |
| Tcp11l1 |
C |
A |
2: 104,527,850 (GRCm39) |
|
probably benign |
Het |
| Tead3 |
A |
C |
17: 28,560,339 (GRCm39) |
D88E |
probably damaging |
Het |
| Tecpr1 |
A |
T |
5: 144,144,294 (GRCm39) |
V636E |
possibly damaging |
Het |
| Tldc2 |
T |
C |
2: 156,937,225 (GRCm39) |
W147R |
probably damaging |
Het |
| Tmem161b |
A |
G |
13: 84,440,502 (GRCm39) |
T125A |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,753,149 (GRCm39) |
M1825V |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,608,062 (GRCm39) |
F186L |
probably damaging |
Het |
| U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
| Zc3h7a |
T |
C |
16: 10,974,066 (GRCm39) |
M240V |
probably benign |
Het |
| Zc3hc1 |
G |
C |
6: 30,372,789 (GRCm39) |
S351W |
probably damaging |
Het |
| Zfp366 |
T |
C |
13: 99,370,759 (GRCm39) |
M493T |
probably benign |
Het |
| Zfp93 |
C |
T |
7: 23,975,286 (GRCm39) |
P424S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCCTATGAATGCATGGAAGCAC -3'
(R):5'- GGATTAACAGCATCATCTCCTGGCG -3'
Sequencing Primer
(F):5'- CTGGAGCCATAATACAGGTTCTC -3'
(R):5'- CTCTCTCATAGAAAGTATGAGCCTGC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation