Incidental Mutation 'IGL02450:Spata31f3'
ID |
294126 |
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 # |
IGL02450
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
42868004-42874234 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 42874127 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 14
(S14P)
|
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: S14P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000060318 Gene: ENSMUSG00000050141 AA Change: S14P
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: S14P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103612 Gene: ENSMUSG00000050141 AA Change: S14P
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco2 |
A |
G |
15: 81,798,963 (GRCm39) |
*781W |
probably null |
Het |
Adamts16 |
C |
A |
13: 70,984,419 (GRCm39) |
R81S |
probably damaging |
Het |
Aldh1l1 |
A |
G |
6: 90,546,855 (GRCm39) |
D386G |
probably benign |
Het |
Anxa6 |
G |
A |
11: 54,885,767 (GRCm39) |
R393W |
probably damaging |
Het |
Bdnf |
G |
A |
2: 109,553,949 (GRCm39) |
V108I |
possibly damaging |
Het |
Bpgm |
C |
T |
6: 34,464,399 (GRCm39) |
R39W |
probably damaging |
Het |
Cd101 |
T |
C |
3: 100,901,054 (GRCm39) |
E1006G |
probably damaging |
Het |
Cd109 |
A |
T |
9: 78,603,132 (GRCm39) |
E972V |
possibly damaging |
Het |
Cdhr3 |
T |
A |
12: 33,132,224 (GRCm39) |
Q133L |
probably benign |
Het |
Cdk5r1 |
C |
T |
11: 80,368,666 (GRCm39) |
A111V |
probably benign |
Het |
Cnga4 |
A |
T |
7: 105,054,955 (GRCm39) |
I77F |
probably damaging |
Het |
Egfem1 |
G |
A |
3: 29,711,417 (GRCm39) |
|
probably null |
Het |
Fbxl21 |
T |
A |
13: 56,674,766 (GRCm39) |
V39D |
possibly damaging |
Het |
Gimap6 |
T |
C |
6: 48,681,351 (GRCm39) |
I94M |
probably benign |
Het |
Glis1 |
T |
C |
4: 107,484,726 (GRCm39) |
V407A |
probably benign |
Het |
Gm5784 |
C |
T |
12: 19,437,970 (GRCm39) |
|
noncoding transcript |
Het |
Gm9839 |
A |
T |
1: 32,559,964 (GRCm39) |
|
probably benign |
Het |
Heatr5a |
T |
A |
12: 51,992,213 (GRCm39) |
M566L |
probably benign |
Het |
Jph1 |
G |
A |
1: 17,074,201 (GRCm39) |
P606S |
possibly damaging |
Het |
Jup |
C |
T |
11: 100,269,183 (GRCm39) |
C410Y |
probably damaging |
Het |
Kif23 |
A |
G |
9: 61,831,239 (GRCm39) |
M777T |
probably benign |
Het |
Lifr |
G |
T |
15: 7,220,246 (GRCm39) |
D959Y |
probably damaging |
Het |
Lsm1 |
C |
A |
8: 26,283,806 (GRCm39) |
L73I |
possibly damaging |
Het |
Maneal |
G |
A |
4: 124,750,928 (GRCm39) |
A276V |
probably benign |
Het |
Myh4 |
A |
G |
11: 67,142,635 (GRCm39) |
D932G |
probably damaging |
Het |
Nipbl |
C |
T |
15: 8,373,058 (GRCm39) |
V1063M |
probably damaging |
Het |
Nlrx1 |
A |
G |
9: 44,164,798 (GRCm39) |
V882A |
probably benign |
Het |
Obox6 |
A |
G |
7: 15,567,638 (GRCm39) |
C270R |
probably damaging |
Het |
Or13a19 |
A |
G |
7: 139,903,140 (GRCm39) |
H176R |
possibly damaging |
Het |
Pard3b |
A |
G |
1: 62,571,835 (GRCm39) |
I925V |
possibly damaging |
Het |
Pdhx |
A |
G |
2: 102,872,594 (GRCm39) |
S163P |
probably benign |
Het |
Pdzrn3 |
T |
C |
6: 101,331,461 (GRCm39) |
D271G |
probably damaging |
Het |
Plec |
A |
G |
15: 76,075,515 (GRCm39) |
I399T |
probably damaging |
Het |
Pthlh |
T |
G |
6: 147,158,666 (GRCm39) |
D98A |
possibly damaging |
Het |
Spock3 |
T |
A |
8: 63,698,249 (GRCm39) |
|
probably null |
Het |
Tgtp2 |
C |
T |
11: 48,950,317 (GRCm39) |
G85D |
probably benign |
Het |
Tmem94 |
A |
G |
11: 115,683,897 (GRCm39) |
D739G |
probably damaging |
Het |
Washc5 |
G |
A |
15: 59,204,166 (GRCm39) |
R706* |
probably null |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
Zscan20 |
G |
T |
4: 128,480,450 (GRCm39) |
D680E |
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 |
|
IGL02413:Spata31f3
|
APN |
4 |
42,868,549 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |