Incidental Mutation 'IGL01697:Spata31f3'
ID |
104302 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spata31f3
|
Ensembl Gene |
ENSMUSG00000050141 |
Gene Name |
spermatogenesis associated 31 subfamily F member 3 |
Synonyms |
BC049635, Fam205c |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL01697
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
42868004-42874234 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 42874163 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 2
(M2L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103612
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055944]
[ENSMUST00000107978]
|
AlphaFold |
Q80YD3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055944
AA Change: M2L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000060318 Gene: ENSMUSG00000050141 AA Change: M2L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:DUF4599
|
51 |
139 |
2.7e-31 |
PFAM |
internal_repeat_1
|
147 |
168 |
5.83e-10 |
PROSPERO |
internal_repeat_1
|
180 |
201 |
5.83e-10 |
PROSPERO |
low complexity region
|
278 |
289 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107978
AA Change: M2L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103612 Gene: ENSMUSG00000050141 AA Change: M2L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:DUF4599
|
52 |
138 |
3.4e-28 |
PFAM |
internal_repeat_1
|
147 |
168 |
5.79e-10 |
PROSPERO |
internal_repeat_1
|
180 |
201 |
5.79e-10 |
PROSPERO |
low complexity region
|
278 |
289 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134400
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144112
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430015G10Rik |
T |
A |
4: 156,203,613 (GRCm39) |
|
probably benign |
Het |
Arid2 |
A |
C |
15: 96,259,453 (GRCm39) |
|
probably null |
Het |
Cadm1 |
C |
A |
9: 47,761,622 (GRCm39) |
D435E |
probably damaging |
Het |
Dagla |
A |
G |
19: 10,248,562 (GRCm39) |
F33L |
probably benign |
Het |
Edrf1 |
A |
G |
7: 133,245,459 (GRCm39) |
H199R |
probably benign |
Het |
F5 |
T |
A |
1: 164,021,621 (GRCm39) |
N1365K |
probably benign |
Het |
Gipc2 |
T |
G |
3: 151,843,245 (GRCm39) |
I131L |
probably benign |
Het |
Gpc1 |
C |
T |
1: 92,786,132 (GRCm39) |
S507F |
possibly damaging |
Het |
Grid1 |
A |
G |
14: 35,031,214 (GRCm39) |
D269G |
probably benign |
Het |
Ighv12-3 |
A |
T |
12: 114,330,573 (GRCm39) |
M1K |
probably null |
Het |
Kif5b |
T |
C |
18: 6,226,871 (GRCm39) |
H129R |
possibly damaging |
Het |
Lipo3 |
A |
T |
19: 33,536,965 (GRCm39) |
C252S |
probably damaging |
Het |
Mast4 |
A |
C |
13: 102,904,401 (GRCm39) |
N645K |
probably damaging |
Het |
Megf9 |
T |
A |
4: 70,351,709 (GRCm39) |
T471S |
possibly damaging |
Het |
Mmrn1 |
A |
G |
6: 60,953,477 (GRCm39) |
D586G |
possibly damaging |
Het |
Ninl |
A |
T |
2: 150,781,867 (GRCm39) |
L1206Q |
probably damaging |
Het |
Oog2 |
T |
A |
4: 143,921,754 (GRCm39) |
N221K |
possibly damaging |
Het |
Or13a17 |
T |
C |
7: 140,271,565 (GRCm39) |
V249A |
possibly damaging |
Het |
Or5b96 |
T |
A |
19: 12,867,831 (GRCm39) |
T37S |
probably benign |
Het |
Or6c8b |
C |
A |
10: 128,882,371 (GRCm39) |
C187F |
probably damaging |
Het |
Pik3ap1 |
G |
A |
19: 41,313,018 (GRCm39) |
A365V |
probably damaging |
Het |
Ppwd1 |
T |
C |
13: 104,356,972 (GRCm39) |
E181G |
probably benign |
Het |
Scaf11 |
A |
C |
15: 96,321,504 (GRCm39) |
|
probably benign |
Het |
Skic3 |
C |
T |
13: 76,276,852 (GRCm39) |
L479F |
probably benign |
Het |
Skint7 |
T |
A |
4: 111,837,654 (GRCm39) |
|
probably benign |
Het |
Sox14 |
T |
C |
9: 99,757,716 (GRCm39) |
I8V |
probably benign |
Het |
Stim1 |
A |
T |
7: 102,075,176 (GRCm39) |
|
probably benign |
Het |
Ttll3 |
T |
C |
6: 113,376,690 (GRCm39) |
S357P |
probably benign |
Het |
Vmn1r178 |
T |
A |
7: 23,593,114 (GRCm39) |
I54N |
probably damaging |
Het |
Zdhhc2 |
T |
C |
8: 40,920,460 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Spata31f3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01548:Spata31f3
|
APN |
4 |
42,868,564 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02413:Spata31f3
|
APN |
4 |
42,868,549 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02450:Spata31f3
|
APN |
4 |
42,874,127 (GRCm39) |
missense |
probably benign |
|
R0433:Spata31f3
|
UTSW |
4 |
42,874,013 (GRCm39) |
splice site |
probably benign |
|
R1580:Spata31f3
|
UTSW |
4 |
42,874,020 (GRCm39) |
splice site |
probably null |
|
R2042:Spata31f3
|
UTSW |
4 |
42,874,030 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2102:Spata31f3
|
UTSW |
4 |
42,868,558 (GRCm39) |
missense |
probably benign |
0.00 |
R3824:Spata31f3
|
UTSW |
4 |
42,873,492 (GRCm39) |
critical splice donor site |
probably null |
|
R4192:Spata31f3
|
UTSW |
4 |
42,874,185 (GRCm39) |
utr 5 prime |
probably benign |
|
R4668:Spata31f3
|
UTSW |
4 |
42,871,608 (GRCm39) |
missense |
probably benign |
0.00 |
R4690:Spata31f3
|
UTSW |
4 |
42,873,032 (GRCm39) |
splice site |
probably null |
|
R5743:Spata31f3
|
UTSW |
4 |
42,873,087 (GRCm39) |
missense |
probably damaging |
0.99 |
R5868:Spata31f3
|
UTSW |
4 |
42,871,711 (GRCm39) |
missense |
probably damaging |
0.96 |
R6186:Spata31f3
|
UTSW |
4 |
42,872,000 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6778:Spata31f3
|
UTSW |
4 |
42,868,522 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6986:Spata31f3
|
UTSW |
4 |
42,868,696 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7318:Spata31f3
|
UTSW |
4 |
42,871,823 (GRCm39) |
small deletion |
probably benign |
|
R7413:Spata31f3
|
UTSW |
4 |
42,871,823 (GRCm39) |
small deletion |
probably benign |
|
R7675:Spata31f3
|
UTSW |
4 |
42,871,823 (GRCm39) |
small deletion |
probably benign |
|
R7785:Spata31f3
|
UTSW |
4 |
42,871,823 (GRCm39) |
small deletion |
probably benign |
|
R7842:Spata31f3
|
UTSW |
4 |
42,871,823 (GRCm39) |
small deletion |
probably benign |
|
R8125:Spata31f3
|
UTSW |
4 |
42,873,051 (GRCm39) |
missense |
probably damaging |
0.99 |
R8808:Spata31f3
|
UTSW |
4 |
42,871,823 (GRCm39) |
small deletion |
probably benign |
|
R8954:Spata31f3
|
UTSW |
4 |
42,871,753 (GRCm39) |
missense |
probably damaging |
0.98 |
R9343:Spata31f3
|
UTSW |
4 |
42,871,823 (GRCm39) |
small deletion |
probably benign |
|
R9620:Spata31f3
|
UTSW |
4 |
42,871,823 (GRCm39) |
small deletion |
probably benign |
|
RF040:Spata31f3
|
UTSW |
4 |
42,871,823 (GRCm39) |
small deletion |
probably benign |
|
X0052:Spata31f3
|
UTSW |
4 |
42,874,047 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Posted On |
2014-01-21 |