Incidental Mutation 'R0573:Adam6b'
ID |
46549 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam6b
|
Ensembl Gene |
ENSMUSG00000051804 |
Gene Name |
a disintegrin and metallopeptidase domain 6B |
Synonyms |
4930523C11Rik |
MMRRC Submission |
038763-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R0573 (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 113455278 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 698
(K698N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065529
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063317]
|
AlphaFold |
Q6IMH7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063317
AA Change: K698N
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000065529 Gene: ENSMUSG00000051804 AA Change: K698N
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.5%
|
Validation Efficiency |
97% (60/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
A |
T |
15: 64,694,044 (GRCm39) |
V411D |
probably damaging |
Het |
Arfgef3 |
T |
A |
10: 18,475,036 (GRCm39) |
E1550V |
probably damaging |
Het |
Asb3 |
T |
A |
11: 31,011,406 (GRCm39) |
I306K |
probably damaging |
Het |
Asic4 |
T |
A |
1: 75,445,746 (GRCm39) |
|
probably benign |
Het |
Basp1 |
G |
T |
15: 25,364,948 (GRCm39) |
D16E |
unknown |
Het |
Cbll1 |
A |
T |
12: 31,540,539 (GRCm39) |
I123N |
probably damaging |
Het |
Ccdc141 |
A |
T |
2: 76,869,837 (GRCm39) |
H889Q |
probably benign |
Het |
Ccdc65 |
T |
C |
15: 98,618,930 (GRCm39) |
V303A |
probably benign |
Het |
Ceacam20 |
T |
A |
7: 19,720,593 (GRCm39) |
M60K |
probably damaging |
Het |
Chd9 |
T |
A |
8: 91,725,223 (GRCm39) |
V711D |
probably damaging |
Het |
Clcn1 |
T |
A |
6: 42,289,979 (GRCm39) |
|
probably null |
Het |
Col16a1 |
A |
T |
4: 129,962,268 (GRCm39) |
|
probably benign |
Het |
Col4a3 |
C |
A |
1: 82,694,084 (GRCm39) |
P1568Q |
possibly damaging |
Het |
Colec12 |
C |
A |
18: 9,858,650 (GRCm39) |
P478T |
probably damaging |
Het |
Dchs1 |
T |
C |
7: 105,407,985 (GRCm39) |
H1949R |
probably damaging |
Het |
Dgka |
A |
G |
10: 128,572,876 (GRCm39) |
|
probably null |
Het |
Dlgap4 |
A |
G |
2: 156,588,111 (GRCm39) |
I669V |
probably benign |
Het |
Dsg1c |
T |
A |
18: 20,412,298 (GRCm39) |
D543E |
probably benign |
Het |
Egflam |
A |
T |
15: 7,271,906 (GRCm39) |
C677* |
probably null |
Het |
Eml5 |
A |
C |
12: 98,791,031 (GRCm39) |
|
probably null |
Het |
Fbn1 |
G |
A |
2: 125,231,169 (GRCm39) |
R466C |
probably damaging |
Het |
Fnbp1 |
C |
A |
2: 30,948,990 (GRCm39) |
D198Y |
probably damaging |
Het |
Gfra3 |
T |
A |
18: 34,824,668 (GRCm39) |
M272L |
probably benign |
Het |
Gm5422 |
T |
A |
10: 31,126,156 (GRCm39) |
|
noncoding transcript |
Het |
Gpr21 |
T |
A |
2: 37,407,556 (GRCm39) |
I34N |
probably damaging |
Het |
Hspb2 |
G |
T |
9: 50,662,664 (GRCm39) |
T155K |
probably benign |
Het |
Il21r |
A |
G |
7: 125,224,457 (GRCm39) |
T24A |
probably benign |
Het |
Mmadhc |
T |
A |
2: 50,182,847 (GRCm39) |
H43L |
possibly damaging |
Het |
Morn1 |
T |
A |
4: 155,195,473 (GRCm39) |
D278E |
possibly damaging |
Het |
Myoc |
T |
C |
1: 162,476,243 (GRCm39) |
Y316H |
probably damaging |
Het |
Nags |
A |
G |
11: 102,037,805 (GRCm39) |
D266G |
probably damaging |
Het |
Nlrp4b |
A |
G |
7: 10,448,142 (GRCm39) |
N115S |
probably benign |
Het |
Nlrp5 |
T |
A |
7: 23,117,056 (GRCm39) |
I260N |
probably damaging |
Het |
Obscn |
G |
A |
11: 58,926,905 (GRCm39) |
R6190C |
probably damaging |
Het |
Or5b24 |
T |
C |
19: 12,912,624 (GRCm39) |
V174A |
possibly damaging |
Het |
Or5be3 |
A |
G |
2: 86,863,812 (GRCm39) |
F251S |
probably damaging |
Het |
Orc4 |
C |
T |
2: 48,807,285 (GRCm39) |
M215I |
probably benign |
Het |
Osbpl6 |
A |
T |
2: 76,420,735 (GRCm39) |
H770L |
probably damaging |
Het |
Otogl |
A |
C |
10: 107,616,849 (GRCm39) |
N1809K |
probably benign |
Het |
Pde3a |
G |
T |
6: 141,437,957 (GRCm39) |
V1009L |
probably damaging |
Het |
Pign |
T |
C |
1: 105,580,902 (GRCm39) |
Y159C |
probably damaging |
Het |
Pik3cg |
C |
A |
12: 32,247,196 (GRCm39) |
M842I |
probably damaging |
Het |
Pnliprp1 |
C |
T |
19: 58,723,314 (GRCm39) |
T235I |
possibly damaging |
Het |
Pramel17 |
A |
C |
4: 101,692,611 (GRCm39) |
V463G |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,381,480 (GRCm39) |
N239D |
probably damaging |
Het |
Psd2 |
T |
A |
18: 36,113,546 (GRCm39) |
|
probably benign |
Het |
Ptprt |
T |
C |
2: 161,393,668 (GRCm39) |
D1251G |
probably damaging |
Het |
Pwp2 |
G |
A |
10: 78,018,520 (GRCm39) |
S88L |
probably benign |
Het |
Rassf4 |
C |
T |
6: 116,624,516 (GRCm39) |
|
probably benign |
Het |
Rexo1 |
A |
G |
10: 80,380,684 (GRCm39) |
S884P |
probably damaging |
Het |
Rgs20 |
C |
A |
1: 5,091,037 (GRCm39) |
R131L |
possibly damaging |
Het |
Setd4 |
A |
G |
16: 93,386,834 (GRCm39) |
V288A |
probably benign |
Het |
Stx3 |
G |
T |
19: 11,763,110 (GRCm39) |
T160K |
probably damaging |
Het |
Tas2r102 |
T |
A |
6: 132,739,636 (GRCm39) |
S181R |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 49,127,434 (GRCm39) |
|
probably benign |
Het |
Tmem33 |
T |
C |
5: 67,421,603 (GRCm39) |
|
probably benign |
Het |
Trim33 |
A |
G |
3: 103,259,306 (GRCm39) |
|
probably benign |
Het |
Trip11 |
A |
G |
12: 101,853,119 (GRCm39) |
I491T |
probably benign |
Het |
Trp53bp1 |
A |
G |
2: 121,058,653 (GRCm39) |
|
probably benign |
Het |
Tuba4a |
T |
C |
1: 75,193,017 (GRCm39) |
D199G |
probably benign |
Het |
Zcchc4 |
A |
G |
5: 52,953,321 (GRCm39) |
Y110C |
probably damaging |
Het |
Zp2 |
C |
T |
7: 119,734,693 (GRCm39) |
|
probably benign |
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 |
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 |
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'- TGGAAGGTTGCAGTGTACCAATGTC -3'
(R):5'- CTGGTCCTTGCCCAGAACGTAAAG -3'
Sequencing Primer
(F):5'- CCTGCTCCAAAAGTAAGTTCTGTG -3'
(R):5'- CCAGAACGTAAAGTAGCTTGC -3'
|
Posted On |
2013-06-11 |