Incidental Mutation 'IGL01467:Adam1a'
| ID |
88140 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adam1a
|
| Ensembl Gene |
ENSMUSG00000072647 |
| Gene Name |
a disintegrin and metallopeptidase domain 1a |
| Synonyms |
fertilin alpha, Ftna, PH-30 alpha |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL01467
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121656667-121659758 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121657791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 501
(C501R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100757]
[ENSMUST00000111795]
[ENSMUST00000125946]
[ENSMUST00000156080]
[ENSMUST00000200170]
|
| AlphaFold |
Q60813 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100757
AA Change: C501R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098320
Gene: ENSMUSG00000072647
AA Change: C501R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
70 |
191 |
1.5e-18 |
PFAM |
|
Pfam:Reprolysin_5
|
233 |
410 |
2.8e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
234 |
421 |
6.3e-9 |
PFAM |
|
Pfam:Reprolysin
|
235 |
429 |
1.3e-70 |
PFAM |
|
Pfam:Reprolysin_3
|
255 |
381 |
3.8e-14 |
PFAM |
|
Pfam:Reprolysin_2
|
255 |
419 |
5.6e-9 |
PFAM |
|
DISIN
|
447 |
520 |
6.45e-37 |
SMART |
|
ACR
|
521 |
660 |
4.59e-62 |
SMART |
|
EGF
|
666 |
697 |
1.99e1 |
SMART |
|
transmembrane domain
|
741 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
764 |
791 |
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: ENSMUST00000125946
|
| SMART Domains |
Protein: ENSMUSP00000142503
Gene: ENSMUSG00000105340
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
22 |
304 |
5.3e-84 |
SMART |
|
coiled coil region
|
407 |
432 |
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 |
probably benign
Transcript: ENSMUST00000200170
|
| SMART Domains |
Protein: ENSMUSP00000143668
Gene: ENSMUSG00000072647
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
22 |
304 |
8.22e-84 |
SMART |
|
coiled coil region
|
407 |
432 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display male infertility with asthenozoospermia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn1 |
C |
T |
13: 45,720,669 (GRCm39) |
V409I |
probably damaging |
Het |
| Cdkn2aip |
T |
C |
8: 48,164,247 (GRCm39) |
R489G |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,686,898 (GRCm39) |
S135P |
probably damaging |
Het |
| Cpne3 |
C |
A |
4: 19,553,737 (GRCm39) |
C98F |
probably benign |
Het |
| Cyp2c23 |
T |
C |
19: 44,003,512 (GRCm39) |
N221S |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,998,890 (GRCm39) |
N3525S |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,019,597 (GRCm39) |
E560G |
probably damaging |
Het |
| Eif2b5 |
C |
A |
16: 20,327,714 (GRCm39) |
C154* |
probably null |
Het |
| Eps8l2 |
A |
G |
7: 140,941,514 (GRCm39) |
E595G |
probably damaging |
Het |
| Gm9839 |
A |
T |
1: 32,559,032 (GRCm39) |
I350N |
probably damaging |
Het |
| Hdlbp |
A |
T |
1: 93,345,420 (GRCm39) |
|
probably benign |
Het |
| Il18rap |
A |
T |
1: 40,587,799 (GRCm39) |
I466F |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,465,457 (GRCm39) |
I2123N |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,715,352 (GRCm39) |
I58T |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,374,435 (GRCm39) |
S899P |
probably damaging |
Het |
| Mmp15 |
T |
A |
8: 96,092,959 (GRCm39) |
F113I |
probably benign |
Het |
| Neb |
T |
C |
2: 52,049,499 (GRCm39) |
H6448R |
possibly damaging |
Het |
| Or1j12 |
C |
T |
2: 36,342,656 (GRCm39) |
R20* |
probably null |
Het |
| Or2m13 |
T |
C |
16: 19,226,539 (GRCm39) |
T77A |
probably benign |
Het |
| Pdgfc |
A |
G |
3: 81,116,398 (GRCm39) |
T251A |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,346,292 (GRCm39) |
|
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,307,144 (GRCm39) |
S269P |
probably damaging |
Het |
| Pip4k2c |
A |
T |
10: 127,035,498 (GRCm39) |
F347L |
probably benign |
Het |
| Platr26 |
T |
C |
2: 71,553,656 (GRCm39) |
|
noncoding transcript |
Het |
| Pnisr |
C |
T |
4: 21,874,650 (GRCm39) |
|
probably benign |
Het |
| Psma5-ps |
A |
G |
10: 85,149,986 (GRCm39) |
|
noncoding transcript |
Het |
| Rab3gap1 |
T |
A |
1: 127,858,121 (GRCm39) |
|
probably null |
Het |
| Scn10a |
C |
T |
9: 119,487,478 (GRCm39) |
V619I |
probably benign |
Het |
| Slc38a11 |
T |
A |
2: 65,147,200 (GRCm39) |
T426S |
probably benign |
Het |
| Son |
T |
C |
16: 91,454,165 (GRCm39) |
S971P |
possibly damaging |
Het |
| Stk33 |
T |
A |
7: 108,928,796 (GRCm39) |
I239L |
probably damaging |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Tmem270 |
G |
T |
5: 134,930,815 (GRCm39) |
|
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Zfp750 |
A |
T |
11: 121,403,767 (GRCm39) |
C369* |
probably null |
Het |
|
| Other mutations in Adam1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01451:Adam1a
|
APN |
5 |
121,657,439 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02158:Adam1a
|
APN |
5 |
121,657,034 (GRCm39) |
nonsense |
probably null |
|
|
R1468:Adam1a
|
UTSW |
5 |
121,657,839 (GRCm39) |
splice site |
probably null |
|
|
R1468:Adam1a
|
UTSW |
5 |
121,657,839 (GRCm39) |
splice site |
probably null |
|
|
R1593:Adam1a
|
UTSW |
5 |
121,657,706 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1848:Adam1a
|
UTSW |
5 |
121,657,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1925:Adam1a
|
UTSW |
5 |
121,657,513 (GRCm39) |
nonsense |
probably null |
|
|
R2176:Adam1a
|
UTSW |
5 |
121,657,649 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2232:Adam1a
|
UTSW |
5 |
121,657,795 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3692:Adam1a
|
UTSW |
5 |
121,657,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Adam1a
|
UTSW |
5 |
121,657,497 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4733:Adam1a
|
UTSW |
5 |
121,657,497 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4835:Adam1a
|
UTSW |
5 |
121,657,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5199:Adam1a
|
UTSW |
5 |
121,659,215 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6026:Adam1a
|
UTSW |
5 |
121,657,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6936:Adam1a
|
UTSW |
5 |
121,657,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7016:Adam1a
|
UTSW |
5 |
121,659,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7124:Adam1a
|
UTSW |
5 |
121,657,397 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7294:Adam1a
|
UTSW |
5 |
121,658,068 (GRCm39) |
nonsense |
probably null |
|
|
R7501:Adam1a
|
UTSW |
5 |
121,657,011 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7641:Adam1a
|
UTSW |
5 |
121,657,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8548:Adam1a
|
UTSW |
5 |
121,658,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8917:Adam1a
|
UTSW |
5 |
121,657,145 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9151:Adam1a
|
UTSW |
5 |
121,657,411 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9400:Adam1a
|
UTSW |
5 |
121,657,893 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Posted On |
2013-11-18 |
Incidental Mutation