Incidental Mutation 'IGL01958:Gm10718'
ID |
279241 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm10718
|
Ensembl Gene |
ENSMUSG00000095186 |
Gene Name |
predicted gene 10718 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.509)
|
Stock # |
IGL01958
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
3023547-3025218 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 3025118 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 194
(Y194F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096645
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075573]
[ENSMUST00000099046]
[ENSMUST00000099047]
[ENSMUST00000099051]
[ENSMUST00000177601]
[ENSMUST00000177875]
[ENSMUST00000179272]
[ENSMUST00000179982]
|
AlphaFold |
D3Z1I7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075573
|
SMART Domains |
Protein: ENSMUSP00000096644 Gene: ENSMUSG00000095891
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: ENSMUST00000099046
AA Change: Y194F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000096645 Gene: ENSMUSG00000095186 AA Change: Y194F
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000181957
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181572
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4732465J04Rik |
T |
C |
10: 95,629,659 (GRCm39) |
I29T |
probably damaging |
Het |
Agps |
G |
A |
2: 75,740,045 (GRCm39) |
|
probably null |
Het |
Agxt2 |
A |
G |
15: 10,393,794 (GRCm39) |
|
probably null |
Het |
Ahnak |
T |
C |
19: 8,992,273 (GRCm39) |
V4519A |
possibly damaging |
Het |
Aktip |
T |
C |
8: 91,852,853 (GRCm39) |
D159G |
probably damaging |
Het |
Ankrd44 |
T |
C |
1: 54,806,125 (GRCm39) |
I94V |
probably damaging |
Het |
Asph |
T |
C |
4: 9,474,904 (GRCm39) |
E674G |
possibly damaging |
Het |
Atat1 |
T |
A |
17: 36,219,735 (GRCm39) |
|
probably benign |
Het |
Ccar1 |
G |
A |
10: 62,626,714 (GRCm39) |
A20V |
possibly damaging |
Het |
Cdc26 |
T |
C |
4: 62,321,001 (GRCm39) |
D14G |
probably damaging |
Het |
Cdh15 |
T |
C |
8: 123,586,089 (GRCm39) |
F156S |
probably damaging |
Het |
Dctn1 |
A |
G |
6: 83,168,326 (GRCm39) |
T525A |
possibly damaging |
Het |
Dnah8 |
T |
G |
17: 31,074,869 (GRCm39) |
|
probably benign |
Het |
Dnajc10 |
T |
A |
2: 80,151,648 (GRCm39) |
|
probably benign |
Het |
Dtl |
C |
A |
1: 191,300,489 (GRCm39) |
W125L |
probably damaging |
Het |
Fam3c |
G |
A |
6: 22,318,954 (GRCm39) |
T149I |
probably damaging |
Het |
Fgd6 |
A |
G |
10: 93,974,170 (GRCm39) |
T1304A |
probably benign |
Het |
Gm6578 |
A |
G |
6: 12,099,766 (GRCm39) |
|
noncoding transcript |
Het |
Gnai1 |
A |
G |
5: 18,478,568 (GRCm39) |
F199S |
probably damaging |
Het |
Grb7 |
T |
A |
11: 98,345,480 (GRCm39) |
V480D |
probably damaging |
Het |
Hdc |
A |
G |
2: 126,436,452 (GRCm39) |
L473P |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,479,622 (GRCm39) |
N4614S |
probably benign |
Het |
Il20ra |
A |
G |
10: 19,634,791 (GRCm39) |
D344G |
probably benign |
Het |
Ints1 |
C |
T |
5: 139,745,843 (GRCm39) |
R1342Q |
possibly damaging |
Het |
Itga9 |
T |
A |
9: 118,465,562 (GRCm39) |
|
probably benign |
Het |
Kat14 |
T |
C |
2: 144,236,285 (GRCm39) |
L339P |
probably damaging |
Het |
Klhl22 |
A |
G |
16: 17,594,326 (GRCm39) |
I152V |
probably benign |
Het |
Krtap5-2 |
C |
A |
7: 141,729,459 (GRCm39) |
G74* |
probably null |
Het |
Lrrc59 |
C |
A |
11: 94,529,354 (GRCm39) |
|
probably null |
Het |
Map3k13 |
A |
G |
16: 21,710,873 (GRCm39) |
Q52R |
probably benign |
Het |
Mb21d2 |
A |
G |
16: 28,646,495 (GRCm39) |
|
probably benign |
Het |
Mphosph9 |
A |
T |
5: 124,463,053 (GRCm39) |
|
probably benign |
Het |
Myrf |
A |
G |
19: 10,187,742 (GRCm39) |
|
probably benign |
Het |
Nek11 |
T |
C |
9: 105,177,502 (GRCm39) |
T250A |
probably benign |
Het |
Nek5 |
A |
T |
8: 22,586,842 (GRCm39) |
V323E |
probably benign |
Het |
Nfasc |
A |
T |
1: 132,536,176 (GRCm39) |
C586* |
probably null |
Het |
Nup210l |
T |
A |
3: 90,111,231 (GRCm39) |
L1711Q |
possibly damaging |
Het |
Parp8 |
T |
G |
13: 117,013,108 (GRCm39) |
K644Q |
probably benign |
Het |
Pcnt |
G |
T |
10: 76,269,513 (GRCm39) |
Q252K |
probably damaging |
Het |
Pianp |
A |
G |
6: 124,977,646 (GRCm39) |
T181A |
possibly damaging |
Het |
Pkd1 |
T |
C |
17: 24,799,298 (GRCm39) |
V2839A |
probably damaging |
Het |
Poli |
C |
T |
18: 70,659,657 (GRCm39) |
R58H |
possibly damaging |
Het |
Ptk7 |
T |
C |
17: 46,890,353 (GRCm39) |
D447G |
probably benign |
Het |
Rapgef5 |
A |
G |
12: 117,694,386 (GRCm39) |
I637V |
probably benign |
Het |
Rasip1 |
A |
T |
7: 45,286,188 (GRCm39) |
R804* |
probably null |
Het |
Relt |
A |
G |
7: 100,500,350 (GRCm39) |
V113A |
probably benign |
Het |
Rnf215 |
G |
T |
11: 4,090,317 (GRCm39) |
C345F |
probably damaging |
Het |
Scart2 |
T |
C |
7: 139,854,040 (GRCm39) |
C348R |
probably damaging |
Het |
Scn2a |
A |
G |
2: 65,532,173 (GRCm39) |
D595G |
probably damaging |
Het |
Serpina3k |
G |
A |
12: 104,307,316 (GRCm39) |
V183M |
probably damaging |
Het |
Snapc4 |
T |
C |
2: 26,256,452 (GRCm39) |
|
probably benign |
Het |
Sparcl1 |
A |
T |
5: 104,240,406 (GRCm39) |
D339E |
probably benign |
Het |
Tg |
T |
C |
15: 66,631,335 (GRCm39) |
F535L |
probably benign |
Het |
Zbtb45 |
C |
A |
7: 12,740,203 (GRCm39) |
A471S |
probably benign |
Het |
Zfp106 |
T |
A |
2: 120,365,288 (GRCm39) |
K373M |
probably benign |
Het |
|
Other mutations in Gm10718 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01863:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01865:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01867:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01868:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01869:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01870:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01871:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01874:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01877:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01878:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01879:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01880:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01881:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01883:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01884:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01885:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01886:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01887:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01888:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01890:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01891:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01894:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01895:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01896:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01897:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01898:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01901:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01903:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01904:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01905:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01908:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01909:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01910:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01912:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01917:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01918:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01919:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01920:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01924:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01925:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01926:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01928:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01929:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01932:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01933:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01934:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01937:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01938:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01941:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01944:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01945:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01946:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01947:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01949:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01950:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01951:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01952:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01953:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4131001:Gm10718
|
UTSW |
9 |
3,024,417 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4142001:Gm10718
|
UTSW |
9 |
3,024,417 (GRCm39) |
missense |
probably benign |
0.01 |
R4567:Gm10718
|
UTSW |
9 |
3,023,716 (GRCm39) |
missense |
probably benign |
0.01 |
R4850:Gm10718
|
UTSW |
9 |
3,023,716 (GRCm39) |
missense |
probably benign |
0.01 |
RF039:Gm10718
|
UTSW |
9 |
3,024,385 (GRCm39) |
frame shift |
probably null |
|
|
Posted On |
2015-04-16 |