Incidental Mutation 'R1023:Spata2'
ID |
94593 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata2
|
Ensembl Gene |
ENSMUSG00000047030 |
Gene Name |
spermatogenesis associated 2 |
Synonyms |
|
MMRRC Submission |
039125-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1023 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
167323053-167334804 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 167327142 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 85
(M85T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104834
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057627]
[ENSMUST00000109211]
|
AlphaFold |
Q8K004 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057627
AA Change: M85T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000057095 Gene: ENSMUSG00000047030 AA Change: M85T
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 benign
Transcript: ENSMUST00000109211
AA Change: M85T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000104834 Gene: ENSMUSG00000047030 AA Change: M85T
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
|
Meta Mutation Damage Score |
0.0851 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.7%
|
Validation Efficiency |
100% (42/42) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 137,772,632 (GRCm39) |
A607V |
probably damaging |
Het |
4930523C07Rik |
A |
G |
1: 159,905,057 (GRCm39) |
|
probably benign |
Het |
Ap3d1 |
A |
T |
10: 80,550,092 (GRCm39) |
L713Q |
probably damaging |
Het |
Baz2a |
A |
G |
10: 127,957,676 (GRCm39) |
T1010A |
possibly damaging |
Het |
Cdh15 |
T |
C |
8: 123,591,939 (GRCm39) |
I608T |
probably damaging |
Het |
Cdkl2 |
A |
T |
5: 92,187,145 (GRCm39) |
D40E |
possibly damaging |
Het |
Col9a2 |
G |
A |
4: 120,901,207 (GRCm39) |
G118R |
unknown |
Het |
Cryge |
C |
A |
1: 65,089,945 (GRCm39) |
C79F |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,878,799 (GRCm39) |
L596P |
probably damaging |
Het |
Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
Dync2i1 |
T |
C |
12: 116,196,277 (GRCm39) |
E490G |
probably damaging |
Het |
Enam |
A |
G |
5: 88,649,826 (GRCm39) |
Q445R |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
Gnpat |
A |
T |
8: 125,597,519 (GRCm39) |
D27V |
probably benign |
Het |
Htr5a |
A |
T |
5: 28,047,996 (GRCm39) |
T184S |
possibly damaging |
Het |
Lap3 |
C |
T |
5: 45,652,553 (GRCm39) |
P50S |
probably benign |
Het |
Mamdc2 |
A |
T |
19: 23,288,271 (GRCm39) |
M589K |
probably damaging |
Het |
Mast4 |
A |
G |
13: 102,872,004 (GRCm39) |
S2263P |
probably benign |
Het |
Mef2b |
C |
T |
8: 70,618,247 (GRCm39) |
P109L |
possibly damaging |
Het |
Meltf |
T |
A |
16: 31,703,778 (GRCm39) |
F168L |
probably damaging |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,211,641 (GRCm39) |
F1661I |
probably damaging |
Het |
Or11h4b |
A |
T |
14: 50,918,473 (GRCm39) |
L206H |
probably damaging |
Het |
Or5h19 |
A |
T |
16: 58,856,178 (GRCm39) |
N307K |
probably benign |
Het |
Plac8 |
A |
T |
5: 100,704,447 (GRCm39) |
D83E |
probably benign |
Het |
Pnpt1 |
T |
C |
11: 29,091,328 (GRCm39) |
|
probably benign |
Het |
Pold2 |
G |
T |
11: 5,825,140 (GRCm39) |
Q86K |
probably benign |
Het |
Ptprt |
A |
G |
2: 161,400,863 (GRCm39) |
L1057P |
probably damaging |
Het |
Rev3l |
A |
G |
10: 39,708,635 (GRCm39) |
H2284R |
probably damaging |
Het |
Scart1 |
T |
A |
7: 139,804,376 (GRCm39) |
C484S |
possibly damaging |
Het |
Skint6 |
A |
C |
4: 113,095,300 (GRCm39) |
S120A |
probably benign |
Het |
Slc1a7 |
G |
A |
4: 107,864,770 (GRCm39) |
V270M |
probably damaging |
Het |
Taf1b |
G |
T |
12: 24,559,558 (GRCm39) |
|
probably benign |
Het |
Tert |
A |
G |
13: 73,790,178 (GRCm39) |
N844S |
probably benign |
Het |
Thrap3 |
G |
A |
4: 126,073,882 (GRCm39) |
S288L |
possibly damaging |
Het |
Ubap2l |
A |
G |
3: 89,955,180 (GRCm39) |
|
probably benign |
Het |
Ubtf |
T |
C |
11: 102,202,276 (GRCm39) |
E197G |
possibly damaging |
Het |
Usp20 |
G |
T |
2: 30,897,825 (GRCm39) |
G216W |
probably damaging |
Het |
Yy1 |
T |
A |
12: 108,759,457 (GRCm39) |
V40E |
unknown |
Het |
Zfp335 |
G |
A |
2: 164,734,505 (GRCm39) |
H1254Y |
possibly damaging |
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 |
IGL01565:Spata2
|
APN |
2 |
167,326,214 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02661:Spata2
|
APN |
2 |
167,325,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R0402:Spata2
|
UTSW |
2 |
167,325,580 (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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAATGCACATGCCAGGATTCCAG -3'
(R):5'- TTCCATGAGGGCAAAGTGGACAC -3'
Sequencing Primer
(F):5'- GTGCAGAGAATCTTCTCTCAAGC -3'
(R):5'- GCAAAGTGGACACCACCC -3'
|
Posted On |
2014-01-05 |