Incidental Mutation 'R7726:Spata31e2'
| ID |
595470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31e2
|
| Ensembl Gene |
ENSMUSG00000073722 |
| Gene Name |
spermatogenesis associated 31 subfamily E member 2 |
| Synonyms |
4931408C20Rik |
| MMRRC Submission |
045782-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7726 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
26720895-26726541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 26723579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 534
(A534S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097801]
|
| AlphaFold |
E9PWP9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097801
AA Change: A534S
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: A534S
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
G |
8: 44,104,208 (GRCm39) |
N479T |
probably damaging |
Het |
| Add3 |
C |
G |
19: 53,227,892 (GRCm39) |
L526V |
probably damaging |
Het |
| Alas1 |
T |
C |
9: 106,124,150 (GRCm39) |
T3A |
probably benign |
Het |
| Arap3 |
C |
T |
18: 38,122,520 (GRCm39) |
D579N |
probably damaging |
Het |
| Armc6 |
C |
A |
8: 70,675,248 (GRCm39) |
D326Y |
probably damaging |
Het |
| Atp6v1e2 |
G |
A |
17: 87,251,813 (GRCm39) |
T195I |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,690,504 (GRCm39) |
E904G |
probably damaging |
Het |
| Bhlhe40 |
T |
A |
6: 108,639,559 (GRCm39) |
D112E |
probably benign |
Het |
| Brf1 |
T |
G |
12: 112,927,865 (GRCm39) |
K438T |
probably benign |
Het |
| Cabs1 |
A |
T |
5: 88,128,145 (GRCm39) |
E265D |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,429,071 (GRCm39) |
M1937L |
probably benign |
Het |
| Cd55b |
A |
T |
1: 130,339,230 (GRCm39) |
S299R |
possibly damaging |
Het |
| Chordc1 |
A |
G |
9: 18,213,510 (GRCm39) |
*120W |
probably null |
Het |
| Col17a1 |
C |
A |
19: 47,643,629 (GRCm39) |
|
probably null |
Het |
| Cpne8 |
A |
T |
15: 90,385,621 (GRCm39) |
I469K |
possibly damaging |
Het |
| Crtac1 |
G |
T |
19: 42,290,690 (GRCm39) |
S337* |
probably null |
Het |
| Cx3cl1 |
T |
C |
8: 95,506,867 (GRCm39) |
S291P |
probably damaging |
Het |
| Dhx36 |
G |
T |
3: 62,396,389 (GRCm39) |
Q423K |
probably benign |
Het |
| Eif3h |
G |
T |
15: 51,650,219 (GRCm39) |
Q322K |
possibly damaging |
Het |
| Ero1b |
A |
G |
13: 12,620,722 (GRCm39) |
*494W |
probably null |
Het |
| Exph5 |
G |
A |
9: 53,284,475 (GRCm39) |
V519I |
possibly damaging |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Fam222b |
A |
G |
11: 78,044,577 (GRCm39) |
D46G |
probably damaging |
Het |
| Fbxl6 |
C |
A |
15: 76,420,086 (GRCm39) |
R509L |
probably damaging |
Het |
| Fgf14 |
T |
C |
14: 124,373,656 (GRCm39) |
Y86C |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,860,310 (GRCm39) |
I2119F |
probably benign |
Het |
| Gpr37 |
G |
A |
6: 25,669,116 (GRCm39) |
T576I |
possibly damaging |
Het |
| Hnrnpul2 |
G |
T |
19: 8,808,644 (GRCm39) |
R702L |
possibly damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,407,204 (GRCm39) |
N342S |
probably benign |
Het |
| Kcnh6 |
T |
C |
11: 105,908,401 (GRCm39) |
V339A |
probably benign |
Het |
| Klk1b9 |
A |
T |
7: 43,627,840 (GRCm39) |
N46I |
possibly damaging |
Het |
| Kndc1 |
C |
A |
7: 139,519,751 (GRCm39) |
S1703R |
possibly damaging |
Het |
| Lyn |
C |
A |
4: 3,756,428 (GRCm39) |
Y306* |
probably null |
Het |
| Manba |
C |
T |
3: 135,223,770 (GRCm39) |
T219M |
probably benign |
Het |
| Mastl |
T |
C |
2: 23,030,807 (GRCm39) |
|
probably null |
Het |
| Med15 |
T |
G |
16: 17,473,038 (GRCm39) |
M550L |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,312 (GRCm39) |
|
probably null |
Het |
| Msh4 |
C |
T |
3: 153,571,957 (GRCm39) |
|
probably null |
Het |
| Myh6 |
G |
T |
14: 55,202,822 (GRCm39) |
D32E |
probably damaging |
Het |
| Ntmt2 |
A |
G |
1: 163,530,753 (GRCm39) |
C229R |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,569,544 (GRCm39) |
D419G |
possibly damaging |
Het |
| Nup155 |
C |
T |
15: 8,151,623 (GRCm39) |
P393S |
probably damaging |
Het |
| Or2y1d |
T |
A |
11: 49,321,727 (GRCm39) |
C141* |
probably null |
Het |
| Or6b2b |
A |
T |
1: 92,419,029 (GRCm39) |
F149L |
probably benign |
Het |
| Pakap |
C |
T |
4: 57,709,876 (GRCm39) |
P274S |
probably damaging |
Het |
| Papss2 |
A |
T |
19: 32,611,403 (GRCm39) |
|
probably null |
Het |
| Pcdhgc3 |
T |
C |
18: 37,939,932 (GRCm39) |
V111A |
possibly damaging |
Het |
| Pcnx2 |
C |
T |
8: 126,577,069 (GRCm39) |
V988I |
probably benign |
Het |
| Pom121 |
C |
T |
5: 135,407,002 (GRCm39) |
G1178S |
probably damaging |
Het |
| Prss33 |
A |
G |
17: 24,053,203 (GRCm39) |
C213R |
probably damaging |
Het |
| Scap |
G |
A |
9: 110,207,435 (GRCm39) |
|
probably null |
Het |
| Shfl |
T |
C |
9: 20,784,461 (GRCm39) |
Y182H |
possibly damaging |
Het |
| Sirpb1c |
T |
A |
3: 15,902,550 (GRCm39) |
I10F |
possibly damaging |
Het |
| Slc28a2b |
A |
G |
2: 122,317,214 (GRCm39) |
E25G |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,096,419 (GRCm39) |
L16P |
probably damaging |
Het |
| Sting1 |
C |
T |
18: 35,868,318 (GRCm39) |
A261T |
probably damaging |
Het |
| Stk4 |
T |
G |
2: 163,952,146 (GRCm39) |
M1R |
probably null |
Het |
| Stub1 |
A |
T |
17: 26,050,106 (GRCm39) |
Y253* |
probably null |
Het |
| Tasor |
C |
A |
14: 27,169,454 (GRCm39) |
N338K |
probably damaging |
Het |
| Tbce |
A |
G |
13: 14,203,875 (GRCm39) |
V29A |
probably damaging |
Het |
| Tchhl1 |
A |
G |
3: 93,379,065 (GRCm39) |
R590G |
probably benign |
Het |
| Ubr4 |
C |
T |
4: 139,186,231 (GRCm39) |
P613L |
unknown |
Het |
| Vmn2r3 |
G |
T |
3: 64,182,939 (GRCm39) |
C253* |
probably null |
Het |
| Wfdc8 |
C |
A |
2: 164,441,906 (GRCm39) |
E215D |
possibly damaging |
Het |
| Zfp874b |
T |
C |
13: 67,621,975 (GRCm39) |
D441G |
probably benign |
Het |
| Zscan4d |
G |
T |
7: 10,899,169 (GRCm39) |
P36Q |
possibly 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 |
|
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'- GCACTCAAGCAGGAATGTCC -3'
(R):5'- GTAGAAGGAGATTACTCGGTGTTTC -3'
Sequencing Primer
(F):5'- ATGTCCTGAGGGTACATCTTCAGAC -3'
(R):5'- ACTCGGTGTTTCCAAGGC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation