Incidental Mutation 'IGL01893:Gm10717'
ID |
279024 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm10717
|
Ensembl Gene |
ENSMUSG00000095891 |
Gene Name |
predicted gene 10717 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.810)
|
Stock # |
IGL01893
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
3025417-3033289 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 3025616 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 67
(S67L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096644
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075573]
[ENSMUST00000099042]
[ENSMUST00000099046]
[ENSMUST00000099047]
[ENSMUST00000099051]
[ENSMUST00000177601]
[ENSMUST00000177875]
[ENSMUST00000179264]
[ENSMUST00000179272]
[ENSMUST00000179982]
|
AlphaFold |
D3Z1I8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075573
AA Change: S67L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000096644 Gene: ENSMUSG00000095891 AA Change: S67L
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
41 |
1.06e-10 |
PROSPERO |
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
internal_repeat_1
|
118 |
177 |
1.06e-10 |
PROSPERO |
transmembrane domain
|
200 |
222 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099042
|
SMART Domains |
Protein: ENSMUSP00000096640 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
47 |
9.09e-8 |
PROSPERO |
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
164 |
9.09e-8 |
PROSPERO |
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099046
|
SMART Domains |
Protein: ENSMUSP00000096645 Gene: ENSMUSG00000095186
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
41 |
4.44e-7 |
PROSPERO |
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
177 |
4.44e-7 |
PROSPERO |
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099047
|
SMART Domains |
Protein: ENSMUSP00000096646 Gene: ENSMUSG00000095547
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
40 |
1.58e-10 |
PROSPERO |
transmembrane domain
|
53 |
72 |
N/A |
INTRINSIC |
transmembrane domain
|
77 |
99 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
176 |
1.58e-10 |
PROSPERO |
transmembrane domain
|
199 |
221 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099051
|
SMART Domains |
Protein: ENSMUSP00000096650 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
2 |
38 |
6.22e-5 |
PROSPERO |
transmembrane domain
|
58 |
80 |
N/A |
INTRINSIC |
transmembrane domain
|
90 |
109 |
N/A |
INTRINSIC |
internal_repeat_1
|
118 |
174 |
6.22e-5 |
PROSPERO |
transmembrane domain
|
185 |
207 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177601
|
SMART Domains |
Protein: ENSMUSP00000136755 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
1 |
24 |
2.26e-6 |
PROSPERO |
internal_repeat_1
|
2 |
37 |
2.26e-6 |
PROSPERO |
internal_repeat_1
|
40 |
95 |
2.26e-6 |
PROSPERO |
internal_repeat_2
|
118 |
142 |
2.26e-6 |
PROSPERO |
low complexity region
|
147 |
159 |
N/A |
INTRINSIC |
low complexity region
|
169 |
183 |
N/A |
INTRINSIC |
transmembrane domain
|
186 |
208 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177875
|
SMART Domains |
Protein: ENSMUSP00000137419 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
49 |
1.49e-11 |
PROSPERO |
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
internal_repeat_1
|
118 |
186 |
1.49e-11 |
PROSPERO |
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181572
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181957
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179264
|
SMART Domains |
Protein: ENSMUSP00000137451 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
43 |
5.09e-6 |
PROSPERO |
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
179 |
5.09e-6 |
PROSPERO |
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179272
|
SMART Domains |
Protein: ENSMUSP00000136170 Gene: ENSMUSG00000095547
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
49 |
2.1e-10 |
PROSPERO |
transmembrane domain
|
74 |
96 |
N/A |
INTRINSIC |
internal_repeat_1
|
118 |
186 |
2.1e-10 |
PROSPERO |
transmembrane domain
|
198 |
217 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179982
|
SMART Domains |
Protein: ENSMUSP00000136365 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
35 |
7.76e-13 |
PROSPERO |
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
152 |
7.76e-13 |
PROSPERO |
low complexity region
|
157 |
169 |
N/A |
INTRINSIC |
transmembrane domain
|
198 |
220 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
T |
A |
3: 116,582,198 (GRCm39) |
I275F |
probably damaging |
Het |
Avil |
G |
A |
10: 126,856,415 (GRCm39) |
E815K |
possibly damaging |
Het |
Car9 |
T |
A |
4: 43,510,252 (GRCm39) |
I278N |
probably damaging |
Het |
Cast |
T |
A |
13: 74,875,408 (GRCm39) |
K480* |
probably null |
Het |
Cenpj |
A |
G |
14: 56,790,931 (GRCm39) |
F373L |
probably damaging |
Het |
Cspp1 |
T |
C |
1: 10,204,366 (GRCm39) |
|
probably null |
Het |
Diaph3 |
G |
A |
14: 87,156,288 (GRCm39) |
T675I |
possibly damaging |
Het |
Dip2b |
A |
T |
15: 100,069,101 (GRCm39) |
|
probably benign |
Het |
Dnah1 |
T |
C |
14: 30,988,427 (GRCm39) |
D3425G |
probably damaging |
Het |
Dolk |
A |
G |
2: 30,175,926 (GRCm39) |
Y40H |
probably benign |
Het |
Drosha |
T |
C |
15: 12,866,736 (GRCm39) |
|
probably benign |
Het |
Dusp15 |
A |
G |
2: 152,790,956 (GRCm39) |
|
probably null |
Het |
Edrf1 |
T |
C |
7: 133,258,831 (GRCm39) |
F770L |
probably benign |
Het |
Gabra1 |
T |
C |
11: 42,024,586 (GRCm39) |
K363R |
possibly damaging |
Het |
Glipr1l1 |
A |
C |
10: 111,912,074 (GRCm39) |
T203P |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
H2-Q10 |
T |
C |
17: 35,784,168 (GRCm39) |
S270P |
probably damaging |
Het |
Hipk2 |
A |
T |
6: 38,795,330 (GRCm39) |
M313K |
probably benign |
Het |
Htt |
T |
A |
5: 35,034,174 (GRCm39) |
I1920N |
probably damaging |
Het |
Lsr |
A |
T |
7: 30,661,657 (GRCm39) |
V210E |
possibly damaging |
Het |
Mbtd1 |
A |
T |
11: 93,812,238 (GRCm39) |
I181L |
probably null |
Het |
Mettl16 |
A |
T |
11: 74,696,097 (GRCm39) |
T273S |
possibly damaging |
Het |
Mlst8 |
T |
C |
17: 24,696,961 (GRCm39) |
N74D |
probably benign |
Het |
Nek9 |
A |
G |
12: 85,383,174 (GRCm39) |
I102T |
probably damaging |
Het |
Nme7 |
C |
T |
1: 164,172,850 (GRCm39) |
A187V |
probably damaging |
Het |
Nphp1 |
A |
T |
2: 127,611,564 (GRCm39) |
W261R |
probably damaging |
Het |
Or12e13 |
G |
T |
2: 87,664,207 (GRCm39) |
G275* |
probably null |
Het |
Or2h2 |
A |
G |
17: 37,396,760 (GRCm39) |
L99P |
probably damaging |
Het |
Or4f14 |
A |
T |
2: 111,742,589 (GRCm39) |
S229T |
possibly damaging |
Het |
Orc6 |
A |
G |
8: 86,034,272 (GRCm39) |
D165G |
probably damaging |
Het |
Ovca2 |
A |
G |
11: 75,069,133 (GRCm39) |
S89P |
probably benign |
Het |
Pcdhb12 |
T |
G |
18: 37,570,263 (GRCm39) |
S470A |
probably benign |
Het |
Phactr2 |
T |
C |
10: 13,122,932 (GRCm39) |
T397A |
probably benign |
Het |
Pms2 |
T |
C |
5: 143,860,337 (GRCm39) |
L50P |
probably damaging |
Het |
Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
Serpinb11 |
C |
A |
1: 107,305,387 (GRCm39) |
S254R |
probably benign |
Het |
Serpinb11 |
C |
A |
1: 107,305,388 (GRCm39) |
Q255K |
probably benign |
Het |
Skap2 |
T |
C |
6: 51,851,556 (GRCm39) |
T79A |
probably damaging |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Tbx19 |
A |
T |
1: 164,967,767 (GRCm39) |
S327T |
possibly damaging |
Het |
Themis3 |
A |
G |
17: 66,866,622 (GRCm39) |
L206P |
possibly damaging |
Het |
Tmem132c |
T |
A |
5: 127,540,093 (GRCm39) |
L373Q |
possibly damaging |
Het |
Unc13c |
G |
T |
9: 73,600,648 (GRCm39) |
N1365K |
probably benign |
Het |
Vmn2r106 |
A |
T |
17: 20,497,730 (GRCm39) |
M503K |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r33 |
A |
G |
7: 7,566,776 (GRCm39) |
I112T |
probably benign |
Het |
Vps13a |
A |
C |
19: 16,641,139 (GRCm39) |
W2328G |
probably damaging |
Het |
|
Other mutations in Gm10717 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01635:Gm10717
|
APN |
9 |
3,025,506 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL01635:Gm10717
|
APN |
9 |
3,025,511 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01864:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01865:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01865:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01866:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01873:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01875:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01877:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01877:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01878:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01879:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01880:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01882:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01886:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01887:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01892:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01897:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01901:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01903:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01904:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01907:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01907:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01908:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01913:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01919:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01920:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01923:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01925:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01927:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01930:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01931:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01932:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01935:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01941:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01948:Gm10717
|
APN |
9 |
3,025,819 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01949:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01951:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01952:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02106:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02142:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02592:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02609:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02802:Gm10717
|
UTSW |
9 |
3,031,999 (GRCm39) |
missense |
probably benign |
|
R0277:Gm10717
|
UTSW |
9 |
3,025,619 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1813:Gm10717
|
UTSW |
9 |
3,026,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R1911:Gm10717
|
UTSW |
9 |
3,026,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R2399:Gm10717
|
UTSW |
9 |
3,025,532 (GRCm39) |
missense |
probably benign |
|
R2874:Gm10717
|
UTSW |
9 |
3,025,532 (GRCm39) |
missense |
probably benign |
|
R3617:Gm10717
|
UTSW |
9 |
3,025,532 (GRCm39) |
missense |
probably benign |
|
R3720:Gm10717
|
UTSW |
9 |
3,025,532 (GRCm39) |
missense |
probably benign |
|
R4988:Gm10717
|
UTSW |
9 |
3,026,368 (GRCm39) |
missense |
probably benign |
0.00 |
R5002:Gm10717
|
UTSW |
9 |
3,025,532 (GRCm39) |
missense |
probably benign |
|
R5117:Gm10717
|
UTSW |
9 |
3,025,625 (GRCm39) |
missense |
probably benign |
0.00 |
R5367:Gm10717
|
UTSW |
9 |
3,026,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R5539:Gm10717
|
UTSW |
9 |
3,030,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R5623:Gm10717
|
UTSW |
9 |
3,026,318 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |