Incidental Mutation 'IGL01906:Adam1b'
ID |
179680 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adam1b
|
Ensembl Gene |
ENSMUSG00000062438 |
Gene Name |
a disintegrin and metallopeptidase domain 1b |
Synonyms |
PH-30 alpha, fertilin alpha, Ftna |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01906
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
121638161-121641498 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121639538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 502
(N502K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078343
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079368]
[ENSMUST00000111795]
[ENSMUST00000156080]
|
AlphaFold |
Q8R534 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079368
AA Change: N502K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000078343 Gene: ENSMUSG00000062438 AA Change: N502K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
38 |
159 |
1.6e-18 |
PFAM |
Pfam:Reprolysin_5
|
201 |
378 |
2.9e-15 |
PFAM |
Pfam:Reprolysin_4
|
202 |
386 |
6.8e-9 |
PFAM |
Pfam:Reprolysin
|
203 |
397 |
2.4e-70 |
PFAM |
Pfam:Reprolysin_3
|
223 |
349 |
3.9e-14 |
PFAM |
Pfam:Reprolysin_2
|
223 |
387 |
5.8e-9 |
PFAM |
DISIN
|
415 |
488 |
8.08e-29 |
SMART |
ACR
|
489 |
628 |
3.41e-47 |
SMART |
EGF
|
634 |
665 |
2.34e1 |
SMART |
transmembrane domain
|
705 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
763 |
801 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111795
|
SMART Domains |
Protein: ENSMUSP00000144614 Gene: ENSMUSG00000029452
Domain | Start | End | E-Value | Type |
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156080
|
SMART Domains |
Protein: ENSMUSP00000121579 Gene: ENSMUSG00000029452
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
transmembrane domain
|
94 |
116 |
N/A |
INTRINSIC |
transmembrane domain
|
140 |
162 |
N/A |
INTRINSIC |
transmembrane domain
|
205 |
227 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196484
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable, healthy and fertile with no significant defects in sperm function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,166,225 (GRCm39) |
Q24L |
probably damaging |
Het |
Adam6a |
T |
A |
12: 113,507,951 (GRCm39) |
M108K |
probably benign |
Het |
Akr1b10 |
A |
G |
6: 34,364,746 (GRCm39) |
K69R |
probably benign |
Het |
Ap5b1 |
T |
A |
19: 5,621,007 (GRCm39) |
L809* |
probably null |
Het |
Asxl3 |
A |
T |
18: 22,655,338 (GRCm39) |
H1116L |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,945,353 (GRCm39) |
T2794A |
probably damaging |
Het |
Bst1 |
T |
C |
5: 43,994,861 (GRCm39) |
F248L |
probably damaging |
Het |
Cep120 |
A |
T |
18: 53,847,984 (GRCm39) |
V625E |
probably benign |
Het |
Cgnl1 |
T |
C |
9: 71,631,849 (GRCm39) |
M501V |
probably benign |
Het |
Col19a1 |
T |
A |
1: 24,356,510 (GRCm39) |
D661V |
probably damaging |
Het |
Copb2 |
A |
T |
9: 98,462,383 (GRCm39) |
E456V |
probably benign |
Het |
Csk |
A |
G |
9: 57,536,304 (GRCm39) |
I201T |
probably damaging |
Het |
Cttnbp2 |
G |
T |
6: 18,378,375 (GRCm39) |
S977* |
probably null |
Het |
Ddr2 |
A |
G |
1: 169,809,668 (GRCm39) |
W770R |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,214,613 (GRCm39) |
I1126T |
probably damaging |
Het |
Ephb4 |
A |
T |
5: 137,359,456 (GRCm39) |
E342V |
probably damaging |
Het |
Erc2 |
T |
A |
14: 27,863,263 (GRCm39) |
L496Q |
probably damaging |
Het |
Faim2 |
G |
A |
15: 99,412,314 (GRCm39) |
T140I |
probably damaging |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Haus3 |
A |
C |
5: 34,325,667 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,543,638 (GRCm39) |
T2846A |
probably benign |
Het |
Mto1 |
T |
C |
9: 78,372,213 (GRCm39) |
V561A |
probably benign |
Het |
Myb |
T |
C |
10: 21,028,533 (GRCm39) |
Y110C |
probably damaging |
Het |
Or4k36 |
T |
C |
2: 111,146,246 (GRCm39) |
C141R |
