Incidental Mutation 'IGL01296:Spata31e5'
| ID |
73121 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spata31e5
|
| Ensembl Gene |
ENSMUSG00000048411 |
| Gene Name |
spermatogenesis associated 31 subfamily E member 5 |
| Synonyms |
Gm597, LOC210962 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL01296
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
28815203-28819333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28816137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 632
(I632V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059937]
|
| AlphaFold |
E9Q8J5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059937
AA Change: I632V
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: I632V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
129 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
137 |
472 |
8.1e-14 |
PFAM |
|
low complexity region
|
664 |
675 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
718 |
807 |
1.4e-5 |
PROSPERO |
|
internal_repeat_1
|
807 |
894 |
1.4e-5 |
PROSPERO |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
A |
G |
1: 66,880,864 (GRCm39) |
S301P |
probably damaging |
Het |
| Adam34 |
A |
G |
8: 44,104,178 (GRCm39) |
V489A |
possibly damaging |
Het |
| Adcy8 |
G |
A |
15: 64,655,628 (GRCm39) |
T617I |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,490,479 (GRCm39) |
D605G |
probably damaging |
Het |
| Atp10a |
T |
A |
7: 58,463,373 (GRCm39) |
F969I |
probably benign |
Het |
| Becn1 |
A |
T |
11: 101,182,277 (GRCm39) |
N97K |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Crtac1 |
A |
T |
19: 42,272,652 (GRCm39) |
C578S |
probably damaging |
Het |
| Dcp1b |
A |
G |
6: 119,192,319 (GRCm39) |
K412E |
probably damaging |
Het |
| Dlg2 |
T |
A |
7: 91,589,267 (GRCm39) |
I327N |
probably damaging |
Het |
| Ehf |
T |
A |
2: 103,098,500 (GRCm39) |
|
probably null |
Het |
| Elavl4 |
T |
C |
4: 110,063,809 (GRCm39) |
N264S |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,739,065 (GRCm39) |
I406N |
probably damaging |
Het |
| F10 |
A |
T |
8: 13,105,383 (GRCm39) |
Y316F |
possibly damaging |
Het |
| Fam20a |
A |
G |
11: 109,576,177 (GRCm39) |
I194T |
possibly damaging |
Het |
| Fcgbp |
T |
C |
7: 27,789,072 (GRCm39) |
V546A |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,821,557 (GRCm39) |
Q1438L |
probably null |
Het |
| Gm43638 |
T |
C |
5: 87,608,451 (GRCm39) |
I463V |
probably benign |
Het |
| H2-T10 |
T |
C |
17: 36,431,602 (GRCm39) |
D84G |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,376,322 (GRCm39) |
F1262L |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,052,046 (GRCm39) |
N335D |
probably benign |
Het |
| Lasp1 |
T |
C |
11: 97,727,016 (GRCm39) |
V246A |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,567,345 (GRCm39) |
I135L |
probably benign |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Mctp2 |
T |
C |
7: 71,878,274 (GRCm39) |
K268R |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,938,957 (GRCm39) |
H710Q |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,385,731 (GRCm39) |
R13C |
unknown |
Het |
| Ogfod1 |
A |
T |
8: 94,782,299 (GRCm39) |
|
probably benign |
Het |
| Or1j11 |
A |
G |
2: 36,311,716 (GRCm39) |
Y102C |
probably benign |
Het |
| Or5b111 |
A |
G |
19: 13,291,490 (GRCm39) |
L53P |
probably damaging |
Het |
| Or8d2 |
T |
C |
9: 38,759,548 (GRCm39) |
I46T |
probably damaging |
Het |
| Pgm3 |
A |
G |
9: 86,443,932 (GRCm39) |
V324A |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,694,068 (GRCm39) |
I681F |
probably damaging |
Het |
| Prss23 |
T |
C |
7: 89,159,095 (GRCm39) |
K325E |
possibly damaging |
Het |
| Psmd7 |
T |
A |
8: 108,313,249 (GRCm39) |
|
probably benign |
Het |
| Rfx2 |
T |
A |
17: 57,115,317 (GRCm39) |
M1L |
possibly damaging |
Het |
| Rpa1 |
T |
C |
11: 75,203,141 (GRCm39) |
Y418C |
probably damaging |
Het |
| Rps6kc1 |
C |
T |
1: 190,505,875 (GRCm39) |
R1029H |
probably damaging |
Het |
| Septin10 |
A |
G |
10: 59,002,422 (GRCm39) |
V391A |
probably benign |
Het |
| Skint6 |
A |
G |
4: 113,093,637 (GRCm39) |
F169L |
probably benign |
Het |
| Slc44a4 |
C |
T |
17: 35,140,674 (GRCm39) |
T289I |
probably benign |
Het |
| Srl |
T |
C |
16: 4,315,546 (GRCm39) |
D32G |
probably damaging |
Het |
| Stxbp3-ps |
T |
A |
19: 9,535,256 (GRCm39) |
|
noncoding transcript |
Het |
| Sult1b1 |
T |
C |
5: 87,662,815 (GRCm39) |
D295G |
probably benign |
Het |
| Tmprss7 |
A |
G |
16: 45,504,937 (GRCm39) |
V151A |
probably damaging |
Het |
| Trmo |
A |
G |
4: 46,387,589 (GRCm39) |
L84P |
probably damaging |
Het |
| Vmn2r98 |
T |
A |
17: 19,285,447 (GRCm39) |
I89N |
probably damaging |
Het |
| Zcwpw1 |
G |
A |
5: 137,795,061 (GRCm39) |
A86T |
probably benign |
Het |
| Zkscan16 |
A |
G |
4: 58,956,690 (GRCm39) |
H324R |
possibly damaging |
Het |
|
| Other mutations in Spata31e5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00740:Spata31e5
|
APN |
1 |
28,817,732 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00885:Spata31e5
|
APN |
1 |
28,815,926 (GRCm39) |
missense |
unknown |
|
|
IGL01476:Spata31e5
|
APN |
1 |
28,816,534 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02125:Spata31e5
|
APN |
1 |
28,815,419 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02410:Spata31e5
|
APN |
1 |
28,817,712 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02982:Spata31e5
|
APN |
1 |
28,817,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03031:Spata31e5
|
APN |
1 |
28,817,664 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03267:Spata31e5
|
APN |
1 |
28,816,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0294:Spata31e5
|
UTSW |
1 |
28,817,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0433:Spata31e5
|
UTSW |
1 |
28,816,423 (GRCm39) |
nonsense |
probably null |
|
|
R0485:Spata31e5
|
UTSW |
1 |
28,817,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0645:Spata31e5
|
UTSW |
1 |
28,816,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0744:Spata31e5
|
UTSW |
1 |
28,816,902 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0836:Spata31e5
|
UTSW |
1 |
28,816,902 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1036:Spata31e5
|
UTSW |
1 |
28,816,883 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1302:Spata31e5
|
UTSW |
1 |
28,815,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1394:Spata31e5
|
UTSW |
1 |
28,815,890 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1395:Spata31e5
|
UTSW |
1 |
28,815,890 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1514:Spata31e5
|
UTSW |
1 |
28,817,829 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1535:Spata31e5
|
UTSW |
1 |
28,816,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2004:Spata31e5
|
UTSW |
1 |
28,816,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2021:Spata31e5
|
UTSW |
1 |
28,817,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2022:Spata31e5
|
UTSW |
1 |
28,817,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3115:Spata31e5
|
UTSW |
1 |
28,815,410 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3615:Spata31e5
|
UTSW |
1 |
28,815,656 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3616:Spata31e5
|
UTSW |
1 |
28,815,656 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3862:Spata31e5
|
UTSW |
1 |
28,816,722 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4067:Spata31e5
|
UTSW |
1 |
28,816,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4119:Spata31e5
|
UTSW |
1 |
28,817,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4415:Spata31e5
|
UTSW |
1 |
28,816,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5010:Spata31e5
|
UTSW |
1 |
28,816,943 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5109:Spata31e5
|
UTSW |
1 |
28,816,636 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5122:Spata31e5
|
UTSW |
1 |
28,819,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5533:Spata31e5
|
UTSW |
1 |
28,817,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6085:Spata31e5
|
UTSW |
1 |
28,817,308 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6116:Spata31e5
|
UTSW |
1 |
28,817,780 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6750:Spata31e5
|
UTSW |
1 |
28,816,495 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6757:Spata31e5
|
UTSW |
1 |
28,819,191 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6774:Spata31e5
|
UTSW |
1 |
28,815,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7156:Spata31e5
|
UTSW |
1 |
28,815,848 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7365:Spata31e5
|
UTSW |
1 |
28,819,233 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7739:Spata31e5
|
UTSW |
1 |
28,816,689 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7996:Spata31e5
|
UTSW |
1 |
28,817,487 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8082:Spata31e5
|
UTSW |
1 |
28,816,579 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8281:Spata31e5
|
UTSW |
1 |
28,817,225 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8514:Spata31e5
|
UTSW |
1 |
28,817,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Spata31e5
|
UTSW |
1 |
28,816,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9042:Spata31e5
|
UTSW |
1 |
28,816,037 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9101:Spata31e5
|
UTSW |
1 |
28,815,740 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9106:Spata31e5
|
UTSW |
1 |
28,815,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9173:Spata31e5
|
UTSW |
1 |
28,816,430 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9596:Spata31e5
|
UTSW |
1 |
28,815,688 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9632:Spata31e5
|
UTSW |
1 |
28,817,120 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9656:Spata31e5
|
UTSW |
1 |
28,816,536 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9659:Spata31e5
|
UTSW |
1 |
28,816,536 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9661:Spata31e5
|
UTSW |
1 |
28,816,536 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9663:Spata31e5
|
UTSW |
1 |
28,816,536 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9710:Spata31e5
|
UTSW |
1 |
28,817,120 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Posted On |
2013-10-07 |
Incidental Mutation