Incidental Mutation 'IGL02358:Spata31'
| ID |
290381 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spata31
|
| Ensembl Gene |
ENSMUSG00000056223 |
| Gene Name |
spermatogenesis associated 31 |
| Synonyms |
Fam75a, Spata31a, 4930458L03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
IGL02358
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
65065220-65071008 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65069032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 393
(N393K)
|
| 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: N393K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: N393K
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
G |
16: 56,474,418 (GRCm39) |
T448A |
possibly damaging |
Het |
| Adamtsl1 |
T |
A |
4: 86,075,110 (GRCm39) |
|
probably null |
Het |
| Adgra3 |
A |
G |
5: 50,215,900 (GRCm39) |
V73A |
probably benign |
Het |
| Adgre4 |
G |
A |
17: 56,150,209 (GRCm39) |
R600Q |
probably benign |
Het |
| Aggf1 |
T |
C |
13: 95,489,358 (GRCm39) |
|
probably benign |
Het |
| Aktip |
C |
T |
8: 91,853,520 (GRCm39) |
V96I |
possibly damaging |
Het |
| Atm |
A |
G |
9: 53,433,476 (GRCm39) |
I258T |
probably benign |
Het |
| Baz1b |
C |
T |
5: 135,273,160 (GRCm39) |
T1428I |
probably damaging |
Het |
| C3ar1 |
A |
T |
6: 122,826,934 (GRCm39) |
Y428N |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,597,380 (GRCm38) |
S437P |
probably damaging |
Het |
| Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
| Cenpq |
A |
G |
17: 41,235,223 (GRCm39) |
L213P |
probably damaging |
Het |
| Cept1 |
A |
G |
3: 106,446,504 (GRCm39) |
|
probably null |
Het |
| Cln6 |
A |
G |
9: 62,754,407 (GRCm39) |
I150V |
probably benign |
Het |
| Cyb5r3 |
T |
C |
15: 83,045,136 (GRCm39) |
T94A |
probably benign |
Het |
| Cyp2c67 |
A |
G |
19: 39,605,861 (GRCm39) |
M345T |
probably damaging |
Het |
| Dapk2 |
T |
A |
9: 66,153,805 (GRCm39) |
I187N |
probably damaging |
Het |
| Dkk2 |
A |
G |
3: 131,883,673 (GRCm39) |
D191G |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,986,785 (GRCm39) |
F3145I |
probably damaging |
Het |
| Dock1 |
A |
C |
7: 134,710,548 (GRCm39) |
D1190A |
possibly damaging |
Het |
| Ehhadh |
T |
A |
16: 21,581,620 (GRCm39) |
L457F |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 64,001,497 (GRCm39) |
L552P |
probably damaging |
Het |
| Ghrhr |
T |
G |
6: 55,361,138 (GRCm39) |
I284S |
probably damaging |
Het |
| Gm10288 |
A |
T |
3: 146,544,954 (GRCm39) |
|
noncoding transcript |
Het |
| Gp6 |
T |
G |
7: 4,397,507 (GRCm39) |
I19L |
probably benign |
Het |
| Gria4 |
G |
A |
9: 4,456,206 (GRCm39) |
S698L |
possibly damaging |
Het |
| Ifng |
A |
T |
10: 118,278,410 (GRCm39) |
I53F |
possibly damaging |
Het |
| Kazn |
A |
C |
4: 141,874,327 (GRCm39) |
|
probably null |
Het |
| Khk |
A |
T |
5: 31,085,848 (GRCm39) |
I136F |
probably damaging |
Het |
| Krtap9-3 |
T |
A |
11: 99,488,885 (GRCm39) |
|
probably benign |
Het |
| Lnx1 |
T |
A |
5: 74,788,027 (GRCm39) |
N98Y |
probably damaging |
Het |
| Lsp1 |
T |
C |
7: 142,042,679 (GRCm39) |
|
probably null |
Het |
| Lta4h |
A |
T |
10: 93,314,329 (GRCm39) |
N467I |
probably benign |
Het |
| Mcmbp |
C |
A |
7: 128,311,505 (GRCm39) |
|
probably null |
Het |
| Me2 |
A |
T |
18: 73,931,038 (GRCm39) |
I85K |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,569,804 (GRCm39) |
T288I |
possibly damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,353,649 (GRCm39) |
Y525N |
probably damaging |
Het |
| Nt5e |
G |
A |
9: 88,209,946 (GRCm39) |
V70M |
probably damaging |
Het |
| Or52e4 |
G |
A |
7: 104,706,182 (GRCm39) |
G243D |
probably damaging |
Het |
| Or8b36 |
A |
T |
9: 37,937,332 (GRCm39) |
I77L |
possibly damaging |
Het |
| Or9k7 |
T |
G |
10: 130,046,603 (GRCm39) |
Y132S |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,373,129 (GRCm39) |
|
probably benign |
Het |
| Ppm1d |
A |
T |
11: 85,236,541 (GRCm39) |
E440V |
probably damaging |
Het |
| Pramel32 |
A |
T |
4: 88,546,127 (GRCm39) |
I405N |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,915,572 (GRCm39) |
E1047D |
probably damaging |
Het |
| Rwdd2b |
G |
A |
16: 87,234,336 (GRCm39) |
A18V |
probably benign |
Het |
| Serpina5 |
G |
T |
12: 104,068,384 (GRCm39) |
K148N |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,036,976 (GRCm39) |
K1154E |
probably benign |
Het |
| Spcs2 |
T |
C |
7: 99,498,241 (GRCm39) |
K81R |
probably damaging |
Het |
| Stt3b |
T |
A |
9: 115,079,975 (GRCm39) |
M646L |
possibly damaging |
Het |
| Suco |
T |
C |
1: 161,646,195 (GRCm39) |
T1169A |
probably benign |
Het |
| Susd1 |
A |
T |
4: 59,427,985 (GRCm39) |
Y66* |
probably null |
Het |
| Trim34a |
T |
A |
7: 103,910,441 (GRCm39) |
C414* |
probably null |
Het |
| Trim58 |
G |
A |
11: 58,542,176 (GRCm39) |
G379S |
probably damaging |
Het |
| Vmn2r50 |
T |
A |
7: 9,787,002 (GRCm39) |
Q35L |
probably benign |
Het |
| Zc3hc1 |
C |
A |
6: 30,376,057 (GRCm39) |
G168W |
probably benign |
Het |
| Zfp418 |
T |
C |
7: 7,177,690 (GRCm39) |
|
probably benign |
Het |
| Zfp57 |
G |
A |
17: 37,320,919 (GRCm39) |
V258I |
probably benign |
Het |
| Zng1 |
A |
T |
19: 24,909,026 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation