Incidental Mutation 'R6778:Spata31f3'
ID |
531364 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31f3
|
Ensembl Gene |
ENSMUSG00000050141 |
Gene Name |
spermatogenesis associated 31 subfamily F member 3 |
Synonyms |
BC049635, Fam205c |
MMRRC Submission |
044894-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R6778 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
42868004-42874234 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42868522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 367
(K367R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060318
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055944]
[ENSMUST00000107978]
|
AlphaFold |
Q80YD3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055944
AA Change: K367R
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000060318 Gene: ENSMUSG00000050141 AA Change: K367R
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 |
possibly damaging
Transcript: ENSMUST00000107978
AA Change: K368R
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103612 Gene: ENSMUSG00000050141 AA Change: K368R
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts14 |
T |
A |
10: 61,061,231 (GRCm39) |
N403Y |
probably damaging |
Het |
Akap6 |
A |
G |
12: 53,072,599 (GRCm39) |
E989G |
probably damaging |
Het |
Aoc2 |
A |
G |
11: 101,216,187 (GRCm39) |
N90S |
probably damaging |
Het |
Apol9a |
T |
C |
15: 77,288,533 (GRCm39) |
Y278C |
probably benign |
Het |
Casq2 |
T |
A |
3: 102,035,247 (GRCm39) |
|
probably null |
Het |
Ccdc7a |
T |
A |
8: 129,547,601 (GRCm39) |
T1284S |
possibly damaging |
Het |
Dlat |
A |
G |
9: 50,562,157 (GRCm39) |
L289P |
probably damaging |
Het |
Dnah8 |
C |
T |
17: 30,854,640 (GRCm39) |
P101S |
probably benign |
Het |
Dzip3 |
C |
A |
16: 48,802,446 (GRCm39) |
A28S |
probably benign |
Het |
Ffar4 |
A |
G |
19: 38,102,112 (GRCm39) |
E249G |
possibly damaging |
Het |
Fubp3 |
A |
T |
2: 31,488,685 (GRCm39) |
K180N |
possibly damaging |
Het |
Gm7489 |
T |
A |
15: 53,749,348 (GRCm39) |
|
probably benign |
Het |
Ifitm6 |
A |
T |
7: 140,596,056 (GRCm39) |
M59K |
possibly damaging |
Het |
Igkv4-80 |
A |
T |
6: 68,993,545 (GRCm39) |
Y115* |
probably null |
Het |
Igsf21 |
G |
T |
4: 139,761,959 (GRCm39) |
R240S |
probably benign |
Het |
Kank4 |
A |
T |
4: 98,649,742 (GRCm39) |
N942K |
probably benign |
Het |
Man2a1 |
C |
A |
17: 65,021,630 (GRCm39) |
T35K |
possibly damaging |
Het |
Mvk |
T |
A |
5: 114,590,441 (GRCm39) |
D193E |
probably benign |
Het |
Npas2 |
T |
A |
1: 39,364,381 (GRCm39) |
M241K |
possibly damaging |
Het |
Npsr1 |
T |
A |
9: 24,165,914 (GRCm39) |
I100N |
possibly damaging |
Het |
Olfml2b |
A |
G |
1: 170,472,639 (GRCm39) |
D50G |
probably damaging |
Het |
Or10d4c |
T |
A |
9: 39,558,043 (GRCm39) |
V7E |
probably damaging |
Het |
Pcnx1 |
A |
G |
12: 81,965,645 (GRCm39) |
D604G |
probably damaging |
Het |
Pitx2 |
C |
T |
3: 129,012,392 (GRCm39) |
P254L |
probably damaging |
Het |
Rdh10 |
T |
C |
1: 16,176,408 (GRCm39) |
F56S |
probably damaging |
Het |
Rin1 |
T |
C |
19: 5,104,914 (GRCm39) |
L647P |
probably damaging |
Het |
Sgk3 |
T |
A |
1: 9,956,369 (GRCm39) |
|
probably null |
Het |
Sgpp1 |
A |
G |
12: 75,763,068 (GRCm39) |
I371T |
probably benign |
Het |
Slc12a9 |
T |
C |
5: 137,313,343 (GRCm39) |
Y872C |
possibly damaging |
Het |
Syne1 |
A |
G |
10: 5,052,406 (GRCm39) |
F7487L |
probably damaging |
Het |
Tars1 |
T |
C |
15: 11,389,785 (GRCm39) |
N375S |
probably benign |
Het |
Tbc1d31 |
A |
G |
15: 57,801,425 (GRCm39) |
Y320C |
probably damaging |
Het |
Tbl1xr1 |
T |
A |
3: 22,243,946 (GRCm39) |
F73L |
probably benign |
Het |
Tmem145 |
G |
A |
7: 25,010,801 (GRCm39) |
V378I |
probably benign |
Het |
Tmprss11d |
T |
C |
5: 86,457,209 (GRCm39) |
H150R |
probably benign |
Het |
Tnc |
T |
G |
4: 63,913,835 (GRCm39) |
I1326L |
probably benign |
Het |
Trpc7 |
T |
C |
13: 56,952,500 (GRCm39) |
Y502C |
probably damaging |
Het |
Usp32 |
T |
C |
11: 84,916,512 (GRCm39) |
I811V |
probably benign |
Het |
Vmn1r71 |
C |
T |
7: 10,482,143 (GRCm39) |
A182T |
probably benign |
Het |
Wdr47 |
T |
A |
3: 108,540,412 (GRCm39) |
N602K |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACCAGGACCTTCTGAGAGG -3'
(R):5'- GCCCTCAGAAGCTGAAATGG -3'
Sequencing Primer
(F):5'- CCTTCTGAGAGGAGAGCTGACATTG -3'
(R):5'- ACAAGATGACGTTCTTTTCTCACTGG -3'
|
Posted On |
2018-08-29 |