Incidental Mutation 'IGL03190:Spata31f1a'
| ID |
412611 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spata31f1a
|
| Ensembl Gene |
ENSMUSG00000078721 |
| Gene Name |
spermatogenesis associated 31 subfamily F member 1A |
| Synonyms |
Fam205a1, Gm12429 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL03190
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
42848071-42853888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 42848362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 1265
(G1265C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068158]
[ENSMUST00000107979]
[ENSMUST00000107981]
[ENSMUST00000107984]
|
| AlphaFold |
D3YZF6 |
| 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: ENSMUST00000107979
AA Change: G1265C
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103613
Gene: ENSMUSG00000078721
AA Change: G1265C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:DUF4599
|
52 |
137 |
5e-26 |
PFAM |
|
low complexity region
|
169 |
179 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
278 |
314 |
8.5e-5 |
PROSPERO |
|
Pfam:FAM75
|
409 |
493 |
4.3e-10 |
PFAM |
|
Pfam:FAM75
|
453 |
628 |
1.2e-12 |
PFAM |
|
low complexity region
|
1160 |
1172 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107981
|
| SMART Domains |
Protein: ENSMUSP00000103615
Gene: ENSMUSG00000078722
| 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 |
|---|
| Adcy4 |
A |
T |
14: 56,016,510 (GRCm39) |
C314S |
probably damaging |
Het |
| Agr2 |
T |
A |
12: 36,048,634 (GRCm39) |
I128N |
probably damaging |
Het |
| Akr1c6 |
T |
C |
13: 4,496,412 (GRCm39) |
I91T |
possibly damaging |
Het |
| Ankrd45 |
A |
G |
1: 160,990,909 (GRCm39) |
I221V |
probably benign |
Het |
| Armc3 |
A |
T |
2: 19,293,761 (GRCm39) |
L517F |
probably damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,141,766 (GRCm39) |
M1129K |
probably benign |
Het |
| Atp6v0a4 |
T |
A |
6: 38,031,491 (GRCm39) |
Q670L |
probably benign |
Het |
| Bank1 |
T |
C |
3: 135,806,185 (GRCm39) |
Y483C |
probably damaging |
Het |
| Bcan |
A |
T |
3: 87,900,357 (GRCm39) |
|
probably benign |
Het |
| Bcl11a |
G |
A |
11: 24,108,333 (GRCm39) |
E104K |
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,673,208 (GRCm39) |
Q368* |
probably null |
Het |
| Clcn1 |
T |
A |
6: 42,267,037 (GRCm39) |
Y71N |
probably benign |
Het |
| Cul2 |
C |
T |
18: 3,429,634 (GRCm39) |
T498I |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,035,390 (GRCm39) |
D3014G |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,445,636 (GRCm39) |
|
probably benign |
Het |
| Il36g |
C |
A |
2: 24,077,272 (GRCm39) |
S28* |
probably null |
Het |
| Itgb3bp |
A |
G |
4: 99,677,923 (GRCm39) |
|
probably benign |
Het |
| Itm2b |
G |
A |
14: 73,603,229 (GRCm39) |
P120L |
probably damaging |
Het |
| Klk1b26 |
T |
C |
7: 43,662,151 (GRCm39) |
F3S |
possibly damaging |
Het |
| Lin52 |
T |
C |
12: 84,504,732 (GRCm39) |
V39A |
probably damaging |
Het |
| Magt1 |
A |
C |
X: 105,032,622 (GRCm39) |
N242K |
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,588,627 (GRCm39) |
M1118V |
probably damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,734 (GRCm39) |
M136K |
probably damaging |
Het |
| Or6k2 |
T |
C |
1: 173,987,110 (GRCm39) |
V257A |
probably damaging |
Het |
| Paqr5 |
A |
C |
9: 61,880,084 (GRCm39) |
L56R |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,396 (GRCm39) |
F452S |
probably damaging |
Het |
| Prdm5 |
T |
A |
6: 65,833,116 (GRCm39) |
|
probably benign |
Het |
| Rps6ka5 |
A |
G |
12: 100,524,907 (GRCm39) |
|
probably benign |
Het |
| Slc22a5 |
A |
G |
11: 53,765,840 (GRCm39) |
F249L |
probably benign |
Het |
| Ttll2 |
T |
C |
17: 7,618,779 (GRCm39) |
K383E |
probably benign |
Het |
| Ube2o |
G |
A |
11: 116,435,954 (GRCm39) |
P353L |
probably damaging |
Het |
| Vmn1r63 |
T |
C |
7: 5,806,110 (GRCm39) |
D174G |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,192,643 (GRCm39) |
|
probably null |
Het |
| Xpnpep2 |
T |
A |
X: 47,207,205 (GRCm39) |
|
probably benign |
Het |
| Zfp352 |
T |
A |
4: 90,111,994 (GRCm39) |
S45T |
possibly damaging |
Het |
| Zfp811 |
A |
G |
17: 33,017,855 (GRCm39) |
|
probably benign |
Het |
| Zfyve19 |
G |
A |
2: 119,046,717 (GRCm39) |
A304T |
probably damaging |
Het |
|
| Other mutations in Spata31f1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01307:Spata31f1a
|
APN |
4 |
42,850,963 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01369:Spata31f1a
|
APN |
4 |
42,852,548 (GRCm39) |
splice site |
probably null |
|
|
IGL02737:Spata31f1a
|
APN |
4 |
42,849,431 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02951:Spata31f1a
|
APN |
4 |
42,850,696 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03407:Spata31f1a
|
APN |
4 |
42,850,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0285:Spata31f1a
|
UTSW |
4 |
42,850,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0345:Spata31f1a
|
UTSW |
4 |
42,851,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0373:Spata31f1a
|
UTSW |
4 |
42,851,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0763:Spata31f1a
|
UTSW |
4 |
42,851,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1668:Spata31f1a
|
UTSW |
4 |
42,848,424 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2406:Spata31f1a
|
UTSW |
4 |
42,851,696 (GRCm39) |
missense |
probably benign |
|
|
R3722:Spata31f1a
|
UTSW |
4 |
42,851,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4820:Spata31f1a
|
UTSW |
4 |
42,851,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5168:Spata31f1a
|
UTSW |
4 |
42,851,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6170:Spata31f1a
|
UTSW |
4 |
42,849,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6249:Spata31f1a
|
UTSW |
4 |
42,850,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6357:Spata31f1a
|
UTSW |
4 |
42,850,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6496:Spata31f1a
|
UTSW |
4 |
42,848,424 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6894:Spata31f1a
|
UTSW |
4 |
42,850,291 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7079:Spata31f1a
|
UTSW |
4 |
42,851,718 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7881:Spata31f1a
|
UTSW |
4 |
42,851,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7904:Spata31f1a
|
UTSW |
4 |
42,850,765 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7938:Spata31f1a
|
UTSW |
4 |
42,850,765 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8017:Spata31f1a
|
UTSW |
4 |
42,850,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8210:Spata31f1a
|
UTSW |
4 |
42,848,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8385:Spata31f1a
|
UTSW |
4 |
42,850,509 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8894:Spata31f1a
|
UTSW |
4 |
42,853,688 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8981:Spata31f1a
|
UTSW |
4 |
42,849,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9448:Spata31f1a
|
UTSW |
4 |
42,850,250 (GRCm39) |
nonsense |
probably null |
|
|
R9488:Spata31f1a
|
UTSW |
4 |
42,850,560 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation