Incidental Mutation 'IGL01924:Gm10718'
ID |
279129 |
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 # |
IGL01924
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
C |
T |
5: 114,362,047 (GRCm39) |
|
probably benign |
Het |
Adamts13 |
A |
G |
2: 26,886,595 (GRCm39) |
E938G |
possibly damaging |
Het |
Aox1 |
C |
T |
1: 58,326,902 (GRCm39) |
T167I |
possibly damaging |
Het |
Apba3 |
G |
T |
10: 81,108,907 (GRCm39) |
A557S |
probably benign |
Het |
Atad2b |
T |
C |
12: 5,084,093 (GRCm39) |
L1382P |
probably damaging |
Het |
Atrn |
C |
T |
2: 130,777,485 (GRCm39) |
T178I |
probably damaging |
Het |
B4galnt1 |
A |
G |
10: 127,002,630 (GRCm39) |
S88G |
probably benign |
Het |
Baz2b |
T |
C |
2: 59,765,615 (GRCm39) |
K887E |
probably damaging |
Het |
Castor2 |
T |
C |
5: 134,164,441 (GRCm39) |
F134S |
probably benign |
Het |
Ccdc162 |
A |
C |
10: 41,445,883 (GRCm39) |
F430V |
probably damaging |
Het |
Cdc42bpb |
T |
A |
12: 111,283,887 (GRCm39) |
|
probably benign |
Het |
Cfhr4 |
G |
A |
1: 139,666,944 (GRCm39) |
L444F |
probably damaging |
Het |
Chit1 |
A |
G |
1: 134,077,148 (GRCm39) |
D317G |
probably benign |
Het |
Chrnb1 |
A |
T |
11: 69,685,845 (GRCm39) |
|
probably benign |
Het |
Cobl |
G |
T |
11: 12,204,596 (GRCm39) |
T620K |
probably benign |
Het |
Creld1 |
T |
C |
6: 113,460,921 (GRCm39) |
F20L |
probably benign |
Het |
Csmd2 |
A |
T |
4: 128,453,740 (GRCm39) |
D3475V |
unknown |
Het |
Cyp3a57 |
A |
G |
5: 145,309,439 (GRCm39) |
D259G |
probably benign |
Het |
Dbnl |
A |
G |
11: 5,747,142 (GRCm39) |
Y224C |
probably damaging |
Het |
Det1 |
A |
T |
7: 78,493,571 (GRCm39) |
C144* |
probably null |
Het |
Fbxo47 |
G |
T |
11: 97,746,986 (GRCm39) |
A360D |
probably damaging |
Het |
Frrs1 |
G |
A |
3: 116,678,888 (GRCm39) |
G237R |
probably damaging |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
Gria2 |
T |
C |
3: 80,617,638 (GRCm39) |
T372A |
probably benign |
Het |
Hmcn2 |
A |
T |
2: 31,288,929 (GRCm39) |
Q2246L |
probably benign |
Het |
Ide |
T |
C |
19: 37,249,563 (GRCm39) |
M930V |
unknown |
Het |
Kdm5a |
T |
C |
6: 120,371,216 (GRCm39) |
|
probably null |
Het |
Khnyn |
A |
G |
14: 56,132,426 (GRCm39) |
T625A |
probably benign |
Het |
Lrrtm1 |
T |
C |
6: 77,221,169 (GRCm39) |
F209L |
possibly damaging |
Het |
Med13 |
C |
A |
11: 86,199,522 (GRCm39) |
|
probably benign |
Het |
Myom2 |
A |
G |
8: 15,119,685 (GRCm39) |
E147G |
probably benign |
Het |
Myrip |
T |
A |
9: 120,217,330 (GRCm39) |
V88D |
probably damaging |
Het |
Nbeal2 |
T |
C |
9: 110,460,482 (GRCm39) |
H1784R |
probably benign |
Het |
Nlrp4e |
T |
A |
7: 23,020,255 (GRCm39) |
C247* |
probably null |
Het |
Nup54 |
G |
A |
5: 92,572,294 (GRCm39) |
P252L |
probably benign |
Het |
Or51ag1 |
A |
G |
7: 103,156,003 (GRCm39) |
I50T |
possibly damaging |
Het |
Otoa |
C |
A |
7: 120,705,191 (GRCm39) |
N244K |
probably damaging |
Het |
Pbrm1 |
G |
A |
14: 30,804,561 (GRCm39) |
R960H |
probably damaging |
Het |
Ptcd3 |
A |
T |
6: 71,875,411 (GRCm39) |
N190K |
probably damaging |
Het |
Rhobtb1 |
T |
A |
10: 69,106,134 (GRCm39) |
L233H |
probably damaging |
Het |
Sec24c |
T |
A |
14: 20,739,757 (GRCm39) |
F545I |
probably damaging |
Het |
Slc6a15 |
T |
C |
10: 103,240,686 (GRCm39) |
|
probably null |
Het |
Slitrk1 |
G |
A |
14: 109,148,671 (GRCm39) |
A680V |
probably benign |
Het |
Smpd1 |
C |
T |
7: 105,204,655 (GRCm39) |
S178L |
probably benign |
Het |
Spindoc |
A |
G |
19: 7,360,042 (GRCm39) |
L42P |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,544,419 (GRCm39) |
E2145G |
probably damaging |
Het |
Tmem144 |
G |
T |
3: 79,746,501 (GRCm39) |
A18E |
probably damaging |
Het |
Tmem213 |
A |
T |
6: 38,086,373 (GRCm39) |
S10C |
possibly damaging |
Het |
Trav6-3 |
A |
T |
14: 53,667,800 (GRCm39) |
I102L |
probably benign |
Het |
Trip11 |
T |
G |
12: 101,853,143 (GRCm39) |
N483T |
possibly damaging |
Het |
Unc13b |
C |
T |
4: 43,239,385 (GRCm39) |
R1056* |
probably null |
Het |
Wdr27 |
T |
G |
17: 15,137,488 (GRCm39) |
K433N |
probably damaging |
Het |
Wls |
C |
A |
3: 159,607,080 (GRCm39) |
S189* |
probably null |
Het |
Yeats2 |
A |
G |
16: 20,024,917 (GRCm39) |
N706D |
probably damaging |
Het |
Zbp1 |
A |
G |
2: 173,054,047 (GRCm39) |
V158A |
probably benign |
Het |
Zfp595 |
G |
T |
13: 67,465,847 (GRCm39) |
H139N |
possibly damaging |
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 |
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 |
IGL01958: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 |