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: 0.059)
|
| Stock # |
IGL02125
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
28776117-28780252 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28776338 bp (GRCm38)
|
| 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: 55,871,939 (GRCm38) |
C493* |
probably null |
Het |
| Aldh16a1 |
G |
A |
7: 45,146,035 (GRCm38) |
P400L |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 65,970,144 (GRCm38) |
|
probably benign |
Het |
| Anxa5 |
G |
A |
3: 36,452,264 (GRCm38) |
T213I |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,968,640 (GRCm38) |
L380S |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,602,727 (GRCm38) |
S899N |
probably damaging |
Het |
| Cacna2d2 |
C |
T |
9: 107,513,904 (GRCm38) |
Q411* |
probably null |
Het |
| Cdh19 |
A |
G |
1: 110,929,884 (GRCm38) |
V240A |
possibly damaging |
Het |
| Cltc |
A |
T |
11: 86,704,810 (GRCm38) |
|
probably benign |
Het |
| Dclk3 |
T |
A |
9: 111,469,107 (GRCm38) |
V573E |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 112,955,300 (GRCm38) |
|
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,186,250 (GRCm38) |
L918P |
possibly damaging |
Het |
| Dzip3 |
A |
T |
16: 48,927,596 (GRCm38) |
N1150K |
probably damaging |
Het |
| Fgf5 |
T |
C |
5: 98,254,532 (GRCm38) |
S41P |
possibly damaging |
Het |
| Galc |
A |
T |
12: 98,231,509 (GRCm38) |
Y120N |
probably damaging |
Het |
| Gldc |
T |
C |
19: 30,147,241 (GRCm38) |
N219S |
probably benign |
Het |
| Gm11563 |
A |
T |
11: 99,658,805 (GRCm38) |
V41E |
unknown |
Het |
| Gpatch11 |
T |
A |
17: 78,840,109 (GRCm38) |
N106K |
probably benign |
Het |
| Gpx3 |
A |
G |
11: 54,907,242 (GRCm38) |
N68S |
probably damaging |
Het |
| Ibtk |
T |
C |
9: 85,735,070 (GRCm38) |
N150D |
probably damaging |
Het |
| Iglc2 |
G |
A |
16: 19,198,712 (GRCm38) |
P48S |
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,240,987 (GRCm38) |
R629H |
probably benign |
Het |
| Kank1 |
T |
A |
19: 25,410,703 (GRCm38) |
V552E |
possibly damaging |
Het |
| Kmt2a |
T |
A |
9: 44,848,686 (GRCm38) |
H655L |
probably damaging |
Het |
| Mme |
A |
T |
3: 63,348,649 (GRCm38) |
N510I |
probably damaging |
Het |
| Mrtfb |
A |
G |
16: 13,400,183 (GRCm38) |
|
probably null |
Het |
| Obscn |
G |
T |
11: 59,093,326 (GRCm38) |
Q1768K |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 59,022,362 (GRCm38) |
I6943T |
probably damaging |
Het |
| Or51k2 |
T |
A |
7: 103,947,072 (GRCm38) |
C169S |
probably damaging |
Het |
| Or5ac25 |
T |
C |
16: 59,361,516 (GRCm38) |
N234S |
probably benign |
Het |
| Otud3 |
A |
T |
4: 138,896,714 (GRCm38) |
|
probably null |
Het |
| Parp4 |
A |
G |
14: 56,590,502 (GRCm38) |
K237E |
probably benign |
Het |
| Pfkfb4 |
C |
T |
9: 109,025,110 (GRCm38) |
R351W |
probably damaging |
Het |
| Pttg1ip2 |
T |
C |
5: 5,450,644 (GRCm38) |
*151W |
probably null |
Het |
| Rbbp6 |
T |
C |
7: 122,971,129 (GRCm38) |
|
probably null |
Het |
| Rdh16 |
G |
T |
10: 127,811,319 (GRCm38) |
|
probably benign |
Het |
| Ropn1 |
A |
G |
16: 34,666,777 (GRCm38) |
T28A |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,358,958 (GRCm38) |
V873A |
probably damaging |
Het |
| Serpinb3b |
T |
A |
1: 107,154,744 (GRCm38) |
L263F |
probably damaging |
Het |
| Shq1 |
T |
C |
6: 100,631,006 (GRCm38) |
T315A |
probably benign |
Het |
| Slc13a4 |
T |
C |
6: 35,278,288 (GRCm38) |
E355G |
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,759,437 (GRCm38) |
S445P |
probably damaging |
Het |
| Slc39a10 |
G |
A |
1: 46,818,128 (GRCm38) |
A696V |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,268,171 (GRCm38) |
M550L |
probably benign |
Het |
| Syt17 |
T |
C |
7: 118,409,974 (GRCm38) |
D341G |
probably benign |
Het |
| Tmem62 |
A |
G |
2: 120,996,512 (GRCm38) |
Y430C |
probably benign |
Het |
| Upp1 |
A |
G |
11: 9,125,650 (GRCm38) |
|
probably benign |
Het |
| Vmn1r91 |
T |
G |
7: 20,101,504 (GRCm38) |
V116G |
probably damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,589,701 (GRCm38) |
I250F |
possibly damaging |
Het |
| Vmn2r116 |
T |
G |
17: 23,397,627 (GRCm38) |
|
probably benign |
Het |
| Vmn2r72 |
C |
T |
7: 85,750,711 (GRCm38) |
V377I |
probably benign |
Het |
| Zfp592 |
G |
T |
7: 81,038,184 (GRCm38) |
A953S |
probably benign |
Het |
|
| Other mutations in Spata31e5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00740:Spata31e5
|
APN |
1 |
28,778,651 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL00885:Spata31e5
|
APN |
1 |
28,776,845 (GRCm38) |
missense |
unknown |
|
|
IGL01296:Spata31e5
|
APN |
1 |
28,777,056 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL01476:Spata31e5
|
APN |
1 |
28,777,453 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02410:Spata31e5
|
APN |
1 |
28,778,631 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL02982:Spata31e5
|
APN |
1 |
28,778,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03031:Spata31e5
|
APN |
1 |
28,778,583 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03267:Spata31e5
|
APN |
1 |
28,777,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0294:Spata31e5
|
UTSW |
1 |
28,778,663 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0433:Spata31e5
|
UTSW |
1 |
28,777,342 (GRCm38) |
nonsense |
probably null |
|
|
R0485:Spata31e5
|
UTSW |
1 |
28,778,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0645:Spata31e5
|
UTSW |
1 |
28,776,930 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0744:Spata31e5
|
UTSW |
1 |
28,777,821 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R0836:Spata31e5
|
UTSW |
1 |
28,777,821 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1036:Spata31e5
|
UTSW |
1 |
28,777,802 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1302:Spata31e5
|
UTSW |
1 |
28,776,340 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1394:Spata31e5
|
UTSW |
1 |
28,776,809 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1395:Spata31e5
|
UTSW |
1 |
28,776,809 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1514:Spata31e5
|
UTSW |
1 |
28,778,748 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1535:Spata31e5
|
UTSW |
1 |
28,777,424 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2004:Spata31e5
|
UTSW |
1 |
28,777,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2021:Spata31e5
|
UTSW |
1 |
28,778,153 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2022:Spata31e5
|
UTSW |
1 |
28,778,153 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3115:Spata31e5
|
UTSW |
1 |
28,776,329 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R3615:Spata31e5
|
UTSW |
1 |
28,776,575 (GRCm38) |
missense |
probably benign |
0.26 |
|
R3616:Spata31e5
|
UTSW |
1 |
28,776,575 (GRCm38) |
missense |
probably benign |
0.26 |
|
R3862:Spata31e5
|
UTSW |
1 |
28,777,641 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4067:Spata31e5
|
UTSW |
1 |
28,777,631 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4119:Spata31e5
|
UTSW |
1 |
28,777,973 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4415:Spata31e5
|
UTSW |
1 |
28,777,133 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5010:Spata31e5
|
UTSW |
1 |
28,777,862 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R5109:Spata31e5
|
UTSW |
1 |
28,777,555 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R5122:Spata31e5
|
UTSW |
1 |
28,780,060 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5533:Spata31e5
|
UTSW |
1 |
28,778,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6085:Spata31e5
|
UTSW |
1 |
28,778,227 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R6116:Spata31e5
|
UTSW |
1 |
28,778,699 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6750:Spata31e5
|
UTSW |
1 |
28,777,414 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6757:Spata31e5
|
UTSW |
1 |
28,780,110 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6774:Spata31e5
|
UTSW |
1 |
28,776,893 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7156:Spata31e5
|
UTSW |
1 |
28,776,767 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7365:Spata31e5
|
UTSW |
1 |
28,780,152 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7739:Spata31e5
|
UTSW |
1 |
28,777,608 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7996:Spata31e5
|
UTSW |
1 |
28,778,406 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8082:Spata31e5
|
UTSW |
1 |
28,777,498 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8281:Spata31e5
|
UTSW |
1 |
28,778,144 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8514:Spata31e5
|
UTSW |
1 |
28,778,505 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8944:Spata31e5
|
UTSW |
1 |
28,777,074 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9042:Spata31e5
|
UTSW |
1 |
28,776,956 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R9101:Spata31e5
|
UTSW |
1 |
28,776,659 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9106:Spata31e5
|
UTSW |
1 |
28,776,894 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9173:Spata31e5
|
UTSW |
1 |
28,777,349 (GRCm38) |
missense |
probably benign |
0.22 |
|
R9596:Spata31e5
|
UTSW |
1 |
28,776,607 (GRCm38) |
missense |
probably benign |
0.07 |
|
R9632:Spata31e5
|
UTSW |
1 |
28,778,039 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9656:Spata31e5
|
UTSW |
1 |
28,777,455 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9659:Spata31e5
|
UTSW |
1 |
28,777,455 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9661:Spata31e5
|
UTSW |
1 |
28,777,455 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9663:Spata31e5
|
UTSW |
1 |
28,777,455 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9710:Spata31e5
|
UTSW |
1 |
28,778,039 (GRCm38) |
missense |
probably benign |
0.20 |
|
| Posted On |
2015-04-16 |
Incidental Mutation