Incidental Mutation 'IGL00662:Spata17'
ID |
14201 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00662
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
186776845-186947662 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 186849536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 124
(N124S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139329
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027908]
[ENSMUST00000183819]
[ENSMUST00000183931]
[ENSMUST00000183996]
|
AlphaFold |
Q9D552 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027908
AA Change: N233S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027908 Gene: ENSMUSG00000026611 AA Change: N233S
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 |
probably benign
Transcript: ENSMUST00000159848
AA Change: N233S
PolyPhen 2
Score 0.000 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000123771 Gene: ENSMUSG00000026611 AA Change: N233S
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 |
noncoding transcript
Transcript: ENSMUST00000162615
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183819
AA Change: N233S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138855 Gene: ENSMUSG00000026611 AA Change: N233S
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 |
probably benign
Transcript: ENSMUST00000183931
AA Change: N124S
PolyPhen 2
Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000139329 Gene: ENSMUSG00000026611 AA Change: N124S
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
63 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183996
AA Change: N77S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000139073 Gene: ENSMUSG00000026611 AA Change: N77S
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg16l2 |
T |
C |
7: 100,939,103 (GRCm39) |
N587S |
probably benign |
Het |
Bcar3 |
C |
T |
3: 122,306,585 (GRCm39) |
A186V |
probably benign |
Het |
Bcr |
A |
T |
10: 75,003,932 (GRCm39) |
|
probably benign |
Het |
Cd207 |
A |
G |
6: 83,652,908 (GRCm39) |
I74T |
possibly damaging |
Het |
Cenpn |
T |
C |
8: 117,655,326 (GRCm39) |
|
probably null |
Het |
Chuk |
A |
T |
19: 44,085,649 (GRCm39) |
F228I |
possibly damaging |
Het |
Cmss1 |
T |
C |
16: 57,124,092 (GRCm39) |
D233G |
probably damaging |
Het |
Copg1 |
C |
T |
6: 87,879,352 (GRCm39) |
T466I |
possibly damaging |
Het |
Ctsll3 |
A |
G |
13: 60,946,756 (GRCm39) |
S288P |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,907,723 (GRCm39) |
I2760F |
possibly damaging |
Het |
Gpi1 |
A |
G |
7: 33,915,375 (GRCm39) |
|
probably benign |
Het |
Il18rap |
C |
T |
1: 40,581,081 (GRCm39) |
R318C |
probably benign |
Het |
Kcnk9 |
A |
G |
15: 72,417,924 (GRCm39) |
S69P |
probably benign |
Het |
Kctd18 |
T |
C |
1: 57,995,897 (GRCm39) |
T127A |
probably damaging |
Het |
Khk |
T |
C |
5: 31,087,019 (GRCm39) |
|
probably benign |
Het |
Ncapg |
T |
A |
5: 45,850,502 (GRCm39) |
S703T |
possibly damaging |
Het |
Nup98 |
T |
A |
7: 101,844,194 (GRCm39) |
N47I |
probably damaging |
Het |
Rad1 |
A |
G |
15: 10,490,495 (GRCm39) |
N154S |
probably benign |
Het |
Rigi |
A |
G |
4: 40,220,389 (GRCm39) |
|
probably benign |
Het |
Slc35f5 |
T |
A |
1: 125,515,161 (GRCm39) |
L438H |
probably damaging |
Het |
Slc7a2 |
A |
G |
8: 41,358,659 (GRCm39) |
Y334C |
possibly damaging |
Het |
Tfap2c |
T |
C |
2: 172,393,438 (GRCm39) |
Y118H |
probably damaging |
Het |
Tnpo3 |
A |
T |
6: 29,565,845 (GRCm39) |
L503* |
probably null |
Het |
Utrn |
C |
T |
10: 12,540,705 (GRCm39) |
E1907K |
probably damaging |
Het |
Vav3 |
T |
A |
3: 109,435,708 (GRCm39) |
|
probably benign |
Het |
Vps13a |
T |
A |
19: 16,681,904 (GRCm39) |
K1033I |
probably damaging |
Het |
Zfp202 |
A |
G |
9: 40,122,339 (GRCm39) |
N367S |
probably benign |
Het |
|
Other mutations in Spata17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
V7732:Spata17
|
UTSW |
1 |
186,780,677 (GRCm39) |
missense |
possibly damaging |
0.53 |
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 |
|
Posted On |
2012-12-06 |