Incidental Mutation 'R5877:Adam6b'
| ID |
455617 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam6b
|
| Ensembl Gene |
ENSMUSG00000051804 |
| Gene Name |
a disintegrin and metallopeptidase domain 6B |
| Synonyms |
4930523C11Rik |
| MMRRC Submission |
044083-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5877 (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 113453822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 213
(H213L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063317]
|
| AlphaFold |
Q6IMH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063317
AA Change: H213L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: H213L
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| Validation Efficiency |
97% (68/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
A |
G |
17: 72,274,521 (GRCm39) |
W597R |
probably damaging |
Het |
| Ark2n |
G |
T |
18: 77,730,902 (GRCm39) |
|
probably null |
Het |
| Ash1l |
G |
A |
3: 88,888,891 (GRCm39) |
V257I |
probably benign |
Het |
| Atp9b |
C |
T |
18: 80,796,004 (GRCm39) |
V957I |
probably benign |
Het |
| Birc2 |
A |
C |
9: 7,849,347 (GRCm39) |
C576G |
probably damaging |
Het |
| Brca2 |
T |
C |
5: 150,466,686 (GRCm39) |
M2150T |
possibly damaging |
Het |
| C3ar1 |
T |
G |
6: 122,827,581 (GRCm39) |
D212A |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,028,405 (GRCm39) |
F914S |
probably damaging |
Het |
| Camk1d |
T |
C |
2: 5,570,476 (GRCm39) |
I62V |
probably benign |
Het |
| Caskin1 |
T |
C |
17: 24,724,239 (GRCm39) |
M1009T |
possibly damaging |
Het |
| Casp2 |
A |
G |
6: 42,253,571 (GRCm39) |
|
probably benign |
Het |
| Cd2bp2 |
T |
A |
7: 126,793,971 (GRCm39) |
Y106F |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,722,926 (GRCm39) |
C2763Y |
probably damaging |
Het |
| Cyp2g1 |
T |
G |
7: 26,516,065 (GRCm39) |
L310V |
possibly damaging |
Het |
| Dusp22 |
G |
A |
13: 30,891,944 (GRCm39) |
V99M |
probably damaging |
Het |
| Elp1 |
A |
T |
4: 56,787,807 (GRCm39) |
W375R |
probably damaging |
Het |
| Fam131b |
G |
A |
6: 42,297,913 (GRCm39) |
S92L |
probably benign |
Het |
| Fbxw10 |
A |
T |
11: 62,748,542 (GRCm39) |
N390Y |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,756 (GRCm39) |
H928L |
unknown |
Het |
| Gapdhs |
T |
C |
7: 30,431,772 (GRCm39) |
T280A |
probably damaging |
Het |
| Hdac11 |
A |
G |
6: 91,134,524 (GRCm39) |
K50E |
probably damaging |
Het |
| Hif3a |
G |
T |
7: 16,785,071 (GRCm39) |
A181E |
probably damaging |
Het |
| Itgb8 |
A |
G |
12: 119,166,271 (GRCm39) |
S87P |
probably benign |
Het |
| Klhl12 |
T |
A |
1: 134,411,558 (GRCm39) |
Y302* |
probably null |
Het |
| Lhx1 |
C |
A |
11: 84,413,065 (GRCm39) |
D30Y |
probably damaging |
Het |
| Mrpl40 |
A |
G |
16: 18,691,135 (GRCm39) |
Y148H |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,244,484 (GRCm39) |
H1007L |
possibly damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,559,016 (GRCm39) |
I167T |
probably damaging |
Het |
| Nxpe3 |
A |
T |
16: 55,686,564 (GRCm39) |
I148K |
probably damaging |
Het |
| Odf2l |
A |
G |
3: 144,834,771 (GRCm39) |
|
probably null |
Het |
| Otud7b |
C |
T |
3: 96,059,277 (GRCm39) |
R347* |
probably null |
Het |
| P3h4 |
G |
T |
11: 100,304,843 (GRCm39) |
H181Q |
probably benign |
Het |
| P4htm |
T |
A |
9: 108,460,932 (GRCm39) |
Y180F |
possibly damaging |
Het |
| Pcna-ps2 |
A |
G |
19: 9,261,463 (GRCm39) |
I241V |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,480,467 (GRCm39) |
S1947G |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,247,005 (GRCm39) |
I336V |
probably benign |
Het |
| Plcd1 |
T |
C |
9: 118,905,240 (GRCm39) |
D157G |
probably damaging |
Het |
| Plekhm2 |
A |
C |
4: 141,367,004 (GRCm39) |
I212S |
probably damaging |
Het |
| Pmvk |
G |
T |
3: 89,371,676 (GRCm39) |
C57F |
probably benign |
Het |
| Pole |
T |
C |
5: 110,480,329 (GRCm39) |
S91P |
probably benign |
Het |
| Ppargc1b |
C |
G |
18: 61,442,164 (GRCm39) |
D591H |
probably damaging |
Het |
| Ppp4r3b |
A |
T |
11: 29,159,356 (GRCm39) |
D570V |
probably damaging |
Het |
| Pxdn |
T |
A |
12: 30,053,045 (GRCm39) |
I1074N |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,230,489 (GRCm39) |
D1025E |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,133,640 (GRCm39) |
|
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,817,135 (GRCm39) |
|
probably benign |
Het |
| Rps2 |
A |
T |
17: 24,939,890 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
G |
C |
2: 66,530,217 (GRCm39) |
Y709* |
probably null |
Het |
| Skint1 |
T |
A |
4: 111,878,720 (GRCm39) |
C217* |
probably null |
Het |
| Slc50a1 |
T |
C |
3: 89,176,460 (GRCm39) |
Y82C |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,651,423 (GRCm39) |
V567A |
probably benign |
Het |
| Snx27 |
A |
T |
3: 94,410,270 (GRCm39) |
W469R |
probably damaging |
Het |
| Sos2 |
A |
G |
12: 69,643,569 (GRCm39) |
L937P |
probably damaging |
Het |
| Ssh1 |
T |
C |
5: 114,081,181 (GRCm39) |
T728A |
probably benign |
Het |
| Tnfrsf8 |
G |
A |
4: 145,019,257 (GRCm39) |
R193C |
probably benign |
Het |
| Tut4 |
T |
C |
4: 108,370,120 (GRCm39) |
V673A |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,085,113 (GRCm39) |
M583K |
possibly damaging |
Het |
| Usp33 |
G |
A |
3: 152,085,233 (GRCm39) |
C623Y |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 102,017,855 (GRCm39) |
I2562V |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,220,782 (GRCm39) |
D1175G |
probably damaging |
Het |
| Zfp341 |
G |
A |
2: 154,474,209 (GRCm39) |
E338K |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,817,638 (GRCm39) |
|
probably benign |
Het |
| Zp2 |
T |
A |
7: 119,732,562 (GRCm39) |
K661N |
probably null |
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 |
|
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'- CCTCAATGATTCACAGAGCTTTG -3'
(R):5'- AATTATAAGCCGACCCTCCTGG -3'
Sequencing Primer
(F):5'- TCACAGAGCTTTGAACACCTTG -3'
(R):5'- TGGATCAGAATTGGTGTACACAGTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation