Incidental Mutation 'R1675:Adam6b'
ID |
188017 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam6b
|
Ensembl Gene |
ENSMUSG00000051804 |
Gene Name |
a disintegrin and metallopeptidase domain 6B |
Synonyms |
4930523C11Rik |
MMRRC Submission |
039711-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R1675 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
113453185-113455455 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 113454664 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 494
(Y494H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065529
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063317]
|
AlphaFold |
Q6IMH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063317
AA Change: Y494H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000065529 Gene: ENSMUSG00000051804 AA Change: Y494H
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 93.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
C |
T |
1: 71,302,570 (GRCm39) |
|
probably null |
Het |
Adamtsl2 |
GC |
G |
2: 26,972,497 (GRCm39) |
|
probably null |
Het |
Anapc2 |
G |
A |
2: 25,162,651 (GRCm39) |
V42M |
possibly damaging |
Het |
Aph1a |
T |
A |
3: 95,802,211 (GRCm39) |
D64E |
possibly damaging |
Het |
Arhgef11 |
C |
T |
3: 87,638,518 (GRCm39) |
A1111V |
possibly damaging |
Het |
Atoh1 |
T |
C |
6: 64,707,141 (GRCm39) |
S279P |
probably benign |
Het |
Atp10b |
A |
G |
11: 43,116,475 (GRCm39) |
T941A |
probably damaging |
Het |
Barhl1 |
C |
T |
2: 28,805,423 (GRCm39) |
R90Q |
possibly damaging |
Het |
Calr3 |
T |
C |
8: 73,185,302 (GRCm39) |
D91G |
probably damaging |
Het |
Ccdc148 |
T |
C |
2: 58,870,566 (GRCm39) |
D317G |
probably damaging |
Het |
Cnn3 |
C |
T |
3: 121,250,818 (GRCm39) |
Q19* |
probably null |
Het |
Cul5 |
T |
C |
9: 53,557,983 (GRCm39) |
D207G |
probably benign |
Het |
Cyp4x1 |
T |
C |
4: 114,984,757 (GRCm39) |
E41G |
possibly damaging |
Het |
Dagla |
T |
A |
19: 10,246,687 (GRCm39) |
M138L |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,106,523 (GRCm39) |
M1738K |
probably damaging |
Het |
Eif4enif1 |
T |
A |
11: 3,165,686 (GRCm39) |
S88T |
probably benign |
Het |
Eno3 |
T |
C |
11: 70,549,492 (GRCm39) |
|
probably null |
Het |
Erbb3 |
C |
A |
10: 128,407,073 (GRCm39) |
S1029I |
probably damaging |
Het |
Erbin |
C |
A |
13: 103,977,686 (GRCm39) |
V624L |
probably damaging |
Het |
Fam170b |
C |
T |
14: 32,557,359 (GRCm39) |
Q65* |
probably null |
Het |
Gin1 |
T |
A |
1: 97,713,780 (GRCm39) |
L360* |
probably null |
Het |
Gldc |
A |
T |
19: 30,120,853 (GRCm39) |
D359E |
probably damaging |
Het |
Gpr107 |
A |
T |
2: 31,057,063 (GRCm39) |
T52S |
possibly damaging |
Het |
Hip1r |
A |
G |
5: 124,132,883 (GRCm39) |
Y227C |
probably damaging |
Het |
Hmgxb3 |
A |
G |
18: 61,268,631 (GRCm39) |
L1004P |
probably damaging |
Het |
Hspa1l |
A |
G |
17: 35,196,419 (GRCm39) |
N153D |
probably damaging |
Het |
Itga8 |
C |
A |
2: 12,204,974 (GRCm39) |
V488L |
probably damaging |
Het |
Kcnk10 |
G |
A |
12: 98,462,547 (GRCm39) |
A134V |
probably benign |
Het |
Kif18a |
T |
A |
2: 109,128,748 (GRCm39) |
C406S |
probably benign |
Het |
Klhl28 |
A |
T |
12: 64,998,593 (GRCm39) |
S300R |
probably damaging |
Het |
Kmt2e |
C |
T |
5: 23,687,451 (GRCm39) |
Q434* |
probably null |
Het |
Lilrb4a |
A |
G |
10: 51,372,281 (GRCm39) |
T222A |
probably benign |
Het |
Lipn |
G |
A |
19: 34,058,110 (GRCm39) |
R277Q |
probably damaging |
Het |
Lrrc61 |
G |
A |
6: 48,545,708 (GRCm39) |
R177Q |
possibly damaging |
Het |
Lrrc74a |
G |
A |
12: 86,787,800 (GRCm39) |
E144K |
probably damaging |
Het |
Mal |
T |
C |
2: 127,476,964 (GRCm39) |
Y77C |
probably benign |
Het |
Map1a |
T |
A |
2: 121,133,136 (GRCm39) |
C1079* |
probably null |
Het |
Mbd5 |
T |
A |
2: 49,146,230 (GRCm39) |
S147T |
possibly damaging |
Het |
Nsd2 |
T |
A |
5: 34,018,493 (GRCm39) |
M509K |
probably benign |
Het |
Or13p4 |
C |
T |
4: 118,547,145 (GRCm39) |
R168H |
probably benign |
Het |
Or1ad8 |
T |
C |
11: 50,898,464 (GRCm39) |
F222L |
probably benign |
Het |
Or5an1c |
C |
T |
19: 12,218,195 (GRCm39) |
V277I |
probably benign |
Het |
Or6p1 |
T |
C |
1: 174,258,663 (GRCm39) |
V223A |
probably benign |
Het |
Rcor2 |
C |
T |
19: 7,247,546 (GRCm39) |
L45F |
probably damaging |
Het |
Rpl12 |
T |
A |
2: 32,853,537 (GRCm39) |
D107E |
probably benign |
Het |
Rpl7l1 |
A |
T |
17: 47,089,117 (GRCm39) |
F205I |
probably damaging |
Het |
Samd4b |
C |
T |
7: 28,113,435 (GRCm39) |
G177R |
probably damaging |
Het |
Sema4a |
A |
T |
3: 88,362,073 (GRCm39) |
F18I |
possibly damaging |
Het |
Slc37a1 |
A |
T |
17: 31,557,048 (GRCm39) |
T405S |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Syt14 |
T |
C |
1: 192,579,790 (GRCm39) |
D781G |
probably damaging |
Het |
Tasor2 |
T |
C |
13: 3,619,507 (GRCm39) |
I2241M |
possibly damaging |
Het |
Tprn |
T |
G |
2: 25,154,421 (GRCm39) |
D574E |
probably benign |
Het |
Trim75 |
T |
A |
8: 65,435,163 (GRCm39) |
E429V |
probably damaging |
Het |
Trit1 |
C |
T |
4: 122,948,029 (GRCm39) |
R450C |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Unc13c |
A |
G |
9: 73,546,332 (GRCm39) |
|
probably null |
Het |
Usp49 |
C |
A |
17: 47,984,335 (GRCm39) |
L447I |
probably damaging |
Het |
Vmn1r20 |
T |
C |
6: 57,408,937 (GRCm39) |
C88R |
probably benign |
Het |
Zfp94 |
T |
A |
7: 24,002,259 (GRCm39) |
K394N |
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 |
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'- AGATCCCTGCTGTGGAAATGATTGC -3'
(R):5'- TGTCCCACGATGTTCATCAAGCC -3'
Sequencing Primer
(F):5'- TGCAGGTTAACACCTGGTAGC -3'
(R):5'- GTGACATTGGTACACTGCAAC -3'
|
Posted On |
2014-05-09 |