Incidental Mutation 'R6965:Spata31'
ID |
541965 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31
|
Ensembl Gene |
ENSMUSG00000056223 |
Gene Name |
spermatogenesis associated 31 |
Synonyms |
Fam75a, Spata31a, 4930458L03Rik |
MMRRC Submission |
045075-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.216)
|
Stock # |
R6965 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
65065220-65071008 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 65070648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Proline
at position 932
(Q932P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070216]
[ENSMUST00000221202]
|
AlphaFold |
E9QAF0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070216
AA Change: Q932P
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000097025 Gene: ENSMUSG00000056223 AA Change: Q932P
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
45 |
N/A |
INTRINSIC |
low complexity region
|
91 |
106 |
N/A |
INTRINSIC |
Pfam:FAM75
|
149 |
431 |
1.7e-83 |
PFAM |
Pfam:FAM75
|
426 |
462 |
4.5e-9 |
PFAM |
low complexity region
|
478 |
491 |
N/A |
INTRINSIC |
low complexity region
|
544 |
555 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221202
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
C |
T |
7: 119,882,452 (GRCm39) |
Q1205* |
probably null |
Het |
Als2 |
A |
G |
1: 59,209,716 (GRCm39) |
F1422S |
possibly damaging |
Het |
Anapc4 |
T |
C |
5: 52,993,093 (GRCm39) |
V68A |
possibly damaging |
Het |
Atmin |
T |
C |
8: 117,683,777 (GRCm39) |
F479S |
probably damaging |
Het |
Atp7b |
T |
C |
8: 22,518,101 (GRCm39) |
T234A |
probably benign |
Het |
Bpifa1 |
G |
A |
2: 153,987,581 (GRCm39) |
G144S |
probably damaging |
Het |
Brf2 |
A |
T |
8: 27,614,586 (GRCm39) |
M200K |
probably benign |
Het |
C1ql2 |
G |
A |
1: 120,268,944 (GRCm39) |
C33Y |
probably damaging |
Het |
Cdk18 |
A |
G |
1: 132,045,319 (GRCm39) |
V269A |
probably damaging |
Het |
Clcc1 |
T |
C |
3: 108,580,625 (GRCm39) |
V313A |
probably damaging |
Het |
Cntrl |
A |
T |
2: 35,052,845 (GRCm39) |
T1117S |
probably benign |
Het |
Col15a1 |
G |
A |
4: 47,247,533 (GRCm39) |
E236K |
probably damaging |
Het |
Comp |
T |
C |
8: 70,829,164 (GRCm39) |
L278P |
probably damaging |
Het |
Csnk2a1-ps3 |
C |
T |
1: 156,352,119 (GRCm39) |
R107* |
probably null |
Het |
Dlg5 |
C |
A |
14: 24,199,498 (GRCm39) |
D1469Y |
probably damaging |
Het |
Efna1 |
A |
T |
3: 89,186,782 (GRCm39) |
V23D |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Epb41l4b |
T |
C |
4: 57,040,915 (GRCm39) |
Y516C |
probably damaging |
Het |
Esr2 |
T |
C |
12: 76,168,631 (GRCm39) |
D526G |
probably damaging |
Het |
Fam184b |
T |
C |
5: 45,712,477 (GRCm39) |
T514A |
probably benign |
Het |
Fcmr |
A |
C |
1: 130,803,724 (GRCm39) |
E176A |
possibly damaging |
Het |
Fry |
T |
A |
5: 150,339,685 (GRCm39) |
N1485K |
possibly damaging |
Het |
Fut2 |
A |
G |
7: 45,300,305 (GRCm39) |
C156R |
probably damaging |
Het |
Gm5431 |
T |
C |
11: 48,786,027 (GRCm39) |
Y116C |
probably benign |
Het |
Gm5493 |
T |
A |
17: 22,967,047 (GRCm39) |
V61E |
possibly damaging |
Het |
Golga4 |
A |
T |
9: 118,377,847 (GRCm39) |
Q456L |
probably damaging |
Het |
Gpam |
T |
C |
19: 55,063,041 (GRCm39) |
Y757C |
probably damaging |
Het |
Iqcg |
C |
T |
16: 32,851,174 (GRCm39) |
A266T |
probably benign |
Het |
Lta4h |
G |
T |
10: 93,307,759 (GRCm39) |
G331* |
probably null |
Het |
Macf1 |
C |
A |
4: 123,302,538 (GRCm39) |
V655F |
probably benign |
Het |
Map3k13 |
T |
A |
16: 21,740,900 (GRCm39) |
D742E |
probably benign |
Het |
Mrgprb2 |
G |
A |
7: 48,202,597 (GRCm39) |
L43F |
probably damaging |
Het |
N4bp1 |
T |
C |
8: 87,571,461 (GRCm39) |
R846G |
probably damaging |
Het |
Nbn |
T |
C |
4: 15,970,863 (GRCm39) |
I282T |
probably benign |
Het |
Ncor1 |
C |
T |
11: 62,244,059 (GRCm39) |
|
probably null |
Het |
Or4a77 |
G |
T |
2: 89,487,009 (GRCm39) |
P259T |
probably damaging |
Het |
Or4d10c |
A |
G |
19: 12,066,120 (GRCm39) |
F12S |
possibly damaging |
Het |
Or8b12 |
T |
A |
9: 37,657,433 (GRCm39) |
M1K |
probably null |
Het |
Pclo |
A |
G |
5: 14,731,976 (GRCm39) |
|
probably benign |
Het |
Pde9a |
G |
T |
17: 31,662,861 (GRCm39) |
V97L |
probably benign |
Het |
Ptch1 |
T |
C |
13: 63,672,881 (GRCm39) |
Y771C |
possibly damaging |
Het |
R3hcc1l |
G |
A |
19: 42,551,284 (GRCm39) |
D94N |
probably damaging |
Het |
Rnpep |
T |
A |
1: 135,190,858 (GRCm39) |
K602* |
probably null |
Het |
Rph3al |
T |
C |
11: 75,745,276 (GRCm39) |
Y156C |
probably damaging |
Het |
Rundc1 |
A |
T |
11: 101,324,737 (GRCm39) |
Y481F |
possibly damaging |
Het |
Serpinb9f |
A |
G |
13: 33,509,859 (GRCm39) |
K17R |
possibly damaging |
Het |
Smpd3 |
T |
C |
8: 106,986,513 (GRCm39) |
H459R |
probably damaging |
Het |
Srgap3 |
C |
T |
6: 112,700,090 (GRCm39) |
A963T |
probably damaging |
Het |
Syne1 |
A |
T |
10: 5,179,120 (GRCm39) |
F4451L |
possibly damaging |
Het |
Tbc1d19 |
T |
A |
5: 54,014,266 (GRCm39) |
|
probably null |
Het |
Thap12 |
T |
A |
7: 98,364,669 (GRCm39) |
V279D |
probably damaging |
Het |
Tmprss6 |
T |
C |
15: 78,328,328 (GRCm39) |
D544G |
probably damaging |
Het |
Tox2 |
A |
G |
2: 163,164,930 (GRCm39) |
*523W |
probably null |
Het |
Txnrd1 |
T |
C |
10: 82,717,652 (GRCm39) |
I212T |
probably benign |
Het |
Unc80 |
T |
C |
1: 66,685,725 (GRCm39) |
I2283T |
probably benign |
Het |
Vmn1r176 |
A |
G |
7: 23,535,099 (GRCm39) |
I18T |
possibly damaging |
Het |
Vmn2r101 |
C |
T |
17: 19,811,284 (GRCm39) |
T456I |
probably benign |
Het |
Vmn2r79 |
T |
A |
7: 86,651,100 (GRCm39) |
H166Q |
probably benign |
Het |
Zer1 |
A |
G |
2: 29,991,059 (GRCm39) |
V723A |
possibly damaging |
Het |
|
Other mutations in Spata31 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00663:Spata31
|
APN |
13 |
65,070,602 (GRCm39) |
nonsense |
probably null |
|
IGL01143:Spata31
|
APN |
13 |
65,068,630 (GRCm39) |
nonsense |
probably null |
|
IGL01321:Spata31
|
APN |
13 |
65,069,568 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01624:Spata31
|
APN |
13 |
65,069,399 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01844:Spata31
|
APN |
13 |
65,068,968 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02259:Spata31
|
APN |
13 |
65,069,297 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02358:Spata31
|
APN |
13 |
65,069,032 (GRCm39) |
missense |
probably benign |
|
IGL02377:Spata31
|
APN |
13 |
65,068,194 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02723:Spata31
|
APN |
13 |
65,068,463 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03125:Spata31
|
APN |
13 |
65,068,703 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03343:Spata31
|
APN |
13 |
65,067,587 (GRCm39) |
missense |
probably benign |
0.41 |
BB006:Spata31
|
UTSW |
13 |
65,069,532 (GRCm39) |
missense |
probably benign |
0.04 |
BB016:Spata31
|
UTSW |
13 |
65,069,532 (GRCm39) |
missense |
probably benign |
0.04 |
F5770:Spata31
|
UTSW |
13 |
65,069,462 (GRCm39) |
missense |
probably benign |
0.18 |
IGL02991:Spata31
|
UTSW |
13 |
65,068,533 (GRCm39) |
missense |
probably benign |
0.05 |
P0043:Spata31
|
UTSW |
13 |
65,068,820 (GRCm39) |
splice site |
probably null |
|
PIT4366001:Spata31
|
UTSW |
13 |
65,069,319 (GRCm39) |
nonsense |
probably null |
|
PIT4458001:Spata31
|
UTSW |
13 |
65,069,664 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4687001:Spata31
|
UTSW |
13 |
65,069,151 (GRCm39) |
missense |
probably benign |
0.02 |
R0042:Spata31
|
UTSW |
13 |
65,070,377 (GRCm39) |
missense |
probably benign |
0.00 |
R0042:Spata31
|
UTSW |
13 |
65,070,377 (GRCm39) |
missense |
probably benign |
0.00 |
R0064:Spata31
|
UTSW |
13 |
65,069,912 (GRCm39) |
missense |
probably damaging |
0.98 |
R0064:Spata31
|
UTSW |
13 |
65,069,912 (GRCm39) |
missense |
probably damaging |
0.98 |
R0639:Spata31
|
UTSW |
13 |
65,070,027 (GRCm39) |
missense |
probably benign |
0.02 |
R1253:Spata31
|
UTSW |
13 |
65,069,838 (GRCm39) |
missense |
probably benign |
0.23 |
R1536:Spata31
|
UTSW |
13 |
65,069,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R1656:Spata31
|
UTSW |
13 |
65,068,953 (GRCm39) |
missense |
probably benign |
|
R1802:Spata31
|
UTSW |
13 |
65,070,197 (GRCm39) |
missense |
probably benign |
0.01 |
R1813:Spata31
|
UTSW |
13 |
65,069,612 (GRCm39) |
missense |
probably benign |
0.32 |
R1916:Spata31
|
UTSW |
13 |
65,070,359 (GRCm39) |
nonsense |
probably null |
|
R1917:Spata31
|
UTSW |
13 |
65,068,679 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1933:Spata31
|
UTSW |
13 |
65,068,424 (GRCm39) |
missense |
probably benign |
0.02 |
R2910:Spata31
|
UTSW |
13 |
65,068,250 (GRCm39) |
missense |
probably benign |
0.12 |
R3750:Spata31
|
UTSW |
13 |
65,069,557 (GRCm39) |
missense |
probably benign |
0.01 |
R3876:Spata31
|
UTSW |
13 |
65,068,745 (GRCm39) |
missense |
probably benign |
0.03 |
R3980:Spata31
|
UTSW |
13 |
65,070,468 (GRCm39) |
missense |
probably benign |
0.24 |
R4056:Spata31
|
UTSW |
13 |
65,069,469 (GRCm39) |
missense |
probably benign |
0.00 |
R4300:Spata31
|
UTSW |
13 |
65,067,575 (GRCm39) |
missense |
probably benign |
0.08 |
R4797:Spata31
|
UTSW |
13 |
65,070,556 (GRCm39) |
nonsense |
probably null |
|
R4997:Spata31
|
UTSW |
13 |
65,067,537 (GRCm39) |
missense |
probably benign |
0.00 |
R5185:Spata31
|
UTSW |
13 |
65,065,340 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5366:Spata31
|
UTSW |
13 |
65,068,273 (GRCm39) |
missense |
probably damaging |
0.98 |
R5539:Spata31
|
UTSW |
13 |
65,070,783 (GRCm39) |
missense |
probably benign |
0.00 |
R5704:Spata31
|
UTSW |
13 |
65,069,855 (GRCm39) |
missense |
probably benign |
0.32 |
R5748:Spata31
|
UTSW |
13 |
65,068,127 (GRCm39) |
makesense |
probably null |
|
R5834:Spata31
|
UTSW |
13 |
65,070,480 (GRCm39) |
missense |
probably benign |
0.19 |
R5926:Spata31
|
UTSW |
13 |
65,068,539 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6476:Spata31
|
UTSW |
13 |
65,065,456 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6603:Spata31
|
UTSW |
13 |
65,070,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R6620:Spata31
|
UTSW |
13 |
65,067,571 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7086:Spata31
|
UTSW |
13 |
65,070,043 (GRCm39) |
missense |
probably benign |
0.02 |
R7140:Spata31
|
UTSW |
13 |
65,068,913 (GRCm39) |
missense |
probably benign |
|
R7396:Spata31
|
UTSW |
13 |
65,068,547 (GRCm39) |
missense |
probably benign |
|
R7545:Spata31
|
UTSW |
13 |
65,070,359 (GRCm39) |
nonsense |
probably null |
|
R7575:Spata31
|
UTSW |
13 |
65,070,726 (GRCm39) |
missense |
unknown |
|
R7607:Spata31
|
UTSW |
13 |
65,069,406 (GRCm39) |
missense |
probably damaging |
1.00 |
R7929:Spata31
|
UTSW |
13 |
65,069,532 (GRCm39) |
missense |
probably benign |
0.04 |
R8024:Spata31
|
UTSW |
13 |
65,070,618 (GRCm39) |
missense |
probably benign |
0.12 |
R8088:Spata31
|
UTSW |
13 |
65,068,679 (GRCm39) |
missense |
probably benign |
0.31 |
R8323:Spata31
|
UTSW |
13 |
65,070,065 (GRCm39) |
missense |
possibly damaging |
0.61 |
R8362:Spata31
|
UTSW |
13 |
65,070,044 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8870:Spata31
|
UTSW |
13 |
65,068,818 (GRCm39) |
missense |
probably benign |
|
R9429:Spata31
|
UTSW |
13 |
65,070,336 (GRCm39) |
missense |
probably benign |
0.43 |
R9465:Spata31
|
UTSW |
13 |
65,068,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R9542:Spata31
|
UTSW |
13 |
65,070,077 (GRCm39) |
missense |
probably damaging |
0.96 |
R9627:Spata31
|
UTSW |
13 |
65,065,409 (GRCm39) |
missense |
possibly damaging |
0.95 |
V7580:Spata31
|
UTSW |
13 |
65,069,462 (GRCm39) |
missense |
probably benign |
0.18 |
V7581:Spata31
|
UTSW |
13 |
65,069,462 (GRCm39) |
missense |
probably benign |
0.18 |
V7583:Spata31
|
UTSW |
13 |
65,069,462 (GRCm39) |
missense |
probably benign |
0.18 |
Z1176:Spata31
|
UTSW |
13 |
65,069,786 (GRCm39) |
nonsense |
probably null |
|
Z1177:Spata31
|
UTSW |
13 |
65,069,786 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCAACATCAACCCTATGCTTC -3'
(R):5'- AGTTCTCTACAGACATCTCTCTGG -3'
Sequencing Primer
(F):5'- TGCTTCAAAATTCAACCAGCACAGG -3'
(R):5'- TACAGACATCTCTCTGGAGGGC -3'
|
Posted On |
2018-11-28 |