Incidental Mutation 'R6401:Spata22'
| ID |
516170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata22
|
| Ensembl Gene |
ENSMUSG00000112920 |
| Gene Name |
spermatogenesis associated 22 |
| Synonyms |
LOC380709 |
| MMRRC Submission |
044548-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6401 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
73220567-73236870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73224180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 34
(S34P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113799
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092926]
[ENSMUST00000117445]
[ENSMUST00000184572]
|
| AlphaFold |
Q5SV06 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092926
AA Change: S34P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117445
AA Change: S34P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184572
|
| SMART Domains |
Protein: ENSMUSP00000139318
Gene: ENSMUSG00000020774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AstE_AspA
|
9 |
300 |
4.5e-71 |
PFAM |
|
| Meta Mutation Damage Score |
0.1283 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
93% (41/44) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit male and female infertility associated with arrested meiosis in germ cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano3 |
T |
A |
2: 110,605,459 (GRCm39) |
N249I |
probably benign |
Het |
| Ap3s1 |
A |
C |
18: 46,891,074 (GRCm39) |
I56L |
probably benign |
Het |
| Ccn5 |
T |
C |
2: 163,670,946 (GRCm39) |
I151T |
probably benign |
Het |
| Cngb1 |
A |
G |
8: 96,030,367 (GRCm39) |
|
probably benign |
Het |
| Col2a1 |
T |
C |
15: 97,883,773 (GRCm39) |
T570A |
unknown |
Het |
| Cyp3a16 |
T |
C |
5: 145,377,174 (GRCm39) |
E471G |
probably damaging |
Het |
| D930020B18Rik |
A |
G |
10: 121,477,762 (GRCm39) |
N14D |
possibly damaging |
Het |
| Ext1 |
T |
C |
15: 52,969,493 (GRCm39) |
E365G |
possibly damaging |
Het |
| Fbn1 |
C |
A |
2: 125,188,370 (GRCm39) |
V1490F |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gm5431 |
T |
A |
11: 48,779,536 (GRCm39) |
N740I |
probably benign |
Het |
| Ifi209 |
T |
C |
1: 173,472,269 (GRCm39) |
M370T |
probably damaging |
Het |
| Ighv2-4 |
G |
T |
12: 113,617,082 (GRCm39) |
P60Q |
probably damaging |
Het |
| Kif19b |
A |
T |
5: 140,442,698 (GRCm39) |
T80S |
possibly damaging |
Het |
| Ldb3 |
A |
T |
14: 34,299,291 (GRCm39) |
L111Q |
probably benign |
Het |
| Mcmbp |
G |
T |
7: 128,308,783 (GRCm39) |
L413I |
possibly damaging |
Het |
| Mib1 |
T |
A |
18: 10,795,802 (GRCm39) |
M721K |
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,584,809 (GRCm39) |
T738A |
probably benign |
Het |
| Notch3 |
T |
A |
17: 32,377,597 (GRCm39) |
I160L |
probably benign |
Het |
| Nrxn3 |
C |
A |
12: 89,221,770 (GRCm39) |
N516K |
possibly damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,878,250 (GRCm39) |
Y496H |
probably benign |
Het |
| Or13f5 |
A |
C |
4: 52,826,242 (GRCm39) |
T282P |
probably damaging |
Het |
| Or1n1 |
A |
T |
2: 36,750,177 (GRCm39) |
L61* |
probably null |
Het |
| Or5b111 |
T |
C |
19: 13,290,878 (GRCm39) |
Y257C |
probably damaging |
Het |
| Polm |
A |
T |
11: 5,779,491 (GRCm39) |
W436R |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,256,951 (GRCm39) |
I1221N |
probably benign |
Het |
| Rfpl4b |
T |
C |
10: 38,696,941 (GRCm39) |
H220R |
possibly damaging |
Het |
| Rgs12 |
T |
C |
5: 35,177,676 (GRCm39) |
F79L |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,966,595 (GRCm39) |
D111G |
probably benign |
Het |
| Smg7 |
A |
G |
1: 152,715,887 (GRCm39) |
|
probably null |
Het |
| St7 |
T |
A |
6: 17,855,317 (GRCm39) |
|
probably null |
Het |
| Stk31 |
A |
G |
6: 49,400,372 (GRCm39) |
E399G |
probably damaging |
Het |
| Tcp10b |
C |
A |
17: 13,292,466 (GRCm39) |
N296K |
probably damaging |
Het |
| Tonsl |
T |
C |
15: 76,517,866 (GRCm39) |
Y645C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,800,206 (GRCm39) |
M334K |
probably benign |
Het |
| Vcpkmt |
C |
A |
12: 69,629,619 (GRCm39) |
V48F |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,532 (GRCm39) |
Y403* |
probably null |
Het |
| Vwa7 |
G |
A |
17: 35,236,286 (GRCm39) |
|
probably null |
Het |
| Wscd2 |
A |
T |
5: 113,726,206 (GRCm39) |
*572C |
probably null |
Het |
| Xpo7 |
A |
G |
14: 70,919,787 (GRCm39) |
L676P |
probably damaging |
Het |
| Zbtb32 |
A |
C |
7: 30,291,244 (GRCm39) |
L17W |
probably damaging |
Het |
|
| Other mutations in Spata22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02016:Spata22
|
APN |
11 |
73,226,857 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02833:Spata22
|
APN |
11 |
73,234,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0147:Spata22
|
UTSW |
11 |
73,221,979 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R0304:Spata22
|
UTSW |
11 |
73,231,275 (GRCm39) |
nonsense |
probably null |
|
|
R1855:Spata22
|
UTSW |
11 |
73,231,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1967:Spata22
|
UTSW |
11 |
73,221,953 (GRCm39) |
unclassified |
probably benign |
|
|
R2073:Spata22
|
UTSW |
11 |
73,227,052 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2087:Spata22
|
UTSW |
11 |
73,231,079 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2196:Spata22
|
UTSW |
11 |
73,236,660 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2256:Spata22
|
UTSW |
11 |
73,231,301 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2509:Spata22
|
UTSW |
11 |
73,236,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2849:Spata22
|
UTSW |
11 |
73,244,571 (GRCm39) |
nonsense |
probably null |
|
|
R2883:Spata22
|
UTSW |
11 |
73,235,504 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R3236:Spata22
|
UTSW |
11 |
73,236,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3237:Spata22
|
UTSW |
11 |
73,236,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4560:Spata22
|
UTSW |
11 |
73,236,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4755:Spata22
|
UTSW |
11 |
73,236,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5171:Spata22
|
UTSW |
11 |
73,227,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5893:Spata22
|
UTSW |
11 |
73,227,073 (GRCm39) |
nonsense |
probably null |
|
|
R6493:Spata22
|
UTSW |
11 |
73,244,572 (GRCm39) |
makesense |
probably null |
|
|
R6496:Spata22
|
UTSW |
11 |
73,231,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6647:Spata22
|
UTSW |
11 |
73,245,526 (GRCm39) |
splice site |
probably null |
|
|
R6838:Spata22
|
UTSW |
11 |
73,236,759 (GRCm39) |
missense |
probably benign |
|
|
R7099:Spata22
|
UTSW |
11 |
73,231,225 (GRCm39) |
missense |
probably benign |
|
|
R7396:Spata22
|
UTSW |
11 |
73,236,702 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7453:Spata22
|
UTSW |
11 |
73,226,816 (GRCm39) |
splice site |
probably null |
|
|
R7748:Spata22
|
UTSW |
11 |
73,227,080 (GRCm39) |
missense |
probably null |
0.99 |
|
R8870:Spata22
|
UTSW |
11 |
73,231,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGGGCTTCCAAAAGTTTGC -3'
(R):5'- TCTGGGCAGTGAAAAGCAGC -3'
Sequencing Primer
(F):5'- AGTTTGCAAAAATTATTTCAAGGGC -3'
(R):5'- CAGGGACATTCTGCAGTGAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation