Incidental Mutation 'IGL01918:Gm10718'
ID |
279110 |
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 # |
IGL01918
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933421I07Rik |
T |
C |
7: 42,097,098 (GRCm39) |
Q71R |
probably benign |
Het |
Ankfy1 |
T |
C |
11: 72,631,281 (GRCm39) |
V409A |
probably benign |
Het |
Ap4m1 |
A |
G |
5: 138,171,106 (GRCm39) |
T69A |
probably damaging |
Het |
B3gat2 |
A |
T |
1: 23,884,209 (GRCm39) |
K306* |
probably null |
Het |
Calr |
A |
G |
8: 85,569,479 (GRCm39) |
|
probably benign |
Het |
Ccdc54 |
C |
T |
16: 50,411,215 (GRCm39) |
W17* |
probably null |
Het |
Cd68 |
T |
C |
11: 69,555,927 (GRCm39) |
S204G |
possibly damaging |
Het |
Cep128 |
A |
T |
12: 91,200,984 (GRCm39) |
I342K |
probably damaging |
Het |
Ces1d |
T |
A |
8: 93,904,703 (GRCm39) |
I346L |
probably benign |
Het |
Cfap70 |
T |
A |
14: 20,475,467 (GRCm39) |
D418V |
possibly damaging |
Het |
Cntnap4 |
A |
T |
8: 113,478,866 (GRCm39) |
R197S |
possibly damaging |
Het |
Ddx31 |
G |
T |
2: 28,764,176 (GRCm39) |
V461F |
probably damaging |
Het |
Eps15l1 |
T |
C |
8: 73,121,756 (GRCm39) |
M714V |
possibly damaging |
Het |
Fshb |
A |
T |
2: 106,889,272 (GRCm39) |
F11I |
probably benign |
Het |
Fsip2 |
T |
G |
2: 82,822,482 (GRCm39) |
C6072G |
possibly damaging |
Het |
Fuz |
T |
G |
7: 44,546,383 (GRCm39) |
L93R |
probably damaging |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm8991 |
G |
A |
5: 16,935,678 (GRCm39) |
|
noncoding transcript |
Het |
Itga11 |
C |
A |
9: 62,680,278 (GRCm39) |
N973K |
probably benign |
Het |
Lca5 |
T |
A |
9: 83,305,201 (GRCm39) |
T202S |
probably damaging |
Het |
Lrp1 |
G |
A |
10: 127,390,458 (GRCm39) |
L3053F |
probably damaging |
Het |
Mapk13 |
T |
C |
17: 28,994,304 (GRCm39) |
Y129H |
probably damaging |
Het |
Mast1 |
T |
A |
8: 85,647,838 (GRCm39) |
H512L |
probably damaging |
Het |
Mlip |
T |
C |
9: 77,081,281 (GRCm39) |
N213S |
probably damaging |
Het |
Mtcl1 |
C |
T |
17: 66,675,263 (GRCm39) |
G734R |
possibly damaging |
Het |
Myo9a |
T |
A |
9: 59,686,985 (GRCm39) |
I30N |
probably damaging |
Het |
Or4b13 |
A |
G |
2: 90,082,675 (GRCm39) |
I219T |
probably damaging |
Het |
Pctp |
T |
C |
11: 89,878,162 (GRCm39) |
D124G |
probably benign |
Het |
Phc3 |
A |
G |
3: 30,968,565 (GRCm39) |
|
probably null |
Het |
Plat |
T |
A |
8: 23,270,453 (GRCm39) |
F457I |
possibly damaging |
Het |
Snw1 |
T |
C |
12: 87,502,438 (GRCm39) |
K319E |
probably benign |
Het |
Sox8 |
A |
G |
17: 25,789,111 (GRCm39) |
L129P |
probably damaging |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Stc1 |
A |
T |
14: 69,269,103 (GRCm39) |
|
probably benign |
Het |
Szt2 |
A |
G |
4: 118,241,450 (GRCm39) |
|
probably benign |
Het |
Tmem81 |
T |
A |
1: 132,435,698 (GRCm39) |
V168D |
probably damaging |
Het |
Ttc41 |
C |
A |
10: 86,549,054 (GRCm39) |
Q83K |
probably damaging |
Het |
Ugt1a5 |
T |
C |
1: 88,094,267 (GRCm39) |
V165A |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vps33b |
A |
G |
7: 79,937,560 (GRCm39) |
|
probably null |
Het |
Zap70 |
T |
C |
1: 36,817,868 (GRCm39) |
Y290H |
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 |
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 |