Incidental Mutation 'IGL02188:Spata31f1e'
| ID |
283726 |
| 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 # |
IGL02188
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
42781928-42856771 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 42791994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103618
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068158]
[ENSMUST00000107981]
[ENSMUST00000107984]
|
| AlphaFold |
A2AKP6 |
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000107981
AA Change: R713*
|
| SMART Domains |
Protein: ENSMUSP00000103615
Gene: ENSMUSG00000078722
AA Change: R713*
| 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 null
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 |
|---|
| Afap1 |
A |
G |
5: 36,093,421 (GRCm39) |
N56S |
probably benign |
Het |
| Asb18 |
A |
G |
1: 89,924,021 (GRCm39) |
C81R |
probably benign |
Het |
| Ccl25 |
A |
C |
8: 4,398,552 (GRCm39) |
|
probably benign |
Het |
| Cdh13 |
A |
G |
8: 119,578,500 (GRCm39) |
T176A |
probably benign |
Het |
| Cnrip1 |
A |
G |
11: 17,028,398 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
A |
T |
9: 20,853,034 (GRCm39) |
C62* |
probably null |
Het |
| Eepd1 |
T |
C |
9: 25,493,188 (GRCm39) |
F311L |
probably benign |
Het |
| Extl3 |
A |
G |
14: 65,313,154 (GRCm39) |
L676P |
probably damaging |
Het |
| F13a1 |
A |
G |
13: 37,090,035 (GRCm39) |
|
probably benign |
Het |
| Galnt12 |
C |
T |
4: 47,122,521 (GRCm39) |
R267W |
probably damaging |
Het |
| Gm5150 |
T |
A |
3: 16,017,826 (GRCm39) |
K148N |
possibly damaging |
Het |
| Haus8 |
G |
T |
8: 71,710,059 (GRCm39) |
A51E |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,877,035 (GRCm39) |
Y303H |
probably damaging |
Het |
| Itga5 |
C |
T |
15: 103,256,144 (GRCm39) |
R936H |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,894,213 (GRCm39) |
N1282S |
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Matn4 |
C |
T |
2: 164,242,786 (GRCm39) |
R104H |
probably benign |
Het |
| Mideas |
T |
C |
12: 84,209,100 (GRCm39) |
I667M |
probably benign |
Het |
| Myg1 |
T |
C |
15: 102,245,876 (GRCm39) |
I238T |
probably benign |
Het |
| Myo7a |
C |
T |
7: 97,740,234 (GRCm39) |
A598T |
probably damaging |
Het |
| Nbea |
T |
A |
3: 55,891,258 (GRCm39) |
I1604L |
probably benign |
Het |
| Nfx1 |
G |
A |
4: 40,993,827 (GRCm39) |
G547R |
probably damaging |
Het |
| Or5b113 |
A |
T |
19: 13,342,396 (GRCm39) |
M135L |
probably benign |
Het |
| Or5b113 |
A |
T |
19: 13,342,643 (GRCm39) |
Y217F |
probably damaging |
Het |
| Pelp1 |
T |
A |
11: 70,300,718 (GRCm39) |
I41F |
unknown |
Het |
| Pla2g2f |
T |
C |
4: 138,479,518 (GRCm39) |
|
probably benign |
Het |
| Rab19 |
T |
A |
6: 39,360,968 (GRCm39) |
S39T |
probably benign |
Het |
| Samd8 |
T |
C |
14: 21,833,866 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,326,020 (GRCm39) |
D1219G |
probably damaging |
Het |
| Slc2a4 |
C |
T |
11: 69,837,156 (GRCm39) |
M1I |
probably null |
Het |
| Slc44a1 |
T |
C |
4: 53,541,361 (GRCm39) |
V273A |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,068,382 (GRCm39) |
T3135A |
possibly damaging |
Het |
| Tnnc1 |
T |
C |
14: 30,932,617 (GRCm39) |
L100P |
possibly damaging |
Het |
| Ubr3 |
C |
T |
2: 69,789,955 (GRCm39) |
R870* |
probably null |
Het |
| Usp28 |
T |
C |
9: 48,935,309 (GRCm39) |
S87P |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,233,964 (GRCm39) |
V497E |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation