Incidental Mutation 'IGL01871:Gm10718'
| ID |
278960 |
| 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: 0.537)
|
| Stock # |
IGL01871
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,620,513 (GRCm39) |
|
probably null |
Het |
| Aqp7 |
G |
A |
4: 41,045,321 (GRCm39) |
R20* |
probably null |
Het |
| Asxl2 |
G |
T |
12: 3,552,112 (GRCm39) |
V1285L |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,202,561 (GRCm39) |
S688T |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,846,311 (GRCm39) |
I357F |
probably damaging |
Het |
| Clasp1 |
A |
T |
1: 118,498,619 (GRCm39) |
I884F |
probably damaging |
Het |
| Cpne4 |
T |
G |
9: 104,802,956 (GRCm39) |
M200R |
possibly damaging |
Het |
| Cyp2d10 |
T |
A |
15: 82,288,086 (GRCm39) |
D180V |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,670,439 (GRCm39) |
V1042D |
probably damaging |
Het |
| Dlc1 |
G |
A |
8: 37,317,334 (GRCm39) |
T447I |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,412,527 (GRCm39) |
M972T |
possibly damaging |
Het |
| Erbin |
A |
G |
13: 103,971,274 (GRCm39) |
S781P |
probably damaging |
Het |
| Galnt4 |
G |
A |
10: 98,945,103 (GRCm39) |
G276D |
probably damaging |
Het |
| Gmppa |
A |
G |
1: 75,413,661 (GRCm39) |
I41V |
probably damaging |
Het |
| Golga1 |
C |
T |
2: 38,940,210 (GRCm39) |
|
probably benign |
Het |
| H2-Ob |
G |
T |
17: 34,461,519 (GRCm39) |
W86L |
probably damaging |
Het |
| Hnrnpr |
G |
A |
4: 136,066,885 (GRCm39) |
R482H |
unknown |
Het |
| L2hgdh |
T |
C |
12: 69,768,869 (GRCm39) |
E81G |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,723,193 (GRCm39) |
V389A |
possibly damaging |
Het |
| Mxra8 |
A |
G |
4: 155,927,258 (GRCm39) |
T372A |
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,845,923 (GRCm39) |
S593R |
probably benign |
Het |
| Ndufaf1 |
C |
T |
2: 119,488,768 (GRCm39) |
W250* |
probably null |
Het |
| Neb |
T |
C |
2: 52,043,081 (GRCm39) |
E6783G |
probably damaging |
Het |
| Nmt2 |
T |
C |
2: 3,313,711 (GRCm39) |
Y175H |
probably damaging |
Het |
| Olfml2b |
T |
C |
1: 170,489,924 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
T |
A |
11: 71,946,964 (GRCm39) |
M812L |
probably damaging |
Het |
| Pou2f3 |
A |
G |
9: 43,045,768 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,600,951 (GRCm39) |
T2871A |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,028,704 (GRCm39) |
T392A |
possibly damaging |
Het |
| Rhov |
G |
T |
2: 119,101,219 (GRCm39) |
Q71K |
probably benign |
Het |
| Slc22a15 |
T |
C |
3: 101,768,110 (GRCm39) |
|
probably benign |
Het |
| Spaca1 |
T |
A |
4: 34,040,894 (GRCm39) |
N22Y |
probably damaging |
Het |
| Stmnd1 |
A |
G |
13: 46,443,189 (GRCm39) |
E107G |
probably damaging |
Het |
| Tent5b |
A |
G |
4: 133,213,620 (GRCm39) |
I164V |
possibly damaging |
Het |
| Timm22 |
T |
C |
11: 76,298,263 (GRCm39) |
V78A |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 111,676,993 (GRCm39) |
|
probably benign |
Het |
| Utp4 |
A |
C |
8: 107,638,949 (GRCm39) |
K419T |
probably benign |
Het |
| Zfp410 |
T |
C |
12: 84,372,565 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
Incidental Mutation