Incidental Mutation 'R1591:Adam6b'
ID |
175518 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam6b
|
Ensembl Gene |
ENSMUSG00000051804 |
Gene Name |
a disintegrin and metallopeptidase domain 6B |
Synonyms |
4930523C11Rik |
MMRRC Submission |
039628-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R1591 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
113453185-113455455 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 113453452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 90
(I90F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065529
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063317]
|
AlphaFold |
Q6IMH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063317
AA Change: I90F
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000065529 Gene: ENSMUSG00000051804 AA Change: I90F
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
Validation Efficiency |
100% (80/80) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abraxas1 |
G |
T |
5: 100,957,505 (GRCm39) |
Q201K |
probably benign |
Het |
Acacb |
A |
T |
5: 114,341,484 (GRCm39) |
I829F |
possibly damaging |
Het |
Acvr1b |
G |
T |
15: 101,091,905 (GRCm39) |
V62L |
probably benign |
Het |
Adgrf1 |
T |
C |
17: 43,621,872 (GRCm39) |
L703P |
probably damaging |
Het |
Arf3 |
T |
C |
15: 98,640,669 (GRCm39) |
|
probably benign |
Het |
Asns |
T |
C |
6: 7,678,007 (GRCm39) |
D357G |
probably damaging |
Het |
Atr |
T |
C |
9: 95,827,438 (GRCm39) |
M2461T |
probably damaging |
Het |
B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
Bod1l |
T |
C |
5: 41,976,563 (GRCm39) |
I1584V |
probably benign |
Het |
Bub3 |
T |
C |
7: 131,163,337 (GRCm39) |
|
probably null |
Het |
Camkk2 |
A |
G |
5: 122,895,621 (GRCm39) |
|
probably null |
Het |
Cand1 |
G |
T |
10: 119,047,774 (GRCm39) |
T572K |
possibly damaging |
Het |
Caprin2 |
A |
T |
6: 148,774,606 (GRCm39) |
S235R |
possibly damaging |
Het |
Cdh24 |
T |
C |
14: 54,873,799 (GRCm39) |
T452A |
probably benign |
Het |
Cdh4 |
T |
C |
2: 179,528,657 (GRCm39) |
|
probably null |
Het |
Cfap61 |
A |
G |
2: 145,987,378 (GRCm39) |
R1060G |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,710,166 (GRCm39) |
D314G |
probably damaging |
Het |
Cplx3 |
C |
T |
9: 57,523,085 (GRCm39) |
V125I |
probably benign |
Het |
Csmd1 |
T |
A |
8: 15,950,710 (GRCm39) |
I3500F |
probably damaging |
Het |
Dnah1 |
G |
T |
14: 30,994,289 (GRCm39) |
Q2858K |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,053,583 (GRCm39) |
E2884K |
probably benign |
Het |
Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
Exosc10 |
T |
A |
4: 148,652,840 (GRCm39) |
I485N |
probably benign |
Het |
Fap |
T |
C |
2: 62,384,201 (GRCm39) |
K2E |
probably damaging |
Het |
Fgfr1 |
G |
A |
8: 26,062,736 (GRCm39) |
G671D |
probably damaging |
Het |
Fzr1 |
C |
T |
10: 81,206,201 (GRCm39) |
R162Q |
possibly damaging |
Het |
Grap2 |
A |
T |
15: 80,532,649 (GRCm39) |
Y272F |
probably damaging |
Het |
Il11ra1 |
T |
A |
4: 41,766,200 (GRCm39) |
W246R |
probably damaging |
Het |
Kcna3 |
A |
T |
3: 106,944,345 (GRCm39) |
I203F |
probably damaging |
Het |
Kcng1 |
T |
C |
2: 168,110,630 (GRCm39) |
E178G |
possibly damaging |
Het |
Kif19a |
A |
C |
11: 114,680,057 (GRCm39) |
H798P |
probably benign |
Het |
Kif21b |
T |
C |
1: 136,077,055 (GRCm39) |
L359P |
probably damaging |
Het |
Krt6a |
A |
T |
15: 101,600,792 (GRCm39) |
|
probably null |
Het |
Lrp1 |
C |
T |
10: 127,441,475 (GRCm39) |
S216N |
probably benign |
Het |
Lrp3 |
A |
G |
7: 34,901,790 (GRCm39) |
V676A |
probably benign |
Het |
Lrrc63 |
T |
A |
14: 75,363,332 (GRCm39) |
K266N |
possibly damaging |
Het |
Mccc1 |
C |
T |
3: 36,044,006 (GRCm39) |
V246M |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,700,092 (GRCm39) |
V1395A |
possibly damaging |
Het |
Mmrn1 |
A |
T |
6: 60,921,755 (GRCm39) |
R71* |
probably null |
Het |
Mrps2 |
C |
T |
2: 28,359,500 (GRCm39) |
A119V |
probably benign |
Het |
Ogdh |
T |
C |
11: 6,299,384 (GRCm39) |
F750S |
probably damaging |
Het |
Or1ak2 |
C |
A |
2: 36,827,990 (GRCm39) |
N286K |
probably damaging |
Het |
Or51aa2 |
T |
G |
7: 103,188,274 (GRCm39) |
T56P |
probably benign |
Het |
Or5p60 |
T |
A |
7: 107,723,571 (GRCm39) |
I300F |
possibly damaging |
Het |
Or8b3 |
A |
G |
9: 38,314,232 (GRCm39) |
T18A |
probably damaging |
Het |
Or8b42 |
A |
T |
9: 38,341,707 (GRCm39) |
N43I |
probably damaging |
Het |
Osbpl11 |
A |
C |
16: 33,030,353 (GRCm39) |
I194L |
probably benign |
Het |
Pacsin2 |
T |
C |
15: 83,269,252 (GRCm39) |
E14G |
probably damaging |
Het |
Pate7 |
T |
C |
9: 35,687,952 (GRCm39) |
D96G |
probably damaging |
Het |
Pcdh7 |
A |
G |
5: 57,877,764 (GRCm39) |
T440A |
probably damaging |
Het |
Pcdhb17 |
T |
C |
18: 37,618,878 (GRCm39) |
S223P |
probably damaging |
Het |
Pik3c2g |
G |
A |
6: 139,693,904 (GRCm39) |
R109K |
probably benign |
Het |
Ppp2ca |
T |
C |
11: 51,989,916 (GRCm39) |
I14T |
possibly damaging |
Het |
Rdh12 |
A |
T |
12: 79,258,278 (GRCm39) |
T102S |
probably damaging |
Het |
Rsf1 |
T |
A |
7: 97,288,520 (GRCm39) |
C132* |
probably null |
Het |
Rufy1 |
G |
A |
11: 50,285,755 (GRCm39) |
L621F |
probably damaging |
Het |
Ruvbl2 |
C |
T |
7: 45,074,135 (GRCm39) |
R253H |
possibly damaging |
Het |
Sdf2 |
A |
G |
11: 78,145,819 (GRCm39) |
E172G |
probably damaging |
Het |
Skint5 |
C |
T |
4: 113,856,651 (GRCm39) |
|
probably null |
Het |
Slc25a27 |
A |
G |
17: 43,964,315 (GRCm39) |
I185T |
probably benign |
Het |
Slc41a3 |
A |
C |
6: 90,610,677 (GRCm39) |
K180Q |
probably benign |
Het |
Slc7a14 |
A |
C |
3: 31,291,598 (GRCm39) |
F227V |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,756,142 (GRCm39) |
|
probably benign |
Het |
St6galnac1 |
A |
T |
11: 116,656,689 (GRCm39) |
D483E |
probably damaging |
Het |
Tes |
A |
G |
6: 17,097,441 (GRCm39) |
K183R |
probably damaging |
Het |
Tgfbr1 |
G |
T |
4: 47,403,471 (GRCm39) |
D290Y |
probably damaging |
Het |
Tifab |
T |
A |
13: 56,324,164 (GRCm39) |
Y93F |
probably benign |
Het |
Tmem131l |
A |
G |
3: 83,848,196 (GRCm39) |
|
probably null |
Het |
Tnfrsf21 |
T |
A |
17: 43,396,265 (GRCm39) |
S516R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,606,389 (GRCm39) |
Y18140C |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,244,747 (GRCm39) |
S3692T |
probably damaging |
Het |
Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
Zfp113 |
T |
C |
5: 138,149,459 (GRCm39) |
|
probably benign |
Het |
Zfp26 |
T |
C |
9: 20,348,921 (GRCm39) |
T548A |
probably benign |
Het |
Zfp870 |
C |
T |
17: 33,102,990 (GRCm39) |
G114D |
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 |
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 |
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'- GGCCATCCTACTTGGCGTTACATC -3'
(R):5'- TGCATTCATAGGCCCTGTGTCATC -3'
Sequencing Primer
(F):5'- GGCGTTACATCTCATCGGAG -3'
(R):5'- ACAAGGTGTTCAAAGCTCTGTG -3'
|
Posted On |
2014-04-24 |