Incidental Mutation 'R3615:Spata31e5'
ID |
268414 |
Institutional Source |
Beutler Lab
|
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: 0.066)
|
Stock # |
R3615 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
28815203-28819333 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28815656 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 792
(D792G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058140
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059937]
|
AlphaFold |
E9Q8J5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059937
AA Change: D792G
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000058140 Gene: ENSMUSG00000048411 AA Change: D792G
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
98% (40/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,535,257 (GRCm39) |
T818A |
probably benign |
Het |
Aasdh |
A |
G |
5: 77,036,629 (GRCm39) |
V304A |
probably benign |
Het |
Angptl3 |
G |
A |
4: 98,922,702 (GRCm39) |
A248T |
probably benign |
Het |
Ap2b1 |
T |
A |
11: 83,215,391 (GRCm39) |
C112S |
possibly damaging |
Het |
Aqr |
A |
T |
2: 113,967,368 (GRCm39) |
I549N |
probably damaging |
Het |
Barhl1 |
C |
T |
2: 28,801,562 (GRCm39) |
D161N |
possibly damaging |
Het |
Col28a1 |
A |
G |
6: 8,014,942 (GRCm39) |
V821A |
probably damaging |
Het |
Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
Dnah1 |
A |
G |
14: 31,037,105 (GRCm39) |
L247P |
possibly damaging |
Het |
Dpysl2 |
T |
A |
14: 67,071,819 (GRCm39) |
H107L |
probably damaging |
Het |
Dzip3 |
A |
G |
16: 48,757,426 (GRCm39) |
L869S |
probably damaging |
Het |
Efs |
T |
C |
14: 55,157,552 (GRCm39) |
Y160C |
probably damaging |
Het |
Enam |
A |
T |
5: 88,652,306 (GRCm39) |
N1197Y |
possibly damaging |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fam184b |
A |
G |
5: 45,740,157 (GRCm39) |
V343A |
possibly damaging |
Het |
Fbxw26 |
A |
T |
9: 109,572,828 (GRCm39) |
Y105* |
probably null |
Het |
Fiz1 |
A |
G |
7: 5,011,171 (GRCm39) |
L449P |
probably benign |
Het |
Foxi2 |
T |
A |
7: 135,012,180 (GRCm39) |
C23S |
possibly damaging |
Het |
Gdf2 |
G |
A |
14: 33,666,914 (GRCm39) |
R212Q |
probably damaging |
Het |
Gm5105 |
C |
A |
3: 137,755,449 (GRCm39) |
A46S |
unknown |
Het |
Grik5 |
C |
T |
7: 24,721,996 (GRCm39) |
A581T |
probably benign |
Het |
Gse1 |
C |
G |
8: 121,299,481 (GRCm39) |
|
probably benign |
Het |
Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
Krt25 |
A |
C |
11: 99,208,124 (GRCm39) |
V368G |
possibly damaging |
Het |
Lacc1 |
A |
G |
14: 77,270,727 (GRCm39) |
V269A |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,126,896 (GRCm39) |
K417E |
probably damaging |
Het |
Miip |
A |
G |
4: 147,950,371 (GRCm39) |
M75T |
probably benign |
Het |
Nlrp10 |
A |
G |
7: 108,523,683 (GRCm39) |
F599S |
probably benign |
Het |
Nlrp12 |
T |
A |
7: 3,289,205 (GRCm39) |
M436L |
probably benign |
Het |
Or4b13 |
T |
C |
2: 90,082,753 (GRCm39) |
E193G |
possibly damaging |
Het |
Pafah1b1 |
G |
A |
11: 74,581,058 (GRCm39) |
S57F |
probably damaging |
Het |
Pla2g2e |
G |
A |
4: 138,607,685 (GRCm39) |
V22I |
probably benign |
Het |
Plekhd1 |
A |
G |
12: 80,764,044 (GRCm39) |
E202G |
probably damaging |
Het |
Prss21 |
A |
G |
17: 24,091,805 (GRCm39) |
T258A |
probably benign |
Het |
Prss34 |
A |
G |
17: 25,517,820 (GRCm39) |
E65G |
probably benign |
Het |
Psap |
A |
G |
10: 60,130,383 (GRCm39) |
N149S |
probably benign |
Het |
Ptprf |
C |
T |
4: 118,095,080 (GRCm39) |
A275T |
probably benign |
Het |
Sem1 |
A |
G |
6: 6,578,520 (GRCm39) |
L12P |
probably damaging |
Het |
Sf3b3 |
A |
G |
8: 111,571,155 (GRCm39) |
Y4H |
probably damaging |
Het |
Sh3bp4 |
G |
T |
1: 89,065,427 (GRCm39) |
R7L |
probably damaging |
Het |
Slc16a1 |
T |
A |
3: 104,560,886 (GRCm39) |
L397Q |
probably damaging |
Het |
Smg5 |
A |
G |
3: 88,243,758 (GRCm39) |
S10G |
possibly damaging |
Het |
Spata31g1 |
A |
G |
4: 42,971,864 (GRCm39) |
N399S |
probably benign |
Het |
Tas2r102 |
C |
T |
6: 132,739,781 (GRCm39) |
Q230* |
probably null |
Het |
Tdo2 |
A |
G |
3: 81,882,735 (GRCm39) |
Y13H |
possibly damaging |
Het |
Tmem231 |
C |
T |
8: 112,644,945 (GRCm39) |
R187H |
possibly damaging |
Het |
Tmem30b |
A |
G |
12: 73,592,353 (GRCm39) |
M254T |
probably damaging |
Het |
Trpm1 |
G |
A |
7: 63,893,318 (GRCm39) |
G1057R |
probably damaging |
Het |
Tusc3 |
A |
T |
8: 39,617,879 (GRCm39) |
K347N |
probably damaging |
Het |
Usp36 |
C |
T |
11: 118,167,585 (GRCm39) |
|
probably null |
Het |
Vash2 |
T |
C |
1: 190,702,616 (GRCm39) |
Y117C |
probably damaging |
Het |
Vrk2 |
A |
G |
11: 26,439,866 (GRCm39) |
I235T |
possibly damaging |
Het |
Wdr20 |
A |
G |
12: 110,760,373 (GRCm39) |
T420A |
probably benign |
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 |
|
IGL01296:Spata31e5
|
APN |
1 |
28,816,137 (GRCm39) |
missense |
probably benign |
0.23 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGAATCATTAGTGGACCACGG -3'
(R):5'- TGAGGAGCACAGTCAACATTTC -3'
Sequencing Primer
(F):5'- ATTAGTGGACCACGGCCCAC -3'
(R):5'- GGAGCACAGTCAACATTTCAAGTAC -3'
|
Posted On |
2015-02-19 |