Incidental Mutation 'IGL00566:Adam1b'
| ID |
8568 |
| 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 # |
IGL00566
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121638161-121641498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121639056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 663
(D663G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079368]
[ENSMUST00000111795]
[ENSMUST00000156080]
|
| AlphaFold |
Q8R534 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079368
AA Change: D663G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078343
Gene: ENSMUSG00000062438
AA Change: D663G
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,274,815 (GRCm39) |
T173A |
possibly damaging |
Het |
| Acaa2 |
G |
A |
18: 74,926,449 (GRCm39) |
G135E |
probably damaging |
Het |
| Actr2 |
C |
A |
11: 20,022,487 (GRCm39) |
R328L |
possibly damaging |
Het |
| Adcy10 |
A |
T |
1: 165,379,483 (GRCm39) |
E915V |
probably benign |
Het |
| Antxr2 |
G |
A |
5: 98,034,466 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,398,972 (GRCm39) |
|
probably benign |
Het |
| Clec4g |
T |
C |
8: 3,766,410 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
A |
G |
17: 25,202,925 (GRCm39) |
V368A |
probably benign |
Het |
| Diaph3 |
C |
T |
14: 87,240,307 (GRCm39) |
R248K |
probably benign |
Het |
| Fut10 |
T |
C |
8: 31,725,712 (GRCm39) |
Y156H |
probably damaging |
Het |
| Ice2 |
T |
C |
9: 69,323,395 (GRCm39) |
V630A |
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,467,174 (GRCm39) |
V179D |
probably damaging |
Het |
| Kcnj2 |
A |
C |
11: 110,962,653 (GRCm39) |
E15A |
probably damaging |
Het |
| Kifbp |
G |
T |
10: 62,395,118 (GRCm39) |
S508* |
probably null |
Het |
| Lpcat2b |
T |
A |
5: 107,581,670 (GRCm39) |
L333Q |
probably damaging |
Het |
| Lrguk |
A |
C |
6: 34,033,109 (GRCm39) |
L258F |
probably damaging |
Het |
| M6pr |
A |
T |
6: 122,290,337 (GRCm39) |
K100M |
probably damaging |
Het |
| Nop14 |
T |
C |
5: 34,798,657 (GRCm39) |
|
probably benign |
Het |
| Pcdh20 |
A |
G |
14: 88,705,317 (GRCm39) |
V661A |
possibly damaging |
Het |
| Vcan |
A |
T |
13: 89,837,098 (GRCm39) |
H2815Q |
probably benign |
Het |
|
| Other mutations in Adam1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01696:Adam1b
|
APN |
5 |
121,638,856 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01906:Adam1b
|
APN |
5 |
121,639,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2012-12-06 |
Incidental Mutation