Incidental Mutation 'IGL03101:Spata31f1e'
ID |
418722 |
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 # |
IGL03101
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
42781928-42856771 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42793424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 236
(D236G)
|
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 |
possibly damaging
Transcript: ENSMUST00000107981
AA Change: D236G
PolyPhen 2
Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103615 Gene: ENSMUSG00000078722 AA Change: D236G
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA474408 |
A |
T |
7: 109,660,177 (GRCm39) |
|
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,207,732 (GRCm39) |
V23D |
probably damaging |
Het |
Adam8 |
G |
T |
7: 139,568,456 (GRCm39) |
N260K |
possibly damaging |
Het |
Ap3b1 |
A |
T |
13: 94,591,906 (GRCm39) |
I457L |
probably benign |
Het |
Apaf1 |
T |
C |
10: 90,867,421 (GRCm39) |
N808S |
possibly damaging |
Het |
Arhgef26 |
A |
G |
3: 62,327,082 (GRCm39) |
T532A |
possibly damaging |
Het |
Cfap65 |
G |
T |
1: 74,967,592 (GRCm39) |
T162N |
possibly damaging |
Het |
Clec12b |
A |
G |
6: 129,356,480 (GRCm39) |
|
probably null |
Het |
Creb3 |
T |
C |
4: 43,563,081 (GRCm39) |
V60A |
probably benign |
Het |
Cyp11b1 |
A |
G |
15: 74,707,703 (GRCm39) |
F469L |
probably benign |
Het |
Defb28 |
A |
T |
2: 152,362,047 (GRCm39) |
E69V |
possibly damaging |
Het |
Etnppl |
T |
C |
3: 130,415,967 (GRCm39) |
L118S |
probably damaging |
Het |
Fsip1 |
T |
C |
2: 118,072,144 (GRCm39) |
Y213C |
probably damaging |
Het |
Glb1l2 |
A |
G |
9: 26,676,421 (GRCm39) |
W480R |
probably damaging |
Het |
Herc1 |
A |
T |
9: 66,395,279 (GRCm39) |
M4205L |
probably benign |
Het |
Kif5a |
A |
T |
10: 127,071,478 (GRCm39) |
|
probably benign |
Het |
Lmbrd2 |
C |
T |
15: 9,186,695 (GRCm39) |
R557C |
probably damaging |
Het |
Map4k3 |
A |
G |
17: 80,963,284 (GRCm39) |
|
probably null |
Het |
Npc1 |
A |
G |
18: 12,331,596 (GRCm39) |
I858T |
probably benign |
Het |
Or7e173 |
T |
C |
9: 19,938,725 (GRCm39) |
T170A |
probably benign |
Het |
Pecam1 |
A |
G |
11: 106,588,177 (GRCm39) |
V92A |
probably damaging |
Het |
Rbm43 |
A |
T |
2: 51,816,757 (GRCm39) |
I70N |
probably benign |
Het |
Rps6kb1 |
T |
C |
11: 86,393,708 (GRCm39) |
Y474C |
probably benign |
Het |
Slco2a1 |
G |
A |
9: 102,954,205 (GRCm39) |
G459R |
possibly damaging |
Het |
Snca |
T |
A |
6: 60,804,595 (GRCm39) |
|
probably benign |
Het |
Stap2 |
T |
A |
17: 56,309,029 (GRCm39) |
I113F |
probably damaging |
Het |
Tas2r140 |
T |
C |
6: 40,468,764 (GRCm39) |
M198T |
probably benign |
Het |
Trim9 |
T |
C |
12: 70,393,428 (GRCm39) |
E172G |
probably damaging |
Het |
Ttll7 |
T |
C |
3: 146,602,445 (GRCm39) |
V81A |
possibly damaging |
Het |
Vmn2r103 |
A |
G |
17: 19,993,782 (GRCm39) |
Y53C |
probably damaging |
Het |
Vmn2r22 |
C |
A |
6: 123,614,295 (GRCm39) |
A432S |
probably benign |
Het |
Zfp943 |
T |
C |
17: 22,211,156 (GRCm39) |
S81P |
probably damaging |
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 |
|
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 |
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 |
2016-08-02 |