Incidental Mutation 'IGL02101:Spata17'
| ID |
279762 |
| 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 # |
IGL02101
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
186776845-186947662 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 186849657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 84
(I84V)
|
| 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: I193V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027908
Gene: ENSMUSG00000026611
AA Change: I193V
| 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: I193V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138855
Gene: ENSMUSG00000026611
AA Change: I193V
| 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: I84V
PolyPhen 2
Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139329
Gene: ENSMUSG00000026611
AA Change: I84V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183996
AA Change: I37V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000139073
Gene: ENSMUSG00000026611
AA Change: I37V
| 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 |
|---|
| Cd163 |
T |
A |
6: 124,284,246 (GRCm39) |
C139* |
probably null |
Het |
| Ces2g |
A |
G |
8: 105,691,769 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
C |
2: 91,402,885 (GRCm39) |
|
probably benign |
Het |
| Cmtm7 |
T |
C |
9: 114,592,336 (GRCm39) |
H87R |
probably damaging |
Het |
| Dennd3 |
A |
G |
15: 73,399,794 (GRCm39) |
D220G |
possibly damaging |
Het |
| Dpp10 |
T |
C |
1: 123,339,555 (GRCm39) |
Y324C |
probably damaging |
Het |
| Dsc3 |
C |
T |
18: 20,134,963 (GRCm39) |
R7Q |
probably benign |
Het |
| Ezh1 |
T |
C |
11: 101,086,392 (GRCm39) |
K598E |
possibly damaging |
Het |
| Ighv7-3 |
A |
G |
12: 114,117,045 (GRCm39) |
L39P |
probably damaging |
Het |
| Il1rap |
T |
A |
16: 26,442,932 (GRCm39) |
S9R |
possibly damaging |
Het |
| Mrgpra3 |
A |
G |
7: 47,239,300 (GRCm39) |
C209R |
probably damaging |
Het |
| Oc90 |
G |
T |
15: 65,769,638 (GRCm39) |
P73Q |
probably damaging |
Het |
| Or2m12 |
T |
C |
16: 19,105,363 (GRCm39) |
I43M |
probably benign |
Het |
| Or3a1b |
G |
A |
11: 74,012,571 (GRCm39) |
W152* |
probably null |
Het |
| Pccb |
A |
G |
9: 100,869,894 (GRCm39) |
F346L |
possibly damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,687,720 (GRCm39) |
I225T |
probably damaging |
Het |
| Pold3 |
A |
T |
7: 99,749,703 (GRCm39) |
M154K |
probably damaging |
Het |
| Polr1a |
T |
G |
6: 71,927,786 (GRCm39) |
C846G |
probably benign |
Het |
| Ppip5k1 |
C |
A |
2: 121,162,089 (GRCm39) |
R978L |
possibly damaging |
Het |
| Ptpn4 |
A |
G |
1: 119,615,408 (GRCm39) |
V582A |
probably damaging |
Het |
| Sez6l |
G |
T |
5: 112,620,612 (GRCm39) |
Q323K |
probably damaging |
Het |
| Slc27a5 |
A |
T |
7: 12,727,270 (GRCm39) |
I384N |
possibly damaging |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,355,631 (GRCm39) |
F227L |
probably benign |
Het |
| Smad4 |
C |
A |
18: 73,791,723 (GRCm39) |
A273S |
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,268,708 (GRCm39) |
T95A |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,329,995 (GRCm39) |
D1076G |
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 |
|
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 |
2015-04-16 |
Incidental Mutation