Incidental Mutation 'IGL01584:Spata31f1e'
| ID |
91475 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spata31f1e
|
| Ensembl Gene |
ENSMUSG00000078722 |
| Gene Name |
spermatogenesis associated 31 subfamily F member 1E |
| Synonyms |
Gm12394 |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
IGL01584
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
42781928-42856771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 42794014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 39
(S39R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068158]
[ENSMUST00000107981]
[ENSMUST00000107984]
|
| AlphaFold |
A2AKP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068158
|
| SMART Domains |
Protein: ENSMUSP00000068585
Gene: ENSMUSG00000054885
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
88 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107981
AA Change: S39R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103615
Gene: ENSMUSG00000078722
AA Change: S39R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4599
|
1 |
56 |
1.4e-15 |
PFAM |
|
low complexity region
|
87 |
104 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
157 |
279 |
9.4e-9 |
PFAM |
|
Pfam:FAM75
|
322 |
366 |
6.1e-10 |
PFAM |
|
Pfam:FAM75
|
365 |
543 |
8.3e-11 |
PFAM |
|
low complexity region
|
882 |
895 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107984
|
| SMART Domains |
Protein: ENSMUSP00000103618
Gene: ENSMUSG00000054885
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
88 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,195,749 (GRCm39) |
V570A |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,748,637 (GRCm39) |
S323P |
possibly damaging |
Het |
| Adcy8 |
C |
T |
15: 64,687,170 (GRCm39) |
D445N |
probably damaging |
Het |
| Cdc14a |
A |
T |
3: 116,186,474 (GRCm39) |
Y102* |
probably null |
Het |
| Cubn |
A |
G |
2: 13,313,472 (GRCm39) |
|
probably benign |
Het |
| Dcaf7 |
T |
C |
11: 105,944,653 (GRCm39) |
S279P |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,511,567 (GRCm39) |
Q1514R |
probably damaging |
Het |
| Dtx2 |
G |
A |
5: 136,055,420 (GRCm39) |
S369N |
possibly damaging |
Het |
| Dusp11 |
A |
G |
6: 85,930,376 (GRCm39) |
F136S |
probably damaging |
Het |
| Fbxo32 |
T |
C |
15: 58,047,632 (GRCm39) |
D227G |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,120,773 (GRCm39) |
V1215E |
unknown |
Het |
| Flg2 |
A |
T |
3: 93,122,777 (GRCm39) |
D1649V |
unknown |
Het |
| Gabbr2 |
T |
C |
4: 46,674,524 (GRCm39) |
K821R |
probably damaging |
Het |
| Gga2 |
T |
C |
7: 121,590,761 (GRCm39) |
T516A |
probably benign |
Het |
| Gm15446 |
T |
A |
5: 110,088,668 (GRCm39) |
*64K |
probably null |
Het |
| Gm5900 |
T |
C |
7: 104,599,361 (GRCm39) |
|
noncoding transcript |
Het |
| Il17rb |
A |
G |
14: 29,725,637 (GRCm39) |
F121S |
probably damaging |
Het |
| Ip6k3 |
C |
A |
17: 27,370,034 (GRCm39) |
R128L |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,754,250 (GRCm39) |
|
probably benign |
Het |
| Lrrn4 |
A |
G |
2: 132,719,996 (GRCm39) |
L268P |
probably damaging |
Het |
| Mthfd1l |
C |
A |
10: 3,966,738 (GRCm39) |
S332R |
probably damaging |
Het |
| Or12d12 |
C |
T |
17: 37,610,629 (GRCm39) |
R228H |
probably benign |
Het |
| Or5t17 |
G |
A |
2: 86,832,495 (GRCm39) |
V61I |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,592,569 (GRCm39) |
E25G |
probably damaging |
Het |
| Prima1 |
A |
T |
12: 103,169,047 (GRCm39) |
|
probably null |
Het |
| Rbm26 |
A |
G |
14: 105,368,968 (GRCm39) |
V737A |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,616,644 (GRCm39) |
|
probably null |
Het |
| Sema5b |
G |
T |
16: 35,465,793 (GRCm39) |
C114F |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,407,581 (GRCm39) |
V3196A |
probably damaging |
Het |
| Svs3b |
T |
C |
2: 164,097,943 (GRCm39) |
Y126C |
probably benign |
Het |
| Tmem171 |
T |
C |
13: 98,828,683 (GRCm39) |
|
probably null |
Het |
| Tnrc6b |
T |
A |
15: 80,763,883 (GRCm39) |
W462R |
probably benign |
Het |
| Trdmt1 |
T |
C |
2: 13,524,739 (GRCm39) |
R239G |
probably benign |
Het |
| Usp5 |
A |
T |
6: 124,796,350 (GRCm39) |
V583E |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,602,111 (GRCm39) |
V639A |
probably benign |
Het |
| Vmn1r206 |
T |
C |
13: 22,804,964 (GRCm39) |
K81R |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,383,197 (GRCm39) |
I599M |
probably benign |
Het |
|
| Other mutations in Spata31f1e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01336:Spata31f1e
|
APN |
4 |
42,793,784 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02188:Spata31f1e
|
APN |
4 |
42,791,994 (GRCm39) |
splice site |
probably null |
|
|
IGL02615:Spata31f1e
|
APN |
4 |
42,793,027 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03058:Spata31f1e
|
APN |
4 |
42,793,764 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03101:Spata31f1e
|
APN |
4 |
42,793,424 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
LCD18:Spata31f1e
|
UTSW |
4 |
42,792,885 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5959:Spata31f1e
|
UTSW |
4 |
42,793,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6123:Spata31f1e
|
UTSW |
4 |
42,793,065 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6221:Spata31f1e
|
UTSW |
4 |
42,793,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6450:Spata31f1e
|
UTSW |
4 |
42,792,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6518:Spata31f1e
|
UTSW |
4 |
42,791,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6622:Spata31f1e
|
UTSW |
4 |
42,793,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6962:Spata31f1e
|
UTSW |
4 |
42,793,323 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7301:Spata31f1e
|
UTSW |
4 |
42,792,923 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7334:Spata31f1e
|
UTSW |
4 |
42,793,856 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7501:Spata31f1e
|
UTSW |
4 |
42,791,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7788:Spata31f1e
|
UTSW |
4 |
42,793,546 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7807:Spata31f1e
|
UTSW |
4 |
42,793,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8354:Spata31f1e
|
UTSW |
4 |
42,793,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8795:Spata31f1e
|
UTSW |
4 |
42,792,992 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9006:Spata31f1e
|
UTSW |
4 |
42,792,546 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9007:Spata31f1e
|
UTSW |
4 |
42,792,546 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9008:Spata31f1e
|
UTSW |
4 |
42,792,546 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9168:Spata31f1e
|
UTSW |
4 |
42,793,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9448:Spata31f1e
|
UTSW |
4 |
42,793,440 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9450:Spata31f1e
|
UTSW |
4 |
42,793,833 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9613:Spata31f1e
|
UTSW |
4 |
42,792,992 (GRCm39) |
missense |
probably benign |
0.14 |
|
Z1177:Spata31f1e
|
UTSW |
4 |
42,793,520 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Spata31f1e
|
UTSW |
4 |
42,793,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation