Incidental Mutation 'R7675:Spata31f3'
ID |
592413 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31f3
|
Ensembl Gene |
ENSMUSG00000050141 |
Gene Name |
spermatogenesis associated 31 subfamily F member 3 |
Synonyms |
BC049635, Fam205c |
MMRRC Submission |
045706-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R7675 (G1)
|
Quality Score |
112.474 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
42868004-42874234 bp(-) (GRCm39) |
Type of Mutation |
small deletion (11 aa in frame mutation) |
DNA Base Change (assembly) |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG to TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG
at 42871823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103612
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055944]
[ENSMUST00000107978]
|
AlphaFold |
Q80YD3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055944
|
SMART Domains |
Protein: ENSMUSP00000060318 Gene: ENSMUSG00000050141
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
|
SMART Domains |
Protein: ENSMUSP00000103612 Gene: ENSMUSG00000050141
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
97% (28/29) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010109A12Rik |
T |
C |
5: 93,361,233 (GRCm39) |
S96P |
unknown |
Het |
Acaca |
A |
G |
11: 84,206,742 (GRCm39) |
E1534G |
probably benign |
Het |
Adam7 |
A |
T |
14: 68,737,302 (GRCm39) |
D773E |
probably benign |
Het |
Cacna1s |
T |
A |
1: 136,038,612 (GRCm39) |
I1398N |
probably damaging |
Het |
Calu |
C |
T |
6: 29,356,516 (GRCm39) |
T14I |
probably benign |
Het |
Casp8 |
A |
G |
1: 58,863,106 (GRCm39) |
D2G |
possibly damaging |
Het |
Cldn1 |
T |
C |
16: 26,190,261 (GRCm39) |
N39S |
probably benign |
Het |
Clspn |
T |
C |
4: 126,460,113 (GRCm39) |
S447P |
probably benign |
Het |
Eef2k |
A |
G |
7: 120,457,727 (GRCm39) |
T29A |
probably benign |
Het |
Gm5519 |
G |
C |
19: 33,802,428 (GRCm39) |
G157A |
probably benign |
Het |
Gucy2c |
A |
G |
6: 136,693,030 (GRCm39) |
V723A |
possibly damaging |
Het |
Ighv1-69 |
A |
T |
12: 115,587,209 (GRCm39) |
W3R |
probably damaging |
Het |
Inava |
G |
T |
1: 136,143,741 (GRCm39) |
A565E |
probably benign |
Het |
Krtap16-1 |
A |
G |
11: 99,876,259 (GRCm39) |
C382R |
possibly damaging |
Het |
Lrrc8a |
G |
A |
2: 30,145,680 (GRCm39) |
D165N |
probably damaging |
Het |
Mideas |
G |
T |
12: 84,220,574 (GRCm39) |
P127T |
probably damaging |
Het |
Naaladl2 |
T |
A |
3: 24,605,816 (GRCm39) |
M148L |
probably benign |
Het |
Nphp3 |
A |
T |
9: 103,893,287 (GRCm39) |
E424D |
probably benign |
Het |
Prpf40a |
T |
C |
2: 53,035,648 (GRCm39) |
K714R |
possibly damaging |
Het |
Ptpn23 |
A |
T |
9: 110,216,094 (GRCm39) |
L1254* |
probably null |
Het |
Sap30l |
A |
G |
11: 57,700,867 (GRCm39) |
K174E |
probably damaging |
Het |
Serpinb9d |
C |
T |
13: 33,386,759 (GRCm39) |
Q276* |
probably null |
Het |
Sp140l2 |
C |
T |
1: 85,224,736 (GRCm39) |
M266I |
probably benign |
Het |
Tex14 |
A |
G |
11: 87,400,504 (GRCm39) |
D432G |
probably damaging |
Het |
Tmsb10b |
A |
T |
7: 24,561,784 (GRCm39) |
T28S |
probably benign |
Het |
Unc119 |
G |
A |
11: 78,234,423 (GRCm39) |
G11R |
probably damaging |
Het |
Usp36 |
A |
G |
11: 118,154,522 (GRCm39) |
V965A |
probably benign |
Het |
Vmn2r4 |
A |
T |
3: 64,322,657 (GRCm39) |
Y21N |
probably benign |
Het |
Zbtb38 |
G |
T |
9: 96,567,594 (GRCm39) |
D1163E |
probably benign |
Het |
Zfp62 |
A |
G |
11: 49,106,847 (GRCm39) |
I313V |
possibly damaging |
Het |
Zfp980 |
C |
T |
4: 145,428,164 (GRCm39) |
Q298* |
probably null |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGGAACGCATTTGACCC -3'
(R):5'- AGACCTCTTCCAGTCTACTGAG -3'
Sequencing Primer
(F):5'- AACGCATTTGACCCTTGAGG -3'
(R):5'- GGCACTCCCGCAGCTTTTC -3'
|
Posted On |
2019-11-12 |