Incidental Mutation 'R1015:Spata31e4'
| ID |
96200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31e4
|
| Ensembl Gene |
ENSMUSG00000094918 |
| Gene Name |
spermatogenesis associated 31 subfamily E member 4 |
| Synonyms |
Gm8765 |
| MMRRC Submission |
039119-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R1015 (G1)
|
| Quality Score |
84 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
50852348-50857471 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 50855664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 434
(V434G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099518]
|
| AlphaFold |
B7ZWJ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099518
AA Change: V434G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097118
Gene: ENSMUSG00000094918
AA Change: V434G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3d1 |
A |
G |
10: 80,552,323 (GRCm39) |
V615A |
probably damaging |
Het |
| Atp6v1d |
A |
G |
12: 78,896,543 (GRCm39) |
V108A |
possibly damaging |
Het |
| B3gnt6 |
C |
A |
7: 97,843,802 (GRCm39) |
V53L |
probably benign |
Het |
| C8b |
A |
G |
4: 104,644,157 (GRCm39) |
K275E |
probably benign |
Het |
| Cage1 |
T |
A |
13: 38,200,451 (GRCm39) |
N683I |
possibly damaging |
Het |
| Celsr3 |
T |
C |
9: 108,710,375 (GRCm39) |
V1535A |
probably benign |
Het |
| Cep120 |
C |
T |
18: 53,836,193 (GRCm39) |
|
probably null |
Het |
| Cep135 |
T |
C |
5: 76,788,844 (GRCm39) |
|
probably null |
Het |
| Chd9 |
T |
A |
8: 91,659,206 (GRCm39) |
H55Q |
probably damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,275,049 (GRCm39) |
T2915I |
probably benign |
Het |
| Eps8l1 |
A |
T |
7: 4,472,932 (GRCm39) |
D118V |
probably damaging |
Het |
| Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
| Galnt2 |
C |
T |
8: 125,063,356 (GRCm39) |
H359Y |
probably benign |
Het |
| Kdm5d |
T |
C |
Y: 941,687 (GRCm39) |
V1296A |
possibly damaging |
Het |
| Kif27 |
T |
A |
13: 58,468,029 (GRCm39) |
K849N |
probably damaging |
Het |
| Kif5c |
T |
A |
2: 49,634,377 (GRCm39) |
D736E |
probably benign |
Het |
| Krt18 |
T |
C |
15: 101,939,735 (GRCm39) |
I311T |
probably benign |
Het |
| Lamc2 |
A |
T |
1: 153,041,945 (GRCm39) |
V63D |
possibly damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,770,959 (GRCm39) |
C295* |
probably null |
Het |
| Lrrc37 |
T |
C |
11: 103,436,622 (GRCm39) |
H754R |
probably benign |
Het |
| Map3k14 |
T |
A |
11: 103,116,126 (GRCm39) |
Q767H |
probably damaging |
Het |
| Mapkapk5 |
T |
C |
5: 121,671,425 (GRCm39) |
K203E |
probably benign |
Het |
| Mcc |
C |
A |
18: 44,857,736 (GRCm39) |
L126F |
probably benign |
Het |
| Mib1 |
T |
A |
18: 10,726,409 (GRCm39) |
H35Q |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,440,183 (GRCm39) |
N412D |
probably benign |
Het |
| Ndst2 |
T |
C |
14: 20,780,132 (GRCm39) |
Y36C |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,964,154 (GRCm39) |
I1246T |
probably damaging |
Het |
| Or5d47 |
T |
C |
2: 87,804,431 (GRCm39) |
T193A |
probably benign |
Het |
| Or5m9 |
T |
C |
2: 85,877,426 (GRCm39) |
I200T |
possibly damaging |
Het |
| Patl1 |
T |
C |
19: 11,897,737 (GRCm39) |
V108A |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,374,594 (GRCm39) |
E1847G |
probably damaging |
Het |
| Pla2g2f |
C |
T |
4: 138,481,579 (GRCm39) |
V57I |
probably benign |
Het |
| Prag1 |
T |
C |
8: 36,613,697 (GRCm39) |
V1083A |
probably damaging |
Het |
| Slc3a2 |
C |
T |
19: 8,685,319 (GRCm39) |
W227* |
probably null |
Het |
| Snx9 |
A |
G |
17: 5,970,402 (GRCm39) |
I379M |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,225,795 (GRCm39) |
K846E |
probably benign |
Het |
| Taf4b |
T |
A |
18: 14,946,155 (GRCm39) |
V326E |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,612,748 (GRCm39) |
S462F |
possibly damaging |
Het |
| Trim66 |
C |
T |
7: 109,054,440 (GRCm39) |
V1257I |
probably damaging |
Het |
| Urb2 |
T |
C |
8: 124,756,173 (GRCm39) |
Y627H |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,727,408 (GRCm39) |
L1058P |
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,047,212 (GRCm39) |
S702G |
probably benign |
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 |
|
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 |
|
R5171:Spata31e4
|
UTSW |
13 |
50,854,414 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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'- CCCATGTACAGGAACATTTCCCAGC -3'
(R):5'- GGTGATGCAACTTTTCCAGGACCC -3'
Sequencing Primer
(F):5'- CTACAGGGCTGCCCTTAAAG -3'
(R):5'- CCTGGCAGCCTTGGAATTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation