Incidental Mutation 'V7732:Spata17'
| ID |
44028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata17
|
| Ensembl Gene |
ENSMUSG00000026611 |
| Gene Name |
spermatogenesis associated 17 |
| Synonyms |
4930513F16Rik, 4930504I07Rik, 1700065F16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
V7732 ()
of strain
may
|
| Quality Score |
178 |
|
Status
|
Validated
(trace)
|
| Chromosome |
1 |
| Chromosomal Location |
186776845-186947662 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 186780677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 357
(T357A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027908]
[ENSMUST00000183819]
|
| AlphaFold |
Q9D552 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027908
AA Change: T357A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027908
Gene: ENSMUSG00000026611
AA Change: T357A
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
47 |
69 |
5.27e0 |
SMART |
|
IQ
|
70 |
92 |
1.77e-2 |
SMART |
|
IQ
|
106 |
128 |
1.4e1 |
SMART |
|
coiled coil region
|
133 |
174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159848
AA Change: T357A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123771
Gene: ENSMUSG00000026611
AA Change: T357A
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
47 |
69 |
5.27e0 |
SMART |
|
IQ
|
70 |
92 |
1.77e-2 |
SMART |
|
IQ
|
106 |
128 |
1.4e1 |
SMART |
|
coiled coil region
|
133 |
174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183819
AA Change: T357A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138855
Gene: ENSMUSG00000026611
AA Change: T357A
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
47 |
69 |
5.27e0 |
SMART |
|
IQ
|
70 |
92 |
1.77e-2 |
SMART |
|
IQ
|
106 |
128 |
1.4e1 |
SMART |
|
coiled coil region
|
133 |
174 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0746 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.9%
- 20x: 90.3%
|
| Validation Efficiency |
96% (25/26) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
T |
C |
16: 35,103,911 (GRCm39) |
F793L |
probably benign |
Het |
| Atmin |
C |
T |
8: 117,683,218 (GRCm39) |
P293S |
probably damaging |
Het |
| Card11 |
G |
A |
5: 140,862,250 (GRCm39) |
R1016* |
probably null |
Het |
| Cep89 |
A |
G |
7: 35,102,523 (GRCm39) |
S79G |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,991,670 (GRCm39) |
V2227A |
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,098,412 (GRCm39) |
V534A |
probably damaging |
Het |
| Dpep2 |
T |
A |
8: 106,715,892 (GRCm39) |
H124L |
probably damaging |
Het |
| Elfn1 |
G |
A |
5: 139,957,194 (GRCm39) |
R66Q |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Ggh |
T |
A |
4: 20,046,225 (GRCm39) |
F44L |
probably benign |
Het |
| Gpr37 |
T |
C |
6: 25,669,122 (GRCm39) |
Y574C |
probably benign |
Het |
| Heatr5a |
C |
A |
12: 51,952,107 (GRCm39) |
A1178S |
possibly damaging |
Het |
| Igsf9 |
A |
G |
1: 172,317,960 (GRCm39) |
T106A |
probably benign |
Het |
| Itpr3 |
G |
C |
17: 27,330,000 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
G |
T |
17: 27,329,998 (GRCm39) |
|
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,506,561 (GRCm39) |
|
probably benign |
Het |
| Rabac1 |
T |
A |
7: 24,671,644 (GRCm39) |
Q51L |
probably damaging |
Het |
| Rgma |
A |
G |
7: 73,067,068 (GRCm39) |
T108A |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Sarm1 |
T |
A |
11: 78,378,891 (GRCm39) |
T385S |
probably benign |
Het |
| Ufl1 |
T |
C |
4: 25,251,368 (GRCm39) |
I711V |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,378,172 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Spata17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00662:Spata17
|
APN |
1 |
186,849,536 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02101:Spata17
|
APN |
1 |
186,849,657 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02268:Spata17
|
APN |
1 |
186,872,595 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02406:Spata17
|
APN |
1 |
186,849,458 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02429:Spata17
|
APN |
1 |
186,872,631 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03333:Spata17
|
APN |
1 |
186,872,667 (GRCm39) |
start codon destroyed |
probably null |
|
|
R0147:Spata17
|
UTSW |
1 |
186,844,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Spata17
|
UTSW |
1 |
186,844,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0269:Spata17
|
UTSW |
1 |
186,830,069 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1521:Spata17
|
UTSW |
1 |
186,926,191 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1620:Spata17
|
UTSW |
1 |
186,915,412 (GRCm39) |
intron |
probably benign |
|
|
R2017:Spata17
|
UTSW |
1 |
186,780,650 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2113:Spata17
|
UTSW |
1 |
186,830,108 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2251:Spata17
|
UTSW |
1 |
186,780,670 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4260:Spata17
|
UTSW |
1 |
186,780,677 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4572:Spata17
|
UTSW |
1 |
186,926,193 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4894:Spata17
|
UTSW |
1 |
186,872,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4910:Spata17
|
UTSW |
1 |
186,926,208 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6277:Spata17
|
UTSW |
1 |
186,926,151 (GRCm39) |
nonsense |
probably null |
|
|
R7200:Spata17
|
UTSW |
1 |
186,844,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7621:Spata17
|
UTSW |
1 |
186,854,833 (GRCm39) |
splice site |
probably null |
|
|
R7735:Spata17
|
UTSW |
1 |
186,872,577 (GRCm39) |
missense |
unknown |
|
|
R7990:Spata17
|
UTSW |
1 |
186,872,592 (GRCm39) |
missense |
unknown |
|
|
R8115:Spata17
|
UTSW |
1 |
186,849,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8833:Spata17
|
UTSW |
1 |
186,915,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9288:Spata17
|
UTSW |
1 |
186,844,756 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9481:Spata17
|
UTSW |
1 |
186,844,756 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9588:Spata17
|
UTSW |
1 |
186,849,471 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0027:Spata17
|
UTSW |
1 |
186,926,156 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Spata17
|
UTSW |
1 |
186,872,626 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Spata17
|
UTSW |
1 |
186,849,525 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACCCTAGACTCTTCCCATCACTCTAA -3'
(R):5'- GACATCAGACCTGTGTGCTTGCT -3'
Sequencing Primer
(F):5'- TACCTCACATGAATATTGTCACAGC -3'
(R):5'- aaaaacagaaacaaacaacaaaaagg -3'
|
| Posted On |
2013-05-31 |
Incidental Mutation