Incidental Mutation 'R2055:Spata31e2'
| ID |
226558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31e2
|
| Ensembl Gene |
ENSMUSG00000073722 |
| Gene Name |
spermatogenesis associated 31 subfamily E member 2 |
| Synonyms |
4931408C20Rik |
| MMRRC Submission |
040060-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2055 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
26720895-26726541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26724813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 122
(N122K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097801]
|
| AlphaFold |
E9PWP9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097801
AA Change: N122K
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: N122K
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
C |
5: 138,561,107 (GRCm39) |
E185G |
probably damaging |
Het |
| 3425401B19Rik |
A |
G |
14: 32,384,508 (GRCm39) |
S486P |
probably benign |
Het |
| A630023A22Rik |
T |
C |
14: 33,774,707 (GRCm39) |
|
probably benign |
Het |
| Abca1 |
T |
C |
4: 53,069,881 (GRCm39) |
N1271S |
probably benign |
Het |
| AI597479 |
C |
T |
1: 43,150,280 (GRCm39) |
A130V |
probably benign |
Het |
| Angptl4 |
A |
G |
17: 33,999,498 (GRCm39) |
|
probably null |
Het |
| Arhgef25 |
T |
A |
10: 127,021,004 (GRCm39) |
N294I |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,850,421 (GRCm39) |
V848A |
probably damaging |
Het |
| Bard1 |
T |
C |
1: 71,114,031 (GRCm39) |
T317A |
probably benign |
Het |
| C1rl |
T |
C |
6: 124,470,781 (GRCm39) |
W30R |
probably benign |
Het |
| Cchcr1 |
A |
G |
17: 35,837,317 (GRCm39) |
E379G |
probably damaging |
Het |
| Cfap36 |
G |
T |
11: 29,197,122 (GRCm39) |
A3E |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,997 (GRCm39) |
G1031S |
probably damaging |
Het |
| Clca4a |
A |
G |
3: 144,676,489 (GRCm39) |
Y64H |
probably damaging |
Het |
| Cops5 |
A |
G |
1: 10,102,562 (GRCm39) |
|
probably null |
Het |
| Cracr2a |
G |
T |
6: 127,585,564 (GRCm39) |
E121* |
probably null |
Het |
| Cstf1 |
A |
G |
2: 172,222,403 (GRCm39) |
E387G |
probably benign |
Het |
| D630044L22Rik |
A |
C |
17: 26,180,951 (GRCm39) |
D733E |
probably damaging |
Het |
| Dlc1 |
A |
T |
8: 37,060,535 (GRCm39) |
C514S |
probably damaging |
Het |
| Dmwd |
G |
T |
7: 18,810,610 (GRCm39) |
R139L |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 117,958,357 (GRCm39) |
S2709T |
probably benign |
Het |
| Dnmt3a |
T |
C |
12: 3,922,859 (GRCm39) |
I154T |
probably benign |
Het |
| Dpp7 |
T |
C |
2: 25,244,490 (GRCm39) |
N297S |
possibly damaging |
Het |
| Ern2 |
A |
T |
7: 121,783,168 (GRCm39) |
V34D |
possibly damaging |
Het |
| Erp27 |
A |
G |
6: 136,885,227 (GRCm39) |
|
probably benign |
Het |
| F2 |
T |
C |
2: 91,458,787 (GRCm39) |
T508A |
probably benign |
Het |
| Fam181b |
A |
G |
7: 92,729,634 (GRCm39) |
T136A |
probably benign |
Het |
| Fam227b |
C |
A |
2: 125,942,874 (GRCm39) |
V308L |
probably benign |
Het |
| Fbxw20 |
A |
T |
9: 109,050,442 (GRCm39) |
H394Q |
probably damaging |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Glt8d1 |
T |
G |
14: 30,731,693 (GRCm39) |
S111A |
probably benign |
Het |
| Gm11146 |
A |
T |
16: 77,391,969 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
C |
T |
10: 119,885,416 (GRCm39) |
|
probably benign |
Het |
| H2-Q2 |
A |
T |
17: 35,564,247 (GRCm39) |
T334S |
probably benign |
Het |
| Hcrtr1 |
A |
G |
4: 130,024,680 (GRCm39) |
V402A |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,268,294 (GRCm39) |
A1130D |
probably benign |
Het |
| Hsd17b2 |
T |
C |
8: 118,428,913 (GRCm39) |
L60P |
possibly damaging |
Het |
| Htr1f |
A |
T |
16: 64,746,398 (GRCm39) |
I298N |
probably damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,315,095 (GRCm39) |
A775D |
probably benign |
Het |
| Kcnn3 |
A |
G |
3: 89,428,682 (GRCm39) |
T303A |
probably damaging |
Het |
| Kiz |
C |
A |
2: 146,733,203 (GRCm39) |
Q460K |
probably benign |
Het |
| Krt75 |
C |
T |
15: 101,481,196 (GRCm39) |
V193I |
probably benign |
Het |
| Lsp1 |
G |
A |
7: 142,043,144 (GRCm39) |
|
probably null |
Het |
| Mfsd12 |
A |
G |
10: 81,196,063 (GRCm39) |
H146R |
probably damaging |
Het |
| Mmp23 |
T |
C |
4: 155,736,444 (GRCm39) |
K199R |
possibly damaging |
Het |
| Naip2 |
A |
G |
13: 100,315,880 (GRCm39) |
V300A |
probably benign |
Het |
| Nbeal1 |
C |
T |
1: 60,350,216 (GRCm39) |
L2422F |
probably damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,464,375 (GRCm39) |
D1094E |
possibly damaging |
Het |
| Nckap5 |
T |
C |
1: 125,954,635 (GRCm39) |
E639G |
probably damaging |
Het |
| Nr4a3 |
A |
G |
4: 48,067,771 (GRCm39) |
I456V |
possibly damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,673 (GRCm39) |
F166S |
probably damaging |
Het |
| Parp9 |
G |
T |
16: 35,773,984 (GRCm39) |
V86L |
probably damaging |
Het |
| Phactr1 |
A |
G |
13: 43,231,416 (GRCm39) |
N386S |
probably damaging |
Het |
| Pold2 |
A |
T |
11: 5,823,516 (GRCm39) |
Y304* |
probably null |
Het |
| Pou5f2 |
A |
G |
13: 78,173,940 (GRCm39) |
Y294C |
probably benign |
Het |
| Rars1 |
A |
G |
11: 35,717,410 (GRCm39) |
|
probably benign |
Het |
| Rbm12b1 |
A |
G |
4: 12,145,606 (GRCm39) |
E526G |
probably benign |
Het |
| Sacs |
T |
C |
14: 61,451,498 (GRCm39) |
Y4515H |
probably damaging |
Het |
| Sdk2 |
C |
A |
11: 113,741,780 (GRCm39) |
R813L |
probably damaging |
Het |
| Six5 |
T |
C |
7: 18,829,154 (GRCm39) |
V198A |
possibly damaging |
Het |
| Slco1a7 |
A |
T |
6: 141,671,181 (GRCm39) |
H430Q |
probably benign |
Het |
| Spn |
A |
G |
7: 126,736,388 (GRCm39) |
S40P |
probably damaging |
Het |
| Ssr1 |
A |
G |
13: 38,171,761 (GRCm39) |
|
probably benign |
Het |
| Tlr6 |
C |
A |
5: 65,111,269 (GRCm39) |
C546F |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,544,748 (GRCm39) |
|
probably benign |
Het |
| Trhr2 |
A |
G |
8: 123,085,532 (GRCm39) |
S151P |
probably damaging |
Het |
| Tubb2b |
T |
G |
13: 34,311,708 (GRCm39) |
K362Q |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,643,832 (GRCm39) |
T1211A |
probably damaging |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,729 (GRCm39) |
V199A |
possibly damaging |
Het |
| Vnn1 |
A |
G |
10: 23,776,475 (GRCm39) |
|
probably benign |
Het |
| Vps41 |
T |
A |
13: 19,038,786 (GRCm39) |
N737K |
possibly damaging |
Het |
| Vps50 |
T |
A |
6: 3,522,265 (GRCm39) |
N144K |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,955,340 (GRCm39) |
N911K |
probably benign |
Het |
| Zkscan7 |
T |
A |
9: 122,718,002 (GRCm39) |
S132R |
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 |
|
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'- AACAGGGTCACATGCATCAG -3'
(R):5'- GGGACCCCAGCTCATATGTATTG -3'
Sequencing Primer
(F):5'- GGGTCACATGCATCAGTAAACCTG -3'
(R):5'- CTAATTGGCAGGTGGTACTGAG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation