Incidental Mutation 'R5010:Spata31e5'
ID |
390405 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31e5
|
Ensembl Gene |
ENSMUSG00000048411 |
Gene Name |
spermatogenesis associated 31 subfamily E member 5 |
Synonyms |
Gm597, LOC210962 |
MMRRC Submission |
042601-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R5010 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
28815203-28819333 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 28816943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 363
(I363T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058140
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059937]
|
AlphaFold |
E9Q8J5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059937
AA Change: I363T
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000058140 Gene: ENSMUSG00000048411 AA Change: I363T
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
98% (65/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810065E05Rik |
C |
T |
11: 58,313,630 (GRCm39) |
A86V |
possibly damaging |
Het |
9430097D07Rik |
A |
G |
2: 32,464,440 (GRCm39) |
|
probably benign |
Het |
Actr5 |
T |
A |
2: 158,477,283 (GRCm39) |
D411E |
probably benign |
Het |
Ang5 |
A |
G |
14: 44,200,302 (GRCm39) |
D122G |
probably benign |
Het |
Atg9a |
A |
T |
1: 75,162,704 (GRCm39) |
|
probably null |
Het |
Cracd |
G |
C |
5: 76,805,681 (GRCm39) |
|
probably benign |
Het |
Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
Ddx11 |
G |
A |
17: 66,454,717 (GRCm39) |
V642M |
possibly damaging |
Het |
Dis3l2 |
G |
A |
1: 86,688,043 (GRCm39) |
V100I |
probably benign |
Het |
Echdc2 |
T |
C |
4: 108,029,328 (GRCm39) |
V111A |
probably benign |
Het |
Egr1 |
A |
G |
18: 34,996,711 (GRCm39) |
T498A |
probably benign |
Het |
Exosc3 |
T |
C |
4: 45,317,702 (GRCm39) |
K200R |
possibly damaging |
Het |
Exosc8 |
T |
C |
3: 54,636,644 (GRCm39) |
D229G |
probably benign |
Het |
Ext1 |
T |
A |
15: 52,955,808 (GRCm39) |
I430F |
probably damaging |
Het |
Fbxw22 |
T |
C |
9: 109,232,492 (GRCm39) |
N31S |
probably benign |
Het |
Gja8 |
T |
C |
3: 96,827,165 (GRCm39) |
T166A |
probably benign |
Het |
Gm21814 |
T |
A |
6: 149,485,116 (GRCm39) |
|
noncoding transcript |
Het |
Gm21915 |
T |
A |
9: 40,581,944 (GRCm39) |
H12Q |
probably benign |
Het |
Hgsnat |
G |
A |
8: 26,437,988 (GRCm39) |
R527* |
probably null |
Het |
Iqgap2 |
A |
G |
13: 95,810,251 (GRCm39) |
F731S |
probably benign |
Het |
Jchain |
T |
C |
5: 88,670,364 (GRCm39) |
H85R |
probably damaging |
Het |
Kcnb2 |
T |
C |
1: 15,383,186 (GRCm39) |
C171R |
probably benign |
Het |
Kcnk3 |
C |
A |
5: 30,780,149 (GRCm39) |
R400S |
possibly damaging |
Het |
Klhl28 |
C |
T |
12: 65,004,001 (GRCm39) |
E171K |
probably damaging |
Het |
Lrrfip2 |
T |
C |
9: 111,053,040 (GRCm39) |
I375T |
possibly damaging |
Het |
Mccc1 |
T |
C |
3: 36,033,166 (GRCm39) |
N326S |
probably benign |
Het |
Med13l |
T |
C |
5: 118,731,615 (GRCm39) |
V97A |
possibly damaging |
Het |
Mertk |
C |
A |
2: 128,625,920 (GRCm39) |
T685K |
probably benign |
Het |
Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
Myom2 |
G |
A |
8: 15,133,310 (GRCm39) |
V401M |
probably damaging |
Het |
Nme5 |
A |
C |
18: 34,711,738 (GRCm39) |
M1R |
probably null |
Het |
Nop2 |
T |
C |
6: 125,110,726 (GRCm39) |
S68P |
probably benign |
Het |
Notch1 |
A |
T |
2: 26,366,126 (GRCm39) |
D809E |
possibly damaging |
Het |
Or14c39 |
T |
C |
7: 86,343,793 (GRCm39) |
I43T |
possibly damaging |
Het |
Ppat |
C |
T |
5: 77,076,525 (GRCm39) |
|
probably benign |
Het |
Prss23 |
T |
A |
7: 89,159,422 (GRCm39) |
M216L |
probably benign |
Het |
Psg18 |
A |
T |
7: 18,083,279 (GRCm39) |
V171D |
probably damaging |
Het |
Psg28 |
A |
G |
7: 18,161,816 (GRCm39) |
V229A |
probably damaging |
Het |
Qser1 |
T |
C |
2: 104,618,176 (GRCm39) |
N879D |
possibly damaging |
Het |
Rpap1 |
T |
C |
2: 119,600,522 (GRCm39) |
N879S |
probably benign |
Het |
Rusc2 |
T |
C |
4: 43,415,926 (GRCm39) |
S411P |
probably damaging |
Het |
Rxfp2 |
T |
A |
5: 149,990,825 (GRCm39) |
W519R |
probably damaging |
Het |
Scpep1 |
T |
A |
11: 88,832,175 (GRCm39) |
Q185L |
probably benign |
Het |
Serpinb11 |
A |
G |
1: 107,307,379 (GRCm39) |
N270S |
probably benign |
Het |
Serpinb6d |
T |
A |
13: 33,855,427 (GRCm39) |
M367K |
probably benign |
Het |
Skint10 |
T |
G |
4: 112,584,869 (GRCm39) |
I213L |
probably benign |
Het |
Skint5 |
T |
C |
4: 113,403,734 (GRCm39) |
T1163A |
unknown |
Het |
Slamf9 |
A |
T |
1: 172,303,780 (GRCm39) |
I42L |
possibly damaging |
Het |
Slc1a3 |
T |
C |
15: 8,680,330 (GRCm39) |
|
probably benign |
Het |
Smad6 |
T |
A |
9: 63,861,182 (GRCm39) |
Q371L |
possibly damaging |
Het |
Snx31 |
A |
T |
15: 36,555,469 (GRCm39) |
V26E |
probably damaging |
Het |
Taf4b |
A |
G |
18: 14,955,229 (GRCm39) |
N594S |
possibly damaging |
Het |
Tanc2 |
T |
C |
11: 105,670,918 (GRCm39) |
S172P |
probably damaging |
Het |
Tas2r110 |
T |
A |
6: 132,845,438 (GRCm39) |
Y156* |
probably null |
Het |
Tbc1d20 |
G |
A |
2: 152,135,856 (GRCm39) |
|
probably benign |
Het |
Timm50 |
A |
T |
7: 28,006,284 (GRCm39) |
D272E |
probably benign |
Het |
Ttn |
T |
G |
2: 76,730,855 (GRCm39) |
|
probably benign |
Het |
Vps13c |
T |
A |
9: 67,823,661 (GRCm39) |
F1362I |
probably benign |
Het |
Vwf |
T |
C |
6: 125,543,220 (GRCm39) |
S154P |
probably benign |
Het |
Zfp445 |
T |
C |
9: 122,681,410 (GRCm39) |
R844G |
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 |
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 |
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'- TCTTAGTGGACAGCATGTCTCTC -3'
(R):5'- GTCTACCATCATGAGGACCCAC -3'
Sequencing Primer
(F):5'- GGAAGGTTTTCAAGTTCCAGACCC -3'
(R):5'- TCATGAGGACCCACAGCAGG -3'
|
Posted On |
2016-06-06 |