Incidental Mutation 'R6128:Spata31e2'
| ID |
487477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31e2
|
| Ensembl Gene |
ENSMUSG00000073722 |
| Gene Name |
spermatogenesis associated 31 subfamily E member 2 |
| Synonyms |
4931408C20Rik |
| MMRRC Submission |
044275-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6128 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
26720895-26726541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26724506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 225
(P225S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097801]
|
| AlphaFold |
E9PWP9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097801
AA Change: P225S
PolyPhen 2
Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: P225S
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| A430033K04Rik |
A |
G |
5: 138,646,038 (GRCm39) |
H641R |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Asah1 |
C |
T |
8: 41,807,092 (GRCm39) |
V111M |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,526,734 (GRCm39) |
L611P |
probably damaging |
Het |
| Atl2 |
C |
A |
17: 80,172,470 (GRCm39) |
|
probably null |
Het |
| Bhlhe22 |
A |
T |
3: 18,109,987 (GRCm39) |
S346C |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,776,313 (GRCm39) |
|
probably null |
Het |
| Bptf |
G |
T |
11: 106,965,516 (GRCm39) |
A1163D |
possibly damaging |
Het |
| Bub1b |
T |
A |
2: 118,448,293 (GRCm39) |
C382S |
probably benign |
Het |
| Carmil1 |
A |
T |
13: 24,197,177 (GRCm39) |
Y158* |
probably null |
Het |
| Ccdc175 |
A |
T |
12: 72,175,933 (GRCm39) |
I473K |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,311,625 (GRCm39) |
I444V |
possibly damaging |
Het |
| Cep131 |
T |
A |
11: 119,956,801 (GRCm39) |
I880F |
probably damaging |
Het |
| Ces2e |
T |
A |
8: 105,655,428 (GRCm39) |
I117N |
probably benign |
Het |
| Clk2 |
C |
T |
3: 89,081,531 (GRCm39) |
T289M |
probably damaging |
Het |
| Crocc2 |
A |
T |
1: 93,122,123 (GRCm39) |
D672V |
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,962,588 (GRCm39) |
I73N |
probably damaging |
Het |
| Cyp2d12 |
C |
A |
15: 82,443,166 (GRCm39) |
D358E |
probably benign |
Het |
| Cyp7a1 |
A |
G |
4: 6,272,788 (GRCm39) |
S142P |
possibly damaging |
Het |
| Daw1 |
T |
A |
1: 83,183,647 (GRCm39) |
C232* |
probably null |
Het |
| Dhx9 |
T |
C |
1: 153,353,835 (GRCm39) |
K195R |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dpp3 |
A |
G |
19: 4,972,420 (GRCm39) |
V168A |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 64,001,563 (GRCm39) |
V459A |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,243,493 (GRCm39) |
N38K |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,069,821 (GRCm39) |
|
probably null |
Het |
| Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
| Fdps |
T |
C |
3: 89,006,740 (GRCm39) |
E117G |
possibly damaging |
Het |
| Gbp4 |
A |
C |
5: 105,283,030 (GRCm39) |
V80G |
possibly damaging |
Het |
| Glt1d1 |
A |
T |
5: 127,754,335 (GRCm39) |
D179V |
probably damaging |
Het |
| Gtf2a1l |
T |
A |
17: 89,002,086 (GRCm39) |
V314E |
probably null |
Het |
| Gzmf |
G |
T |
14: 56,443,443 (GRCm39) |
Y178* |
probably null |
Het |
| Hira |
C |
T |
16: 18,751,727 (GRCm39) |
P509S |
probably benign |
Het |
| Ifi44 |
T |
C |
3: 151,454,823 (GRCm39) |
N134S |
probably benign |
Het |
| Igfbp2 |
T |
A |
1: 72,863,958 (GRCm39) |
C74S |
probably damaging |
Het |
| Il24 |
A |
G |
1: 130,813,435 (GRCm39) |
L54P |
probably damaging |
Het |
| Ints10 |
T |
C |
8: 69,274,904 (GRCm39) |
|
probably null |
Het |
| Ipo9 |
A |
G |
1: 135,318,311 (GRCm39) |
C700R |
possibly damaging |
Het |
| Kalrn |
T |
A |
16: 34,033,255 (GRCm39) |
Q469L |
probably damaging |
Het |
| Lrp1b |
T |
G |
2: 40,750,667 (GRCm39) |
I2966L |
probably benign |
Het |
| Lta |
C |
A |
17: 35,422,817 (GRCm39) |
V169L |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,933,964 (GRCm39) |
V3554A |
possibly damaging |
Het |
| Mobp |
A |
G |
9: 119,997,392 (GRCm39) |
|
probably benign |
Het |
| Myorg |
T |
A |
4: 41,498,445 (GRCm39) |
N395I |
probably damaging |
Het |
| Or10d1 |
C |
G |
9: 39,484,549 (GRCm39) |
R2T |
probably benign |
Het |
| Or4b1d |
A |
T |
2: 89,968,954 (GRCm39) |
C176* |
probably null |
Het |
| Or8c14-ps1 |
T |
C |
9: 38,101,299 (GRCm39) |
S93P |
probably benign |
Het |
| Pacs1 |
A |
T |
19: 5,202,400 (GRCm39) |
|
probably null |
Het |
| Phf21a |
G |
T |
2: 92,181,953 (GRCm39) |
|
probably null |
Het |
| Pick1 |
T |
A |
15: 79,123,896 (GRCm39) |
M89K |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,946,152 (GRCm39) |
D558G |
possibly damaging |
Het |
| Pnma8a |
A |
G |
7: 16,694,661 (GRCm39) |
D172G |
probably benign |
Het |
| Polr2a |
A |
C |
11: 69,627,803 (GRCm39) |
V1368G |
probably damaging |
Het |
| Pomt2 |
A |
G |
12: 87,158,109 (GRCm39) |
|
probably null |
Het |
| Pou2f1 |
T |
C |
1: 165,703,056 (GRCm39) |
|
probably benign |
Het |
| Rnf145 |
T |
C |
11: 44,446,018 (GRCm39) |
V284A |
probably damaging |
Het |
| Robo1 |
A |
T |
16: 72,809,956 (GRCm39) |
M1235L |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,784,639 (GRCm39) |
|
probably null |
Het |
| Scamp1 |
A |
C |
13: 94,344,735 (GRCm39) |
L202R |
possibly damaging |
Het |
| Snx25 |
C |
T |
8: 46,558,240 (GRCm39) |
V110I |
probably benign |
Het |
| Susd6 |
T |
A |
12: 80,915,388 (GRCm39) |
H124Q |
possibly damaging |
Het |
| Tarm1 |
T |
C |
7: 3,537,720 (GRCm39) |
T248A |
probably benign |
Het |
| Tc2n |
A |
G |
12: 101,675,748 (GRCm39) |
M1T |
probably null |
Het |
| Tcerg1 |
C |
A |
18: 42,644,563 (GRCm39) |
|
probably null |
Het |
| Ticrr |
C |
A |
7: 79,343,716 (GRCm39) |
P1194T |
probably damaging |
Het |
| Trim31 |
T |
G |
17: 37,220,491 (GRCm39) |
V469G |
probably benign |
Het |
| Vcp |
T |
C |
4: 42,980,941 (GRCm39) |
E723G |
probably benign |
Het |
| Vmn1r177 |
C |
A |
7: 23,565,267 (GRCm39) |
S203I |
probably damaging |
Het |
| Vmn1r177 |
T |
A |
7: 23,565,268 (GRCm39) |
S203C |
probably damaging |
Het |
| Vmn1r210 |
A |
T |
13: 23,012,277 (GRCm39) |
L3* |
probably null |
Het |
| Wdr27 |
T |
A |
17: 15,152,796 (GRCm39) |
R104* |
probably null |
Het |
| Wnk1 |
A |
C |
6: 119,940,747 (GRCm39) |
|
probably null |
Het |
| Zfp157 |
A |
G |
5: 138,453,281 (GRCm39) |
E88G |
possibly damaging |
Het |
| Zfp708 |
A |
T |
13: 67,222,965 (GRCm39) |
L22Q |
probably damaging |
Het |
| Zfp788 |
T |
C |
7: 41,299,785 (GRCm39) |
F787S |
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 |
|
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'- GATAGTTTTAACAGGCAGGGTGC -3'
(R):5'- AATCCTCCTCAGGGCATAAATCTG -3'
Sequencing Primer
(F):5'- CTAATGGCTGCTTGACAATTTTGGAC -3'
(R):5'- TCCTCAGGGCATAAATCTGTCAGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation