Incidental Mutation 'R5034:Adam6b'
| ID |
389460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam6b
|
| Ensembl Gene |
ENSMUSG00000051804 |
| Gene Name |
a disintegrin and metallopeptidase domain 6B |
| Synonyms |
4930523C11Rik |
| MMRRC Submission |
042625-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5034 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
113453185-113455455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 113454547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 455
(G455C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063317]
|
| AlphaFold |
Q6IMH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063317
AA Change: G455C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: G455C
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
97% (67/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,136,090 (GRCm39) |
S482T |
probably benign |
Het |
| Ahsg |
C |
A |
16: 22,717,650 (GRCm39) |
P237Q |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,552,193 (GRCm39) |
S1312G |
probably damaging |
Het |
| Brinp3 |
C |
T |
1: 146,603,458 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,564,649 (GRCm39) |
H1677R |
probably damaging |
Het |
| Cops7a |
A |
G |
6: 124,939,583 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
G |
A |
4: 127,952,901 (GRCm39) |
A117T |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,492,683 (GRCm39) |
R3153G |
possibly damaging |
Het |
| Dctn4 |
A |
G |
18: 60,685,956 (GRCm39) |
N342D |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,499,004 (GRCm39) |
I953N |
probably damaging |
Het |
| Dmwd |
T |
C |
7: 18,814,219 (GRCm39) |
S290P |
probably damaging |
Het |
| Dsc1 |
T |
A |
18: 20,228,084 (GRCm39) |
Y424F |
possibly damaging |
Het |
| Far2 |
C |
A |
6: 148,074,939 (GRCm39) |
L391M |
probably benign |
Het |
| Foxd3 |
G |
A |
4: 99,545,327 (GRCm39) |
G156S |
probably damaging |
Het |
| Galk2 |
A |
T |
2: 125,771,495 (GRCm39) |
E173D |
probably benign |
Het |
| Hcar1 |
T |
C |
5: 124,017,732 (GRCm39) |
|
probably benign |
Het |
| Hsd17b11 |
C |
T |
5: 104,166,087 (GRCm39) |
V91M |
possibly damaging |
Het |
| Ighv1-77 |
C |
T |
12: 115,825,494 (GRCm39) |
C115Y |
probably damaging |
Het |
| Ighv9-2 |
A |
G |
12: 114,073,025 (GRCm39) |
F9S |
probably damaging |
Het |
| Kdm6b |
A |
G |
11: 69,292,736 (GRCm39) |
|
probably benign |
Het |
| Kif21a |
T |
A |
15: 90,852,561 (GRCm39) |
R890W |
probably null |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Magel2 |
A |
T |
7: 62,029,616 (GRCm39) |
H840L |
unknown |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,317 (GRCm39) |
F95L |
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,104,440 (GRCm39) |
L1436P |
probably damaging |
Het |
| Nf1 |
C |
T |
11: 79,334,976 (GRCm39) |
P943S |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,952,502 (GRCm39) |
R4153* |
probably null |
Het |
| Oosp2 |
T |
C |
19: 11,628,899 (GRCm39) |
I67M |
probably damaging |
Het |
| Or5m13b |
C |
A |
2: 85,753,891 (GRCm39) |
S93Y |
probably damaging |
Het |
| Pcdh9 |
T |
A |
14: 93,564,285 (GRCm39) |
D1023V |
probably benign |
Het |
| Pcdhb14 |
T |
C |
18: 37,581,859 (GRCm39) |
S322P |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,151,231 (GRCm39) |
D285G |
probably benign |
Het |
| Pde5a |
G |
C |
3: 122,646,235 (GRCm39) |
G809R |
probably damaging |
Het |
| Pde5a |
G |
T |
3: 122,646,236 (GRCm39) |
G809V |
probably damaging |
Het |
| Pphln1 |
T |
C |
15: 93,350,010 (GRCm39) |
V120A |
probably benign |
Het |
| Rictor |
T |
C |
15: 6,797,576 (GRCm39) |
S311P |
probably damaging |
Het |
| Rilpl1 |
T |
C |
5: 124,631,887 (GRCm39) |
D153G |
probably damaging |
Het |
| Rmdn3 |
G |
T |
2: 118,978,058 (GRCm39) |
A181E |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,301,633 (GRCm39) |
V369M |
probably damaging |
Het |
| Scyl1 |
T |
A |
19: 5,810,022 (GRCm39) |
R601S |
probably benign |
Het |
| Sdcbp |
G |
A |
4: 6,393,118 (GRCm39) |
|
probably null |
Het |
| Septin8 |
A |
G |
11: 53,425,265 (GRCm39) |
T53A |
probably damaging |
Het |
| Sfpq |
A |
G |
4: 126,917,462 (GRCm39) |
|
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 39,127,134 (GRCm39) |
Y163H |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,812,048 (GRCm39) |
|
probably null |
Het |
| Sspo |
A |
T |
6: 48,457,757 (GRCm39) |
N3231Y |
possibly damaging |
Het |
| Tcf3 |
A |
G |
10: 80,253,377 (GRCm39) |
V218A |
possibly damaging |
Het |
| Tgm3 |
T |
C |
2: 129,879,404 (GRCm39) |
V332A |
possibly damaging |
Het |
| Tmprss11f |
C |
T |
5: 86,739,243 (GRCm39) |
|
probably benign |
Het |
| Trbv4 |
A |
G |
6: 41,036,624 (GRCm39) |
T50A |
probably benign |
Het |
| Trdv2-2 |
C |
A |
14: 54,198,882 (GRCm39) |
Y57* |
probably null |
Het |
| Trim50 |
T |
C |
5: 135,396,147 (GRCm39) |
V365A |
possibly damaging |
Het |
| Ubash3b |
T |
C |
9: 40,941,036 (GRCm39) |
Q245R |
probably benign |
Het |
| Ulk3 |
T |
A |
9: 57,501,047 (GRCm39) |
V338E |
possibly damaging |
Het |
| Usf3 |
A |
C |
16: 44,036,762 (GRCm39) |
K414T |
probably damaging |
Het |
| Usp48 |
C |
T |
4: 137,334,068 (GRCm39) |
R161* |
probably null |
Het |
| Vps18 |
A |
T |
2: 119,123,787 (GRCm39) |
D238V |
probably benign |
Het |
| Vps35l |
T |
C |
7: 118,390,611 (GRCm39) |
V368A |
probably damaging |
Het |
| Zfp354c |
T |
C |
11: 50,705,866 (GRCm39) |
E403G |
probably benign |
Het |
| Zscan18 |
A |
G |
7: 12,508,072 (GRCm39) |
V476A |
probably damaging |
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 |
|
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 |
|
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'- TCCTGGTCTGATGCCATGTC -3'
(R):5'- GCACTTACACCAAAGATTTCCATG -3'
Sequencing Primer
(F):5'- GATGCCATGTCTTTTCTATGACCG -3'
(R):5'- TGCGATCAGTGCAGTTACC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation