Incidental Mutation 'R1398:Spata31e2'
| ID |
160208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31e2
|
| Ensembl Gene |
ENSMUSG00000073722 |
| Gene Name |
spermatogenesis associated 31 subfamily E member 2 |
| Synonyms |
4931408C20Rik |
| MMRRC Submission |
039460-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1398 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
26720895-26726541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 26724422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 253
(Q253K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097801]
|
| AlphaFold |
E9PWP9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097801
AA Change: Q253K
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: Q253K
| 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 |
0.1456 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.7%
|
| Validation Efficiency |
96% (75/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,547,511 (GRCm39) |
K288E |
probably damaging |
Het |
| Aldh3a2 |
T |
C |
11: 61,147,562 (GRCm39) |
|
probably null |
Het |
| Anks1b |
A |
G |
10: 89,885,891 (GRCm39) |
T196A |
probably damaging |
Het |
| Anks6 |
T |
A |
4: 47,044,926 (GRCm39) |
T327S |
possibly damaging |
Het |
| Bdh2 |
T |
C |
3: 135,001,057 (GRCm39) |
|
probably benign |
Het |
| C4b |
T |
A |
17: 34,949,693 (GRCm39) |
|
probably benign |
Het |
| Cacna2d1 |
G |
A |
5: 16,562,764 (GRCm39) |
V847I |
possibly damaging |
Het |
| Cadps |
G |
T |
14: 12,449,822 (GRCm38) |
T1129K |
probably damaging |
Het |
| Cdc45 |
A |
G |
16: 18,600,721 (GRCm39) |
|
probably benign |
Het |
| Cep63 |
A |
T |
9: 102,480,285 (GRCm39) |
|
probably benign |
Het |
| Chil4 |
T |
A |
3: 106,126,825 (GRCm39) |
|
probably null |
Het |
| Cnot11 |
A |
G |
1: 39,584,261 (GRCm39) |
R478G |
probably damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,627,069 (GRCm39) |
S254P |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 118,020,841 (GRCm39) |
K87* |
probably null |
Het |
| Dpy19l2 |
T |
A |
9: 24,492,559 (GRCm39) |
|
probably benign |
Het |
| Dsc1 |
A |
T |
18: 20,221,393 (GRCm39) |
I694N |
probably damaging |
Het |
| Ehd4 |
A |
T |
2: 119,958,081 (GRCm39) |
I168K |
probably benign |
Het |
| Eif4e |
A |
T |
3: 138,252,136 (GRCm39) |
N25Y |
probably damaging |
Het |
| Elapor2 |
A |
G |
5: 9,430,297 (GRCm39) |
Y69C |
probably damaging |
Het |
| Eme2 |
G |
A |
17: 25,111,892 (GRCm39) |
S263F |
probably damaging |
Het |
| Fgfrl1 |
T |
A |
5: 108,854,147 (GRCm39) |
|
probably benign |
Het |
| Fhip2a |
T |
A |
19: 57,361,358 (GRCm39) |
|
probably benign |
Het |
| Gm3159 |
T |
A |
14: 4,398,586 (GRCm38) |
Y92* |
probably null |
Het |
| Gm4922 |
T |
A |
10: 18,659,496 (GRCm39) |
S409C |
possibly damaging |
Het |
| Gmcl1 |
G |
A |
6: 86,691,244 (GRCm39) |
|
probably benign |
Het |
| Grsf1 |
A |
G |
5: 88,813,706 (GRCm39) |
Y231H |
probably benign |
Het |
| Heatr4 |
T |
A |
12: 84,014,395 (GRCm39) |
H614L |
possibly damaging |
Het |
| Hoxa13 |
C |
G |
6: 52,260,647 (GRCm38) |
|
probably benign |
Het |
| Hoxa13 |
G |
C |
6: 52,260,648 (GRCm38) |
|
probably benign |
Het |
| Isg20l2 |
C |
A |
3: 87,846,061 (GRCm39) |
L325I |
probably benign |
Het |
| Kalrn |
A |
G |
16: 34,033,190 (GRCm39) |
Y879H |
probably damaging |
Het |
| Kcnk10 |
C |
A |
12: 98,402,485 (GRCm39) |
W318L |
probably damaging |
Het |
| Kctd1 |
T |
C |
18: 15,195,654 (GRCm39) |
E323G |
possibly damaging |
Het |
| Kif4 |
G |
T |
X: 99,732,703 (GRCm39) |
A492S |
probably benign |
Het |
| Krtap4-1 |
T |
C |
11: 99,518,558 (GRCm39) |
T151A |
unknown |
Het |
| Ldlr |
A |
T |
9: 21,650,838 (GRCm39) |
Q449L |
probably benign |
Het |
| Lepr |
T |
A |
4: 101,649,216 (GRCm39) |
D872E |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,581,322 (GRCm39) |
|
probably benign |
Het |
| Lrig3 |
C |
T |
10: 125,838,957 (GRCm39) |
P488L |
probably benign |
Het |
| Lrrc4b |
A |
C |
7: 44,111,876 (GRCm39) |
I583L |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,915,121 (GRCm39) |
S3272P |
possibly damaging |
Het |
| Marchf2 |
T |
C |
17: 33,915,096 (GRCm39) |
H166R |
probably damaging |
Het |
| Mtbp |
C |
A |
15: 55,440,933 (GRCm39) |
Y373* |
probably null |
Het |
| Myh2 |
C |
T |
11: 67,076,113 (GRCm39) |
H767Y |
probably benign |
Het |
| Ncam1 |
G |
A |
9: 49,428,889 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
A |
2: 52,179,658 (GRCm39) |
N1282Y |
probably damaging |
Het |
| Nectin3 |
A |
G |
16: 46,269,119 (GRCm39) |
Y428H |
possibly damaging |
Het |
| Nrros |
A |
T |
16: 31,961,962 (GRCm39) |
I649N |
probably damaging |
Het |
| Nvl |
A |
T |
1: 180,924,691 (GRCm39) |
|
probably benign |
Het |
| Or5p70 |
T |
A |
7: 107,994,708 (GRCm39) |
V127E |
probably damaging |
Het |
| Pms1 |
A |
T |
1: 53,246,435 (GRCm39) |
V368E |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,882,857 (GRCm39) |
S1674T |
possibly damaging |
Het |
| Ppp1r21 |
T |
C |
17: 88,850,307 (GRCm39) |
V31A |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,697,579 (GRCm39) |
V692E |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,319,372 (GRCm39) |
|
probably null |
Het |
| Rps6kc1 |
T |
C |
1: 190,532,212 (GRCm39) |
I597V |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,977,658 (GRCm39) |
|
probably null |
Het |
| Scn9a |
A |
G |
2: 66,314,930 (GRCm39) |
M1587T |
probably benign |
Het |
| Sec31b |
T |
A |
19: 44,512,104 (GRCm39) |
I597F |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,636,268 (GRCm39) |
N650S |
unknown |
Het |
| Slc22a28 |
G |
T |
19: 8,107,566 (GRCm39) |
S167* |
probably null |
Het |
| Slfn1 |
T |
A |
11: 83,011,968 (GRCm39) |
M28K |
probably damaging |
Het |
| Smc6 |
T |
C |
12: 11,321,880 (GRCm39) |
|
probably benign |
Het |
| Sox8 |
T |
C |
17: 25,786,857 (GRCm39) |
H282R |
probably benign |
Het |
| Syngr3 |
C |
A |
17: 24,905,414 (GRCm39) |
V161L |
probably benign |
Het |
| Trak1 |
C |
T |
9: 121,283,425 (GRCm39) |
S397F |
probably damaging |
Het |
| Uso1 |
C |
T |
5: 92,329,327 (GRCm39) |
A405V |
probably benign |
Het |
| Uvrag |
G |
T |
7: 98,715,027 (GRCm39) |
Y190* |
probably null |
Het |
| Vps13d |
A |
T |
4: 144,826,553 (GRCm39) |
L1726Q |
probably null |
Het |
| Vwf |
A |
T |
6: 125,580,420 (GRCm39) |
Q556L |
probably benign |
Het |
| Wdr70 |
T |
A |
15: 8,065,325 (GRCm39) |
M246L |
probably benign |
Het |
| Yipf3 |
T |
C |
17: 46,562,372 (GRCm39) |
F285S |
probably damaging |
Het |
| Zdhhc13 |
G |
A |
7: 48,476,621 (GRCm39) |
G579R |
probably damaging |
Het |
| Zdhhc18 |
G |
C |
4: 133,354,608 (GRCm39) |
F125L |
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 |
|
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 |
|
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'- AAGTTCCCTGAAGCTGTGTCAGTTC -3'
(R):5'- CATGTGACCCTGTTCAAGCTCTACC -3'
Sequencing Primer
(F):5'- ACAGAATCTGACATGGGTTCC -3'
(R):5'- TCAAGCTCTACCTCTGGCTAAAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation