Incidental Mutation 'R5476:Spata2'
ID |
434069 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata2
|
Ensembl Gene |
ENSMUSG00000047030 |
Gene Name |
spermatogenesis associated 2 |
Synonyms |
|
MMRRC Submission |
043037-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5476 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
167323053-167334804 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 167326079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 247
(S247T)
|
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: S247T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000057095 Gene: ENSMUSG00000047030 AA Change: S247T
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: S247T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000104834 Gene: ENSMUSG00000047030 AA Change: S247T
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 |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.8%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh16a1 |
T |
G |
7: 44,791,493 (GRCm39) |
N71H |
possibly damaging |
Het |
Alg5 |
T |
A |
3: 54,654,019 (GRCm39) |
S252T |
probably benign |
Het |
Arhgap21 |
T |
C |
2: 20,885,497 (GRCm39) |
N560S |
probably benign |
Het |
Ccdc96 |
A |
G |
5: 36,642,981 (GRCm39) |
D329G |
possibly damaging |
Het |
Cep128 |
T |
C |
12: 91,180,392 (GRCm39) |
E917G |
probably damaging |
Het |
Cpox |
G |
C |
16: 58,499,088 (GRCm39) |
V434L |
probably damaging |
Het |
D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
Ddx6 |
A |
G |
9: 44,518,753 (GRCm39) |
R22G |
possibly damaging |
Het |
Dgcr8 |
A |
T |
16: 18,077,843 (GRCm39) |
Y597N |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dock5 |
T |
C |
14: 68,051,456 (GRCm39) |
D671G |
possibly damaging |
Het |
Dock6 |
A |
G |
9: 21,720,885 (GRCm39) |
S1707P |
probably damaging |
Het |
Dop1b |
A |
G |
16: 93,570,801 (GRCm39) |
|
probably null |
Het |
Faim |
A |
G |
9: 98,874,782 (GRCm39) |
R110G |
probably damaging |
Het |
Grm4 |
A |
G |
17: 27,653,772 (GRCm39) |
V726A |
probably benign |
Het |
Hps1 |
T |
C |
19: 42,758,041 (GRCm39) |
|
probably null |
Het |
Lefty1 |
T |
C |
1: 180,765,263 (GRCm39) |
M277T |
probably benign |
Het |
Mmp9 |
A |
G |
2: 164,794,414 (GRCm39) |
M469V |
probably benign |
Het |
Mroh4 |
A |
T |
15: 74,483,510 (GRCm39) |
I609N |
probably benign |
Het |
Myl6b |
C |
T |
10: 128,333,216 (GRCm39) |
|
probably benign |
Het |
Nt5m |
A |
G |
11: 59,766,733 (GRCm39) |
D208G |
probably damaging |
Het |
Pard3b |
G |
T |
1: 62,049,565 (GRCm39) |
V108L |
probably benign |
Het |
Pbp2 |
A |
G |
6: 135,286,922 (GRCm39) |
S142P |
probably benign |
Het |
Pbrm1 |
T |
A |
14: 30,754,476 (GRCm39) |
D165E |
probably benign |
Het |
Pde4b |
A |
G |
4: 102,459,896 (GRCm39) |
K577R |
probably benign |
Het |
Phf21b |
A |
G |
15: 84,671,466 (GRCm39) |
M476T |
probably benign |
Het |
Prr14l |
T |
C |
5: 33,001,482 (GRCm39) |
|
probably benign |
Het |
Ralgapa2 |
A |
G |
2: 146,289,356 (GRCm39) |
V282A |
probably benign |
Het |
Rif1 |
A |
G |
2: 51,979,607 (GRCm39) |
I430V |
probably damaging |
Het |
Slc25a12 |
A |
G |
2: 71,105,666 (GRCm39) |
S623P |
probably benign |
Het |
Smc1b |
A |
T |
15: 84,970,352 (GRCm39) |
I967N |
probably damaging |
Het |
Snx13 |
A |
G |
12: 35,156,819 (GRCm39) |
|
probably null |
Het |
Stpg2 |
T |
A |
3: 138,948,899 (GRCm39) |
Y232N |
probably benign |
Het |
Tor3a |
G |
T |
1: 156,501,137 (GRCm39) |
S100R |
possibly damaging |
Het |
Trappc8 |
A |
G |
18: 20,998,165 (GRCm39) |
F385S |
probably damaging |
Het |
Uggt2 |
T |
A |
14: 119,328,121 (GRCm39) |
T134S |
probably benign |
Het |
Vmn1r175 |
C |
T |
7: 23,508,556 (GRCm39) |
V24I |
possibly damaging |
Het |
Wdr1 |
C |
T |
5: 38,686,931 (GRCm39) |
G278S |
probably damaging |
Het |
Zfp157 |
T |
G |
5: 138,455,443 (GRCm39) |
V547G |
possibly damaging |
Het |
Zfp442 |
A |
T |
2: 150,250,079 (GRCm39) |
C551S |
probably 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 |
|
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 |
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'- AAGGTCATCAGGGCTACCATGG -3'
(R):5'- TTGAGCTCTTCCTGGCCAAG -3'
Sequencing Primer
(F):5'- GGGGGAGCTGGACATGGC -3'
(R):5'- ATCCACTCGCAGGTGAAGGAC -3'
|
Posted On |
2016-10-06 |