probably damaging |
Het |
Plcd3 |
T |
C |
11: 102,967,682 (GRCm39) |
Y420C |
probably damaging |
Het |
Plk4 |
G |
T |
3: 40,764,816 (GRCm39) |
M603I |
probably null |
Het |
Scgb1b24 |
T |
C |
7: 33,443,538 (GRCm39) |
C66R |
probably damaging |
Het |
Sec23a |
T |
C |
12: 59,053,830 (GRCm39) |
Y56C |
probably damaging |
Het |
Setd1b |
C |
A |
5: 123,295,730 (GRCm39) |
D1099E |
unknown |
Het |
Sh2d7 |
G |
A |
9: 54,446,750 (GRCm39) |
|
probably benign |
Het |
Slc30a10 |
A |
T |
1: 185,188,593 (GRCm39) |
K221* |
probably null |
Het |
Slc5a1 |
T |
C |
5: 33,311,997 (GRCm39) |
L463P |
probably damaging |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Strc |
T |
C |
2: 121,208,115 (GRCm39) |
T419A |
probably benign |
Het |
Styxl2 |
A |
C |
1: 165,927,092 (GRCm39) |
L840R |
probably damaging |
Het |
Ttc39a |
T |
C |
4: 109,278,591 (GRCm39) |
M82T |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vps13b |
T |
C |
15: 35,639,993 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Adam1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00566:Adam1b
|
APN |
5 |
121,639,056 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01696:Adam1b
|
APN |
5 |
121,638,856 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL02003:Adam1b
|
APN |
5 |
121,639,354 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02438:Adam1b
|
APN |
5 |
121,639,101 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02479:Adam1b
|
APN |
5 |
121,639,461 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03258:Adam1b
|
APN |
5 |
121,639,447 (GRCm39) |
missense |
possibly damaging |
0.94 |
PIT4519001:Adam1b
|
UTSW |
5 |
121,640,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R1695:Adam1b
|
UTSW |
5 |
121,638,970 (GRCm39) |
missense |
probably benign |
0.02 |
R1816:Adam1b
|
UTSW |
5 |
121,639,788 (GRCm39) |
missense |
probably damaging |
0.99 |
R1831:Adam1b
|
UTSW |
5 |
121,641,000 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1833:Adam1b
|
UTSW |
5 |
121,641,000 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1839:Adam1b
|
UTSW |
5 |
121,639,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R2031:Adam1b
|
UTSW |
5 |
121,639,118 (GRCm39) |
missense |
possibly damaging |
0.73 |
R2110:Adam1b
|
UTSW |
5 |
121,638,777 (GRCm39) |
intron |
probably benign |
|
R2112:Adam1b
|
UTSW |
5 |
121,638,777 (GRCm39) |
intron |
probably benign |
|
R2570:Adam1b
|
UTSW |
5 |
121,639,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R3020:Adam1b
|
UTSW |
5 |
121,639,446 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4573:Adam1b
|
UTSW |
5 |
121,638,856 (GRCm39) |
missense |
probably benign |
0.18 |
R4574:Adam1b
|
UTSW |
5 |
121,638,856 (GRCm39) |
missense |
probably benign |
0.18 |
R5023:Adam1b
|
UTSW |
5 |
121,639,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R5364:Adam1b
|
UTSW |
5 |
121,638,946 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6553:Adam1b
|
UTSW |
5 |
121,639,250 (GRCm39) |
missense |
probably benign |
0.05 |
R6585:Adam1b
|
UTSW |
5 |
121,639,250 (GRCm39) |
missense |
probably benign |
0.05 |
R6600:Adam1b
|
UTSW |
5 |
121,639,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R7285:Adam1b
|
UTSW |
5 |
121,639,056 (GRCm39) |
missense |
probably damaging |
0.96 |
R7549:Adam1b
|
UTSW |
5 |
121,639,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R7843:Adam1b
|
UTSW |
5 |
121,639,500 (GRCm39) |
missense |
probably damaging |
0.99 |
R8024:Adam1b
|
UTSW |
5 |
121,638,986 (GRCm39) |
missense |
probably benign |
0.39 |
R8306:Adam1b
|
UTSW |
5 |
121,641,212 (GRCm39) |
intron |
probably benign |
|
R8409:Adam1b
|
UTSW |
5 |
121,639,540 (GRCm39) |
missense |
probably benign |
0.00 |
R8552:Adam1b
|
UTSW |
5 |
121,639,504 (GRCm39) |
missense |
probably benign |
0.02 |
R9027:Adam1b
|
UTSW |
5 |
121,640,788 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2014-05-07 |