Incidental Mutation 'IGL01933:Gm10718'
ID |
279154 |
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 # |
IGL01933
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
C |
A |
9: 57,164,650 (GRCm39) |
V575F |
possibly damaging |
Het |
Abca2 |
T |
A |
2: 25,334,123 (GRCm39) |
V1800E |
probably damaging |
Het |
Acacb |
C |
T |
5: 114,322,251 (GRCm39) |
|
probably benign |
Het |
Adam34 |
C |
A |
8: 44,104,569 (GRCm39) |
G359W |
probably damaging |
Het |
Ankrd42 |
G |
A |
7: 92,254,493 (GRCm39) |
T372I |
probably benign |
Het |
Apc2 |
A |
G |
10: 80,147,574 (GRCm39) |
D847G |
probably damaging |
Het |
Arap3 |
T |
A |
18: 38,111,506 (GRCm39) |
T1137S |
possibly damaging |
Het |
Atp10b |
A |
C |
11: 43,085,457 (GRCm39) |
T279P |
probably damaging |
Het |
Bmp2 |
T |
A |
2: 133,396,578 (GRCm39) |
M78K |
possibly damaging |
Het |
Ccdc61 |
T |
G |
7: 18,626,483 (GRCm39) |
M369L |
probably benign |
Het |
Cep78 |
A |
T |
19: 15,933,304 (GRCm39) |
I758N |
probably benign |
Het |
Ces2a |
A |
G |
8: 105,468,047 (GRCm39) |
*526W |
probably null |
Het |
Cgnl1 |
C |
T |
9: 71,552,765 (GRCm39) |
|
probably benign |
Het |
Clec14a |
A |
G |
12: 58,315,104 (GRCm39) |
Y173H |
probably damaging |
Het |
Cntn4 |
G |
A |
6: 106,671,345 (GRCm39) |
S976N |
probably damaging |
Het |
Col6a4 |
G |
A |
9: 105,937,313 (GRCm39) |
T1401I |
probably benign |
Het |
D5Ertd579e |
T |
C |
5: 36,773,100 (GRCm39) |
T432A |
probably benign |
Het |
Dixdc1 |
G |
A |
9: 50,614,558 (GRCm39) |
R163* |
probably null |
Het |
Dmxl1 |
C |
A |
18: 50,010,852 (GRCm39) |
T1003K |
probably benign |
Het |
Dnah1 |
G |
A |
14: 31,032,872 (GRCm39) |
R388W |
probably benign |
Het |
Eci3 |
C |
T |
13: 35,132,772 (GRCm39) |
A202T |
probably damaging |
Het |
Egr2 |
T |
C |
10: 67,376,024 (GRCm39) |
S220P |
probably damaging |
Het |
Fntb |
C |
T |
12: 76,966,880 (GRCm39) |
P405S |
probably benign |
Het |
Gm26602 |
C |
A |
10: 79,746,955 (GRCm39) |
R236L |
probably benign |
Het |
Hao2 |
T |
C |
3: 98,787,648 (GRCm39) |
|
probably benign |
Het |
Irgm2 |
A |
T |
11: 58,110,783 (GRCm39) |
N170I |
possibly damaging |
Het |
Klhl20 |
G |
A |
1: 160,934,357 (GRCm39) |
R221W |
probably damaging |
Het |
Kmt2b |
A |
G |
7: 30,268,939 (GRCm39) |
|
probably null |
Het |
Lrrc46 |
C |
T |
11: 96,926,354 (GRCm39) |
E181K |
probably benign |
Het |
Lztr1 |
T |
A |
16: 17,338,455 (GRCm39) |
V226E |
probably damaging |
Het |
Myh9 |
G |
T |
15: 77,665,418 (GRCm39) |
D684E |
probably benign |
Het |
Myo7a |
T |
C |
7: 97,732,349 (GRCm39) |
T713A |
probably damaging |
Het |
Nrap |
G |
T |
19: 56,377,250 (GRCm39) |
N62K |
probably damaging |
Het |
Or51a10 |
T |
C |
7: 103,699,021 (GRCm39) |
Y180C |
probably damaging |
Het |
Or5an1 |
A |
T |
19: 12,261,069 (GRCm39) |
Y219F |
probably damaging |
Het |
Osbp2 |
T |
C |
11: 3,662,016 (GRCm39) |
D708G |
probably damaging |
Het |
Pcnx2 |
G |
A |
8: 126,488,393 (GRCm39) |
P1717L |
probably damaging |
Het |
Pex1 |
A |
G |
5: 3,683,789 (GRCm39) |
D1095G |
probably damaging |
Het |
Ptpn3 |
T |
C |
4: 57,197,576 (GRCm39) |
H771R |
probably benign |
Het |
R3hcc1l |
G |
A |
19: 42,551,389 (GRCm39) |
A129T |
probably damaging |
Het |
Rbm15 |
G |
A |
3: 107,238,419 (GRCm39) |
R660W |
probably damaging |
Het |
Recql |
C |
T |
6: 142,310,364 (GRCm39) |
V489M |
probably benign |
Het |
Sash1 |
A |
T |
10: 8,626,897 (GRCm39) |
S162R |
probably damaging |
Het |
Sec11a |
T |
C |
7: 80,584,810 (GRCm39) |
I42M |
probably benign |
Het |
Slc25a23 |
G |
A |
17: 57,359,813 (GRCm39) |
Q61* |
probably null |
Het |
Son |
A |
T |
16: 91,454,903 (GRCm39) |
M1217L |
probably benign |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Srgap2 |
T |
C |
1: 131,339,593 (GRCm39) |
N123S |
probably damaging |
Het |
Ssh1 |
T |
C |
5: 114,088,441 (GRCm39) |
|
probably benign |
Het |
St13 |
T |
C |
15: 81,273,899 (GRCm39) |
|
probably null |
Het |
St3gal3 |
A |
T |
4: 117,889,072 (GRCm39) |
D57E |
probably damaging |
Het |
Stk4 |
C |
T |
2: 163,940,505 (GRCm39) |
|
probably benign |
Het |
Tln1 |
T |
A |
4: 43,539,508 (GRCm39) |
T1605S |
probably benign |
Het |
Tln1 |
T |
C |
4: 43,555,894 (GRCm39) |
T107A |
possibly damaging |
Het |
Tmem135 |
G |
T |
7: 88,793,065 (GRCm39) |
|
probably benign |
Het |
Tmtc3 |
A |
G |
10: 100,283,467 (GRCm39) |
M696T |
probably benign |
Het |
Trbv28 |
T |
A |
6: 41,248,761 (GRCm39) |
L97Q |
probably damaging |
Het |
Trpc4ap |
A |
T |
2: 155,481,455 (GRCm39) |
F534I |
possibly damaging |
Het |
Trpm8 |
T |
C |
1: 88,254,127 (GRCm39) |
Y117H |
probably damaging |
Het |
Zfp608 |
T |
C |
18: 55,120,871 (GRCm39) |
T239A |
probably benign |
Het |
Zmym5 |
T |
G |
14: 57,041,617 (GRCm39) |
H162P |
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 |
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 |