Incidental Mutation 'IGL02615:Spata31f1e'
| ID |
300626 |
| 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 # |
IGL02615
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
42781928-42856771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 42793027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 368
(M368I)
|
| 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 benign
Transcript: ENSMUST00000107981
AA Change: M368I
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103615
Gene: ENSMUSG00000078722
AA Change: M368I
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
T |
5: 138,644,402 (GRCm39) |
E96* |
probably null |
Het |
| Adck5 |
C |
T |
15: 76,473,367 (GRCm39) |
S72L |
possibly damaging |
Het |
| Afdn |
A |
G |
17: 14,046,238 (GRCm39) |
H404R |
probably benign |
Het |
| Aph1c |
A |
T |
9: 66,726,688 (GRCm39) |
V222E |
possibly damaging |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Bcl2l13 |
A |
T |
6: 120,839,828 (GRCm39) |
D42V |
probably damaging |
Het |
| Bhlhe22 |
C |
T |
3: 18,109,064 (GRCm39) |
T38I |
possibly damaging |
Het |
| Ccdc51 |
A |
T |
9: 108,918,503 (GRCm39) |
T31S |
probably benign |
Het |
| Ctbp2 |
A |
G |
7: 132,597,076 (GRCm39) |
I669T |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,739,704 (GRCm39) |
T998A |
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,189,672 (GRCm39) |
Y410C |
probably damaging |
Het |
| Gli2 |
T |
A |
1: 118,772,128 (GRCm39) |
N526Y |
probably damaging |
Het |
| Ighv1-64 |
A |
G |
12: 115,471,307 (GRCm39) |
I70T |
possibly damaging |
Het |
| Mphosph10 |
A |
T |
7: 64,030,793 (GRCm39) |
|
probably benign |
Het |
| Mrps34 |
A |
G |
17: 25,114,767 (GRCm39) |
|
probably null |
Het |
| Myo1f |
A |
T |
17: 33,823,630 (GRCm39) |
I1053L |
probably benign |
Het |
| Nckap5l |
G |
A |
15: 99,327,263 (GRCm39) |
P142L |
possibly damaging |
Het |
| Platr26 |
T |
A |
2: 71,560,770 (GRCm39) |
|
noncoding transcript |
Het |
| Rag2 |
T |
A |
2: 101,459,913 (GRCm39) |
Y74* |
probably null |
Het |
| Rnf213 |
A |
T |
11: 119,331,615 (GRCm39) |
M2275L |
probably damaging |
Het |
| Rsbn1 |
T |
A |
3: 103,861,068 (GRCm39) |
L498Q |
probably damaging |
Het |
| Scp2 |
A |
G |
4: 107,964,828 (GRCm39) |
V62A |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,979,401 (GRCm39) |
I1421V |
probably benign |
Het |
| St6galnac4 |
A |
G |
2: 32,484,216 (GRCm39) |
H138R |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,143,768 (GRCm39) |
M1045K |
probably damaging |
Het |
| Tbxas1 |
C |
T |
6: 39,004,800 (GRCm39) |
T349M |
probably damaging |
Het |
| U2surp |
T |
G |
9: 95,375,284 (GRCm39) |
D146A |
probably benign |
Het |
| Usp38 |
T |
C |
8: 81,711,780 (GRCm39) |
M752V |
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 |
|
IGL01584:Spata31f1e
|
APN |
4 |
42,794,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02188:Spata31f1e
|
APN |
4 |
42,791,994 (GRCm39) |
splice site |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation