Incidental Mutation 'R8806:Adam6b'
| ID |
672088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam6b
|
| Ensembl Gene |
ENSMUSG00000051804 |
| Gene Name |
a disintegrin and metallopeptidase domain 6B |
| Synonyms |
4930523C11Rik |
| MMRRC Submission |
068612-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R8806 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
113453185-113455455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 113455418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 745
(R745H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063317]
|
| AlphaFold |
Q6IMH7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063317
AA Change: R745H
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: R745H
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,084,520 (GRCm39) |
M586V |
probably benign |
Het |
| Afg3l1 |
A |
G |
8: 124,220,657 (GRCm39) |
D462G |
probably damaging |
Het |
| Anapc1 |
T |
A |
2: 128,464,333 (GRCm39) |
Q1721L |
possibly damaging |
Het |
| Arhgap11a |
T |
C |
2: 113,665,107 (GRCm39) |
Y497C |
possibly damaging |
Het |
| Bcl7b |
T |
G |
5: 135,208,824 (GRCm39) |
S96A |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 74,949,311 (GRCm39) |
V3111A |
probably damaging |
Het |
| Cbx1 |
A |
G |
11: 96,692,383 (GRCm39) |
D90G |
possibly damaging |
Het |
| Cdkl3 |
T |
C |
11: 51,923,295 (GRCm39) |
F524S |
possibly damaging |
Het |
| Cops7b |
G |
A |
1: 86,517,031 (GRCm39) |
G44R |
probably damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,083,618 (GRCm39) |
S1028G |
probably benign |
Het |
| Decr1 |
T |
A |
4: 15,945,351 (GRCm39) |
M1L |
probably benign |
Het |
| Dmtn |
T |
C |
14: 70,852,388 (GRCm39) |
I167V |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,750,309 (GRCm39) |
L3932P |
probably damaging |
Het |
| Ece1 |
T |
A |
4: 137,672,452 (GRCm39) |
I365N |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,928,695 (GRCm39) |
M4815K |
probably benign |
Het |
| Exo5 |
T |
C |
4: 120,779,602 (GRCm39) |
T88A |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,390,064 (GRCm39) |
Y1772H |
probably benign |
Het |
| Gm5160 |
A |
G |
18: 14,557,931 (GRCm39) |
N3D |
possibly damaging |
Het |
| Gm7138 |
T |
A |
10: 77,612,717 (GRCm39) |
D21V |
unknown |
Het |
| Gm7298 |
C |
A |
6: 121,761,641 (GRCm39) |
|
silent |
Het |
| Gucy2e |
A |
G |
11: 69,126,942 (GRCm39) |
V177A |
probably benign |
Het |
| Islr |
C |
A |
9: 58,064,256 (GRCm39) |
G417V |
unknown |
Het |
| Kif13a |
A |
T |
13: 46,914,813 (GRCm39) |
M1458K |
possibly damaging |
Het |
| Mcm7 |
T |
C |
5: 138,163,347 (GRCm39) |
D642G |
possibly damaging |
Het |
| Med24 |
A |
T |
11: 98,595,970 (GRCm39) |
I941N |
probably damaging |
Het |
| Mrgprb8 |
C |
T |
7: 48,038,976 (GRCm39) |
P216S |
possibly damaging |
Het |
| Myo5c |
T |
A |
9: 75,150,054 (GRCm39) |
V13D |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,965,551 (GRCm39) |
I1200K |
possibly damaging |
Het |
| Naip6 |
G |
A |
13: 100,437,161 (GRCm39) |
T454M |
possibly damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,295,213 (GRCm39) |
Y877C |
probably damaging |
