Incidental Mutation 'IGL02610:Spata31e4'
ID |
300454 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spata31e4
|
Ensembl Gene |
ENSMUSG00000094918 |
Gene Name |
spermatogenesis associated 31 subfamily E member 4 |
Synonyms |
Gm8765 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
IGL02610
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
50852348-50857471 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 50855748 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 462
(V462A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099518]
|
AlphaFold |
B7ZWJ3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099518
AA Change: V462A
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000097118 Gene: ENSMUSG00000094918 AA Change: V462A
Domain | Start | End | E-Value | Type |
low complexity region
|
69 |
82 |
N/A |
INTRINSIC |
Pfam:FAM75
|
95 |
418 |
1.1e-15 |
PFAM |
SCOP:d1i5pa1
|
811 |
874 |
9e-3 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
Ccdc93 |
T |
G |
1: 121,420,700 (GRCm39) |
V527G |
probably benign |
Het |
Ctcfl |
C |
A |
2: 172,947,819 (GRCm39) |
|
probably benign |
Het |
Dmd |
T |
C |
X: 82,707,762 (GRCm39) |
S359P |
probably damaging |
Het |
Drc3 |
T |
C |
11: 60,261,419 (GRCm39) |
F190S |
probably benign |
Het |
Dync1h1 |
A |
T |
12: 110,625,666 (GRCm39) |
K3943* |
probably null |
Het |
Dzip3 |
A |
G |
16: 48,772,016 (GRCm39) |
V551A |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,485,723 (GRCm39) |
L237M |
unknown |
Het |
Gab1 |
A |
G |
8: 81,526,728 (GRCm39) |
|
probably null |
Het |
Gm6430 |
G |
A |
1: 96,952,560 (GRCm39) |
|
noncoding transcript |
Het |
Ighv16-1 |
A |
T |
12: 114,032,733 (GRCm39) |
V23E |
probably damaging |
Het |
Ikbkb |
T |
A |
8: 23,165,088 (GRCm39) |
|
probably null |
Het |
Ncr1 |
A |
T |
7: 4,341,132 (GRCm39) |
N41I |
probably benign |
Het |
Nfkbib |
T |
C |
7: 28,459,274 (GRCm39) |
D319G |
probably damaging |
Het |
Nkain3 |
T |
C |
4: 20,469,459 (GRCm39) |
E85G |
probably damaging |
Het |
Or51h1 |
G |
A |
7: 102,308,774 (GRCm39) |
V249M |
probably benign |
Het |
Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
Ppp2r2b |
A |
G |
18: 42,781,840 (GRCm39) |
|
probably benign |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Rhod |
A |
G |
19: 4,476,203 (GRCm39) |
F183L |
probably damaging |
Het |
Slc35f3 |
A |
T |
8: 127,047,956 (GRCm39) |
T99S |
probably damaging |
Het |
Spock3 |
A |
G |
8: 63,798,771 (GRCm39) |
Y264C |
probably damaging |
Het |
Trnt1 |
T |
C |
6: 106,755,779 (GRCm39) |
F278S |
possibly damaging |
Het |
Ush2a |
T |
A |
1: 188,176,663 (GRCm39) |
Y1276N |
probably damaging |
Het |
Veph1 |
A |
G |
3: 66,079,588 (GRCm39) |
L309P |
probably damaging |
Het |
Vmn1r7 |
G |
T |
6: 57,002,037 (GRCm39) |
F74L |
probably benign |
Het |
Vsnl1 |
C |
T |
12: 11,382,072 (GRCm39) |
W103* |
probably null |
Het |
|
Other mutations in Spata31e4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01548:Spata31e4
|
APN |
13 |
50,854,414 (GRCm39) |
missense |
probably benign |
0.18 |
IGL02452:Spata31e4
|
APN |
13 |
50,857,113 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03171:Spata31e4
|
APN |
13 |
50,856,388 (GRCm39) |
missense |
probably benign |
0.23 |
IGL03369:Spata31e4
|
