Incidental Mutation 'R8905:Spata31e2'
| ID |
679993 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31e2
|
| Ensembl Gene |
ENSMUSG00000073722 |
| Gene Name |
spermatogenesis associated 31 subfamily E member 2 |
| Synonyms |
4931408C20Rik |
| MMRRC Submission |
068762-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8905 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
26720895-26726541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26721895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1095
(V1095A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097801]
|
| AlphaFold |
E9PWP9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097801
AA Change: V1095A
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: V1095A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (77/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
C |
4: 137,182,553 (GRCm39) |
V236A |
probably benign |
Het |
| Abca15 |
A |
T |
7: 119,960,771 (GRCm39) |
R744S |
probably benign |
Het |
| Adgra1 |
T |
C |
7: 139,455,763 (GRCm39) |
S464P |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,855,570 (GRCm39) |
V3A |
probably benign |
Het |
| AW554918 |
T |
A |
18: 25,473,206 (GRCm39) |
S134T |
probably damaging |
Het |
| Bmper |
A |
G |
9: 23,318,082 (GRCm39) |
E567G |
probably benign |
Het |
| C2cd3 |
T |
C |
7: 100,074,132 (GRCm39) |
|
probably null |
Het |
| Cars1 |
A |
G |
7: 143,140,196 (GRCm39) |
Y170H |
probably damaging |
Het |
| Celsr1 |
A |
T |
15: 85,788,269 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
C |
T |
9: 108,718,501 (GRCm39) |
H2351Y |
probably damaging |
Het |
| Cfap210 |
A |
G |
2: 69,612,104 (GRCm39) |
S175P |
probably benign |
Het |
| Clxn |
A |
G |
16: 14,738,275 (GRCm39) |
I147V |
possibly damaging |
Het |
| Cyp2d11 |
T |
C |
15: 82,275,102 (GRCm39) |
I282V |
probably benign |
Het |
| Dhfr |
A |
G |
13: 92,494,467 (GRCm39) |
T57A |
probably damaging |
Het |
| Dhrs7l |
T |
A |
12: 72,666,431 (GRCm39) |
D80V |
probably damaging |
Het |
| Dnah7b |
A |
C |
1: 46,292,534 (GRCm39) |
Q2973P |
probably damaging |
Het |
| Dnajc5b |
T |
C |
3: 19,633,184 (GRCm39) |
C136R |
probably benign |
Het |
| Ercc3 |
T |
G |
18: 32,398,771 (GRCm39) |
D683E |
possibly damaging |
Het |
| Faxc |
A |
G |
4: 21,982,398 (GRCm39) |
Y279C |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,872,634 (GRCm39) |
M191T |
possibly damaging |
Het |
| Fcgbp |
T |
A |
7: 27,785,934 (GRCm39) |
V457E |
probably damaging |
Het |
| Fip1l1 |
A |
T |
5: 74,756,624 (GRCm39) |
T539S |
probably damaging |
Het |
| Gabra1 |
T |
C |
11: 42,038,052 (GRCm39) |
T189A |
possibly damaging |
Het |
| Glg1 |
T |
C |
8: 111,884,668 (GRCm39) |
D1118G |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,901,116 (GRCm39) |
D1501G |
probably benign |
Het |
| Hacd1 |
A |
G |
2: 14,049,761 (GRCm39) |
I91T |
possibly damaging |
Het |
| Ift22 |
T |
C |
5: 136,941,745 (GRCm39) |
V159A |
probably benign |
Het |
| Igkv1-110 |
T |
A |
6: 68,248,070 (GRCm39) |
Y60N |
probably damaging |
Het |
| Inpp5d |
A |
G |
1: 87,637,348 (GRCm39) |
K502E |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,435,467 (GRCm39) |
Q478L |
possibly damaging |
Het |
| Mettl13 |
A |
G |
1: 162,364,847 (GRCm39) |
F511L |
probably damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,180,401 (GRCm39) |
|
probably null |
Het |
| Mrps30 |
A |
T |
13: 118,523,479 (GRCm39) |
S98T |
probably benign |
Het |
| Muc2 |
C |
T |
7: 141,279,643 (GRCm39) |
A209V |
probably benign |
Het |
| Nfs1 |
A |
T |
2: 155,970,503 (GRCm39) |
I270N |
probably damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Nsmaf |
A |
G |
4: 6,424,951 (GRCm39) |
S266P |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,960,784 (GRCm39) |
S3176P |
probably damaging |
Het |
| Or4c123 |
A |
T |
2: 89,126,801 (GRCm39) |
L271Q |
possibly damaging |
Het |
| Or7g12 |
A |
G |
9: 18,899,494 (GRCm39) |
D70G |
possibly damaging |
Het |
| P2ry12 |
T |
A |
3: 59,124,997 (GRCm39) |
Y226F |
probably damaging |
Het |
| Pabpc2 |
C |
A |
18: 39,907,704 (GRCm39) |
T323K |
probably benign |
Het |
| Pank2 |
A |
G |
2: 131,124,646 (GRCm39) |
D71G |
possibly damaging |
Het |
| Patj |
A |
T |
4: 98,385,412 (GRCm39) |
H393L |
probably damaging |
Het |
| Pde8b |
A |
G |
13: 95,182,993 (GRCm39) |
V255A |
probably damaging |
Het |
| Plekhs1 |
T |
C |
19: 56,471,028 (GRCm39) |
W374R |
probably damaging |
Het |
| Ppm1g |
T |
C |
5: 31,361,437 (GRCm39) |
D313G |
probably damaging |
Het |
| Rnf114 |
A |
G |
2: 167,353,134 (GRCm39) |
N135S |
probably benign |
Het |
| Rnf43 |
T |
G |
11: 87,621,951 (GRCm39) |
Y351D |
probably damaging |
Het |
| Robo1 |
A |
T |
16: 72,539,173 (GRCm39) |
D90V |
probably damaging |
Het |
| Sbds |
A |
G |
5: 130,277,125 (GRCm39) |
V172A |
possibly damaging |
Het |
| Scamp5 |
T |
A |
9: 57,352,669 (GRCm39) |
I167F |
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 4,994,364 (GRCm39) |
E386G |
probably damaging |
Het |
| Sfxn1 |
T |
A |
13: 54,246,433 (GRCm39) |
V159E |
probably damaging |
Het |
| Sgsm1 |
C |
T |
5: 113,421,495 (GRCm39) |
G531R |
probably benign |
Het |
| Slc22a26 |
T |
A |
19: 7,760,331 (GRCm39) |
I471F |
probably damaging |
Het |
| Slc41a3 |
T |
A |
6: 90,589,123 (GRCm39) |
M78K |
probably benign |
Het |
| Slc8a1 |
A |
T |
17: 81,749,084 (GRCm39) |
Y653N |
probably benign |
Het |
| Slco6c1 |
A |
T |
1: 97,053,391 (GRCm39) |
M170K |
possibly damaging |
Het |
| Smarca5 |
A |
T |
8: 81,440,577 (GRCm39) |
I629K |
probably benign |
Het |
| Smg7 |
T |
A |
1: 152,715,817 (GRCm39) |
D1099V |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,308,890 (GRCm39) |
I763V |
probably benign |
Het |
| Stk25 |
A |
G |
1: 93,556,929 (GRCm39) |
S30P |
probably damaging |
Het |
| Sv2b |
C |
T |
7: 74,767,459 (GRCm39) |
A646T |
probably benign |
Het |
| Tardbp |
T |
C |
4: 148,705,093 (GRCm39) |
M167V |
probably benign |
Het |
| Tmem132a |
T |
C |
19: 10,842,647 (GRCm39) |
N276S |
probably damaging |
Het |
| Ttpa |
T |
A |
4: 20,028,435 (GRCm39) |
S162T |
probably benign |
Het |
| Usp13 |
T |
C |
3: 32,935,572 (GRCm39) |
Y333H |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,166,695 (GRCm39) |
Y812F |
probably damaging |
Het |
| Yeats2 |
A |
G |
16: 20,009,144 (GRCm39) |
T463A |
probably benign |
Het |
| Zbtb26 |
T |
A |
2: 37,326,927 (GRCm39) |
K36N |
probably benign |
Het |
| Zfc3h1 |
A |
T |
10: 115,259,383 (GRCm39) |
T1652S |
probably benign |
Het |
| Zfp472 |
G |
A |
17: 33,197,455 (GRCm39) |
C510Y |
possibly damaging |
Het |
| Zfp518a |
C |
A |
19: 40,902,780 (GRCm39) |
T903K |
probably damaging |
Het |
| Zfp668 |
T |
C |
7: 127,465,598 (GRCm39) |
T529A |
probably benign |
Het |
| Zfp930 |
A |
G |
8: 69,681,351 (GRCm39) |
T349A |
possibly damaging |
Het |
| Zmiz2 |
T |
G |
11: 6,346,840 (GRCm39) |
Y182D |
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 |
|
R0145:Spata31e2
|
UTSW |
1 |
26,726,413 (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 |
|
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'- CAGGCTCTCTGGGCATTAAC -3'
(R):5'- TCGTGTGACCTAGGCCAAAG -3'
Sequencing Primer
(F):5'- AACATTGGGCTGTGATTCATCTC -3'
(R):5'- TGTGACCTAGGCCAAAGTAGAAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation