Incidental Mutation 'IGL03333:Spata17'
| ID |
416917 |
| 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: 0.051)
|
| Stock # |
IGL03333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
186776845-186947662 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 186872667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027908]
[ENSMUST00000110945]
[ENSMUST00000183819]
[ENSMUST00000183931]
[ENSMUST00000183996]
[ENSMUST00000184543]
|
| AlphaFold |
Q9D552 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027908
AA Change: M157K
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027908
Gene: ENSMUSG00000026611
AA Change: M157K
| 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: ENSMUST00000110945
AA Change: M157K
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106570
Gene: ENSMUSG00000026611
AA Change: M157K
| 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: ENSMUST00000183656
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183819
AA Change: M157K
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138855
Gene: ENSMUSG00000026611
AA Change: M157K
| 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: M48K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000139329
Gene: ENSMUSG00000026611
AA Change: M48K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000183996
AA Change: M1K
|
| SMART Domains |
Protein: ENSMUSP00000139073
Gene: ENSMUSG00000026611
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000184543
AA Change: M1K
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
T |
C |
15: 76,610,932 (GRCm39) |
M893V |
probably benign |
Het |
| Ccdc185 |
C |
A |
1: 182,576,398 (GRCm39) |
G97V |
probably damaging |
Het |
| Cep170 |
T |
C |
1: 176,597,092 (GRCm39) |
T422A |
possibly damaging |
Het |
| Ckap2l |
A |
C |
2: 129,138,228 (GRCm39) |
|
probably null |
Het |
| Cpa3 |
A |
G |
3: 20,269,992 (GRCm39) |
Y411H |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,385,949 (GRCm39) |
R1011L |
probably damaging |
Het |
| Efnb2 |
T |
A |
8: 8,689,275 (GRCm39) |
K30* |
probably null |
Het |
| Ep400 |
C |
T |
5: 110,851,432 (GRCm39) |
R1350H |
unknown |
Het |
| Epha6 |
T |
C |
16: 59,503,051 (GRCm39) |
D952G |
probably damaging |
Het |
| Exoc7 |
C |
A |
11: 116,191,987 (GRCm39) |
V195L |
probably benign |
Het |
| Fbxw8 |
T |
C |
5: 118,233,660 (GRCm39) |
M324V |
possibly damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,847,703 (GRCm39) |
S198P |
probably damaging |
Het |
| Gcdh |
T |
C |
8: 85,617,700 (GRCm39) |
T202A |
probably benign |
Het |
| Gm6619 |
G |
A |
6: 131,467,471 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,357,871 (GRCm39) |
|
probably benign |
Het |
| Kif2c |
A |
C |
4: 117,037,833 (GRCm39) |
V31G |
possibly damaging |
Het |
| Kpna7 |
T |
C |
5: 144,942,765 (GRCm39) |
I74V |
possibly damaging |
Het |
| Lvrn |
G |
A |
18: 46,997,731 (GRCm39) |
|
probably benign |
Het |
| Man2b2 |
T |
A |
5: 36,973,483 (GRCm39) |
I499F |
probably damaging |
Het |
| Mmd2 |
G |
T |
5: 142,553,693 (GRCm39) |
|
probably benign |
Het |
| Or11h7 |
C |
T |
14: 50,890,855 (GRCm39) |
Q54* |
probably null |
Het |
| Or2r11 |
T |
C |
6: 42,437,773 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or6b1 |
T |
A |
6: 42,815,637 (GRCm39) |
I274N |
possibly damaging |
Het |
| Or8g2b |
T |
A |
9: 39,751,308 (GRCm39) |
Y193N |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,661,800 (GRCm39) |
S1412P |
probably benign |
Het |
| Prr30 |
A |
T |
14: 101,435,827 (GRCm39) |
V245E |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,267 (GRCm39) |
D458V |
probably damaging |
Het |
| Sec22c |
A |
G |
9: 121,517,284 (GRCm39) |
L138P |
probably damaging |
Het |
| Sema6d |
C |
A |
2: 124,506,290 (GRCm39) |
H699Q |
possibly damaging |
Het |
| Tpr |
T |
A |
1: 150,302,718 (GRCm39) |
D1331E |
probably benign |
Het |
| Ttc4 |
A |
G |
4: 106,533,828 (GRCm39) |
Y120H |
probably benign |
Het |
| Tubgcp4 |
A |
G |
2: 121,026,654 (GRCm39) |
|
probably null |
Het |
| Usp19 |
T |
A |
9: 108,371,348 (GRCm39) |
M285K |
probably benign |
Het |
| Vmn1r222 |
A |
T |
13: 23,417,177 (GRCm39) |
F12Y |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,075 (GRCm39) |
K325E |
probably benign |
Het |
| Vps33b |
T |
C |
7: 79,923,973 (GRCm39) |
|
probably benign |
Het |
| Zfp784 |
C |
T |
7: 5,039,351 (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 |
|
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 |
2016-08-02 |
Incidental Mutation