Incidental Mutation 'IGL01451:Adam1a'
| ID |
84646 |
| 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: 0.058)
|
| Stock # |
IGL01451
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121656667-121659758 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121657439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 618
(Y618C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100757]
[ENSMUST00000111795]
[ENSMUST00000125946]
[ENSMUST00000156080]
[ENSMUST00000200170]
|
| AlphaFold |
Q60813 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100757
AA Change: Y618C
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000098320
Gene: ENSMUSG00000072647
AA Change: Y618C
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
A |
G |
3: 124,373,527 (GRCm39) |
S23P |
possibly damaging |
Het |
| Amigo2 |
A |
C |
15: 97,143,107 (GRCm39) |
S438R |
probably benign |
Het |
| Atp5me |
T |
C |
5: 108,581,922 (GRCm39) |
I21V |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,365,017 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,260,390 (GRCm39) |
Y984H |
probably damaging |
Het |
| Dpysl2 |
T |
A |
14: 67,045,367 (GRCm39) |
I469F |
possibly damaging |
Het |
| Edem3 |
C |
T |
1: 151,694,379 (GRCm39) |
T886I |
probably benign |
Het |
| Gart |
T |
C |
16: 91,422,400 (GRCm39) |
T706A |
probably benign |
Het |
| Gfpt2 |
A |
T |
11: 49,698,517 (GRCm39) |
|
probably benign |
Het |
| Gm11541 |
T |
G |
11: 94,586,495 (GRCm39) |
D84A |
unknown |
Het |
| Gne |
T |
C |
4: 44,041,860 (GRCm39) |
|
probably null |
Het |
| Gria4 |
A |
T |
9: 4,503,652 (GRCm39) |
D321E |
probably benign |
Het |
| Ift122 |
T |
G |
6: 115,889,565 (GRCm39) |
|
probably null |
Het |
| Lcp2 |
A |
T |
11: 33,997,345 (GRCm39) |
|
probably benign |
Het |
| Mcm2 |
C |
T |
6: 88,868,948 (GRCm39) |
|
probably benign |
Het |
| Or8b54 |
A |
G |
9: 38,687,225 (GRCm39) |
I225V |
probably benign |
Het |
| Ptpru |
C |
A |
4: 131,496,803 (GRCm39) |
|
probably benign |
Het |
| Rpap2 |
T |
C |
5: 107,751,492 (GRCm39) |
|
probably null |
Het |
| Slc25a39 |
T |
C |
11: 102,295,726 (GRCm39) |
T138A |
probably damaging |
Het |
| St6galnac1 |
A |
C |
11: 116,660,165 (GRCm39) |
S49R |
probably benign |
Het |
| Stat1 |
T |
C |
1: 52,178,502 (GRCm39) |
L312P |
probably damaging |
Het |
| Tmem198 |
T |
C |
1: 75,461,014 (GRCm39) |
|
probably benign |
Het |
| Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
| Treml4 |
T |
C |
17: 48,572,023 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,786,933 (GRCm39) |
D503G |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,775,617 (GRCm39) |
E1854D |
unknown |
Het |
| Ubqln3 |
A |
T |
7: 103,791,403 (GRCm39) |
M229K |
possibly damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,539,457 (GRCm39) |
T939A |
probably damaging |
Het |
|
| Other mutations in Adam1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01467:Adam1a
|
APN |
5 |
121,657,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-11-11 |
Incidental Mutation