Incidental Mutation 'IGL03258:Adam1b'
| ID |
414732 |
| 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 # |
IGL03258
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121638161-121641498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121639447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 533
(S533P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079368]
[ENSMUST00000111795]
[ENSMUST00000156080]
|
| AlphaFold |
Q8R534 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079368
AA Change: S533P
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078343
Gene: ENSMUSG00000062438
AA Change: S533P
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,931,210 (GRCm39) |
|
probably benign |
Het |
| Akr1c6 |
G |
T |
13: 4,486,408 (GRCm39) |
G72C |
probably damaging |
Het |
| Carf |
C |
T |
1: 60,148,388 (GRCm39) |
T28I |
possibly damaging |
Het |
| Cog1 |
G |
A |
11: 113,545,919 (GRCm39) |
W398* |
probably null |
Het |
| Dmpk |
A |
G |
7: 18,826,131 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
T |
C |
18: 50,053,960 (GRCm39) |
V2534A |
probably damaging |
Het |
| Fam78b |
A |
T |
1: 166,906,323 (GRCm39) |
T161S |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,969,215 (GRCm39) |
T1161S |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,830,085 (GRCm39) |
D710V |
probably damaging |
Het |
| H2-Q4 |
A |
G |
17: 35,599,095 (GRCm39) |
I122V |
probably benign |
Het |
| Ifi211 |
A |
T |
1: 173,733,098 (GRCm39) |
C188S |
probably benign |
Het |
| Lamc3 |
A |
C |
2: 31,777,695 (GRCm39) |
S114R |
probably damaging |
Het |
| Lrrc57 |
C |
T |
2: 120,435,703 (GRCm39) |
A239T |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,058,887 (GRCm39) |
Y707H |
probably damaging |
Het |
| Ms4a6b |
T |
G |
19: 11,499,072 (GRCm39) |
L62R |
probably damaging |
Het |
| Mtmr4 |
A |
T |
11: 87,502,829 (GRCm39) |
H961L |
possibly damaging |
Het |
| Myrip |
A |
G |
9: 120,270,418 (GRCm39) |
N556S |
probably benign |
Het |
| Osgep |
T |
C |
14: 51,155,346 (GRCm39) |
T71A |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,411,371 (GRCm39) |
T887A |
probably benign |
Het |
| Pwwp2a |
T |
A |
11: 43,595,392 (GRCm39) |
F186I |
probably benign |
Het |
| Serpina1b |
G |
T |
12: 103,696,655 (GRCm39) |
S251R |
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,467,936 (GRCm39) |
|
probably null |
Het |
| Slc24a5 |
G |
T |
2: 124,922,625 (GRCm39) |
|
probably null |
Het |
| Slc25a17 |
A |
G |
15: 81,213,243 (GRCm39) |
|
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 75,986,386 (GRCm39) |
V98A |
possibly damaging |
Het |
| Susd1 |
A |
T |
4: 59,379,655 (GRCm39) |
I324N |
possibly damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,566,773 (GRCm39) |
L772P |
probably damaging |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation