Incidental Mutation 'R1596:Adam6b'
| ID |
175826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam6b
|
| Ensembl Gene |
ENSMUSG00000051804 |
| Gene Name |
a disintegrin and metallopeptidase domain 6B |
| Synonyms |
4930523C11Rik |
| MMRRC Submission |
039633-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R1596 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
113453185-113455455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 113454646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 488
(Y488N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063317]
|
| AlphaFold |
Q6IMH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063317
AA Change: Y488N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: Y488N
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 87.7%
|
| Validation Efficiency |
97% (70/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
A |
G |
15: 37,426,018 (GRCm39) |
|
probably benign |
Het |
| Abca8a |
T |
A |
11: 109,958,886 (GRCm39) |
Y745F |
possibly damaging |
Het |
| Abl1 |
A |
G |
2: 31,680,350 (GRCm39) |
N316S |
probably damaging |
Het |
| Ackr2 |
T |
C |
9: 121,738,278 (GRCm39) |
F218L |
probably damaging |
Het |
| Arhgap10 |
A |
G |
8: 78,177,326 (GRCm39) |
I103T |
possibly damaging |
Het |
| Atm |
A |
G |
9: 53,364,678 (GRCm39) |
V2669A |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,126,594 (GRCm39) |
K1117E |
probably damaging |
Het |
| Brinp3 |
T |
C |
1: 146,390,520 (GRCm39) |
V22A |
probably benign |
Het |
| Casp8 |
G |
T |
1: 58,870,833 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,153,930 (GRCm39) |
K626N |
possibly damaging |
Het |
| Clcn6 |
T |
A |
4: 148,107,836 (GRCm39) |
S193C |
probably damaging |
Het |
| Col11a1 |
C |
T |
3: 113,946,262 (GRCm39) |
|
probably benign |
Het |
| Csn1s2b |
T |
A |
5: 87,966,917 (GRCm39) |
|
probably benign |
Het |
| Cst5 |
T |
C |
2: 149,247,329 (GRCm39) |
V15A |
unknown |
Het |
| Cttnbp2 |
A |
G |
6: 18,408,591 (GRCm39) |
F1010S |
probably damaging |
Het |
| Dlg2 |
T |
C |
7: 92,080,259 (GRCm39) |
V614A |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,415,104 (GRCm39) |
Y667C |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,856,727 (GRCm39) |
|
probably benign |
Het |
| Fam83c |
C |
T |
2: 155,672,982 (GRCm39) |
|
probably null |
Het |
| Fbxw20 |
C |
T |
9: 109,050,368 (GRCm39) |
C419Y |
probably damaging |
Het |
| Fgd2 |
G |
A |
17: 29,595,904 (GRCm39) |
V521I |
probably benign |
Het |
| Frrs1 |
A |
G |
3: 116,676,848 (GRCm39) |
|
probably benign |
Het |
| Gli3 |
C |
A |
13: 15,900,056 (GRCm39) |
Q1148K |
possibly damaging |
Het |
| Hdac5 |
G |
T |
11: 102,095,482 (GRCm39) |
|
probably null |
Het |
| Ice1 |
C |
T |
13: 70,753,014 (GRCm39) |
R1024H |
possibly damaging |
Het |
| Irak3 |
A |
T |
10: 120,018,451 (GRCm39) |
I99N |
probably damaging |
Het |
| Klhl31 |
A |
G |
9: 77,557,356 (GRCm39) |
D24G |
probably damaging |
Het |
| Lrba |
C |
T |
3: 86,257,611 (GRCm39) |
Q1292* |
probably null |
Het |
| Map1a |
C |
T |
2: 121,120,246 (GRCm39) |
A44V |
probably benign |
Het |
| Mbd2 |
T |
A |
18: 70,749,703 (GRCm39) |
M306K |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,253,701 (GRCm39) |
H241Y |
possibly damaging |
Het |
| Mrgprg |
A |
G |
7: 143,318,431 (GRCm39) |
F227S |
possibly damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,382,856 (GRCm39) |
L229H |
probably damaging |
Het |
| Ncf4 |
G |
A |
15: 78,134,637 (GRCm39) |
E30K |
probably damaging |
Het |
| Nlrp4c |
C |
A |
7: 6,069,777 (GRCm39) |
D559E |
probably benign |
Het |
| Nxpe4 |
T |
A |
9: 48,307,855 (GRCm39) |
W320R |
probably damaging |
Het |
| Or10a3n |
T |
A |
7: 108,493,086 (GRCm39) |
H176L |
probably damaging |
Het |
| Or52n4b |
T |
A |
7: 108,144,290 (GRCm39) |
M184K |
possibly damaging |
Het |
| Or6z5 |
T |
C |
7: 6,477,514 (GRCm39) |
L135P |
probably damaging |
Het |
| Pdzrn3 |
A |
G |
6: 101,127,966 (GRCm39) |
V900A |
probably benign |
Het |
| Prcp |
T |
C |
7: 92,567,042 (GRCm39) |
|
probably benign |
Het |
| Prkaa2 |
A |
T |
4: 104,893,526 (GRCm39) |
D474E |
probably damaging |
Het |
| Prl3a1 |
A |
G |
13: 27,443,600 (GRCm39) |
|
probably benign |
Het |
| Ptpra |
T |
A |
2: 130,386,872 (GRCm39) |
Y624N |
probably damaging |
Het |
| Ramp1 |
T |
C |
1: 91,151,022 (GRCm39) |
V129A |
possibly damaging |
Het |
| Reep1 |
G |
T |
6: 71,733,421 (GRCm39) |
|
probably null |
Het |
| Robo3 |
C |
T |
9: 37,335,928 (GRCm39) |
|
probably null |
Het |
| Sapcd2 |
T |
A |
2: 25,266,422 (GRCm39) |
I403N |
probably damaging |
Het |
| Sdk2 |
T |
A |
11: 113,729,435 (GRCm39) |
|
probably benign |
Het |
| Serpinb3a |
T |
C |
1: 106,974,904 (GRCm39) |
M210V |
probably benign |
Het |
| Slc45a3 |
T |
A |
1: 131,909,267 (GRCm39) |
I488N |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,648,867 (GRCm39) |
P1513S |
probably damaging |
Het |
| Trank1 |
T |
A |
9: 111,195,358 (GRCm39) |
H1127Q |
possibly damaging |
Het |
| Trim67 |
T |
C |
8: 125,552,878 (GRCm39) |
V660A |
probably damaging |
Het |
| Ubash3b |
A |
G |
9: 40,942,793 (GRCm39) |
I233T |
probably benign |
Het |
| Unkl |
A |
G |
17: 25,424,707 (GRCm39) |
R245G |
probably null |
Het |
|
| Other mutations in Adam6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Adam6b
|
APN |
12 |
113,455,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTGACTGTGGCTCCCAAAAG -3'
(R):5'- CAGCACAAGCATTGAATGTGAGGC -3'
Sequencing Primer
(F):5'- GGCTCCCAAAAGGCATGTTATTC -3'
(R):5'- CCAAATCGAAACCGTTGTTTGTTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation