Incidental Mutation 'IGL03171:Spata31e4'
| ID |
411833 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spata31e4
|
| Ensembl Gene |
ENSMUSG00000094918 |
| Gene Name |
spermatogenesis associated 31 subfamily E member 4 |
| Synonyms |
Gm8765 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL03171
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
50852348-50857471 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 50856388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 675
(S675R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099518]
|
| AlphaFold |
B7ZWJ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099518
AA Change: S675R
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000097118
Gene: ENSMUSG00000094918
AA Change: S675R
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
T |
A |
6: 83,139,377 (GRCm39) |
F434Y |
possibly damaging |
Het |
| Adam19 |
G |
T |
11: 46,029,681 (GRCm39) |
A709S |
probably damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,401,292 (GRCm39) |
L42Q |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,071,508 (GRCm39) |
N1264S |
possibly damaging |
Het |
| Dnah9 |
T |
G |
11: 65,872,067 (GRCm39) |
K2721T |
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,018,622 (GRCm39) |
A575T |
probably benign |
Het |
| Esco1 |
T |
C |
18: 10,594,263 (GRCm39) |
E341G |
probably damaging |
Het |
| Ezh2 |
G |
A |
6: 47,517,715 (GRCm39) |
R574* |
probably null |
Het |
| Fam169a |
G |
T |
13: 97,246,522 (GRCm39) |
|
probably benign |
Het |
| Fry |
T |
C |
5: 150,304,274 (GRCm39) |
Y555H |
probably damaging |
Het |
| Gm17175 |
A |
C |
14: 51,809,065 (GRCm39) |
S100R |
probably damaging |
Het |
| Gm527 |
T |
C |
12: 64,967,931 (GRCm39) |
Y118H |
probably damaging |
Het |
| H2-M10.4 |
G |
T |
17: 36,772,142 (GRCm39) |
T202N |
probably damaging |
Het |
| Ift70a1 |
C |
T |
2: 75,810,851 (GRCm39) |
A411T |
probably benign |
Het |
| Igf1 |
A |
T |
10: 87,700,683 (GRCm39) |
T36S |
probably damaging |
Het |
| Ints8 |
C |
T |
4: 11,231,702 (GRCm39) |
V428I |
probably benign |
Het |
| Itga6 |
G |
A |
2: 71,671,673 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
A |
G |
10: 67,061,277 (GRCm39) |
E1210G |
possibly damaging |
Het |
| Kdm2a |
A |
T |
19: 4,406,792 (GRCm39) |
V134E |
probably damaging |
Het |
| Limch1 |
C |
A |
5: 67,191,537 (GRCm39) |
N947K |
possibly damaging |
Het |
| Met |
T |
C |
6: 17,562,272 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,106,376 (GRCm39) |
|
probably benign |
Het |
| Ogg1 |
A |
G |
6: 113,310,375 (GRCm39) |
I274V |
possibly damaging |
Het |
| Ola1 |
A |
T |
2: 72,987,197 (GRCm39) |
I145K |
probably benign |
Het |
| Or2r11 |
G |
A |
6: 42,437,464 (GRCm39) |
T163I |
possibly damaging |
Het |
| Pacrg |
A |
G |
17: 10,795,462 (GRCm39) |
V166A |
possibly damaging |
Het |
| Pira2 |
T |
A |
7: 3,845,604 (GRCm39) |
E260V |
probably damaging |
Het |
| Prickle3 |
T |
C |
X: 7,531,526 (GRCm39) |
C277R |
probably damaging |
Het |
| Psen1 |
A |
G |
12: 83,761,638 (GRCm39) |
T147A |
probably damaging |
Het |
| Pxk |
C |
T |
14: 8,151,014 (GRCm38) |
|
probably benign |
Het |
| Scn11a |
G |
A |
9: 119,648,913 (GRCm39) |
P50L |
probably benign |
Het |
| Scn4a |
C |
A |
11: 106,236,418 (GRCm39) |
V281L |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,789,166 (GRCm39) |
I551T |
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,150,539 (GRCm39) |
I281N |
probably benign |
Het |
| Spopfm1 |
C |
A |
3: 94,173,762 (GRCm39) |
H257N |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,874,336 (GRCm39) |
K209E |
probably benign |
Het |
| Trip6 |
C |
T |
5: 137,311,146 (GRCm39) |
R190Q |
probably benign |
Het |
| Ubqln1 |
T |
A |
13: 58,328,672 (GRCm39) |
E426D |
probably damaging |
Het |
| Zfp607b |
C |
A |
7: 27,393,020 (GRCm39) |
N49K |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation