Incidental Mutation 'R8088:Spata31'
| ID |
629807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31
|
| Ensembl Gene |
ENSMUSG00000056223 |
| Gene Name |
spermatogenesis associated 31 |
| Synonyms |
Fam75a, Spata31a, 4930458L03Rik |
| MMRRC Submission |
067521-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R8088 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
65065220-65071008 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65068679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 276
(Y276N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070216]
[ENSMUST00000221202]
|
| AlphaFold |
E9QAF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070216
AA Change: Y276N
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: Y276N
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2c1 |
A |
T |
9: 105,329,768 (GRCm39) |
|
probably null |
Het |
| Ccdc134 |
T |
A |
15: 82,015,990 (GRCm39) |
|
probably benign |
Het |
| Ccdc162 |
G |
T |
10: 41,499,410 (GRCm39) |
H1066Q |
possibly damaging |
Het |
| Ccna1 |
A |
G |
3: 54,958,492 (GRCm39) |
S64P |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,215,802 (GRCm39) |
M453V |
probably benign |
Het |
| Defb12 |
T |
C |
8: 19,162,837 (GRCm39) |
|
probably null |
Het |
| Dhx9 |
C |
A |
1: 153,338,443 (GRCm39) |
V738L |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,831,330 (GRCm39) |
N843S |
probably benign |
Het |
| Dspp |
A |
G |
5: 104,325,122 (GRCm39) |
D495G |
unknown |
Het |
| Dus2 |
A |
G |
8: 106,757,073 (GRCm39) |
M88V |
probably benign |
Het |
| Dusp13b |
A |
G |
14: 21,791,305 (GRCm39) |
V49A |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,889,072 (GRCm39) |
I4163L |
probably benign |
Het |
| Ehbp1 |
G |
A |
11: 22,039,572 (GRCm39) |
H843Y |
probably null |
Het |
| Entpd3 |
A |
C |
9: 120,383,239 (GRCm39) |
R91S |
probably benign |
Het |
| Fam83c |
C |
A |
2: 155,673,559 (GRCm39) |
V210F |
probably damaging |
Het |
| Flot1 |
G |
A |
17: 36,140,870 (GRCm39) |
A287T |
probably damaging |
Het |
| Gm19410 |
A |
G |
8: 36,273,995 (GRCm39) |
K1412E |
probably benign |
Het |
| Gsn |
G |
A |
2: 35,182,659 (GRCm39) |
V241M |
possibly damaging |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Heatr5a |
T |
C |
12: 51,994,779 (GRCm39) |
D451G |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,316,915 (GRCm39) |
W3831* |
probably null |
Het |
| Il3 |
A |
G |
11: 54,156,375 (GRCm39) |
V119A |
probably benign |
Het |
| Jam3 |
T |
C |
9: 27,010,156 (GRCm39) |
K276R |
probably benign |
Het |
| Kcnt1 |
G |
A |
2: 25,784,326 (GRCm39) |
G277D |
possibly damaging |
Het |
| Kif28 |
T |
A |
1: 179,527,919 (GRCm39) |
D744V |
probably damaging |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Loxhd1 |
T |
C |
18: 77,429,709 (GRCm39) |
I535T |
possibly damaging |
Het |
| Lzts1 |
A |
C |
8: 69,588,474 (GRCm39) |
L494R |
probably benign |
Het |
| Mettl4 |
A |
G |
17: 95,042,795 (GRCm39) |
V347A |
probably damaging |
Het |
| Mff |
A |
G |
1: 82,729,370 (GRCm39) |
E270G |
probably damaging |
Het |
| Mroh2b |
A |
T |
15: 4,929,985 (GRCm39) |
I24F |
possibly damaging |
Het |
| Muc16 |
A |
T |
9: 18,430,596 (GRCm39) |
Y8102* |
probably null |
Het |
| Myh14 |
A |
T |
7: 44,314,920 (GRCm39) |
M1K |
probably null |
Het |
| Myo18b |
T |
A |
5: 113,027,376 (GRCm39) |
|
probably benign |
Het |
| Neurl1a |
C |
A |
19: 47,245,873 (GRCm39) |
P502T |
probably damaging |
Het |
| Nrp1 |
G |
A |
8: 129,194,997 (GRCm39) |
W484* |
probably null |
Het |
| Or2y3 |
T |
A |
17: 38,393,452 (GRCm39) |
H139L |
possibly damaging |
Het |
| Or4f47 |
T |
A |
2: 111,972,602 (GRCm39) |
I104N |
probably benign |
Het |
| Pcdhac1 |
T |
C |
18: 37,224,807 (GRCm39) |
V540A |
possibly damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,870,007 (GRCm39) |
|
probably benign |
Het |
| Pm20d1 |
A |
C |
1: 131,729,501 (GRCm39) |
N176T |
probably benign |
Het |
| Pnldc1 |
T |
C |
17: 13,116,189 (GRCm39) |
D271G |
probably damaging |
Het |
| Pold3 |
A |
G |
7: 99,761,508 (GRCm39) |
V63A |
probably damaging |
Het |
| Rbm18 |
A |
C |
2: 36,017,196 (GRCm39) |
S61A |
probably benign |
Het |
| Rdh14 |
T |
C |
12: 10,444,551 (GRCm39) |
L134P |
probably damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rtel1 |
A |
G |
2: 180,964,138 (GRCm39) |
T46A |
probably damaging |
Het |
| Rtn3 |
T |
C |
19: 7,412,363 (GRCm39) |
I823V |
probably damaging |
Het |
| S1pr1 |
A |
G |
3: 115,505,683 (GRCm39) |
S304P |
probably damaging |
Het |
| Scfd2 |
A |
G |
5: 74,692,024 (GRCm39) |
V86A |
probably benign |
Het |
| Scgb1a1 |
C |
T |
19: 9,062,599 (GRCm39) |
V66M |
probably damaging |
Het |
| Sec31a |
A |
T |
5: 100,526,721 (GRCm39) |
M46K |
|
Het |
| Sgsm1 |
A |
G |
5: 113,403,134 (GRCm39) |
M971T |
probably damaging |
Het |
| Slc5a11 |
T |
C |
7: 122,864,951 (GRCm39) |
I419T |
probably benign |
Het |
| Slco6d1 |
A |
T |
1: 98,394,431 (GRCm39) |
T372S |
possibly damaging |
Het |
| Slx9 |
T |
C |
10: 77,350,229 (GRCm39) |
N53S |
probably benign |
Het |
| Sprr2k |
C |
T |
3: 92,340,796 (GRCm39) |
R49W |
unknown |
Het |
| Sspo |
G |
A |
6: 48,434,547 (GRCm39) |
C1013Y |
probably damaging |
Het |
| Ssr2 |
A |
G |
3: 88,487,190 (GRCm39) |
R2G |
possibly damaging |
Het |
| St18 |
C |
A |
1: 6,898,229 (GRCm39) |
T677K |
probably benign |
Het |
| Thap11 |
A |
T |
8: 106,582,527 (GRCm39) |
I179F |
probably damaging |
Het |
| Trf |
C |
A |
9: 103,089,130 (GRCm39) |
G586C |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,192,770 (GRCm39) |
N299S |
probably benign |
Het |
| Xrcc5 |
C |
A |
1: 72,351,595 (GRCm39) |
A55E |
probably 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 |
|
R6965:Spata31
|
UTSW |
13 |
65,070,648 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
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'- AATGTCACCAATGCTTCCCC -3'
(R):5'- AGCCACTTTTGAATGTGTTGCTC -3'
Sequencing Primer
(F):5'- CATACACATCCTCTGTCCTATCTGG -3'
(R):5'- AGTTTCTCCCGGAGCTCACG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation