Incidental Mutation 'IGL02413:Spata31f3'
ID |
292332 |
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 # |
IGL02413
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
42868004-42874234 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42868549 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 358
(D358G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060318
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055944]
[ENSMUST00000107978]
|
AlphaFold |
Q80YD3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055944
AA Change: D358G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000060318 Gene: ENSMUSG00000050141 AA Change: D358G
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 damaging
Transcript: ENSMUST00000107978
AA Change: D359G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103612 Gene: ENSMUSG00000050141 AA Change: D359G
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
C |
A |
16: 20,241,187 (GRCm39) |
|
probably benign |
Het |
Afap1l1 |
A |
G |
18: 61,866,860 (GRCm39) |
L733P |
probably benign |
Het |
Aqr |
G |
A |
2: 113,949,261 (GRCm39) |
A979V |
possibly damaging |
Het |
Axin1 |
A |
G |
17: 26,407,153 (GRCm39) |
E582G |
probably benign |
Het |
Catsper1 |
T |
C |
19: 5,386,264 (GRCm39) |
S166P |
possibly damaging |
Het |
Cd248 |
G |
T |
19: 5,120,201 (GRCm39) |
G683V |
probably damaging |
Het |
Celsr1 |
G |
T |
15: 85,915,427 (GRCm39) |
Q849K |
possibly damaging |
Het |
Ctnnal1 |
C |
A |
4: 56,835,306 (GRCm39) |
V324F |
probably benign |
Het |
Ctrc |
C |
A |
4: 141,571,028 (GRCm39) |
V71L |
possibly damaging |
Het |
Exoc3l |
C |
A |
8: 106,019,070 (GRCm39) |
D465Y |
probably damaging |
Het |
Flna |
T |
C |
X: 73,284,888 (GRCm39) |
E417G |
probably benign |
Het |
Grm6 |
T |
A |
11: 50,750,766 (GRCm39) |
V643D |
probably damaging |
Het |
Inpp4b |
A |
G |
8: 82,759,800 (GRCm39) |
Y615C |
probably benign |
Het |
Itga3 |
T |
C |
11: 94,959,597 (GRCm39) |
Y92C |
probably damaging |
Het |
Jak3 |
T |
C |
8: 72,138,763 (GRCm39) |
|
probably null |
Het |
Kcnh6 |
T |
A |
11: 105,918,460 (GRCm39) |
I823N |
possibly damaging |
Het |
Klhl38 |
A |
T |
15: 58,186,417 (GRCm39) |
V104D |
probably damaging |
Het |
Lpo |
C |
T |
11: 87,697,732 (GRCm39) |
V692M |
possibly damaging |
Het |
Mnd1 |
T |
C |
3: 84,023,786 (GRCm39) |
H100R |
probably benign |
Het |
Mterf4 |
A |
G |
1: 93,230,526 (GRCm39) |
F207L |
probably damaging |
Het |
Oog3 |
C |
A |
4: 143,884,721 (GRCm39) |
W405L |
probably benign |
Het |
Or2t26 |
T |
C |
11: 49,039,384 (GRCm39) |
L100P |
probably damaging |
Het |
Ptpn3 |
A |
G |
4: 57,205,020 (GRCm39) |
Y714H |
probably damaging |
Het |
Steap3 |
T |
C |
1: 120,169,502 (GRCm39) |
Y265C |
probably damaging |
Het |
Tcl1 |
C |
A |
12: 105,185,082 (GRCm39) |
E43* |
probably null |
Het |
Terb1 |
A |
G |
8: 105,221,500 (GRCm39) |
|
probably null |
Het |
Tmprss11a |
T |
A |
5: 86,570,507 (GRCm39) |
I151F |
possibly damaging |
Het |
Trappc10 |
T |
C |
10: 78,046,610 (GRCm39) |
R430G |
probably damaging |
Het |
Usp17le |
T |
C |
7: 104,418,933 (GRCm39) |
N70D |
probably benign |
Het |
Vmn1r45 |
T |
C |
6: 89,910,503 (GRCm39) |
S36G |
possibly damaging |
Het |
Vsig8 |
A |
C |
1: 172,387,943 (GRCm39) |
Y11S |
probably damaging |
Het |
Vwa5b2 |
T |
A |
16: 20,416,851 (GRCm39) |
L516Q |
probably damaging |
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 |
IGL01697:Spata31f3
|
APN |
4 |
42,874,163 (GRCm39) |
missense |
probably benign |
|
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 |
2015-04-16 |