APN |
13 |
50,857,200 (GRCm39) |
missense |
possibly damaging |
0.74 |
PIT4382001:Spata31e4
|
UTSW |
13 |
50,855,007 (GRCm39) |
missense |
probably damaging |
0.99 |
R0346:Spata31e4
|
UTSW |
13 |
50,857,346 (GRCm39) |
missense |
probably benign |
0.12 |
R1015:Spata31e4
|
UTSW |
13 |
50,855,664 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1054:Spata31e4
|
UTSW |
13 |
50,856,432 (GRCm39) |
missense |
probably benign |
0.01 |
R1102:Spata31e4
|
UTSW |
13 |
50,857,118 (GRCm39) |
missense |
probably benign |
0.00 |
R1519:Spata31e4
|
UTSW |
13 |
50,854,443 (GRCm39) |
critical splice donor site |
probably null |
|
R1628:Spata31e4
|
UTSW |
13 |
50,856,324 (GRCm39) |
missense |
probably benign |
0.25 |
R1754:Spata31e4
|
UTSW |
13 |
50,855,123 (GRCm39) |
missense |
probably damaging |
0.98 |
R4212:Spata31e4
|
UTSW |
13 |
50,854,388 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4672:Spata31e4
|
UTSW |
13 |
50,857,208 (GRCm39) |
missense |
probably benign |
|
R4780:Spata31e4
|
UTSW |
13 |
50,855,116 (GRCm39) |
missense |
probably damaging |
0.97 |
R4794:Spata31e4
|
UTSW |
13 |
50,857,275 (GRCm39) |
missense |
probably benign |
0.07 |
R5171:Spata31e4
|
UTSW |
13 |
50,854,414 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6240:Spata31e4
|
UTSW |
13 |
50,855,453 (GRCm39) |
missense |
probably damaging |
0.97 |
R6366:Spata31e4
|
UTSW |
13 |
50,855,972 (GRCm39) |
missense |
probably benign |
0.01 |
R6421:Spata31e4
|
UTSW |
13 |
50,855,987 (GRCm39) |
missense |
probably benign |
0.35 |
R6644:Spata31e4
|
UTSW |
13 |
50,856,071 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6678:Spata31e4
|
UTSW |
13 |
50,855,946 (GRCm39) |
missense |
probably benign |
0.14 |
R6788:Spata31e4
|
UTSW |
13 |
50,857,131 (GRCm39) |
missense |
probably damaging |
0.99 |
R7030:Spata31e4
|
UTSW |
13 |
50,857,019 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7513:Spata31e4
|
UTSW |
13 |
50,856,909 (GRCm39) |
missense |
probably benign |
0.01 |
R7681:Spata31e4
|
UTSW |
13 |
50,856,290 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7753:Spata31e4
|
UTSW |
13 |
50,855,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R7794:Spata31e4
|
UTSW |
13 |
50,856,344 (GRCm39) |
missense |
probably damaging |
0.98 |
R7994:Spata31e4
|
UTSW |
13 |
50,856,900 (GRCm39) |
missense |
probably benign |
0.04 |
R8021:Spata31e4
|
UTSW |
13 |
50,855,130 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8858:Spata31e4
|
UTSW |
13 |
50,855,423 (GRCm39) |
missense |
probably benign |
0.07 |
R9027:Spata31e4
|
UTSW |
13 |
50,857,007 (GRCm39) |
nonsense |
probably null |
|
R9037:Spata31e4
|
UTSW |
13 |
50,856,944 (GRCm39) |
missense |
probably benign |
0.09 |
R9047:Spata31e4
|
UTSW |
13 |
50,856,128 (GRCm39) |
nonsense |
probably null |
|
R9065:Spata31e4
|
UTSW |
13 |
50,856,276 (GRCm39) |
missense |
probably benign |
0.01 |
R9476:Spata31e4
|
UTSW |
13 |
50,856,149 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9495:Spata31e4
|
UTSW |
13 |
50,855,465 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9510:Spata31e4
|
UTSW |
13 |
50,856,149 (GRCm39) |
missense |
possibly damaging |
0.70 |
Z1177:Spata31e4
|
UTSW |
13 |
50,856,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |