Incidental Mutation 'R7857:Adam6b'
| ID |
607297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam6b
|
| Ensembl Gene |
ENSMUSG00000051804 |
| Gene Name |
a disintegrin and metallopeptidase domain 6B |
| Synonyms |
4930523C11Rik |
| MMRRC Submission |
045910-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R7857 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
113453185-113455455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 113454104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 307
(N307I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063317]
|
| AlphaFold |
Q6IMH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063317
AA Change: N307I
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: N307I
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
G |
A |
19: 8,984,832 (GRCm39) |
V2039M |
probably damaging |
Het |
| Arhgef40 |
T |
A |
14: 52,226,212 (GRCm39) |
H85Q |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,891,616 (GRCm39) |
L1165* |
probably null |
Het |
| Cck |
A |
G |
9: 121,322,514 (GRCm39) |
W100R |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,367,908 (GRCm39) |
R268G |
possibly damaging |
Het |
| Cldn12 |
T |
C |
5: 5,558,209 (GRCm39) |
T73A |
probably benign |
Het |
| Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
| Ctnnd2 |
A |
T |
15: 30,620,076 (GRCm39) |
T143S |
probably benign |
Het |
| Cyp2b13 |
T |
A |
7: 25,788,153 (GRCm39) |
L427Q |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,550,927 (GRCm39) |
Y152N |
probably damaging |
Het |
| Dsg1b |
A |
T |
18: 20,529,520 (GRCm39) |
M322L |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,045,226 (GRCm39) |
M414T |
probably benign |
Het |
| Elp3 |
G |
A |
14: 65,800,759 (GRCm39) |
T302M |
probably benign |
Het |
| Entpd6 |
T |
C |
2: 150,607,473 (GRCm39) |
|
probably null |
Het |
| Epb41l4a |
G |
T |
18: 34,139,098 (GRCm39) |
C13* |
probably null |
Het |
| Ephb6 |
T |
C |
6: 41,590,331 (GRCm39) |
S28P |
probably benign |
Het |
| Fbxo21 |
T |
C |
5: 118,126,878 (GRCm39) |
S210P |
probably benign |
Het |
| Gapvd1 |
T |
A |
2: 34,619,079 (GRCm39) |
E98V |
probably benign |
Het |
| Gcdh |
A |
G |
8: 85,619,093 (GRCm39) |
V157A |
probably damaging |
Het |
| Gm10638 |
G |
T |
8: 87,472,891 (GRCm39) |
R188L |
unknown |
Het |
| Grk3 |
T |
C |
5: 113,109,427 (GRCm39) |
T177A |
unknown |
Het |
| Gsc |
T |
G |
12: 104,438,424 (GRCm39) |
E148A |
probably damaging |
Het |
| Hacd4 |
C |
T |
4: 88,355,702 (GRCm39) |
G61E |
probably damaging |
Het |
| Herc3 |
G |
A |
6: 58,820,637 (GRCm39) |
W7* |
probably null |
Het |
| Il1rl2 |
T |
C |
1: 40,366,642 (GRCm39) |
Y59H |
probably benign |
Het |
| Irag1 |
T |
A |
7: 110,522,742 (GRCm39) |
K234* |
probably null |
Het |
| Kif1c |
A |
G |
11: 70,619,103 (GRCm39) |
T913A |
probably benign |
Het |
| Lipg |
C |
T |
18: 75,078,891 (GRCm39) |
G454R |
probably damaging |
Het |
| Lrrc74a |
A |
G |
12: 86,788,485 (GRCm39) |
D155G |
probably benign |
Het |
| Ltf |
A |
T |
9: 110,851,444 (GRCm39) |
I137F |
probably benign |
Het |
| Med19 |
T |
A |
2: 84,515,969 (GRCm39) |
M166K |
probably damaging |
Het |
| Mei1 |
A |
T |
15: 81,976,918 (GRCm39) |
Y167F |
not run |
Het |
| Ncaph |
A |
C |
2: 126,946,165 (GRCm39) |
D724E |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,112,996 (GRCm39) |
D4266V |
probably damaging |
Het |
| Npffr1 |
G |
T |
10: 61,449,765 (GRCm39) |
W13L |
probably benign |
Het |
| Or51b6 |
A |
T |
7: 103,555,817 (GRCm39) |
H54L |
|
Het |
| Pcdha12 |
A |
T |
18: 37,155,468 (GRCm39) |
D729V |
probably benign |
Het |
| Pcdha7 |
A |
T |
18: 37,108,892 (GRCm39) |
E639V |
probably damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,624,364 (GRCm39) |
M565L |
probably benign |
Het |
| Plcd3 |
A |
T |
11: 102,968,760 (GRCm39) |
D310E |
probably benign |
Het |
| Pmm2 |
C |
G |
16: 8,460,632 (GRCm39) |
Q29E |
probably benign |
Het |
| Poli |
T |
G |
18: 70,642,225 (GRCm39) |
E658D |
probably benign |
Het |
| Prss22 |
G |
A |
17: 24,212,853 (GRCm39) |
R295C |
probably damaging |
Het |
| Psg26 |
A |
G |
7: 18,212,215 (GRCm39) |
I380T |
possibly damaging |
Het |
| Reep5 |
A |
T |
18: 34,505,521 (GRCm39) |
V50E |
possibly damaging |
Het |
| Rfx7 |
A |
G |
9: 72,500,605 (GRCm39) |
T122A |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,767,099 (GRCm39) |
N424D |
probably damaging |
Het |
| Slc4a7 |
T |
C |
14: 14,772,624 (GRCm38) |
V711A |
probably benign |
Het |
| Smc4 |
T |
C |
3: 68,940,552 (GRCm39) |
V1162A |
possibly damaging |
Het |
| Snta1 |
A |
T |
2: 154,225,817 (GRCm39) |
L189H |
probably benign |
Het |
| Tmem121 |
C |
T |
12: 113,152,696 (GRCm39) |
R305C |
possibly damaging |
Het |
| Tmem68 |
A |
G |
4: 3,551,825 (GRCm39) |
V271A |
probably damaging |
Het |
| Tmx4 |
T |
G |
2: 134,481,582 (GRCm39) |
M114L |
probably benign |
Het |
| Trps1 |
T |
A |
15: 50,524,401 (GRCm39) |
R1176S |
probably damaging |
Het |
| Usp21 |
A |
G |
1: 171,114,335 (GRCm39) |
L63P |
probably benign |
Het |
| Vmn2r84 |
T |
A |
10: 130,226,738 (GRCm39) |
M367L |
probably benign |
Het |
| Wbp2nl |
A |
G |
15: 82,190,273 (GRCm39) |
N67S |
probably benign |
Het |
| Wdr35 |
T |
C |
12: 9,058,113 (GRCm39) |
|
probably null |
Het |
| Zfp236 |
G |
A |
18: 82,686,726 (GRCm39) |
Q271* |
probably null |
Het |
| Zfp831 |
T |
C |
2: 174,547,035 (GRCm39) |
V1406A |
probably benign |
Het |
| Zfp934 |
G |
A |
13: 62,665,361 (GRCm39) |
H459Y |
|
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 |
|
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'- GCAGGTGACAAACTTTCATCTAC -3'
(R):5'- TTCTCTGGCAGACACAGTACC -3'
Sequencing Primer
(F):5'- GTGACAAACTTTCATCTACTGTTGGG -3'
(R):5'- ACAGTACCCCTCATCATATTTTAAGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation