Incidental Mutation 'R0158:Spata31e2'
ID |
22946 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31e2
|
Ensembl Gene |
ENSMUSG00000073722 |
Gene Name |
spermatogenesis associated 31 subfamily E member 2 |
Synonyms |
4931408C20Rik |
MMRRC Submission |
038438-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0158 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
26720895-26726541 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 26723032 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Proline
at position 716
(H716P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095410
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097801]
|
AlphaFold |
E9PWP9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097801
AA Change: H716P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000095410 Gene: ENSMUSG00000073722 AA Change: H716P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
Pfam:FAM75
|
128 |
474 |
4.6e-28 |
PFAM |
internal_repeat_1
|
939 |
1112 |
4.27e-16 |
PROSPERO |
internal_repeat_1
|
1204 |
1376 |
4.27e-16 |
PROSPERO |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 89.1%
|
Validation Efficiency |
93% (79/85) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
C |
T |
16: 20,371,316 (GRCm39) |
R437C |
probably damaging |
Het |
Abhd3 |
A |
G |
18: 10,647,840 (GRCm39) |
Y315H |
possibly damaging |
Het |
Adam19 |
C |
T |
11: 46,033,861 (GRCm39) |
P891L |
probably damaging |
Het |
Ampd1 |
T |
A |
3: 102,999,046 (GRCm39) |
Y400* |
probably null |
Het |
Ap1g1 |
T |
C |
8: 110,582,267 (GRCm39) |
S724P |
probably benign |
Het |
Bst2 |
T |
A |
8: 71,989,861 (GRCm39) |
T71S |
possibly damaging |
Het |
C3 |
A |
G |
17: 57,531,851 (GRCm39) |
|
probably null |
Het |
Cacna2d1 |
C |
A |
5: 16,566,815 (GRCm39) |
|
probably benign |
Het |
Cacna2d4 |
C |
T |
6: 119,213,709 (GRCm39) |
H43Y |
possibly damaging |
Het |
Ccdc71 |
T |
G |
9: 108,341,336 (GRCm39) |
V383G |
probably benign |
Het |
Cd109 |
A |
T |
9: 78,596,214 (GRCm39) |
Q849L |
possibly damaging |
Het |
Cdkn2a |
A |
T |
4: 89,195,004 (GRCm39) |
H115Q |
possibly damaging |
Het |
Ces1e |
T |
C |
8: 93,946,057 (GRCm39) |
E161G |
probably benign |
Het |
Cggbp1 |
C |
T |
16: 64,676,201 (GRCm39) |
S89L |
possibly damaging |
Het |
Crocc |
A |
T |
4: 140,769,553 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
T |
A |
13: 113,505,687 (GRCm39) |
L2272* |
probably null |
Het |
Eef1akmt3 |
G |
A |
10: 126,869,142 (GRCm39) |
Q111* |
probably null |
Het |
Exoc7 |
T |
C |
11: 116,186,118 (GRCm39) |
N361S |
probably benign |
Het |
Fat2 |
G |
T |
11: 55,187,011 (GRCm39) |
S1278R |
probably benign |
Het |
Fbxo42 |
A |
G |
4: 140,927,640 (GRCm39) |
N640S |
probably benign |
Het |
Fbxw25 |
A |
G |
9: 109,483,720 (GRCm39) |
V164A |
possibly damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,854,917 (GRCm39) |
I1848V |
probably damaging |
Het |
Foxs1 |
T |
C |
2: 152,774,330 (GRCm39) |
E241G |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,924,493 (GRCm39) |
I3645F |
possibly damaging |
Het |
Gm14496 |
T |
A |
2: 181,639,206 (GRCm39) |
V432E |
probably benign |
Het |
H3c2 |
T |
A |
13: 23,936,693 (GRCm39) |
C111S |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,403,203 (GRCm39) |
L4374* |
probably null |
Het |
Ift122 |
T |
C |
6: 115,901,445 (GRCm39) |
|
probably benign |
Het |
Itgav |
C |
A |
2: 83,622,381 (GRCm39) |
N654K |
probably benign |
Het |
Itih5 |
T |
C |
2: 10,239,803 (GRCm39) |
|
probably benign |
Het |
Jak2 |
C |
A |
19: 29,289,157 (GRCm39) |
T1103K |
probably benign |
Het |
Kcnc4 |
C |
A |
3: 107,365,920 (GRCm39) |
C96F |
probably benign |
Het |
Med13l |
C |
A |
5: 118,880,514 (GRCm39) |
S1202Y |
unknown |
Het |
Mefv |
T |
C |
16: 3,533,320 (GRCm39) |
E317G |
possibly damaging |
Het |
Ncoa2 |
T |
C |
1: 13,222,608 (GRCm39) |
T1226A |
probably benign |
Het |
Nktr |
C |
T |
9: 121,579,757 (GRCm39) |
|
probably benign |
Het |
Nudt5 |
G |
A |
2: 5,867,114 (GRCm39) |
V61M |
probably damaging |
Het |
Or51a39 |
C |
T |
7: 102,363,162 (GRCm39) |
A153T |
probably benign |
Het |
Pakap |
A |
G |
4: 57,709,649 (GRCm39) |
D198G |
possibly damaging |
Het |
Pcdhb2 |
A |
C |
18: 37,430,283 (GRCm39) |
Y752S |
probably damaging |
Het |
Pcnx4 |
A |
G |
12: 72,603,076 (GRCm39) |
D446G |
probably benign |
Het |
Pnp2 |
G |
A |
14: 51,201,761 (GRCm39) |
R249H |
probably damaging |
Het |
Rgs3 |
A |
T |
4: 62,542,121 (GRCm39) |
I32F |
probably damaging |
Het |
Rnf139 |
A |
G |
15: 58,770,727 (GRCm39) |
T251A |
probably benign |
Het |
Rnf41 |
A |
G |
10: 128,274,104 (GRCm39) |
E252G |
probably damaging |
Het |
Rxfp2 |
T |
A |
5: 149,975,093 (GRCm39) |
F220Y |
probably benign |
Het |
Sdcbp |
A |
G |
4: 6,379,042 (GRCm39) |
D43G |
possibly damaging |
Het |
Serpina3f |
A |
G |
12: 104,183,267 (GRCm39) |
D43G |
probably damaging |
Het |
Sftpc |
T |
C |
14: 70,758,887 (GRCm39) |
K154R |
probably null |
Het |
Simc1 |
A |
G |
13: 54,672,530 (GRCm39) |
T293A |
probably benign |
Het |
Skint6 |
A |
T |
4: 113,042,011 (GRCm39) |
|
probably benign |
Het |
Slc6a15 |
T |
C |
10: 103,225,208 (GRCm39) |
|
probably benign |
Het |
Ston2 |
A |
T |
12: 91,707,376 (GRCm39) |
I78N |
probably damaging |
Het |
Taok3 |
T |
C |
5: 117,355,307 (GRCm39) |
|
probably null |
Het |
Tent4b |
G |
A |
8: 88,977,371 (GRCm39) |
G391D |
probably damaging |
Het |
Tiam1 |
C |
T |
16: 89,589,889 (GRCm39) |
|
probably benign |
Het |
Tnfsf15 |
T |
C |
4: 63,648,229 (GRCm39) |
H137R |
possibly damaging |
Het |
Tpte |
G |
A |
8: 22,817,755 (GRCm39) |
R247H |
possibly damaging |
Het |
Trim2 |
T |
C |
3: 84,117,476 (GRCm39) |
|
probably benign |
Het |
Ulk1 |
A |
T |
5: 110,936,810 (GRCm39) |
|
probably benign |
Het |
Utp4 |
T |
G |
8: 107,640,018 (GRCm39) |
H442Q |
probably null |
Het |
Vmn1r193 |
T |
A |
13: 22,403,798 (GRCm39) |
I65F |
probably damaging |
Het |
Vps54 |
A |
T |
11: 21,256,962 (GRCm39) |
Q690L |
probably damaging |
Het |
Ybx2 |
T |
C |
11: 69,831,145 (GRCm39) |
|
probably benign |
Het |
Zbtb38 |
C |
T |
9: 96,568,993 (GRCm39) |
G697D |
possibly damaging |
Het |
Zfp202 |
C |
T |
9: 40,120,212 (GRCm39) |
Q218* |
probably null |
Het |
Zfp820 |
G |
A |
17: 22,038,800 (GRCm39) |
T176I |
probably benign |
Het |
|
Other mutations in Spata31e2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00540:Spata31e2
|
APN |
1 |
26,724,058 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00575:Spata31e2
|
APN |
1 |
26,722,013 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL00656:Spata31e2
|
APN |
1 |
26,721,982 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL00671:Spata31e2
|
APN |
1 |
26,723,940 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL00777:Spata31e2
|
APN |
1 |
26,721,173 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00824:Spata31e2
|
APN |
1 |
26,722,670 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL01018:Spata31e2
|
APN |
1 |
26,721,991 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01148:Spata31e2
|
APN |
1 |
26,724,253 (GRCm39) |
missense |
probably benign |
0.22 |
IGL01631:Spata31e2
|
APN |
1 |
26,724,495 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01901:Spata31e2
|
APN |
1 |
26,721,665 (GRCm39) |
missense |
probably benign |
0.13 |
IGL01957:Spata31e2
|
APN |
1 |
26,724,340 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02031:Spata31e2
|
APN |
1 |
26,724,104 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02596:Spata31e2
|
APN |
1 |
26,723,083 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4486001:Spata31e2
|
UTSW |
1 |
26,724,410 (GRCm39) |
missense |
probably damaging |
0.99 |
R0026:Spata31e2
|
UTSW |
1 |
26,722,450 (GRCm39) |
missense |
probably benign |
0.00 |
R0026:Spata31e2
|
UTSW |
1 |
26,722,450 (GRCm39) |
missense |
probably benign |
0.00 |
R0043:Spata31e2
|
UTSW |
1 |
26,722,883 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0141:Spata31e2
|
UTSW |
1 |
26,722,863 (GRCm39) |
missense |
probably benign |
0.00 |
R0145:Spata31e2
|
UTSW |
1 |
26,726,413 (GRCm39) |
missense |
probably benign |
0.00 |
R0325:Spata31e2
|
UTSW |
1 |
26,724,347 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0627:Spata31e2
|
UTSW |
1 |
26,724,970 (GRCm39) |
missense |
probably benign |
0.00 |
R0733:Spata31e2
|
UTSW |
1 |
26,722,013 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1033:Spata31e2
|
UTSW |
1 |
26,721,466 (GRCm39) |
missense |
probably benign |
|
R1074:Spata31e2
|
UTSW |
1 |
26,722,307 (GRCm39) |
missense |
probably benign |
0.00 |
R1108:Spata31e2
|
UTSW |
1 |
26,721,547 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1139:Spata31e2
|
UTSW |
1 |
26,721,746 (GRCm39) |
missense |
probably benign |
0.04 |
R1326:Spata31e2
|
UTSW |
1 |
26,723,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R1398:Spata31e2
|
UTSW |
1 |
26,724,422 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1422:Spata31e2
|
UTSW |
1 |
26,721,547 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1463:Spata31e2
|
UTSW |
1 |
26,721,222 (GRCm39) |
nonsense |
probably null |
|
R1485:Spata31e2
|
UTSW |
1 |
26,724,961 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1568:Spata31e2
|
UTSW |
1 |
26,724,950 (GRCm39) |
missense |
probably benign |
0.01 |
R1603:Spata31e2
|
UTSW |
1 |
26,724,650 (GRCm39) |
missense |
probably damaging |
0.99 |
R1605:Spata31e2
|
UTSW |
1 |
26,723,511 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1795:Spata31e2
|
UTSW |
1 |
26,722,070 (GRCm39) |
nonsense |
probably null |
|
R1945:Spata31e2
|
UTSW |
1 |
26,721,395 (GRCm39) |
missense |
probably benign |
0.04 |
R1967:Spata31e2
|
UTSW |
1 |
26,722,454 (GRCm39) |
missense |
probably benign |
0.02 |
R2055:Spata31e2
|
UTSW |
1 |
26,724,813 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2093:Spata31e2
|
UTSW |
1 |
26,721,222 (GRCm39) |
nonsense |
probably null |
|
R2131:Spata31e2
|
UTSW |
1 |
26,724,935 (GRCm39) |
missense |
probably benign |
0.11 |
R2237:Spata31e2
|
UTSW |
1 |
26,724,241 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2314:Spata31e2
|
UTSW |
1 |
26,723,783 (GRCm39) |
missense |
probably benign |
0.00 |
R2407:Spata31e2
|
UTSW |
1 |
26,721,919 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2993:Spata31e2
|
UTSW |
1 |
26,724,909 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4245:Spata31e2
|
UTSW |
1 |
26,721,161 (GRCm39) |
missense |
probably benign |
0.00 |
R4567:Spata31e2
|
UTSW |
1 |
26,722,198 (GRCm39) |
missense |
probably benign |
|
R4605:Spata31e2
|
UTSW |
1 |
26,722,267 (GRCm39) |
missense |
probably benign |
0.45 |
R4708:Spata31e2
|
UTSW |
1 |
26,723,521 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4827:Spata31e2
|
UTSW |
1 |
26,724,923 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4839:Spata31e2
|
UTSW |
1 |
26,724,440 (GRCm39) |
missense |
probably benign |
0.11 |
R4888:Spata31e2
|
UTSW |
1 |
26,722,628 (GRCm39) |
missense |
probably benign |
0.00 |
R5075:Spata31e2
|
UTSW |
1 |
26,722,133 (GRCm39) |
missense |
probably damaging |
0.99 |
R5101:Spata31e2
|
UTSW |
1 |
26,722,417 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5231:Spata31e2
|
UTSW |
1 |
26,723,032 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5310:Spata31e2
|
UTSW |
1 |
26,724,169 (GRCm39) |
missense |
probably benign |
0.00 |
R5459:Spata31e2
|
UTSW |
1 |
26,724,272 (GRCm39) |
missense |
probably damaging |
0.96 |
R5520:Spata31e2
|
UTSW |
1 |
26,724,900 (GRCm39) |
missense |
probably benign |
0.00 |
R5608:Spata31e2
|
UTSW |
1 |
26,722,129 (GRCm39) |
missense |
probably damaging |
0.97 |
R5960:Spata31e2
|
UTSW |
1 |
26,722,225 (GRCm39) |
missense |
probably benign |
0.34 |
R6128:Spata31e2
|
UTSW |
1 |
26,724,506 (GRCm39) |
missense |
probably benign |
0.38 |
R6188:Spata31e2
|
UTSW |
1 |
26,724,784 (GRCm39) |
missense |
probably damaging |
0.99 |
R6319:Spata31e2
|
UTSW |
1 |
26,724,482 (GRCm39) |
missense |
probably benign |
0.38 |
R6339:Spata31e2
|
UTSW |
1 |
26,721,586 (GRCm39) |
missense |
probably benign |
0.01 |
R6431:Spata31e2
|
UTSW |
1 |
26,723,111 (GRCm39) |
missense |
probably benign |
0.11 |
R6456:Spata31e2
|
UTSW |
1 |
26,724,250 (GRCm39) |
missense |
probably damaging |
0.99 |
R6562:Spata31e2
|
UTSW |
1 |
26,721,443 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6645:Spata31e2
|
UTSW |
1 |
26,722,198 (GRCm39) |
missense |
probably benign |
0.06 |
R6647:Spata31e2
|
UTSW |
1 |
26,721,659 (GRCm39) |
missense |
probably damaging |
0.99 |
R6919:Spata31e2
|
UTSW |
1 |
26,722,015 (GRCm39) |
missense |
probably benign |
0.15 |
R7085:Spata31e2
|
UTSW |
1 |
26,722,546 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7183:Spata31e2
|
UTSW |
1 |
26,721,914 (GRCm39) |
missense |
probably benign |
0.27 |
R7347:Spata31e2
|
UTSW |
1 |
26,723,548 (GRCm39) |
missense |
probably benign |
0.02 |
R7488:Spata31e2
|
UTSW |
1 |
26,723,039 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7565:Spata31e2
|
UTSW |
1 |
26,724,351 (GRCm39) |
missense |
probably benign |
0.00 |
R7726:Spata31e2
|
UTSW |
1 |
26,723,579 (GRCm39) |
missense |
probably benign |
0.08 |
R8258:Spata31e2
|
UTSW |
1 |
26,721,562 (GRCm39) |
missense |
probably benign |
0.28 |
R8259:Spata31e2
|
UTSW |
1 |
26,721,562 (GRCm39) |
missense |
probably benign |
0.28 |
R8701:Spata31e2
|
UTSW |
1 |
26,724,526 (GRCm39) |
missense |
probably benign |
0.21 |
R8905:Spata31e2
|
UTSW |
1 |
26,721,895 (GRCm39) |
missense |
probably damaging |
0.97 |
R9137:Spata31e2
|
UTSW |
1 |
26,724,715 (GRCm39) |
missense |
probably benign |
0.13 |
R9138:Spata31e2
|
UTSW |
1 |
26,721,253 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9170:Spata31e2
|
UTSW |
1 |
26,723,485 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9287:Spata31e2
|
UTSW |
1 |
26,722,426 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9331:Spata31e2
|
UTSW |
1 |
26,722,790 (GRCm39) |
missense |
probably benign |
0.00 |
R9535:Spata31e2
|
UTSW |
1 |
26,721,232 (GRCm39) |
nonsense |
probably null |
|
R9719:Spata31e2
|
UTSW |
1 |
26,722,820 (GRCm39) |
missense |
probably benign |
0.02 |
X0025:Spata31e2
|
UTSW |
1 |
26,721,586 (GRCm39) |
missense |
probably benign |
0.00 |
X0061:Spata31e2
|
UTSW |
1 |
26,721,650 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGAACTTATAGCAGGAGCCTCCC -3'
(R):5'- CACCCTGGAAGCAGTCTGAAGATG -3'
Sequencing Primer
(F):5'- TCGGGATAGAAGGACTTACTCTCC -3'
(R):5'- GCAGTCTGAAGATGTACCCTC -3'
|
Posted On |
2013-04-16 |