Incidental Mutation 'IGL02609:Gm10717'
ID |
300402 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm10717
|
Ensembl Gene |
ENSMUSG00000095891 |
Gene Name |
predicted gene 10717 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.810)
|
Stock # |
IGL02609
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
3025417-3033289 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 3026287 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 195
(Y195F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096644
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075573]
[ENSMUST00000099042]
[ENSMUST00000099046]
[ENSMUST00000099047]
[ENSMUST00000099051]
[ENSMUST00000177601]
[ENSMUST00000177875]
[ENSMUST00000179264]
[ENSMUST00000179982]
|
AlphaFold |
D3Z1I8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075573
AA Change: Y195F
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000096644 Gene: ENSMUSG00000095891 AA Change: Y195F
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: ENSMUST00000099042
|
SMART Domains |
Protein: ENSMUSP00000096640 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
47 |
9.09e-8 |
PROSPERO |
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
164 |
9.09e-8 |
PROSPERO |
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099046
|
SMART Domains |
Protein: ENSMUSP00000096645 Gene: ENSMUSG00000095186
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
AA Change: T45S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000136755 Gene: ENSMUSG00000095891 AA Change: T45S
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 |
noncoding transcript
Transcript: ENSMUST00000181572
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181957
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179264
|
SMART Domains |
Protein: ENSMUSP00000137451 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
43 |
5.09e-6 |
PROSPERO |
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
179 |
5.09e-6 |
PROSPERO |
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
G |
5: 99,381,854 (GRCm39) |
|
probably benign |
Het |
Aadacl4fm5 |
T |
A |
4: 144,506,307 (GRCm39) |
D128V |
probably damaging |
Het |
Adcy10 |
T |
G |
1: 165,366,044 (GRCm39) |
Y520* |
probably null |
Het |
Agrn |
A |
T |
4: 156,259,680 (GRCm39) |
|
probably benign |
Het |
AI661453 |
A |
T |
17: 47,779,297 (GRCm39) |
|
probably benign |
Het |
Arhgap6 |
A |
G |
X: 167,961,062 (GRCm39) |
|
probably benign |
Het |
Asxl2 |
T |
C |
12: 3,550,018 (GRCm39) |
S587P |
probably damaging |
Het |
B3gntl1 |
A |
G |
11: 121,535,427 (GRCm39) |
|
probably benign |
Het |
Bahcc1 |
T |
C |
11: 120,180,224 (GRCm39) |
F2527L |
possibly damaging |
Het |
Baz2b |
T |
A |
2: 59,747,713 (GRCm39) |
M1317L |
possibly damaging |
Het |
Bcas3 |
A |
T |
11: 85,348,720 (GRCm39) |
K204I |
probably damaging |
Het |
Bpnt2 |
T |
A |
4: 4,767,763 (GRCm39) |
R338* |
probably null |
Het |
C1qtnf1 |
T |
C |
11: 118,338,830 (GRCm39) |
F167L |
probably damaging |
Het |
Cfap58 |
C |
T |
19: 47,963,941 (GRCm39) |
T523M |
possibly damaging |
Het |
Ddb1 |
T |
A |
19: 10,599,830 (GRCm39) |
C680S |
possibly damaging |
Het |
Eef1d |
T |
C |
15: 75,768,162 (GRCm39) |
Q200R |
probably null |
Het |
Gm28557 |
T |
A |
13: 67,219,083 (GRCm39) |
K214* |
probably null |
Het |
Gm8229 |
A |
C |
14: 44,604,082 (GRCm39) |
E90D |
probably benign |
Het |
Hhla1 |
T |
C |
15: 65,802,463 (GRCm39) |
|
probably benign |
Het |
Hivep1 |
C |
T |
13: 42,309,130 (GRCm39) |
H457Y |
probably damaging |
Het |
Htr2c |
T |
C |
X: 145,976,756 (GRCm39) |
|
probably benign |
Het |
Ifi44 |
A |
T |
3: 151,438,134 (GRCm39) |
S384R |
probably damaging |
Het |
Kirrel2 |
T |
C |
7: 30,147,765 (GRCm39) |
T628A |
probably benign |
Het |
Kmt2d |
T |
C |
15: 98,749,674 (GRCm39) |
|
probably benign |
Het |
Larp4b |
T |
A |
13: 9,220,716 (GRCm39) |
I655N |
probably damaging |
Het |
Lrrd1 |
G |
A |
5: 3,908,803 (GRCm39) |
V692I |
probably benign |
Het |
Lypd8l |
A |
T |
11: 58,503,442 (GRCm39) |
C29S |
probably damaging |
Het |
Nes |
T |
C |
3: 87,884,528 (GRCm39) |
I929T |
probably benign |
Het |
Ogfr |
T |
C |
2: 180,234,308 (GRCm39) |
|
probably benign |
Het |
Pwwp3a |
A |
T |
10: 80,065,917 (GRCm39) |
E57V |
probably damaging |
Het |
Rfx2 |
G |
T |
17: 57,112,404 (GRCm39) |
P43Q |
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sh3tc1 |
T |
C |
5: 35,864,516 (GRCm39) |
K495R |
probably damaging |
Het |
Slit1 |
A |
T |
19: 41,590,743 (GRCm39) |
C1310S |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Stk35 |
T |
C |
2: 129,643,721 (GRCm39) |
V235A |
probably damaging |
Het |
Syde2 |
T |
G |
3: 145,704,275 (GRCm39) |
V142G |
probably benign |
Het |
Tgfb3 |
A |
G |
12: 86,124,613 (GRCm39) |
F32L |
probably benign |
Het |
Tmem35a |
T |
C |
X: 133,205,446 (GRCm39) |
F121L |
probably damaging |
Het |
Trp53bp2 |
T |
A |
1: 182,281,289 (GRCm39) |
D963E |
probably benign |
Het |
Vmn1r26 |
A |
G |
6: 57,985,860 (GRCm39) |
S110P |
probably damaging |
Het |
Vpreb1b |
T |
C |
16: 17,798,558 (GRCm39) |
|
probably benign |
Het |
Xrn2 |
A |
T |
2: 146,891,945 (GRCm39) |
T721S |
probably benign |
Het |
|
Other mutations in Gm10717 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01635:Gm10717
|
APN |
9 |
3,025,506 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL01635:Gm10717
|
APN |
9 |
3,025,511 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01864:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01865:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01865:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01866:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01873:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01875:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01877:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01877:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01878:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01879:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01880:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01882:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01886:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01887:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01892:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01893:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01897:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01901:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01903:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01904:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01907:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01907:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01908:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01913:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01919:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01920:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01923:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01925:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01927:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01930:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01931:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01932:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01935:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01941:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01948:Gm10717
|
APN |
9 |
3,025,819 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01949:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01951:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01952:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02106:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02142:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02592:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02802:Gm10717
|
UTSW |
9 |
3,031,999 (GRCm39) |
missense |
probably benign |
|
R0277:Gm10717
|
UTSW |
9 |
3,025,619 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1813:Gm10717
|
UTSW |
9 |
3,026,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R1911:Gm10717
|
UTSW |
9 |
3,026,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R2399:Gm10717
|
UTSW |
9 |
3,025,532 (GRCm39) |
missense |
probably benign |
|
R2874:Gm10717
|
UTSW |
9 |
3,025,532 (GRCm39) |
missense |
probably benign |
|
R3617:Gm10717
|
UTSW |
9 |
3,025,532 (GRCm39) |
missense |
probably benign |
|
R3720:Gm10717
|
UTSW |
9 |
3,025,532 (GRCm39) |
missense |
probably benign |
|
R4988:Gm10717
|
UTSW |
9 |
3,026,368 (GRCm39) |
missense |
probably benign |
0.00 |
R5002:Gm10717
|
UTSW |
9 |
3,025,532 (GRCm39) |
missense |
probably benign |
|
R5117:Gm10717
|
UTSW |
9 |
3,025,625 (GRCm39) |
missense |
probably benign |
0.00 |
R5367:Gm10717
|
UTSW |
9 |
3,026,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R5539:Gm10717
|
UTSW |
9 |
3,030,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R5623:Gm10717
|
UTSW |
9 |
3,026,318 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |