Incidental Mutation 'IGL02125:Spata31e5'
ID |
280803 |
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: 0.066)
|
Stock # |
IGL02125
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
28815203-28819333 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28815419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 871
(N871S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058140
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059937]
|
AlphaFold |
E9Q8J5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059937
AA Change: N871S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000058140 Gene: ENSMUSG00000048411 AA Change: N871S
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
A |
T |
8: 56,324,974 (GRCm39) |
C493* |
probably null |
Het |
Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
Ankrd12 |
A |
G |
17: 66,277,139 (GRCm39) |
|
probably benign |
Het |
Anxa5 |
G |
A |
3: 36,506,413 (GRCm39) |
T213I |
probably damaging |
Het |
Baz2b |
A |
G |
2: 59,798,984 (GRCm39) |
L380S |
probably benign |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cacna2d2 |
C |
T |
9: 107,391,103 (GRCm39) |
Q411* |
probably null |
Het |
Cdh19 |
A |
G |
1: 110,857,614 (GRCm39) |
V240A |
possibly damaging |
Het |
Cltc |
A |
T |
11: 86,595,636 (GRCm39) |
|
probably benign |
Het |
Dclk3 |
T |
A |
9: 111,298,175 (GRCm39) |
V573E |
probably damaging |
Het |
Dhx29 |
T |
C |
13: 113,091,834 (GRCm39) |
|
probably benign |
Het |
Dip2b |
T |
C |
15: 100,084,131 (GRCm39) |
L918P |
possibly damaging |
Het |
Dzip3 |
A |
T |
16: 48,747,959 (GRCm39) |
N1150K |
probably damaging |
Het |
Fgf5 |
T |
C |
5: 98,402,391 (GRCm39) |
S41P |
possibly damaging |
Het |
Galc |
A |
T |
12: 98,197,768 (GRCm39) |
Y120N |
probably damaging |
Het |
Gldc |
T |
C |
19: 30,124,641 (GRCm39) |
N219S |
probably benign |
Het |
Gm11563 |
A |
T |
11: 99,549,631 (GRCm39) |
V41E |
unknown |
Het |
Gpatch11 |
T |
A |
17: 79,147,538 (GRCm39) |
N106K |
probably benign |
Het |
Gpx3 |
A |
G |
11: 54,798,068 (GRCm39) |
N68S |
probably damaging |
Het |
Ibtk |
T |
C |
9: 85,617,123 (GRCm39) |
N150D |
probably damaging |
Het |
Iglc2 |
G |
A |
16: 19,017,462 (GRCm39) |
P48S |
probably benign |
Het |
Itih5 |
G |
A |
2: 10,245,798 (GRCm39) |
R629H |
probably benign |
Het |
Kank1 |
T |
A |
19: 25,388,067 (GRCm39) |
V552E |
possibly damaging |
Het |
Kmt2a |
T |
A |
9: 44,759,983 (GRCm39) |
H655L |
probably damaging |
Het |
Mme |
A |
T |
3: 63,256,070 (GRCm39) |
N510I |
probably damaging |
Het |
Mrtfb |
A |
G |
16: 13,218,047 (GRCm39) |
|
probably null |
Het |
Obscn |
A |
G |
11: 58,913,188 (GRCm39) |
I6943T |
probably damaging |
Het |
Obscn |
G |
T |
11: 58,984,152 (GRCm39) |
Q1768K |
possibly damaging |
Het |
Or51k2 |
T |
A |
7: 103,596,279 (GRCm39) |
C169S |
probably damaging |
Het |
Or5ac25 |
T |
C |
16: 59,181,879 (GRCm39) |
N234S |
probably benign |
Het |
Otud3 |
A |
T |
4: 138,624,025 (GRCm39) |
|
probably null |
Het |
Parp4 |
A |
G |
14: 56,827,959 (GRCm39) |
K237E |
probably benign |
Het |
Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
Pttg1ip2 |
T |
C |
5: 5,500,644 (GRCm39) |
*151W |
probably null |
Het |
Rbbp6 |
T |
C |
7: 122,570,352 (GRCm39) |
|
probably null |
Het |
Rdh16 |
G |
T |
10: 127,647,188 (GRCm39) |
|
probably benign |
Het |
Ropn1 |
A |
G |
16: 34,487,147 (GRCm39) |
T28A |
probably benign |
Het |
Sec24d |
T |
C |
3: 123,152,607 (GRCm39) |
V873A |
probably damaging |
Het |
Serpinb3b |
T |
A |
1: 107,082,474 (GRCm39) |
L263F |
probably damaging |
Het |
Shq1 |
T |
C |
6: 100,607,967 (GRCm39) |
T315A |
probably benign |
Het |
Slc13a4 |
T |
C |
6: 35,255,223 (GRCm39) |
E355G |
probably benign |
Het |
Slc26a9 |
T |
C |
1: 131,687,175 (GRCm39) |
S445P |
probably damaging |
Het |
Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
Slc4a10 |
A |
T |
2: 62,098,515 (GRCm39) |
M550L |
probably benign |
Het |
Syt17 |
T |
C |
7: 118,009,197 (GRCm39) |
D341G |
probably benign |
Het |
Tmem62 |
A |
G |
2: 120,826,993 (GRCm39) |
Y430C |
probably benign |
Het |
Upp1 |
A |
G |
11: 9,075,650 (GRCm39) |
|
probably benign |
Het |
Vmn1r91 |
T |
G |
7: 19,835,429 (GRCm39) |
V116G |
probably damaging |
Het |
Vmn2r101 |
A |
T |
17: 19,809,963 (GRCm39) |
I250F |
possibly damaging |
Het |
Vmn2r116 |
T |
G |
17: 23,616,601 (GRCm39) |
|
probably benign |
Het |
Vmn2r72 |
C |
T |
7: 85,399,919 (GRCm39) |
V377I |
probably benign |
Het |
Zfp592 |
G |
T |
7: 80,687,932 (GRCm39) |
A953S |
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 |
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 |
2015-04-16 |