Incidental Mutation 'R6496:Spata31f1a'
ID |
523009 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31f1a
|
Ensembl Gene |
ENSMUSG00000078721 |
Gene Name |
spermatogenesis associated 31 subfamily F member 1A |
Synonyms |
Fam205a1, Gm12429 |
MMRRC Submission |
044628-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R6496 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
42848071-42853888 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 42848424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 1244
(T1244K)
|
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 damaging
Transcript: ENSMUST00000107979
AA Change: T1244K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103613 Gene: ENSMUSG00000078721 AA Change: T1244K
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
T |
A |
2: 19,545,217 (GRCm39) |
T79S |
probably benign |
Het |
Atp2b1 |
T |
A |
10: 98,839,199 (GRCm39) |
C676S |
probably damaging |
Het |
Atp8b5 |
T |
C |
4: 43,371,003 (GRCm39) |
F1047L |
probably benign |
Het |
B3gnt4 |
G |
A |
5: 123,649,654 (GRCm39) |
E340K |
probably benign |
Het |
Casp8ap2 |
A |
C |
4: 32,641,553 (GRCm39) |
H869P |
probably benign |
Het |
Cdh26 |
G |
A |
2: 178,091,654 (GRCm39) |
G71D |
probably damaging |
Het |
Col4a2 |
G |
T |
8: 11,452,993 (GRCm39) |
G187* |
probably null |
Het |
Col4a2 |
G |
T |
8: 11,452,994 (GRCm39) |
G187V |
probably damaging |
Het |
Dsn1 |
A |
G |
2: 156,847,187 (GRCm39) |
S84P |
probably damaging |
Het |
Edaradd |
T |
A |
13: 12,493,323 (GRCm39) |
D123V |
probably damaging |
Het |
Epb41l1 |
T |
C |
2: 156,375,716 (GRCm39) |
S611P |
possibly damaging |
Het |
Fam217a |
G |
A |
13: 35,094,785 (GRCm39) |
R234* |
probably null |
Het |
Gm17175 |
A |
G |
14: 51,810,534 (GRCm39) |
I31T |
probably benign |
Het |
Jtb |
T |
C |
3: 90,141,264 (GRCm39) |
V80A |
possibly damaging |
Het |
Kera |
T |
A |
10: 97,448,672 (GRCm39) |
N297K |
probably benign |
Het |
Klhl1 |
T |
C |
14: 96,477,652 (GRCm39) |
N472S |
probably benign |
Het |
Lgmn |
T |
C |
12: 102,364,498 (GRCm39) |
T324A |
probably benign |
Het |
Ndst3 |
A |
G |
3: 123,346,201 (GRCm39) |
I276T |
probably damaging |
Het |
Nsd2 |
A |
G |
5: 34,000,857 (GRCm39) |
K125E |
probably damaging |
Het |
Or10ag59 |
A |
C |
2: 87,405,460 (GRCm39) |
N11H |
probably damaging |
Het |
Or6c33 |
T |
A |
10: 129,853,448 (GRCm39) |
S73T |
probably benign |
Het |
Patj |
C |
A |
4: 98,304,989 (GRCm39) |
A281E |
probably damaging |
Het |
Pcdha7 |
A |
G |
18: 37,107,638 (GRCm39) |
E221G |
possibly damaging |
Het |
Plcd1 |
A |
G |
9: 118,901,709 (GRCm39) |
F605S |
possibly damaging |
Het |
Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
Pmfbp1 |
A |
G |
8: 110,258,789 (GRCm39) |
K698R |
probably null |
Het |
Potefam1 |
T |
A |
2: 110,994,817 (GRCm39) |
H232L |
unknown |
Het |
Psd |
G |
A |
19: 46,308,753 (GRCm39) |
R628C |
probably damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,176,633 (GRCm39) |
N1211S |
probably benign |
Het |
Slc1a3 |
T |
A |
15: 8,679,065 (GRCm39) |
M177L |
probably benign |
Het |
Slc34a1 |
T |
C |
13: 55,550,495 (GRCm39) |
S183P |
probably benign |
Het |
Spata22 |
G |
A |
11: 73,231,189 (GRCm39) |
G148R |
probably damaging |
Het |
Tfap2a |
T |
C |
13: 40,882,251 (GRCm39) |
D18G |
probably damaging |
Het |
Thoc7 |
T |
C |
14: 13,954,593 (GRCm38) |
N28S |
possibly damaging |
Het |
Usp42 |
T |
C |
5: 143,700,858 (GRCm39) |
Y1055C |
probably damaging |
Het |
Zfp874a |
A |
G |
13: 67,590,694 (GRCm39) |
V330A |
possibly 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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATAAGCCAACCTAGGACAGTGC -3'
(R):5'- ACCTGCGAGGACTGCTAAAG -3'
Sequencing Primer
(F):5'- CAACCTAGGACAGTGCCGAGG -3'
(R):5'- GAGGACTGCTAAAGCCCCC -3'
|
Posted On |
2018-06-06 |