Incidental Mutation 'R7781:Adam6b'
| ID |
599254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam6b
|
| Ensembl Gene |
ENSMUSG00000051804 |
| Gene Name |
a disintegrin and metallopeptidase domain 6B |
| Synonyms |
4930523C11Rik |
| MMRRC Submission |
045837-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R7781 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
113453185-113455455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113454962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 593
(F593S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063317]
|
| AlphaFold |
Q6IMH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063317
AA Change: F593S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: F593S
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700064H15Rik |
G |
A |
3: 19,682,706 (GRCm39) |
P23S |
unknown |
Het |
| Abcc6 |
C |
T |
7: 45,655,030 (GRCm39) |
R487Q |
probably damaging |
Het |
| Abl1 |
A |
T |
2: 31,680,709 (GRCm39) |
T334S |
probably damaging |
Het |
| Alx1 |
A |
T |
10: 102,845,053 (GRCm39) |
M326K |
probably damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,758,258 (GRCm39) |
D984V |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,562,644 (GRCm39) |
N202S |
probably benign |
Het |
| Ate1 |
A |
T |
7: 130,121,157 (GRCm39) |
V12E |
probably damaging |
Het |
| Atl2 |
A |
T |
17: 80,167,260 (GRCm39) |
Y254N |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,116,226 (GRCm39) |
M630T |
probably benign |
Het |
| Atp5po |
A |
T |
16: 91,723,417 (GRCm39) |
I124N |
possibly damaging |
Het |
| BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
| Bicdl1 |
T |
C |
5: 115,799,546 (GRCm39) |
E181G |
probably damaging |
Het |
| Bnipl |
C |
A |
3: 95,151,486 (GRCm39) |
W272L |
probably damaging |
Het |
| Catsperd |
A |
T |
17: 56,971,072 (GRCm39) |
H712L |
probably benign |
Het |
| Cilp2 |
T |
C |
8: 70,334,997 (GRCm39) |
D667G |
possibly damaging |
Het |
| Cntn4 |
A |
C |
6: 106,500,575 (GRCm39) |
K351Q |
probably damaging |
Het |
| Coq7 |
A |
T |
7: 118,125,111 (GRCm39) |
I171N |
probably damaging |
Het |
| Csf2rb |
T |
A |
15: 78,228,771 (GRCm39) |
F371I |
probably benign |
Het |
| Cyp3a13 |
C |
T |
5: 137,897,136 (GRCm39) |
V393M |
possibly damaging |
Het |
| Dennd2a |
A |
G |
6: 39,470,000 (GRCm39) |
V564A |
probably damaging |
Het |
| Ear14 |
T |
C |
14: 51,441,468 (GRCm39) |
L108P |
probably damaging |
Het |
| Egflam |
C |
A |
15: 7,283,227 (GRCm39) |
V277F |
probably null |
Het |
| Epb42 |
T |
G |
2: 120,864,916 (GRCm39) |
K58N |
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,265,089 (GRCm39) |
M596V |
probably benign |
Het |
| Fbxw15 |
T |
A |
9: 109,386,330 (GRCm39) |
T270S |
possibly damaging |
Het |
| Gabpb1 |
C |
T |
2: 126,481,120 (GRCm39) |
C342Y |
possibly damaging |
Het |
| Gls |
A |
T |
1: 52,251,492 (GRCm39) |
C288* |
probably null |
Het |
| Grm8 |
G |
T |
6: 27,285,786 (GRCm39) |
D875E |
probably benign |
Het |
| Hdac4 |
C |
A |
1: 91,903,387 (GRCm39) |
R514L |
probably benign |
Het |
| Hps4 |
T |
A |
5: 112,518,388 (GRCm39) |
N460K |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,627,394 (GRCm39) |
F565S |
probably damaging |
Het |
| Kcnh5 |
C |
A |
12: 75,023,455 (GRCm39) |
V538F |
probably damaging |
Het |
| Kcp |
T |
C |
6: 29,497,764 (GRCm39) |
N499S |
probably damaging |
Het |
| Klk15 |
T |
C |
7: 43,588,980 (GRCm39) |
L244S |
probably benign |
Het |
| Lamp3 |
A |
T |
16: 19,518,440 (GRCm39) |
S266T |
possibly damaging |
Het |
| Lemd3 |
A |
G |
10: 120,761,678 (GRCm39) |
F863L |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,747,838 (GRCm39) |
V663D |
probably damaging |
Het |
| Naa15 |
A |
G |
3: 51,378,904 (GRCm39) |
|
probably null |
Het |
| Ndrg3 |
C |
A |
2: 156,770,733 (GRCm39) |
G352* |
probably null |
Het |
| Nr2f6 |
G |
T |
8: 71,828,595 (GRCm39) |
N233K |
possibly damaging |
Het |
| Or4a79 |
A |
G |
2: 89,551,879 (GRCm39) |
F192S |
probably benign |
Het |
| Plxnb2 |
T |
A |
15: 89,041,225 (GRCm39) |
M1774L |
possibly damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rpl23a |
G |
A |
11: 78,073,654 (GRCm39) |
R62W |
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,269,530 (GRCm39) |
R63G |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,767,055 (GRCm39) |
D2976G |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 130,923,258 (GRCm39) |
Y496H |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,218,566 (GRCm39) |
V257A |
possibly damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,201,112 (GRCm39) |
|
probably null |
Het |
| Slc4a1ap |
T |
C |
5: 31,684,822 (GRCm39) |
S153P |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,376,791 (GRCm39) |
E1006V |
possibly damaging |
Het |
| Svep1 |
T |
G |
4: 58,069,251 (GRCm39) |
E2845A |
possibly damaging |
Het |
| Tlr1 |
T |
C |
5: 65,084,079 (GRCm39) |
N166S |
possibly damaging |
Het |
| Tmem231 |
C |
T |
8: 112,644,922 (GRCm39) |
|
probably null |
Het |
| Tsc2 |
C |
A |
17: 24,827,089 (GRCm39) |
L873F |
possibly damaging |
Het |
| Unc13b |
T |
G |
4: 43,259,546 (GRCm39) |
S1403A |
possibly damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,553 (GRCm39) |
F236L |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,789,714 (GRCm39) |
S431G |
probably benign |
Het |
| Wdr7 |
A |
T |
18: 63,910,860 (GRCm39) |
K751* |
probably null |
Het |
| Wdr90 |
C |
T |
17: 26,065,300 (GRCm39) |
R1652Q |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 105,931,895 (GRCm39) |
Y366H |
probably damaging |
Het |
| Zfp1005 |
A |
T |
2: 150,109,577 (GRCm39) |
H89L |
possibly damaging |
Het |
| Zfp607a |
C |
T |
7: 27,565,000 (GRCm39) |
R56C |
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 |
|
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 |
|
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'- GGTAACTGCACTGATCGCAAC -3'
(R):5'- GGGTGCAGTCATAACCCAAATG -3'
Sequencing Primer
(F):5'- TGATCGCAACATACAATGCATGG -3'
(R):5'- TGAGATAAACTTCCACTGCAAGCTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation