Incidental Mutation 'IGL01938:Gm10718'
| ID |
279179 |
| 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 # |
IGL01938
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
C |
T |
5: 88,119,567 (GRCm39) |
T108I |
probably damaging |
Het |
| Adam34 |
A |
G |
8: 44,104,053 (GRCm39) |
Y531H |
probably damaging |
Het |
| Arhgef10 |
T |
A |
8: 15,041,062 (GRCm39) |
N1077K |
probably benign |
Het |
| BC034090 |
G |
T |
1: 155,108,338 (GRCm39) |
|
probably null |
Het |
| Cachd1 |
A |
G |
4: 100,831,325 (GRCm39) |
I706V |
possibly damaging |
Het |
| Cebpz |
A |
T |
17: 79,242,390 (GRCm39) |
C421* |
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,705,614 (GRCm39) |
V699A |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,886,885 (GRCm39) |
N935S |
unknown |
Het |
| Dnah1 |
C |
T |
14: 31,005,844 (GRCm39) |
V2312I |
probably benign |
Het |
| Ebf3 |
T |
C |
7: 136,911,047 (GRCm39) |
T156A |
probably damaging |
Het |
| Ern1 |
A |
G |
11: 106,302,483 (GRCm39) |
V457A |
probably benign |
Het |
| Flii |
T |
C |
11: 60,605,942 (GRCm39) |
Y1177C |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,279,707 (GRCm39) |
K197M |
probably damaging |
Het |
| Glb1l3 |
A |
G |
9: 26,729,825 (GRCm39) |
F515S |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,743,603 (GRCm39) |
I1233T |
probably damaging |
Het |
| Kptn |
A |
G |
7: 15,858,714 (GRCm39) |
Y286C |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,812,009 (GRCm39) |
N807S |
possibly damaging |
Het |
| Mki67 |
C |
T |
7: 135,296,059 (GRCm39) |
V2992M |
probably benign |
Het |
| Myocd |
A |
G |
11: 65,077,914 (GRCm39) |
L627P |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,417,484 (GRCm39) |
I40T |
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,565,365 (GRCm39) |
T232A |
probably benign |
Het |
| Nipsnap1 |
C |
T |
11: 4,843,134 (GRCm39) |
H269Y |
probably benign |
Het |
| Nlrp4g |
G |
A |
9: 124,349,068 (GRCm38) |
|
noncoding transcript |
Het |
| Nup188 |
A |
T |
2: 30,219,371 (GRCm39) |
R862S |
probably benign |
Het |
| Or1e16 |
T |
A |
11: 73,286,471 (GRCm39) |
I126F |
probably damaging |
Het |
| Or4a80 |
G |
T |
2: 89,582,692 (GRCm39) |
A160D |
probably benign |
Het |
| Or6c33 |
T |
A |
10: 129,853,981 (GRCm39) |
Y250* |
probably null |
Het |
| Pde4c |
A |
T |
8: 71,202,027 (GRCm39) |
K549N |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,361,933 (GRCm39) |
T992A |
probably benign |
Het |
| Pramel32 |
A |
G |
4: 88,547,600 (GRCm39) |
S24P |
possibly damaging |
Het |
| Smyd2 |
A |
G |
1: 189,621,079 (GRCm39) |
V213A |
probably benign |
Het |
| Sult1c2 |
C |
T |
17: 54,138,954 (GRCm39) |
V208M |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,530,042 (GRCm39) |
L3277P |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,056,056 (GRCm39) |
V304A |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,528,676 (GRCm39) |
|
probably null |
Het |
| Zscan29 |
C |
T |
2: 120,996,690 (GRCm39) |
A344T |
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 |
|
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