Incidental Mutation 'R5171:Spata31e4'
ID |
398741 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31e4
|
Ensembl Gene |
ENSMUSG00000094918 |
Gene Name |
spermatogenesis associated 31 subfamily E member 4 |
Synonyms |
Gm8765 |
MMRRC Submission |
042751-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R5171 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
50852348-50857471 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 50854414 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 91
(T91S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099518]
|
AlphaFold |
B7ZWJ3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099518
AA Change: T91S
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000097118 Gene: ENSMUSG00000094918 AA Change: T91S
Domain | Start | End | E-Value | Type |
low complexity region
|
69 |
82 |
N/A |
INTRINSIC |
Pfam:FAM75
|
95 |
418 |
1.1e-15 |
PFAM |
SCOP:d1i5pa1
|
811 |
874 |
9e-3 |
SMART |
|
Meta Mutation Damage Score |
0.3138 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
C |
A |
1: 130,670,584 (GRCm39) |
Q269K |
probably benign |
Het |
Acad9 |
T |
A |
3: 36,128,547 (GRCm39) |
I136N |
possibly damaging |
Het |
Adtrp |
A |
G |
13: 41,931,039 (GRCm39) |
S183P |
probably damaging |
Het |
Atp11b |
C |
T |
3: 35,887,086 (GRCm39) |
T690I |
probably damaging |
Het |
Bcl2l12 |
G |
A |
7: 44,640,818 (GRCm39) |
|
probably benign |
Het |
Btnl7-ps |
T |
A |
17: 34,752,503 (GRCm39) |
|
noncoding transcript |
Het |
Ccl12 |
T |
C |
11: 81,993,460 (GRCm39) |
C33R |
probably damaging |
Het |
Cdc25a |
T |
A |
9: 109,706,229 (GRCm39) |
S57R |
probably benign |
Het |
Coro2a |
T |
A |
4: 46,542,372 (GRCm39) |
|
probably benign |
Het |
Cpne6 |
T |
C |
14: 55,749,605 (GRCm39) |
V55A |
possibly damaging |
Het |
Ddn |
A |
G |
15: 98,704,207 (GRCm39) |
S362P |
possibly damaging |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Donson |
A |
G |
16: 91,478,181 (GRCm39) |
V258A |
possibly damaging |
Het |
Gm3336 |
G |
A |
8: 71,174,524 (GRCm39) |
V163I |
probably benign |
Het |
Gper1 |
C |
T |
5: 139,412,413 (GRCm39) |
R253C |
probably damaging |
Het |
Gpsm1 |
T |
A |
2: 26,217,476 (GRCm39) |
|
probably benign |
Het |
Hip1 |
A |
G |
5: 135,469,156 (GRCm39) |
S251P |
probably damaging |
Het |
Ifi214 |
A |
G |
1: 173,354,200 (GRCm39) |
S157P |
possibly damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,937,907 (GRCm39) |
V1535A |
probably benign |
Het |
Mbd3l1 |
A |
G |
9: 18,396,430 (GRCm39) |
N185S |
probably benign |
Het |
Mnx1 |
T |
C |
5: 29,679,851 (GRCm39) |
Q252R |
unknown |
Het |
Mroh3 |
A |
T |
1: 136,119,394 (GRCm39) |
L463Q |
possibly damaging |
Het |
Myom1 |
T |
C |
17: 71,406,967 (GRCm39) |
V1030A |
possibly damaging |
Het |
Or3a1d |
T |
C |
11: 74,237,640 (GRCm39) |
T257A |
probably benign |
Het |
Or5ak20 |
T |
C |
2: 85,184,114 (GRCm39) |
D52G |
probably benign |
Het |
Or5w1 |
T |
G |
2: 87,486,888 (GRCm39) |
I126L |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Ranbp17 |
A |
G |
11: 33,167,419 (GRCm39) |
Y1015H |
probably benign |
Het |
Rasal1 |
C |
T |
5: 120,801,829 (GRCm39) |
T256I |
probably benign |
Het |
Rexo5 |
T |
A |
7: 119,423,002 (GRCm39) |
I278N |
probably damaging |
Het |
Rims2 |
T |
A |
15: 39,300,499 (GRCm39) |
S77T |
probably damaging |
Het |
Sdk2 |
C |
T |
11: 113,741,808 (GRCm39) |
A804T |
probably benign |
Het |
Slc24a2 |
T |
A |
4: 86,914,871 (GRCm39) |
I589F |
probably benign |
Het |
Slc25a38 |
T |
A |
9: 119,951,181 (GRCm39) |
I217K |
probably benign |
Het |
Slc5a7 |
T |
C |
17: 54,583,704 (GRCm39) |
T529A |
probably benign |
Het |
Spata22 |
T |
A |
11: 73,227,034 (GRCm39) |
S83T |
probably damaging |
Het |
Stac2 |
A |
T |
11: 97,934,324 (GRCm39) |
C127S |
possibly damaging |
Het |
Tep1 |
T |
C |
14: 51,062,259 (GRCm39) |
H2531R |
probably benign |
Het |
Tmem151a |
G |
T |
19: 5,132,061 (GRCm39) |
R382S |
probably damaging |
Het |
Trim60 |
T |
C |
8: 65,453,176 (GRCm39) |
T358A |
probably benign |
Het |
Unc13c |
T |
A |
9: 73,665,236 (GRCm39) |
M1048L |
probably benign |
Het |
Usp29 |
T |
C |
7: 6,965,074 (GRCm39) |
S306P |
probably damaging |
Het |
Zfp26 |
T |
C |
9: 20,356,203 (GRCm39) |
K35R |
probably benign |
Het |
Zfp462 |
T |
A |
4: 55,016,986 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Spata31e4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01548:Spata31e4
|
APN |
13 |
50,854,414 (GRCm39) |
missense |
probably benign |
0.18 |
IGL02452:Spata31e4
|
APN |
13 |
50,857,113 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02610:Spata31e4
|
APN |
13 |
50,855,748 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL03171:Spata31e4
|
APN |
13 |
50,856,388 (GRCm39) |
missense |
probably benign |
0.23 |
IGL03369:Spata31e4
|
APN |
13 |
50,857,200 (GRCm39) |
missense |
possibly damaging |
0.74 |
PIT4382001:Spata31e4
|
UTSW |
13 |
50,855,007 (GRCm39) |
missense |
probably damaging |
0.99 |
R0346:Spata31e4
|
UTSW |
13 |
50,857,346 (GRCm39) |
missense |
probably benign |
0.12 |
R1015:Spata31e4
|
UTSW |
13 |
50,855,664 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1054:Spata31e4
|
UTSW |
13 |
50,856,432 (GRCm39) |
missense |
probably benign |
0.01 |
R1102:Spata31e4
|
UTSW |
13 |
50,857,118 (GRCm39) |
missense |
probably benign |
0.00 |
R1519:Spata31e4
|
UTSW |
13 |
50,854,443 (GRCm39) |
critical splice donor site |
probably null |
|
R1628:Spata31e4
|
UTSW |
13 |
50,856,324 (GRCm39) |
missense |
probably benign |
0.25 |
R1754:Spata31e4
|
UTSW |
13 |
50,855,123 (GRCm39) |
missense |
probably damaging |
0.98 |
R4212:Spata31e4
|
UTSW |
13 |
50,854,388 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4672:Spata31e4
|
UTSW |
13 |
50,857,208 (GRCm39) |
missense |
probably benign |
|
R4780:Spata31e4
|
UTSW |
13 |
50,855,116 (GRCm39) |
missense |
probably damaging |
0.97 |
R4794:Spata31e4
|
UTSW |
13 |
50,857,275 (GRCm39) |
missense |
probably benign |
0.07 |
R6240:Spata31e4
|
UTSW |
13 |
50,855,453 (GRCm39) |
missense |
probably damaging |
0.97 |
R6366:Spata31e4
|
UTSW |
13 |
50,855,972 (GRCm39) |
missense |
probably benign |
0.01 |
R6421:Spata31e4
|
UTSW |
13 |
50,855,987 (GRCm39) |
missense |
probably benign |
0.35 |
R6644:Spata31e4
|
UTSW |
13 |
50,856,071 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6678:Spata31e4
|
UTSW |
13 |
50,855,946 (GRCm39) |
missense |
probably benign |
0.14 |
R6788:Spata31e4
|
UTSW |
13 |
50,857,131 (GRCm39) |
missense |
probably damaging |
0.99 |
R7030:Spata31e4
|
UTSW |
13 |
50,857,019 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7513:Spata31e4
|
UTSW |
13 |
50,856,909 (GRCm39) |
missense |
probably benign |
0.01 |
R7681:Spata31e4
|
UTSW |
13 |
50,856,290 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7753:Spata31e4
|
UTSW |
13 |
50,855,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R7794:Spata31e4
|
UTSW |
13 |
50,856,344 (GRCm39) |
missense |
probably damaging |
0.98 |
R7994:Spata31e4
|
UTSW |
13 |
50,856,900 (GRCm39) |
missense |
probably benign |
0.04 |
R8021:Spata31e4
|
UTSW |
13 |
50,855,130 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8858:Spata31e4
|
UTSW |
13 |
50,855,423 (GRCm39) |
missense |
probably benign |
0.07 |
R9027:Spata31e4
|
UTSW |
13 |
50,857,007 (GRCm39) |
nonsense |
probably null |
|
R9037:Spata31e4
|
UTSW |
13 |
50,856,944 (GRCm39) |
missense |
probably benign |
0.09 |
R9047:Spata31e4
|
UTSW |
13 |
50,856,128 (GRCm39) |
nonsense |
probably null |
|
R9065:Spata31e4
|
UTSW |
13 |
50,856,276 (GRCm39) |
missense |
probably benign |
0.01 |
R9476:Spata31e4
|
UTSW |
13 |
50,856,149 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9495:Spata31e4
|
UTSW |
13 |
50,855,465 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9510:Spata31e4
|
UTSW |
13 |
50,856,149 (GRCm39) |
missense |
possibly damaging |
0.70 |
Z1177:Spata31e4
|
UTSW |
13 |
50,856,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGAGATGAGGCCCCTTCATTC -3'
(R):5'- AGGATCAAGAGGCCCATCCATC -3'
Sequencing Primer
(F):5'- GAGGCCCCTTCATTCCCCTTG -3'
(R):5'- GAGGCCCATCCATCTGTGTAAATTTG -3'
|
Posted On |
2016-07-06 |