Incidental Mutation 'IGL03407:Spata31f1a'
| ID |
421621 |
| 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: 0.081)
|
| Stock # |
IGL03407
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
42848071-42853888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42850528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 543
(W543R)
|
| 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: W543R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000103613
Gene: ENSMUSG00000078721
AA Change: W543R
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
G |
12: 118,904,111 (GRCm39) |
V198A |
probably benign |
Het |
| Acot3 |
A |
T |
12: 84,105,415 (GRCm39) |
D294V |
probably damaging |
Het |
| Dnajc10 |
T |
C |
2: 80,176,985 (GRCm39) |
Y647H |
probably damaging |
Het |
| Eml6 |
G |
A |
11: 29,856,330 (GRCm39) |
L67F |
probably damaging |
Het |
| Fbxw8 |
A |
G |
5: 118,280,741 (GRCm39) |
C139R |
probably damaging |
Het |
| Fscb |
G |
T |
12: 64,520,269 (GRCm39) |
A399D |
probably damaging |
Het |
| Gm21726 |
T |
C |
13: 90,731,760 (GRCm39) |
|
noncoding transcript |
Het |
| Lama2 |
A |
T |
10: 27,223,017 (GRCm39) |
V423D |
probably damaging |
Het |
| Mctp2 |
A |
T |
7: 71,861,400 (GRCm39) |
I415N |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,242,978 (GRCm39) |
T964A |
probably damaging |
Het |
| Ncf4 |
A |
G |
15: 78,138,981 (GRCm39) |
|
probably benign |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Or3a1d |
G |
T |
11: 74,238,371 (GRCm39) |
T13K |
possibly damaging |
Het |
| Or51m1 |
A |
T |
7: 103,578,158 (GRCm39) |
N43Y |
probably damaging |
Het |
| Plch2 |
A |
T |
4: 155,074,255 (GRCm39) |
V870E |
probably damaging |
Het |
| Prss55 |
A |
T |
14: 64,314,539 (GRCm39) |
D210E |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,198 (GRCm39) |
I373M |
possibly damaging |
Het |
| Rbm12 |
C |
A |
2: 155,939,484 (GRCm39) |
G263* |
probably null |
Het |
| Rnf167 |
G |
T |
11: 70,541,879 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,477,237 (GRCm39) |
I715T |
probably damaging |
Het |
| St8sia1 |
T |
C |
6: 142,859,775 (GRCm39) |
N118S |
possibly damaging |
Het |
| Tas1r3 |
A |
G |
4: 155,946,439 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
A |
G |
17: 14,893,535 (GRCm39) |
S882P |
probably benign |
Het |
| Tmem25 |
A |
G |
9: 44,707,636 (GRCm39) |
S220P |
probably damaging |
Het |
| Tnpo1 |
C |
T |
13: 99,000,348 (GRCm39) |
E340K |
probably damaging |
Het |
| Trex1 |
C |
T |
9: 108,887,395 (GRCm39) |
G199S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,545 (GRCm39) |
I32814V |
probably damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,434,185 (GRCm39) |
R840* |
probably null |
Het |
| Vps13b |
A |
T |
15: 35,640,012 (GRCm39) |
Q1294L |
possibly damaging |
Het |
| Zdhhc7 |
T |
C |
8: 120,812,131 (GRCm39) |
N164D |
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 |
|
IGL03190:Spata31f1a
|
APN |
4 |
42,848,362 (GRCm39) |
missense |
probably benign |
0.20 |
|
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