Incidental Mutation 'R6235:Adam6b'
| ID |
504897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam6b
|
| Ensembl Gene |
ENSMUSG00000051804 |
| Gene Name |
a disintegrin and metallopeptidase domain 6B |
| Synonyms |
4930523C11Rik |
| MMRRC Submission |
044433-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R6235 (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 113455330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 716
(F716L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063317]
|
| AlphaFold |
Q6IMH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063317
AA Change: F716L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: F716L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
95% (73/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
G |
8: 44,078,949 (GRCm39) |
N425T |
probably benign |
Het |
| Akip1 |
A |
G |
7: 109,306,620 (GRCm39) |
M106V |
probably benign |
Het |
| Aldh1l1 |
A |
T |
6: 90,541,439 (GRCm39) |
I278F |
probably benign |
Het |
| Aplnr |
A |
G |
2: 84,967,970 (GRCm39) |
T332A |
probably benign |
Het |
| Aqp4 |
A |
G |
18: 15,531,170 (GRCm39) |
V197A |
probably damaging |
Het |
| Arid4a |
A |
T |
12: 71,116,546 (GRCm39) |
|
probably null |
Het |
| Baiap2 |
A |
T |
11: 119,872,234 (GRCm39) |
N99Y |
probably damaging |
Het |
| Ceacam1 |
A |
T |
7: 25,171,217 (GRCm39) |
|
probably null |
Het |
| Cep78 |
T |
C |
19: 15,953,850 (GRCm39) |
|
probably null |
Het |
| Cldn3 |
T |
C |
5: 135,015,573 (GRCm39) |
F92S |
possibly damaging |
Het |
| Clec16a |
C |
A |
16: 10,512,499 (GRCm39) |
P812Q |
probably damaging |
Het |
| Cnga4 |
T |
G |
7: 105,056,906 (GRCm39) |
Y336* |
probably null |
Het |
| Copg2 |
A |
G |
6: 30,793,006 (GRCm39) |
I443T |
probably damaging |
Het |
| Crhbp |
C |
A |
13: 95,580,358 (GRCm39) |
A81S |
probably damaging |
Het |
| Csad |
A |
T |
15: 102,087,041 (GRCm39) |
V410D |
probably damaging |
Het |
| Ctps1 |
G |
A |
4: 120,416,003 (GRCm39) |
L207F |
probably benign |
Het |
| Dab2ip |
A |
G |
2: 35,613,099 (GRCm39) |
E1003G |
probably damaging |
Het |
| Ddx31 |
C |
G |
2: 28,734,854 (GRCm39) |
A5G |
probably benign |
Het |
| Dnah12 |
A |
T |
14: 26,576,761 (GRCm39) |
I3004F |
probably damaging |
Het |
| Fbxo15 |
A |
G |
18: 84,999,029 (GRCm39) |
|
probably benign |
Het |
| Fbxw28 |
C |
A |
9: 109,155,258 (GRCm39) |
W356C |
probably damaging |
Het |
| Gimap6 |
G |
T |
6: 48,679,391 (GRCm39) |
T215K |
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,229,594 (GRCm39) |
I152V |
probably damaging |
Het |
| Itk |
T |
C |
11: 46,227,255 (GRCm39) |
E456G |
probably benign |
Het |
| Krt40 |
G |
A |
11: 99,433,920 (GRCm39) |
A22V |
possibly damaging |
Het |
| Lars2 |
T |
C |
9: 123,240,945 (GRCm39) |
V204A |
probably damaging |
Het |
| Lipo3 |
A |
G |
19: 33,760,963 (GRCm39) |
Y140H |
probably damaging |
Het |
| Lrp1 |
G |
A |
10: 127,424,046 (GRCm39) |
R809W |
probably damaging |
Het |
| Magi3 |
C |
T |
3: 103,923,384 (GRCm39) |
G1111D |
probably damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,205,182 (GRCm39) |
V47E |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,303,518 (GRCm39) |
E140G |
probably damaging |
Het |
| Myo1d |
T |
C |
11: 80,583,770 (GRCm39) |
I81V |
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,821,113 (GRCm38) |
Y26* |
probably null |
Het |
| Ntng2 |
C |
A |
2: 29,117,991 (GRCm39) |
E152D |
probably damaging |
Het |
| Or10w1 |
C |
A |
19: 13,632,145 (GRCm39) |
C117* |
probably null |
Het |
| Or5m9b |
T |
C |
2: 85,905,510 (GRCm39) |
L142P |
possibly damaging |
Het |
| Otud3 |
A |
T |
4: 138,629,212 (GRCm39) |
V185D |
probably damaging |
Het |
| Parp6 |
C |
T |
9: 59,538,098 (GRCm39) |
R248W |
probably benign |
Het |
| Pcdhga7 |
A |
G |
18: 37,849,483 (GRCm39) |
T497A |
probably benign |
Het |
| Ppp1r18 |
A |
G |
17: 36,184,769 (GRCm39) |
E140G |
probably damaging |
Het |
| Prl3b1 |
T |
C |
13: 27,431,928 (GRCm39) |
L151P |
probably damaging |
Het |
| Pth1r |
C |
T |
9: 110,551,384 (GRCm39) |
E572K |
possibly damaging |
Het |
| Ptprq |
T |
A |
10: 107,471,199 (GRCm39) |
T1401S |
possibly damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,517 (GRCm39) |
T480A |
possibly damaging |
Het |
| Rax |
T |
A |
18: 66,068,232 (GRCm39) |
Q291L |
unknown |
Het |
| Reck |
T |
C |
4: 43,937,450 (GRCm39) |
L734P |
probably damaging |
Het |
| Rgmb |
A |
G |
17: 16,041,081 (GRCm39) |
F169L |
probably damaging |
Het |
| Rhobtb3 |
T |
C |
13: 76,041,029 (GRCm39) |
I426M |
probably damaging |
Het |
| Ring1 |
C |
A |
17: 34,242,280 (GRCm39) |
A76S |
probably damaging |
Het |
| Robo3 |
T |
G |
9: 37,332,225 (GRCm39) |
Y891S |
probably damaging |
Het |
| Rpusd2 |
A |
G |
2: 118,865,338 (GRCm39) |
I12V |
probably benign |
Het |
| Rragd |
T |
C |
4: 32,995,985 (GRCm39) |
V165A |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Ryr1 |
G |
T |
7: 28,815,606 (GRCm39) |
Q95K |
probably benign |
Het |
| S1pr4 |
T |
A |
10: 81,334,716 (GRCm39) |
N253Y |
possibly damaging |
Het |
| Scn3a |
A |
C |
2: 65,291,679 (GRCm39) |
V1689G |
probably damaging |
Het |
| Sdhb |
A |
G |
4: 140,700,984 (GRCm39) |
N147D |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 142,020,181 (GRCm39) |
H913L |
possibly damaging |
Het |
| Serpina3i |
T |
A |
12: 104,232,791 (GRCm39) |
M232K |
probably damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,201,610 (GRCm39) |
V646E |
probably damaging |
Het |
| Slc38a1 |
A |
T |
15: 96,476,673 (GRCm39) |
I396N |
probably benign |
Het |
| Slc6a13 |
A |
T |
6: 121,279,753 (GRCm39) |
E42D |
probably benign |
Het |
| Stard9 |
G |
A |
2: 120,544,027 (GRCm39) |
V4442M |
probably damaging |
Het |
| Sumo3 |
T |
A |
10: 77,452,071 (GRCm39) |
|
probably benign |
Het |
| Syngap1 |
A |
G |
17: 27,177,104 (GRCm39) |
I356V |
probably benign |
Het |
| Tcam1 |
C |
T |
11: 106,174,880 (GRCm39) |
Q112* |
probably null |
Het |
| Tdp2 |
T |
A |
13: 25,024,378 (GRCm39) |
L225* |
probably null |
Het |
| Tmprss7 |
A |
G |
16: 45,478,485 (GRCm39) |
V747A |
probably benign |
Het |
| Ugt2b34 |
T |
A |
5: 87,054,223 (GRCm39) |
Y186F |
probably benign |
Het |
| Usp37 |
G |
T |
1: 74,514,292 (GRCm39) |
S293* |
probably null |
Het |
| Vmn1r36 |
A |
G |
6: 66,693,230 (GRCm39) |
I109T |
probably benign |
Het |
| Vsig10l |
T |
A |
7: 43,118,396 (GRCm39) |
V798E |
probably benign |
Het |
| Zfp36l1 |
G |
T |
12: 80,159,596 (GRCm39) |
C18* |
probably null |
Het |
| Zfp959 |
T |
C |
17: 56,204,427 (GRCm39) |
Y152H |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,296,373 (GRCm39) |
C1949S |
probably damaging |
Het |
| Zswim9 |
T |
A |
7: 12,995,529 (GRCm39) |
E209V |
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 |
|
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 |
|
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'- TGTAACAATCATCGGAATTGCC -3'
(R):5'- GCCATCCAGAACTGTGAACTTG -3'
Sequencing Primer
(F):5'- CAATCATCGGAATTGCCATTGTC -3'
(R):5'- GAGTTCTACCTTGTTCCCTACTGAC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation