Incidental Mutation 'R0420:Adam6b'
ID |
37011 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam6b
|
Ensembl Gene |
ENSMUSG00000051804 |
Gene Name |
a disintegrin and metallopeptidase domain 6B |
Synonyms |
4930523C11Rik |
MMRRC Submission |
038622-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R0420 (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 113453614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 144
(M144L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065529
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063317]
|
AlphaFold |
Q6IMH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063317
AA Change: M144L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000065529 Gene: ENSMUSG00000051804 AA Change: M144L
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: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.2%
|
Validation Efficiency |
100% (76/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
C |
5: 8,991,050 (GRCm39) |
V870A |
probably benign |
Het |
Adrb2 |
T |
A |
18: 62,312,610 (GRCm39) |
I72L |
possibly damaging |
Het |
Ankrd53 |
A |
T |
6: 83,740,674 (GRCm39) |
H99L |
probably damaging |
Het |
Ap4e1 |
C |
T |
2: 126,891,280 (GRCm39) |
T17M |
probably damaging |
Het |
Arnt |
T |
A |
3: 95,377,705 (GRCm39) |
|
probably benign |
Het |
Atp1a3 |
C |
T |
7: 24,680,052 (GRCm39) |
G884E |
probably benign |
Het |
Atp6v1b1 |
T |
C |
6: 83,729,826 (GRCm39) |
|
probably benign |
Het |
Atp8a2 |
G |
T |
14: 60,011,193 (GRCm39) |
T971K |
probably damaging |
Het |
BC048562 |
A |
T |
9: 108,323,165 (GRCm39) |
T167S |
probably benign |
Het |
Brd9 |
A |
G |
13: 74,103,592 (GRCm39) |
M491V |
probably benign |
Het |
Btnl10 |
A |
T |
11: 58,814,277 (GRCm39) |
D319V |
probably damaging |
Het |
Cadps |
T |
A |
14: 12,491,800 (GRCm38) |
R783S |
probably damaging |
Het |
Ccdc149 |
A |
G |
5: 52,557,581 (GRCm39) |
|
probably benign |
Het |
Ccm2l |
A |
T |
2: 152,912,782 (GRCm39) |
D107V |
probably null |
Het |
Cep192 |
A |
G |
18: 67,946,964 (GRCm39) |
E213G |
possibly damaging |
Het |
Cyp2c37 |
A |
C |
19: 39,984,238 (GRCm39) |
N242T |
probably benign |
Het |
Dnah17 |
A |
G |
11: 117,930,765 (GRCm39) |
V3750A |
probably damaging |
Het |
Ehbp1 |
T |
A |
11: 22,101,836 (GRCm39) |
I231L |
probably benign |
Het |
Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
Eya4 |
T |
C |
10: 23,031,861 (GRCm39) |
N254S |
possibly damaging |
Het |
Fam184b |
A |
G |
5: 45,741,854 (GRCm39) |
S126P |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,513,940 (GRCm39) |
L108P |
probably damaging |
Het |
Fgf12 |
A |
T |
16: 27,981,281 (GRCm39) |
M145K |
possibly damaging |
Het |
Gabbr1 |
A |
G |
17: 37,357,654 (GRCm39) |
N23S |
possibly damaging |
Het |
Ggt1 |
T |
A |
10: 75,412,047 (GRCm39) |
|
probably benign |
Het |
Gm6434 |
T |
A |
7: 25,581,786 (GRCm39) |
|
noncoding transcript |
Het |
Grik4 |
A |
T |
9: 42,533,392 (GRCm39) |
L376* |
probably null |
Het |
Gvin3 |
T |
A |
7: 106,203,090 (GRCm39) |
L51F |
probably damaging |
Het |
Gzf1 |
A |
G |
2: 148,525,753 (GRCm39) |
T75A |
probably benign |
Het |
Hcn1 |
T |
C |
13: 118,111,911 (GRCm39) |
I625T |
unknown |
Het |
Hhat |
C |
T |
1: 192,235,242 (GRCm39) |
|
probably null |
Het |
Ifit1bl1 |
T |
C |
19: 34,571,914 (GRCm39) |
E181G |
probably damaging |
Het |
Kif21a |
T |
C |
15: 90,852,257 (GRCm39) |
|
probably benign |
Het |
Lrrc45 |
A |
C |
11: 120,606,045 (GRCm39) |
S118R |
probably damaging |
Het |
Mcm9 |
T |
C |
10: 53,424,623 (GRCm39) |
I656V |
probably benign |
Het |
Ms4a5 |
A |
G |
19: 11,261,018 (GRCm39) |
L47S |
probably damaging |
Het |
Mynn |
A |
T |
3: 30,661,608 (GRCm39) |
N230I |
probably benign |
Het |
Nck2 |
T |
C |
1: 43,593,278 (GRCm39) |
S162P |
probably damaging |
Het |
Nfat5 |
T |
C |
8: 108,094,093 (GRCm39) |
F259S |
probably damaging |
Het |
Obox1 |
T |
G |
7: 15,290,178 (GRCm39) |
S174A |
possibly damaging |
Het |
Ociad1 |
T |
A |
5: 73,470,772 (GRCm39) |
|
probably null |
Het |
Pgbd1 |
A |
T |
13: 21,607,336 (GRCm39) |
V286E |
possibly damaging |
Het |
Phlpp2 |
T |
C |
8: 110,666,567 (GRCm39) |
V1032A |
probably damaging |
Het |
Ppm1e |
C |
T |
11: 87,131,440 (GRCm39) |
A318T |
probably damaging |
Het |
Prex1 |
T |
A |
2: 166,431,491 (GRCm39) |
D757V |
probably benign |
Het |
Ptpdc1 |
C |
A |
13: 48,742,595 (GRCm39) |
|
probably null |
Het |
Rbbp5 |
T |
G |
1: 132,421,582 (GRCm39) |
I94R |
possibly damaging |
Het |
Rnpc3 |
A |
G |
3: 113,415,518 (GRCm39) |
V173A |
probably benign |
Het |
Sgsm1 |
A |
T |
5: 113,411,625 (GRCm39) |
N700K |
probably benign |
Het |
Slco1a8 |
T |
G |
6: 141,931,203 (GRCm39) |
|
probably benign |
Het |
Sox14 |
T |
A |
9: 99,757,175 (GRCm39) |
H188L |
probably damaging |
Het |
Spmip11 |
A |
G |
15: 98,468,975 (GRCm39) |
S17G |
probably benign |
Het |
Supt5 |
T |
A |
7: 28,016,754 (GRCm39) |
|
probably benign |
Het |
Synpo |
A |
G |
18: 60,735,490 (GRCm39) |
S819P |
probably damaging |
Het |
Tenm2 |
A |
G |
11: 36,097,951 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,522,973 (GRCm39) |
V1468A |
possibly damaging |
Het |
Tiam2 |
A |
G |
17: 3,553,193 (GRCm39) |
N83S |
probably benign |
Het |
Tle6 |
T |
C |
10: 81,431,145 (GRCm39) |
|
probably benign |
Het |
Tm2d2 |
T |
G |
8: 25,508,130 (GRCm39) |
N91K |
probably damaging |
Het |
Tmem132d |
T |
G |
5: 127,941,710 (GRCm39) |
Q463H |
probably benign |
Het |
Tmf1 |
A |
G |
6: 97,153,102 (GRCm39) |
S324P |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,918,396 (GRCm39) |
T1172A |
probably benign |
Het |
Usp17lb |
A |
T |
7: 104,489,746 (GRCm39) |
C393S |
probably benign |
Het |
Usp42 |
G |
A |
5: 143,700,616 (GRCm39) |
L1136F |
probably damaging |
Het |
Vmn2r92 |
T |
G |
17: 18,389,183 (GRCm39) |
M499R |
probably benign |
Het |
Vps54 |
T |
A |
11: 21,261,071 (GRCm39) |
|
probably benign |
Het |
Wdr6 |
C |
T |
9: 108,450,300 (GRCm39) |
R1076H |
probably benign |
Het |
Wdr72 |
T |
A |
9: 74,118,039 (GRCm39) |
M917K |
possibly damaging |
Het |
Wee2 |
T |
C |
6: 40,433,929 (GRCm39) |
V281A |
probably benign |
Het |
Zc3h6 |
A |
G |
2: 128,856,747 (GRCm39) |
D609G |
probably benign |
Het |
Zfp345 |
G |
A |
2: 150,315,163 (GRCm39) |
H125Y |
possibly damaging |
Het |
Zhx2 |
A |
G |
15: 57,685,236 (GRCm39) |
K202E |
probably damaging |
Het |
Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
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 |
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 |
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'- TTCCAATCTGGAGGAGGGAGAACC -3'
Sequencing Primer
(F):5'- GTTATTCCTCGGAAGGAGATCTACC -3'
(R):5'- GAGAACCTGTATTATGGCTCCAG -3'
|
Posted On |
2013-05-09 |