Incidental Mutation 'IGL01949:Gm10718'
ID |
279187 |
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 # |
IGL01949
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
C |
A |
15: 94,223,987 (GRCm39) |
R1247L |
probably benign |
Het |
Atp2a3 |
T |
A |
11: 72,872,723 (GRCm39) |
M757K |
probably damaging |
Het |
Dusp5 |
T |
C |
19: 53,525,904 (GRCm39) |
I182T |
probably damaging |
Het |
Fuca1 |
T |
A |
4: 135,650,420 (GRCm39) |
|
probably benign |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Hap1 |
G |
T |
11: 100,239,588 (GRCm39) |
D610E |
probably damaging |
Het |
Hoxa6 |
T |
A |
6: 52,183,511 (GRCm39) |
Y178F |
possibly damaging |
Het |
Ighmbp2 |
A |
C |
19: 3,315,538 (GRCm39) |
D627E |
probably benign |
Het |
Itgae |
T |
C |
11: 73,009,010 (GRCm39) |
I497T |
probably benign |
Het |
Katnip |
G |
A |
7: 125,361,014 (GRCm39) |
W108* |
probably null |
Het |
Kbtbd3 |
A |
G |
9: 4,331,066 (GRCm39) |
D480G |
possibly damaging |
Het |
Kmt2b |
A |
T |
7: 30,276,586 (GRCm39) |
|
probably null |
Het |
Krt5 |
T |
A |
15: 101,619,048 (GRCm39) |
M278L |
probably benign |
Het |
Krtap4-9 |
G |
A |
11: 99,676,391 (GRCm39) |
|
probably benign |
Het |
Myl12a |
T |
C |
17: 71,303,709 (GRCm39) |
D56G |
probably benign |
Het |
Or2g25 |
T |
C |
17: 37,970,357 (GRCm39) |
Y289C |
probably damaging |
Het |
Pdgfra |
C |
A |
5: 75,331,326 (GRCm39) |
H310Q |
probably damaging |
Het |
Pglyrp2 |
G |
T |
17: 32,635,080 (GRCm39) |
|
probably null |
Het |
Polk |
C |
T |
13: 96,620,046 (GRCm39) |
S718N |
probably benign |
Het |
Ppip5k1 |
T |
A |
2: 121,168,341 (GRCm39) |
H687L |
probably benign |
Het |
Pram1 |
A |
T |
17: 33,860,309 (GRCm39) |
Q292L |
probably damaging |
Het |
Prodh2 |
A |
G |
7: 30,209,190 (GRCm39) |
|
probably null |
Het |
Rgs9 |
A |
T |
11: 109,150,660 (GRCm39) |
|
probably null |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Stk-ps2 |
A |
G |
1: 46,069,148 (GRCm39) |
|
noncoding transcript |
Het |
Svep1 |
C |
T |
4: 58,176,006 (GRCm39) |
G298R |
probably damaging |
Het |
Troap |
T |
C |
15: 98,979,102 (GRCm39) |
S341P |
probably benign |
Het |
Ugt3a1 |
T |
C |
15: 9,335,815 (GRCm39) |
F12S |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Zfp236 |
G |
T |
18: 82,642,521 (GRCm39) |
T1123K |
probably 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 |
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 |
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 |