Incidental Mutation 'IGL01565:Spata2'
| ID |
90967 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spata2
|
| Ensembl Gene |
ENSMUSG00000047030 |
| Gene Name |
spermatogenesis associated 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01565
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
167323053-167334804 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 167326214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 202
(S202P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057627]
[ENSMUST00000109211]
|
| AlphaFold |
Q8K004 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057627
AA Change: S202P
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000057095
Gene: ENSMUSG00000047030
AA Change: S202P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
299 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
412 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109211
AA Change: S202P
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104834
Gene: ENSMUSG00000047030
AA Change: S202P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
299 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
318 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147051
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154770
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155875
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous knockout leads to small testes, oligospermia, asthenozoospermia, reduced male fertility and decreased male germ cell numbers. It also affects necroptosis and increases inflammatory responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
G |
10: 100,439,222 (GRCm39) |
T36A |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,592,101 (GRCm39) |
M796V |
probably damaging |
Het |
| Brpf1 |
A |
T |
6: 113,293,611 (GRCm39) |
Q560L |
probably damaging |
Het |
| Dbil5 |
T |
G |
11: 76,109,091 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,924,655 (GRCm39) |
K2200E |
possibly damaging |
Het |
| Gtf2i |
T |
C |
5: 134,284,767 (GRCm39) |
I471V |
probably damaging |
Het |
| Has3 |
T |
A |
8: 107,601,077 (GRCm39) |
W180R |
probably benign |
Het |
| Lrfn1 |
T |
C |
7: 28,158,194 (GRCm39) |
C38R |
probably damaging |
Het |
| Lrsam1 |
C |
T |
2: 32,826,507 (GRCm39) |
A455T |
probably damaging |
Het |
| Mettl2 |
C |
A |
11: 105,017,364 (GRCm39) |
D14E |
probably benign |
Het |
| Mocs1 |
G |
A |
17: 49,759,348 (GRCm39) |
R364Q |
probably benign |
Het |
| Ndst2 |
A |
T |
14: 20,778,274 (GRCm39) |
V435E |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,207,306 (GRCm39) |
|
probably benign |
Het |
| Pigr |
A |
C |
1: 130,772,211 (GRCm39) |
D143A |
possibly damaging |
Het |
| Polq |
A |
C |
16: 36,833,475 (GRCm39) |
N56T |
probably benign |
Het |
| Prmt7 |
T |
G |
8: 106,977,041 (GRCm39) |
D584E |
probably damaging |
Het |
| R3hdm1 |
A |
T |
1: 128,114,553 (GRCm39) |
Q511H |
probably damaging |
Het |
| Rbm33 |
T |
C |
5: 28,596,077 (GRCm39) |
|
probably benign |
Het |
| Rdh19 |
T |
G |
10: 127,695,464 (GRCm39) |
M226R |
probably benign |
Het |
| Rock2 |
G |
A |
12: 17,003,318 (GRCm39) |
D386N |
possibly damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,352,275 (GRCm39) |
T96A |
possibly damaging |
Het |
| Swsap1 |
T |
A |
9: 21,868,524 (GRCm39) |
D265E |
possibly damaging |
Het |
| Tdrd3 |
A |
T |
14: 87,709,668 (GRCm39) |
I117L |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,344,296 (GRCm39) |
D1387G |
probably benign |
Het |
| Tnfaip6 |
A |
G |
2: 51,945,846 (GRCm39) |
S231G |
probably damaging |
Het |
| Trim50 |
T |
A |
5: 135,396,355 (GRCm39) |
D434E |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,433,240 (GRCm39) |
Y105C |
probably damaging |
Het |
| Usp50 |
G |
T |
2: 126,619,888 (GRCm39) |
C141* |
probably null |
Het |
| Zfp647 |
A |
T |
15: 76,795,870 (GRCm39) |
C263* |
probably null |
Het |
|
| Other mutations in Spata2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01538:Spata2
|
APN |
2 |
167,326,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02661:Spata2
|
APN |
2 |
167,325,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0402:Spata2
|
UTSW |
2 |
167,325,580 (GRCm39) |
missense |
probably benign |
|
|
R1023:Spata2
|
UTSW |
2 |
167,327,142 (GRCm39) |
missense |
probably benign |
|
|
R1672:Spata2
|
UTSW |
2 |
167,325,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1989:Spata2
|
UTSW |
2 |
167,326,234 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2343:Spata2
|
UTSW |
2 |
167,325,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2422:Spata2
|
UTSW |
2 |
167,326,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5156:Spata2
|
UTSW |
2 |
167,325,494 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5476:Spata2
|
UTSW |
2 |
167,326,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6326:Spata2
|
UTSW |
2 |
167,326,094 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7038:Spata2
|
UTSW |
2 |
167,327,283 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7954:Spata2
|
UTSW |
2 |
167,325,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8557:Spata2
|
UTSW |
2 |
167,326,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9459:Spata2
|
UTSW |
2 |
167,327,205 (GRCm39) |
missense |
probably benign |
0.35 |
|
X0024:Spata2
|
UTSW |
2 |
167,326,366 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Z1177:Spata2
|
UTSW |
2 |
167,325,503 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Spata2
|
UTSW |
2 |
167,325,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation