Incidental Mutation 'R8792:Adam6b'
| ID |
671012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam6b
|
| Ensembl Gene |
ENSMUSG00000051804 |
| Gene Name |
a disintegrin and metallopeptidase domain 6B |
| Synonyms |
4930523C11Rik |
| MMRRC Submission |
068635-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R8792 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
113453185-113455455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113455310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 709
(I709T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063317]
|
| AlphaFold |
Q6IMH7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063317
AA Change: I709T
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: I709T
| 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 |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
T |
C |
15: 81,793,697 (GRCm39) |
I382T |
probably damaging |
Het |
| Adam39 |
G |
T |
8: 41,279,613 (GRCm39) |
R668L |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,836,522 (GRCm39) |
E692G |
probably damaging |
Het |
| Asxl2 |
T |
C |
12: 3,546,536 (GRCm39) |
L440P |
probably benign |
Het |
| Atosb |
G |
A |
4: 43,033,546 (GRCm39) |
P536S |
probably damaging |
Het |
| Bmf |
A |
G |
2: 118,377,386 (GRCm39) |
F121L |
probably damaging |
Het |
| Cblif |
C |
A |
19: 11,727,599 (GRCm39) |
A141E |
probably damaging |
Het |
| Cdk9 |
A |
T |
2: 32,598,269 (GRCm39) |
F262L |
probably benign |
Het |
| Clock |
T |
A |
5: 76,410,574 (GRCm39) |
D99V |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,642,189 (GRCm39) |
T102S |
|
Het |
| Eps15 |
T |
C |
4: 109,162,908 (GRCm39) |
V67A |
probably benign |
Het |
| Fam171b |
T |
A |
2: 83,643,103 (GRCm39) |
L4H |
probably damaging |
Het |
| Fcho2 |
T |
A |
13: 98,951,769 (GRCm39) |
|
probably benign |
Het |
| Gal3st4 |
C |
T |
5: 138,269,251 (GRCm39) |
V70M |
probably damaging |
Het |
| Garin2 |
C |
T |
12: 78,761,924 (GRCm39) |
T196M |
probably damaging |
Het |
| Got1l1 |
C |
A |
8: 27,690,749 (GRCm39) |
|
probably null |
Het |
| Gpr146 |
A |
G |
5: 139,378,549 (GRCm39) |
Y117C |
probably damaging |
Het |
| Gpr158 |
G |
A |
2: 21,558,137 (GRCm39) |
V346M |
probably damaging |
Het |
| Herc1 |
C |
A |
9: 66,372,768 (GRCm39) |
P3108Q |
probably damaging |
Het |
| Hoxc9 |
A |
G |
15: 102,890,226 (GRCm39) |
S48G |
probably benign |
Het |
| I830077J02Rik |
T |
C |
3: 105,835,104 (GRCm39) |
|
probably benign |
Het |
| Ift70a1 |
C |
A |
2: 75,811,898 (GRCm39) |
E62* |
probably null |
Het |
| Lama4 |
T |
G |
10: 38,924,048 (GRCm39) |
I485M |
probably benign |
Het |
| Lrp4 |
C |
T |
2: 91,325,300 (GRCm39) |
T1375I |
possibly damaging |
Het |
| Lrp6 |
T |
C |
6: 134,463,549 (GRCm39) |
Y544C |
probably damaging |
Het |
| Man2b1 |
C |
T |
8: 85,821,773 (GRCm39) |
Q692* |
probably null |
Het |
| Mark2 |
G |
T |
19: 7,258,580 (GRCm39) |
H570N |
probably benign |
Het |
| Mlph |
T |
C |
1: 90,870,682 (GRCm39) |
|
probably benign |
Het |
| Mnx1 |
G |
A |
5: 29,683,372 (GRCm39) |
|
probably benign |
Het |
| Nkx2-2 |
A |
T |
2: 147,019,813 (GRCm39) |
V208E |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,050,919 (GRCm39) |
I1058V |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,963,047 (GRCm39) |
I877T |
probably damaging |
Het |
| Olfml2b |
A |
T |
1: 170,508,669 (GRCm39) |
N509I |
possibly damaging |
Het |
| Or1e27-ps1 |
T |
C |
11: 73,555,471 (GRCm39) |
L12P |
probably damaging |
Het |
| Or4c121 |
T |
C |
2: 89,024,231 (GRCm39) |
Y49C |
probably benign |
Het |
| Or4f14b |
G |
C |
2: 111,775,073 (GRCm39) |
H243D |
probably damaging |
Het |
| Pabpc6 |
T |
C |
17: 9,888,332 (GRCm39) |
N73S |
probably damaging |
Het |
| Parp12 |
A |
G |
6: 39,065,984 (GRCm39) |
F580L |
probably benign |
Het |
| Parvg |
C |
A |
15: 84,213,160 (GRCm39) |
H80Q |
probably damaging |
Het |
| Pcdhb14 |
T |
C |
18: 37,582,541 (GRCm39) |
V549A |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,179,534 (GRCm39) |
H374L |
probably benign |
Het |
| Pgap4 |
T |
C |
4: 49,587,067 (GRCm39) |
T34A |
possibly damaging |
Het |
| Phf2 |
C |
T |
13: 48,970,981 (GRCm39) |
|
probably benign |
Het |
| Pld4 |
T |
C |
12: 112,729,924 (GRCm39) |
F69L |
probably benign |
Het |
| Qrich2 |
T |
C |
11: 116,347,456 (GRCm39) |
I1123V |
unknown |
Het |
| Rida |
C |
T |
15: 34,495,242 (GRCm39) |
V8M |
possibly damaging |
Het |
| Rnf19b |
T |
A |
4: 128,952,478 (GRCm39) |
C139S |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,095,091 (GRCm39) |
I1254M |
unknown |
Het |
| Rpl3l |
A |
G |
17: 24,947,447 (GRCm39) |
T2A |
possibly damaging |
Het |
| Serpinb6e |
A |
T |
13: 34,022,942 (GRCm39) |
I147N |
possibly damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,673,390 (GRCm39) |
T727I |
probably damaging |
Het |
| Slc25a16 |
C |
T |
10: 62,764,119 (GRCm39) |
R59* |
probably null |
Het |
| Strc |
T |
A |
2: 121,208,286 (GRCm39) |
I362F |
probably damaging |
Het |
| Tbc1d5 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
17: 51,106,962 (GRCm39) |
|
probably benign |
Het |
| Tll1 |
T |
A |
8: 64,538,499 (GRCm39) |
T382S |
probably damaging |
Het |
| Tmprss6 |
T |
A |
15: 78,328,328 (GRCm39) |
D556V |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,401,099 (GRCm39) |
|
probably null |
Het |
| Usp43 |
T |
A |
11: 67,767,244 (GRCm39) |
K709* |
probably null |
Het |
| Vcan |
A |
T |
13: 89,840,230 (GRCm39) |
N1771K |
possibly damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,659,669 (GRCm39) |
I81V |
probably benign |
Het |
| Zxdc |
A |
G |
6: 90,346,986 (GRCm39) |
T116A |
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 |
|
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'- GTGATCAAGGAGCTTGCAGTG -3'
(R):5'- TTTATCTTACAGGAGACAGGAGGG -3'
Sequencing Primer
(F):5'- ATTTGGGTTATGACTGCACCC -3'
(R):5'- AGGGGAGGGCTAACTCATTTTAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation