Incidental Mutation 'R2343:Spata2'
| ID |
245891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata2
|
| Ensembl Gene |
ENSMUSG00000047030 |
| Gene Name |
spermatogenesis associated 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2343 (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 167325280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 513
(V513E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057627]
[ENSMUST00000109211]
|
| AlphaFold |
Q8K004 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057627
AA Change: V513E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057095
Gene: ENSMUSG00000047030
AA Change: V513E
| 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
|
| SMART Domains |
Protein: ENSMUSP00000104834
Gene: ENSMUSG00000047030
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcr |
T |
C |
10: 74,981,254 (GRCm39) |
I691T |
probably benign |
Het |
| Col20a1 |
A |
G |
2: 180,643,124 (GRCm39) |
T865A |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 50,023,745 (GRCm39) |
R1676H |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,735,355 (GRCm39) |
V1111A |
probably damaging |
Het |
| Eif3g |
T |
C |
9: 20,806,450 (GRCm39) |
Y213C |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 39,011,254 (GRCm39) |
S2118F |
probably damaging |
Het |
| Gpr85 |
A |
G |
6: 13,836,695 (GRCm39) |
S70P |
probably damaging |
Het |
| Krtap31-1 |
A |
C |
11: 99,798,847 (GRCm39) |
T17P |
possibly damaging |
Het |
| Lig1 |
A |
G |
7: 13,026,121 (GRCm39) |
|
probably null |
Het |
| Lman2l |
A |
T |
1: 36,467,190 (GRCm39) |
D269E |
possibly damaging |
Het |
| Mcc |
A |
G |
18: 44,592,864 (GRCm39) |
|
probably null |
Het |
| Nav2 |
T |
C |
7: 49,248,565 (GRCm39) |
F2302L |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or13p4 |
C |
A |
4: 118,547,384 (GRCm39) |
M88I |
probably benign |
Het |
| Or4k38 |
A |
G |
2: 111,166,045 (GRCm39) |
I126T |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,074,394 (GRCm39) |
F67L |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,612,597 (GRCm39) |
V448D |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,564,604 (GRCm39) |
K160R |
probably benign |
Het |
| Susd3 |
T |
A |
13: 49,392,335 (GRCm39) |
M107L |
probably damaging |
Het |
| Tnni3k |
A |
G |
3: 154,644,466 (GRCm39) |
I564T |
probably benign |
Het |
| Zfp971 |
A |
G |
2: 177,674,787 (GRCm39) |
K129E |
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 |
|
|
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 |
|
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'- TGGAATGTGACCTGCTACG -3'
(R):5'- TGGCACCTGTCCACTCAAAG -3'
Sequencing Primer
(F):5'- CTACGGGAGCCATGTGAC -3'
(R):5'- TCCCGCTGTGGCTTCTGTAAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation