Incidental Mutation 'R7372:Adam6b'
| ID |
572178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam6b
|
| Ensembl Gene |
ENSMUSG00000051804 |
| Gene Name |
a disintegrin and metallopeptidase domain 6B |
| Synonyms |
4930523C11Rik |
| MMRRC Submission |
045455-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R7372 (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 A
at 113453784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 200
(D200E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063317]
|
| AlphaFold |
Q6IMH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063317
AA Change: D200E
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: D200E
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
G |
A |
1: 156,450,189 (GRCm39) |
V119M |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,399,100 (GRCm39) |
V454A |
probably damaging |
Het |
| Adarb1 |
T |
A |
10: 77,131,712 (GRCm39) |
|
probably null |
Het |
| Aqp12 |
C |
T |
1: 92,934,088 (GRCm39) |
|
probably benign |
Het |
| Atrnl1 |
T |
C |
19: 57,924,078 (GRCm39) |
V1281A |
possibly damaging |
Het |
| Brdt |
A |
G |
5: 107,518,160 (GRCm39) |
E761G |
possibly damaging |
Het |
| Bsn |
A |
T |
9: 107,987,718 (GRCm39) |
I2678N |
unknown |
Het |
| C2cd2 |
A |
T |
16: 97,676,580 (GRCm39) |
C136S |
|
Het |
| Camk4 |
A |
G |
18: 33,318,178 (GRCm39) |
D445G |
probably benign |
Het |
| Cckar |
T |
C |
5: 53,864,624 (GRCm39) |
T26A |
probably damaging |
Het |
| Cd209a |
T |
A |
8: 3,798,857 (GRCm39) |
|
probably null |
Het |
| Cept1 |
A |
G |
3: 106,411,056 (GRCm39) |
F379S |
probably benign |
Het |
| Crhr1 |
A |
G |
11: 104,054,719 (GRCm39) |
|
probably null |
Het |
| Cryzl1 |
T |
C |
16: 91,509,085 (GRCm39) |
E72G |
probably benign |
Het |
| Ctnnal1 |
T |
A |
4: 56,826,285 (GRCm39) |
E526V |
possibly damaging |
Het |
| Cyp3a41a |
T |
C |
5: 145,650,374 (GRCm39) |
I90V |
possibly damaging |
Het |
| Dek |
T |
C |
13: 47,259,053 (GRCm39) |
E51G |
unknown |
Het |
| Dnaaf6rt |
A |
T |
1: 31,262,432 (GRCm39) |
D138V |
probably damaging |
Het |
| Evc2 |
T |
A |
5: 37,544,477 (GRCm39) |
V742E |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,944,358 (GRCm39) |
V1084M |
probably damaging |
Het |
| Fscb |
G |
A |
12: 64,518,598 (GRCm39) |
T956I |
unknown |
Het |
| Glipr2 |
T |
C |
4: 43,968,184 (GRCm39) |
L29P |
probably damaging |
Het |
| Gm19402 |
A |
T |
10: 77,526,261 (GRCm39) |
S111T |
unknown |
Het |
| Gm4553 |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
7: 141,719,157 (GRCm39) |
|
probably benign |
Het |
| Gnl3 |
T |
C |
14: 30,738,843 (GRCm39) |
K115E |
probably benign |
Het |
| Gpn1 |
T |
A |
5: 31,658,465 (GRCm39) |
F147I |
probably damaging |
Het |
| Gsdmd |
T |
A |
15: 75,737,618 (GRCm39) |
L232H |
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,880,216 (GRCm39) |
V500A |
possibly damaging |
Het |
| Hemk1 |
T |
C |
9: 107,214,267 (GRCm39) |
E55G |
probably benign |
Het |
| Hs2st1 |
A |
T |
3: 144,141,221 (GRCm39) |
|
probably null |
Het |
| Ighv1-63 |
A |
G |
12: 115,459,486 (GRCm39) |
V37A |
probably damaging |
Het |
| Iqsec3 |
C |
A |
6: 121,360,991 (GRCm39) |
E956* |
probably null |
Het |
| Kcnh8 |
T |
A |
17: 53,201,129 (GRCm39) |
I521K |
probably damaging |
Het |
| Kif3c |
T |
A |
12: 3,437,592 (GRCm39) |
M531K |
probably benign |
Het |
| Kif5c |
T |
A |
2: 49,648,671 (GRCm39) |
|
probably null |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Lcor |
T |
C |
19: 41,573,945 (GRCm39) |
L900P |
probably damaging |
Het |
| Lrrc32 |
A |
G |
7: 98,149,014 (GRCm39) |
D598G |
probably benign |
Het |
| Mug2 |
T |
C |
6: 122,060,425 (GRCm39) |
V1387A |
possibly damaging |
Het |
| Nin |
T |
A |
12: 70,102,803 (GRCm39) |
E275V |
|
Het |
| Or5p68 |
A |
G |
7: 107,945,703 (GRCm39) |
F162L |
probably benign |
Het |
| Papolg |
A |
G |
11: 23,816,439 (GRCm39) |
I698T |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,639,840 (GRCm39) |
N789D |
probably benign |
Het |
| Pik3cg |
C |
T |
12: 32,247,196 (GRCm39) |
M842I |
probably damaging |
Het |
| Pnn |
T |
A |
12: 59,115,765 (GRCm39) |
D135E |
probably damaging |
Het |
| Pold1 |
C |
A |
7: 44,192,847 (GRCm39) |
R5L |
possibly damaging |
Het |
| Prl8a1 |
A |
T |
13: 27,758,089 (GRCm39) |
F207I |
probably damaging |
Het |
| Prr11 |
A |
G |
11: 86,989,600 (GRCm39) |
V257A |
probably benign |
Het |
| Prtg |
C |
T |
9: 72,758,848 (GRCm39) |
R401* |
probably null |
Het |
| Rasgrp1 |
A |
G |
2: 117,115,635 (GRCm39) |
M651T |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,695,885 (GRCm39) |
H2994L |
probably damaging |
Het |
| Snx13 |
A |
T |
12: 35,128,950 (GRCm39) |
I23L |
probably benign |
Het |
| Snx7 |
A |
G |
3: 117,576,000 (GRCm39) |
L429P |
probably damaging |
Het |
| Spta1 |
C |
T |
1: 174,025,201 (GRCm39) |
Q689* |
probably null |
Het |
| Spty2d1 |
T |
C |
7: 46,648,692 (GRCm39) |
D79G |
probably damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,059,515 (GRCm39) |
|
probably null |
Het |
| Tnxb |
T |
C |
17: 34,936,228 (GRCm39) |
F2722L |
possibly damaging |
Het |
| Tppp2 |
C |
T |
14: 52,156,865 (GRCm39) |
R81C |
probably benign |
Het |
| Trim6 |
G |
T |
7: 103,881,843 (GRCm39) |
A391S |
probably benign |
Het |
| Trim69 |
A |
C |
2: 122,009,064 (GRCm39) |
T375P |
possibly damaging |
Het |
| Trim72 |
A |
G |
7: 127,603,858 (GRCm39) |
N68S |
possibly damaging |
Het |
| Trrap |
G |
A |
5: 144,726,208 (GRCm39) |
V386I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,778,275 (GRCm39) |
I1371V |
unknown |
Het |
| Usp17lb |
A |
T |
7: 104,490,913 (GRCm39) |
|
probably null |
Het |
| Vmn2r20 |
A |
T |
6: 123,362,468 (GRCm39) |
L772Q |
probably damaging |
Het |
| Ypel3 |
A |
G |
7: 126,379,200 (GRCm39) |
E91G |
probably benign |
Het |
| Zbtb21 |
C |
T |
16: 97,751,569 (GRCm39) |
E905K |
possibly damaging |
Het |
| Zfp189 |
T |
A |
4: 49,530,417 (GRCm39) |
C507S |
possibly 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 |
|
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 |
|
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'- CACAATCCATGGTCACTGTGG -3'
(R):5'- CGCATATGAAGATTGGTCAGATAGG -3'
Sequencing Primer
(F):5'- CAATCCATGGTCACTGTGGATACTTG -3'
(R):5'- TGGTCAGATAGGTGTCCATTAAAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation