Incidental Mutation 'R0145:Spata31e2'
| ID |
69443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31e2
|
| Ensembl Gene |
ENSMUSG00000073722 |
| Gene Name |
spermatogenesis associated 31 subfamily E member 2 |
| Synonyms |
4931408C20Rik |
| MMRRC Submission |
038430-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0145 (G1)
of strain
722
|
| Quality Score |
153 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
26720895-26726541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26726413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 32
(M32T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097801]
|
| AlphaFold |
E9PWP9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097801
AA Change: M32T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: M32T
| 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 |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 93.7%
- 20x: 82.1%
|
| Validation Efficiency |
96% (109/113) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
G |
10: 100,437,783 (GRCm39) |
E64G |
probably damaging |
Het |
| Actr6 |
A |
T |
10: 89,564,040 (GRCm39) |
Y77* |
probably null |
Het |
| Aldoart1 |
A |
T |
4: 72,769,576 (GRCm39) |
S411T |
probably benign |
Het |
| Aqp1 |
C |
T |
6: 55,323,672 (GRCm39) |
R234C |
probably damaging |
Het |
| Arsb |
G |
A |
13: 93,998,795 (GRCm39) |
G368R |
possibly damaging |
Het |
| Asxl3 |
G |
A |
18: 22,586,662 (GRCm39) |
A151T |
probably damaging |
Het |
| Bcas3 |
T |
C |
11: 85,250,436 (GRCm39) |
|
probably benign |
Het |
| Bmpr2 |
AACACA |
AACA |
1: 59,906,739 (GRCm39) |
|
probably null |
Het |
| Bst1 |
A |
G |
5: 43,976,414 (GRCm39) |
Y49C |
probably damaging |
Het |
| Btrc |
T |
A |
19: 45,411,612 (GRCm39) |
L12Q |
probably damaging |
Het |
| Cd248 |
T |
C |
19: 5,119,051 (GRCm39) |
F300L |
possibly damaging |
Het |
| Cdk11b |
G |
T |
4: 155,726,076 (GRCm39) |
|
probably benign |
Het |
| Cfap410 |
T |
C |
10: 77,819,390 (GRCm39) |
S196P |
probably benign |
Het |
| Cfap44 |
A |
T |
16: 44,288,735 (GRCm39) |
D1495V |
probably damaging |
Het |
| Chil3 |
T |
A |
3: 106,067,794 (GRCm39) |
I124F |
probably damaging |
Het |
| Cnot2 |
A |
T |
10: 116,353,273 (GRCm39) |
S63T |
possibly damaging |
Het |
| Cox8a |
G |
T |
19: 7,192,783 (GRCm39) |
H61N |
probably benign |
Het |
| Cpne9 |
T |
C |
6: 113,277,562 (GRCm39) |
V427A |
probably damaging |
Het |
| Ctsll3 |
C |
A |
13: 60,946,409 (GRCm39) |
G301C |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,311,243 (GRCm39) |
D3094V |
probably damaging |
Het |
| Cyba |
A |
T |
8: 123,153,977 (GRCm39) |
M65K |
possibly damaging |
Het |
| Cyp4f39 |
T |
A |
17: 32,705,934 (GRCm39) |
S342T |
possibly damaging |
Het |
| Daam2 |
T |
C |
17: 49,787,806 (GRCm39) |
I436V |
probably benign |
Het |
| Daglb |
T |
C |
5: 143,460,363 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,262,338 (GRCm39) |
L2067R |
probably damaging |
Het |
| Ep300 |
T |
C |
15: 81,500,328 (GRCm39) |
|
probably null |
Het |
| Esm1 |
A |
G |
13: 113,353,230 (GRCm39) |
N171D |
probably damaging |
Het |
| Fbxl2 |
T |
C |
9: 113,814,393 (GRCm39) |
E266G |
probably damaging |
Het |
| Ficd |
G |
T |
5: 113,876,880 (GRCm39) |
A352S |
probably damaging |
Het |
| H2-Q2 |
A |
G |
17: 35,564,152 (GRCm39) |
D302G |
probably benign |
Het |
| Hacd3 |
A |
T |
9: 64,911,524 (GRCm39) |
|
probably benign |
Het |
| Kbtbd6 |
T |
A |
14: 79,690,464 (GRCm39) |
N386K |
probably benign |
Het |
| Lct |
T |
C |
1: 128,255,632 (GRCm39) |
M137V |
probably benign |
Het |
| Lilrb4b |
T |
G |
10: 51,360,614 (GRCm39) |
N176K |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,281,190 (GRCm39) |
H4340L |
probably damaging |
Het |
| Mcidas |
A |
G |
13: 113,130,906 (GRCm39) |
D77G |
probably damaging |
Het |
| Mmrn1 |
C |
A |
6: 60,949,994 (GRCm39) |
Q315K |
probably damaging |
Het |
| Mon2 |
C |
A |
10: 122,849,417 (GRCm39) |
L1294F |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,349,012 (GRCm39) |
T483A |
possibly damaging |
Het |
| Nacc1 |
T |
C |
8: 85,401,504 (GRCm39) |
|
probably benign |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Ngef |
A |
G |
1: 87,468,370 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
| Ogfod3 |
A |
T |
11: 121,085,896 (GRCm39) |
|
probably benign |
Het |
| Or6c8 |
A |
T |
10: 128,915,232 (GRCm39) |
V200E |
probably damaging |
Het |
| Or8i2 |
A |
C |
2: 86,852,134 (GRCm39) |
Y251* |
probably null |
Het |
| Parpbp |
T |
C |
10: 87,928,871 (GRCm39) |
Y523C |
possibly damaging |
Het |
| Pik3cg |
C |
A |
12: 32,254,321 (GRCm39) |
L555F |
probably benign |
Het |
| Pkp3 |
T |
G |
7: 140,669,676 (GRCm39) |
|
probably null |
Het |
| Pole |
G |
T |
5: 110,472,291 (GRCm39) |
R1518L |
probably damaging |
Het |
| Prkab1 |
T |
C |
5: 116,156,144 (GRCm39) |
|
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,374,796 (GRCm39) |
T1285A |
probably benign |
Het |
| Pus1 |
C |
A |
5: 110,922,720 (GRCm39) |
V222L |
probably benign |
Het |
| Rab11fip1 |
A |
G |
8: 27,633,352 (GRCm39) |
L1118P |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,315,868 (GRCm39) |
I2196N |
probably damaging |
Het |
| Rims3 |
T |
C |
4: 120,744,223 (GRCm39) |
L151P |
probably damaging |
Het |
| Rnf130 |
A |
G |
11: 49,962,046 (GRCm39) |
D164G |
possibly damaging |
Het |
| Rps6ka2 |
C |
A |
17: 7,529,585 (GRCm39) |
L293I |
probably benign |
Het |
| Ruvbl1 |
A |
G |
6: 88,461,441 (GRCm39) |
T269A |
possibly damaging |
Het |
| Sema4a |
A |
T |
3: 88,358,729 (GRCm39) |
I10N |
probably damaging |
Het |
| Serpinb6e |
A |
T |
13: 34,025,043 (GRCm39) |
S83T |
probably benign |
Het |
| Slc12a9 |
C |
A |
5: 137,313,550 (GRCm39) |
W803L |
probably damaging |
Het |
| Slc3a2 |
A |
G |
19: 8,685,437 (GRCm39) |
S188P |
probably damaging |
Het |
| Slc7a13 |
G |
A |
4: 19,818,782 (GRCm39) |
|
probably benign |
Het |
| Spart |
A |
T |
3: 55,035,092 (GRCm39) |
K493* |
probably null |
Het |
| Sun1 |
T |
C |
5: 139,227,166 (GRCm39) |
V574A |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,099,062 (GRCm39) |
V1603A |
probably benign |
Het |
| Tgm5 |
A |
G |
2: 120,908,062 (GRCm39) |
V38A |
possibly damaging |
Het |
| Tm6sf2 |
T |
C |
8: 70,530,518 (GRCm39) |
|
probably benign |
Het |
| Tnfaip2 |
T |
A |
12: 111,412,292 (GRCm39) |
V231E |
possibly damaging |
Het |
| Tube1 |
T |
A |
10: 39,021,598 (GRCm39) |
M281K |
possibly damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,707,561 (GRCm39) |
Y143H |
probably benign |
Het |
| Tyrp1 |
A |
G |
4: 80,759,015 (GRCm39) |
Y296C |
probably damaging |
Het |
| Utp4 |
A |
G |
8: 107,621,301 (GRCm39) |
N26S |
probably benign |
Het |
| Vgf |
T |
A |
5: 137,060,336 (GRCm39) |
|
probably benign |
Het |
| Zfat |
T |
C |
15: 68,058,948 (GRCm39) |
K196E |
possibly damaging |
Het |
| Zfp366 |
G |
T |
13: 99,366,048 (GRCm39) |
S403I |
probably damaging |
Het |
| Zfp462 |
G |
A |
4: 55,010,529 (GRCm39) |
G832R |
probably damaging |
Het |
| Zfp955a |
T |
A |
17: 33,461,430 (GRCm39) |
Q234L |
probably damaging |
Het |
| Zup1 |
T |
C |
10: 33,819,709 (GRCm39) |
T202A |
probably damaging |
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 |
|
R0158:Spata31e2
|
UTSW |
1 |
26,723,032 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
| Posted On |
2013-09-13 |
Incidental Mutation