Incidental Mutation 'R7003:Adam6b'
| ID |
544685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam6b
|
| Ensembl Gene |
ENSMUSG00000051804 |
| Gene Name |
a disintegrin and metallopeptidase domain 6B |
| Synonyms |
4930523C11Rik |
| MMRRC Submission |
045108-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R7003 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
113453185-113455455 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 113453662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 160
(Q160*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063317]
|
| AlphaFold |
Q6IMH7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000063317
AA Change: Q160*
|
| SMART Domains |
Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: Q160*
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
A |
13: 111,392,490 (GRCm39) |
I275N |
probably damaging |
Het |
| Actr3b |
A |
C |
5: 26,003,461 (GRCm39) |
Y21S |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,670,223 (GRCm39) |
|
probably null |
Het |
| Akr1c6 |
A |
G |
13: 4,504,514 (GRCm39) |
N300D |
probably benign |
Het |
| Alox8 |
T |
C |
11: 69,082,416 (GRCm39) |
D170G |
possibly damaging |
Het |
| Amhr2 |
A |
G |
15: 102,354,768 (GRCm39) |
N40S |
probably benign |
Het |
| Ap2a2 |
A |
G |
7: 141,209,109 (GRCm39) |
N767S |
probably benign |
Het |
| Armc3 |
T |
C |
2: 19,274,839 (GRCm39) |
I358T |
probably damaging |
Het |
| Atg2b |
A |
G |
12: 105,620,508 (GRCm39) |
S732P |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,610,837 (GRCm39) |
Y327C |
possibly damaging |
Het |
| Bcr |
T |
C |
10: 74,897,393 (GRCm39) |
V179A |
probably benign |
Het |
| Cep104 |
T |
C |
4: 154,078,018 (GRCm39) |
L642P |
probably benign |
Het |
| Clspn |
T |
A |
4: 126,486,513 (GRCm39) |
S1302R |
possibly damaging |
Het |
| Cmip |
T |
C |
8: 118,111,727 (GRCm39) |
F153L |
probably benign |
Het |
| Cplane1 |
T |
G |
15: 8,258,246 (GRCm39) |
L2164R |
probably damaging |
Het |
| D630039A03Rik |
T |
C |
4: 57,910,521 (GRCm39) |
D97G |
probably damaging |
Het |
| Dok7 |
A |
T |
5: 35,236,899 (GRCm39) |
T396S |
probably benign |
Het |
| Dsel |
C |
T |
1: 111,788,025 (GRCm39) |
V837I |
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,810,695 (GRCm39) |
T926I |
probably benign |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Gpr155 |
A |
G |
2: 73,173,961 (GRCm39) |
I816T |
probably damaging |
Het |
| Hpn |
C |
T |
7: 30,810,367 (GRCm39) |
|
probably benign |
Het |
| Inpp5e |
A |
G |
2: 26,287,877 (GRCm39) |
S640P |
probably benign |
Het |
| Irs3 |
C |
T |
5: 137,643,539 (GRCm39) |
V82I |
probably benign |
Het |
| Kif16b |
A |
C |
2: 142,600,749 (GRCm39) |
D461E |
possibly damaging |
Het |
| Krba1 |
A |
G |
6: 48,390,014 (GRCm39) |
T592A |
possibly damaging |
Het |
| Lgsn |
T |
A |
1: 31,243,024 (GRCm39) |
S369T |
possibly damaging |
Het |
| Lrrc4b |
C |
T |
7: 44,094,580 (GRCm39) |
P83S |
probably damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,164,319 (GRCm39) |
S39P |
possibly damaging |
Het |
| Neil3 |
T |
C |
8: 54,054,001 (GRCm39) |
T343A |
possibly damaging |
Het |
| Nt5e |
A |
G |
9: 88,246,805 (GRCm39) |
Y347C |
probably damaging |
Het |
| Or1j1 |
A |
G |
2: 36,703,047 (GRCm39) |
I19T |
possibly damaging |
Het |
| Or2d3b |
A |
T |
7: 106,514,319 (GRCm39) |
T305S |
probably benign |
Het |
| Or2f2 |
C |
T |
6: 42,767,399 (GRCm39) |
T142I |
probably benign |
Het |
| Or8g26 |
A |
T |
9: 39,096,239 (GRCm39) |
Y255F |
probably benign |
Het |
| P2rx5 |
T |
C |
11: 73,058,800 (GRCm39) |
|
probably null |
Het |
| Phtf2 |
A |
G |
5: 20,999,399 (GRCm39) |
V248A |
probably benign |
Het |
| Plekhd1 |
T |
C |
12: 80,768,734 (GRCm39) |
C406R |
possibly damaging |
Het |
| Plod3 |
T |
A |
5: 137,018,498 (GRCm39) |
N245K |
probably damaging |
Het |
| Polr3c |
G |
T |
3: 96,630,954 (GRCm39) |
H155Q |
possibly damaging |
Het |
| Psap |
T |
A |
10: 60,135,276 (GRCm39) |
C317S |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 51,967,001 (GRCm39) |
I97V |
probably benign |
Het |
| Rnf123 |
T |
A |
9: 107,940,882 (GRCm39) |
|
probably null |
Het |
| Rnf19a |
G |
A |
15: 36,254,650 (GRCm39) |
R303* |
probably null |
Het |
| Sdk1 |
G |
A |
5: 142,082,489 (GRCm39) |
V1036I |
probably benign |
Het |
| Shc3 |
T |
A |
13: 51,620,588 (GRCm39) |
Y146F |
probably benign |
Het |
| Skint6 |
A |
G |
4: 112,963,109 (GRCm39) |
Y441H |
probably benign |
Het |
| Slc7a12 |
T |
C |
3: 14,570,580 (GRCm39) |
I173T |
probably damaging |
Het |
| Spesp1 |
A |
T |
9: 62,189,302 (GRCm39) |
S15T |
possibly damaging |
Het |
| Tarm1 |
A |
T |
7: 3,545,939 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,693,479 (GRCm39) |
Y1817C |
probably damaging |
Het |
| Ttc9c |
A |
T |
19: 8,795,904 (GRCm39) |
L45Q |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,926,188 (GRCm39) |
T322I |
probably damaging |
Het |
| Vac14 |
T |
A |
8: 111,439,430 (GRCm39) |
V669E |
probably damaging |
Het |
| Vmn1r225 |
A |
G |
17: 20,723,416 (GRCm39) |
M286V |
probably null |
Het |
| Zfp658 |
A |
G |
7: 43,224,172 (GRCm39) |
K816E |
possibly damaging |
Het |
| Zfp846 |
T |
C |
9: 20,499,188 (GRCm39) |
M1T |
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 |
|
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 |
|
|
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'- TCATTTGGCCCAGACACTTG -3'
(R):5'- TGAAAGTGGCCTTTTATAGCAGC -3'
Sequencing Primer
(F):5'- GCCCAGACACTTGTTGCTGAC -3'
(R):5'- ATAGCAGCTGGATGTGTAGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation