Incidental Mutation 'IGL00229:Adam6b'
| ID |
2178 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adam6b
|
| Ensembl Gene |
ENSMUSG00000051804 |
| Gene Name |
a disintegrin and metallopeptidase domain 6B |
| Synonyms |
4930523C11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL00229
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
113453185-113455455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 113455013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 610
(R610H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063317]
|
| AlphaFold |
Q6IMH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063317
AA Change: R610H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: R610H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
30 |
167 |
1.1e-16 |
PFAM |
|
Pfam:Reprolysin
|
223 |
407 |
1.1e-14 |
PFAM |
|
DISIN
|
427 |
502 |
9.2e-33 |
SMART |
|
ACR
|
503 |
640 |
2.74e-60 |
SMART |
|
transmembrane domain
|
704 |
726 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,964,603 (GRCm39) |
T929A |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,311,685 (GRCm39) |
M1314K |
probably benign |
Het |
| Alg6 |
T |
A |
4: 99,641,291 (GRCm39) |
F152I |
probably damaging |
Het |
| Aopep |
A |
G |
13: 63,347,314 (GRCm39) |
|
probably benign |
Het |
| Arid5b |
A |
G |
10: 67,964,805 (GRCm39) |
S289P |
probably damaging |
Het |
| Axin1 |
T |
C |
17: 26,413,046 (GRCm39) |
F780L |
probably damaging |
Het |
| C9 |
C |
T |
15: 6,512,712 (GRCm39) |
S278L |
possibly damaging |
Het |
| Calr4 |
A |
T |
4: 109,101,312 (GRCm39) |
I65F |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,359,327 (GRCm39) |
V260A |
probably benign |
Het |
| Ddx25 |
T |
C |
9: 35,454,891 (GRCm39) |
|
probably benign |
Het |
| Dppa4 |
A |
G |
16: 48,111,446 (GRCm39) |
T92A |
possibly damaging |
Het |
| Ercc5 |
T |
C |
1: 44,203,058 (GRCm39) |
Y232H |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,895,334 (GRCm39) |
|
probably null |
Het |
| Fam149a |
A |
G |
8: 45,804,823 (GRCm39) |
V253A |
probably damaging |
Het |
| Fam209 |
C |
T |
2: 172,316,102 (GRCm39) |
T159I |
probably damaging |
Het |
| Gcfc2 |
A |
T |
6: 81,912,996 (GRCm39) |
N265I |
probably damaging |
Het |
| Glud1 |
T |
C |
14: 34,058,087 (GRCm39) |
V366A |
probably benign |
Het |
| Hdac10 |
T |
C |
15: 89,012,645 (GRCm39) |
T3A |
probably damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,286,670 (GRCm39) |
S54P |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,045,683 (GRCm39) |
Y2561C |
probably damaging |
Het |
| Klhl30 |
A |
G |
1: 91,281,879 (GRCm39) |
E160G |
possibly damaging |
Het |
| Kmt2d |
A |
T |
15: 98,760,214 (GRCm39) |
S1015T |
unknown |
Het |
| Lactb2 |
A |
G |
1: 13,730,598 (GRCm39) |
M26T |
probably damaging |
Het |
| Lactbl1 |
A |
T |
4: 136,358,362 (GRCm39) |
D111V |
probably damaging |
Het |
| Lig4 |
T |
C |
8: 10,022,775 (GRCm39) |
Y335C |
probably damaging |
Het |
| Lrrc8e |
T |
A |
8: 4,285,921 (GRCm39) |
D715E |
probably benign |
Het |
| Med6 |
A |
T |
12: 81,626,348 (GRCm39) |
V142D |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mettl13 |
A |
G |
1: 162,363,434 (GRCm39) |
V600A |
possibly damaging |
Het |
| Mpdz |
A |
T |
4: 81,228,461 (GRCm39) |
C1314* |
probably null |
Het |
| Nbeal2 |
A |
G |
9: 110,464,937 (GRCm39) |
V1009A |
probably damaging |
Het |
| Nmur2 |
A |
G |
11: 55,931,603 (GRCm39) |
L36P |
probably damaging |
Het |
| Nudt2 |
T |
A |
4: 41,480,474 (GRCm39) |
L119Q |
probably damaging |
Het |
| Or5b117 |
T |
C |
19: 13,431,204 (GRCm39) |
M226V |
possibly damaging |
Het |
| Osbpl3 |
C |
T |
6: 50,300,048 (GRCm39) |
E519K |
probably damaging |
Het |
| Pak6 |
A |
T |
2: 118,520,326 (GRCm39) |
T106S |
possibly damaging |
Het |
| Pggt1b |
T |
G |
18: 46,413,786 (GRCm39) |
Q34P |
probably benign |
Het |
| Phactr4 |
T |
C |
4: 132,098,303 (GRCm39) |
T322A |
possibly damaging |
Het |
| Plekhj1 |
T |
C |
10: 80,632,436 (GRCm39) |
|
probably null |
Het |
| Pnpt1 |
T |
C |
11: 29,104,217 (GRCm39) |
|
probably null |
Het |
| Pramel32 |
A |
G |
4: 88,547,290 (GRCm39) |
I214T |
probably damaging |
Het |
| Prr14l |
T |
C |
5: 32,988,020 (GRCm39) |
I492V |
probably benign |
Het |
| Ranbp2 |
C |
A |
10: 58,313,078 (GRCm39) |
A1266E |
probably damaging |
Het |
| Riok3 |
G |
A |
18: 12,270,077 (GRCm39) |
D140N |
probably damaging |
Het |
| Rsph4a |
G |
A |
10: 33,790,339 (GRCm39) |
E643K |
probably damaging |
Het |
| Scara3 |
T |
G |
14: 66,170,570 (GRCm39) |
E103A |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,938,609 (GRCm39) |
V33A |
probably damaging |
Het |
| Slc38a4 |
A |
G |
15: 96,897,375 (GRCm39) |
F480S |
probably damaging |
Het |
| Slc44a1 |
G |
A |
4: 53,543,571 (GRCm39) |
V372M |
probably damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,806,897 (GRCm39) |
Y728C |
probably benign |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Spidr |
A |
T |
16: 15,713,442 (GRCm39) |
L847Q |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,667,527 (GRCm39) |
S857P |
probably benign |
Het |
| Syde1 |
A |
G |
10: 78,421,643 (GRCm39) |
V636A |
probably damaging |
Het |
| Syna |
A |
G |
5: 134,588,571 (GRCm39) |
L126P |
possibly damaging |
Het |
| Taar2 |
A |
G |
10: 23,817,266 (GRCm39) |
T269A |
possibly damaging |
Het |
| Tapbp |
C |
T |
17: 34,144,678 (GRCm39) |
T258I |
probably damaging |
Het |
| Tcf20 |
T |
A |
15: 82,741,343 (GRCm39) |
Q36L |
possibly damaging |
Het |
| Tmem131l |
A |
T |
3: 83,849,807 (GRCm39) |
M260K |
probably damaging |
Het |
| Tnc |
T |
A |
4: 63,935,061 (GRCm39) |
|
probably benign |
Het |
| Ugp2 |
T |
A |
11: 21,304,345 (GRCm39) |
E27D |
probably benign |
Het |
| Vps35l |
T |
A |
7: 118,403,414 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
A |
T |
17: 15,148,572 (GRCm39) |
C140* |
probably null |
Het |
| Wnt2b |
T |
C |
3: 104,860,449 (GRCm39) |
T153A |
possibly damaging |
Het |
| Xirp2 |
A |
T |
2: 67,343,719 (GRCm39) |
T1987S |
probably benign |
Het |
| Zfp36l1 |
C |
A |
12: 80,157,238 (GRCm39) |
G48C |
probably damaging |
Het |
| Zfp474 |
A |
T |
18: 52,771,565 (GRCm39) |
I73F |
possibly damaging |
Het |
| Zfp790 |
T |
A |
7: 29,527,988 (GRCm39) |
F224L |
probably benign |
Het |
|
| Other mutations in Adam6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00800:Adam6b
|
APN |
12 |
113,454,062 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01456:Adam6b
|
APN |
12 |
113,455,083 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02232:Adam6b
|
APN |
12 |
113,454,764 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03039:Adam6b
|
APN |
12 |
113,454,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03399:Adam6b
|
APN |
12 |
113,454,728 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03412:Adam6b
|
APN |
12 |
113,455,390 (GRCm39) |
nonsense |
probably null |
|
|
R0234:Adam6b
|
UTSW |
12 |
113,454,230 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0234:Adam6b
|
UTSW |
12 |
113,454,230 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0373:Adam6b
|
UTSW |
12 |
113,454,275 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0402:Adam6b
|
UTSW |
12 |
113,453,615 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0420:Adam6b
|
UTSW |
12 |
113,453,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0573:Adam6b
|
UTSW |
12 |
113,455,278 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0884:Adam6b
|
UTSW |
12 |
113,454,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1489:Adam6b
|
UTSW |
12 |
113,455,071 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1542:Adam6b
|
UTSW |
12 |
113,454,559 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1591:Adam6b
|
UTSW |
12 |
113,453,452 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1596:Adam6b
|
UTSW |
12 |
113,454,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1675:Adam6b
|
UTSW |
12 |
113,454,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1699:Adam6b
|
UTSW |
12 |
113,454,205 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1818:Adam6b
|
UTSW |
12 |
113,454,876 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1829:Adam6b
|
UTSW |
12 |
113,453,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Adam6b
|
UTSW |
12 |
113,455,442 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1955:Adam6b
|
UTSW |
12 |
113,455,436 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2040:Adam6b
|
UTSW |
12 |
113,454,364 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3820:Adam6b
|
UTSW |
12 |
113,453,984 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4112:Adam6b
|
UTSW |
12 |
113,453,256 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4434:Adam6b
|
UTSW |
12 |
113,454,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4435:Adam6b
|
UTSW |
12 |
113,454,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4437:Adam6b
|
UTSW |
12 |
113,454,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4438:Adam6b
|
UTSW |
12 |
113,454,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4509:Adam6b
|
UTSW |
12 |
113,453,972 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5034:Adam6b
|
UTSW |
12 |
113,454,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5316:Adam6b
|
UTSW |
12 |
113,455,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5330:Adam6b
|
UTSW |
12 |
113,454,200 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R5331:Adam6b
|
UTSW |
12 |
113,454,200 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R5604:Adam6b
|
UTSW |
12 |
113,454,420 (GRCm39) |
nonsense |
probably null |
|
|
R5698:Adam6b
|
UTSW |
12 |
113,455,083 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5877:Adam6b
|
UTSW |
12 |
113,453,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6235:Adam6b
|
UTSW |
12 |
113,455,330 (GRCm39) |
missense |
probably benign |
|
|
R6254:Adam6b
|
UTSW |
12 |
113,453,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6371:Adam6b
|
UTSW |
12 |
113,453,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6617:Adam6b
|
UTSW |
12 |
113,454,152 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6768:Adam6b
|
UTSW |
12 |
113,453,863 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7002:Adam6b
|
UTSW |
12 |
113,453,327 (GRCm39) |
nonsense |
probably null |
|
|
R7003:Adam6b
|
UTSW |
12 |
113,453,662 (GRCm39) |
nonsense |
probably null |
|
|
R7049:Adam6b
|
UTSW |
12 |
113,454,122 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7313:Adam6b
|
UTSW |
12 |
113,454,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7372:Adam6b
|
UTSW |
12 |
113,453,784 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7684:Adam6b
|
UTSW |
12 |
113,455,196 (GRCm39) |
nonsense |
probably null |
|
|
R7777:Adam6b
|
UTSW |
12 |
113,453,758 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7781:Adam6b
|
UTSW |
12 |
113,454,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7857:Adam6b
|
UTSW |
12 |
113,454,104 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8196:Adam6b
|
UTSW |
12 |
113,454,087 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8423:Adam6b
|
UTSW |
12 |
113,454,530 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8680:Adam6b
|
UTSW |
12 |
113,454,371 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8762:Adam6b
|
UTSW |
12 |
113,453,227 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8792:Adam6b
|
UTSW |
12 |
113,455,310 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8806:Adam6b
|
UTSW |
12 |
113,455,418 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8880:Adam6b
|
UTSW |
12 |
113,454,764 (GRCm39) |
missense |
probably benign |
|
|
R8977:Adam6b
|
UTSW |
12 |
113,453,996 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8987:Adam6b
|
UTSW |
12 |
113,454,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9101:Adam6b
|
UTSW |
12 |
113,455,376 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9103:Adam6b
|
UTSW |
12 |
113,454,558 (GRCm39) |
nonsense |
probably null |
|
|
R9334:Adam6b
|
UTSW |
12 |
113,454,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9641:Adam6b
|
UTSW |
12 |
113,454,176 (GRCm39) |
missense |
probably benign |
|
|
R9683:Adam6b
|
UTSW |
12 |
113,454,176 (GRCm39) |
missense |
probably benign |
|
|
R9796:Adam6b
|
UTSW |
12 |
113,454,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF012:Adam6b
|
UTSW |
12 |
113,453,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF022:Adam6b
|
UTSW |
12 |
113,455,289 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
T0722:Adam6b
|
UTSW |
12 |
113,454,888 (GRCm39) |
missense |
probably benign |
0.11 |
|
T0722:Adam6b
|
UTSW |
12 |
113,453,197 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2011-12-09 |
Incidental Mutation