Het |
| Nolc1 |
C |
A |
19: 46,071,471 (GRCm39) |
S473R |
unknown |
Het |
| Nop16 |
A |
C |
13: 54,737,672 (GRCm39) |
|
probably benign |
Het |
| Nr3c2 |
T |
C |
8: 77,969,092 (GRCm39) |
I959T |
probably damaging |
Het |
| Nup88 |
T |
G |
11: 70,834,941 (GRCm39) |
K692N |
probably benign |
Het |
| Nvl |
C |
A |
1: 180,922,619 (GRCm39) |
G818V |
probably benign |
Het |
| Or1i2 |
G |
T |
10: 78,447,974 (GRCm39) |
T167N |
probably benign |
Het |
| Or4k6 |
T |
A |
14: 50,475,376 (GRCm39) |
E322V |
probably benign |
Het |
| Or4n4 |
A |
G |
14: 50,519,236 (GRCm39) |
I158T |
probably benign |
Het |
| Or4s2b |
T |
C |
2: 88,508,955 (GRCm39) |
V245A |
probably benign |
Het |
| Or8b49 |
A |
T |
9: 38,506,405 (GRCm39) |
D296V |
probably damaging |
Het |
| Or8k1 |
T |
C |
2: 86,047,200 (GRCm39) |
I285V |
probably damaging |
Het |
| Plxnc1 |
G |
A |
10: 94,635,140 (GRCm39) |
S1362L |
probably damaging |
Het |
| Ppfia2 |
C |
T |
10: 106,694,114 (GRCm39) |
A696V |
probably damaging |
Het |
| Prl |
A |
G |
13: 27,243,515 (GRCm39) |
Y62C |
probably damaging |
Het |
| Rnf135 |
A |
G |
11: 80,089,762 (GRCm39) |
D366G |
probably damaging |
Het |
| Rrp8 |
A |
G |
7: 105,384,244 (GRCm39) |
L86P |
probably damaging |
Het |
| Rsph4a |
T |
C |
10: 33,785,445 (GRCm39) |
V452A |
probably damaging |
Het |
| Runx2 |
C |
A |
17: 44,950,570 (GRCm39) |
V410L |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,376,665 (GRCm39) |
T199A |
probably damaging |
Het |
| Sik3 |
T |
C |
9: 46,120,365 (GRCm39) |
S745P |
probably damaging |
Het |
| Slc35e1 |
T |
A |
8: 73,241,973 (GRCm39) |
S250C |
probably damaging |
Het |
| Snx31 |
A |
G |
15: 36,537,698 (GRCm39) |
F160S |
probably damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,261 (GRCm39) |
D198G |
probably benign |
Het |
| Stim2 |
T |
A |
5: 54,156,257 (GRCm39) |
V11E |
probably benign |
Het |
| Tektl1 |
A |
G |
10: 78,588,306 (GRCm39) |
V168A |
probably damaging |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tox4 |
T |
C |
14: 52,524,318 (GRCm39) |
S151P |
probably damaging |
Het |
| Trim34b |
A |
T |
7: 103,985,319 (GRCm39) |
D318V |
probably damaging |
Het |
| Ubtd1 |
T |
C |
19: 42,022,195 (GRCm39) |
S156P |
probably damaging |
Het |
| Usp34 |
C |
A |
11: 23,434,143 (GRCm39) |
L3240M |
|
Het |
| Vmn1r56 |
T |
C |
7: 5,198,805 (GRCm39) |
S271G |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,472,212 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,853,110 (GRCm39) |
F2401S |
probably damaging |
Het |
| Zbtb11 |
G |
A |
16: 55,802,637 (GRCm39) |
V216I |
probably damaging |
Het |
| Zfp931 |
T |
C |
2: 177,709,589 (GRCm39) |
T266A |
possibly damaging |
Het |
| Zfp956 |
A |
G |
6: 47,933,042 (GRCm39) |
M106V |
probably benign |
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 |
|
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 |
|
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'- GAAGCCTCCAGAGTGCAAAG -3'
(R):5'- CAACACGTCTTATGTCCTCATG -3'
Sequencing Primer
(F):5'- CCTCCAGAGTGCAAAGAAGAG -3'
(R):5'- AAGGCCATCCAGAACTGT -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation