Incidental Mutation 'IGL02802:Gm10717'
ID |
392093 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm10717
|
Ensembl Gene |
ENSMUSG00000095891 |
Gene Name |
predicted gene 10717 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.826)
|
Stock # |
IGL02802 (G1)
|
Quality Score |
87 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
3025417-3033289 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 3031999 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 127
(P127S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137451
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099042]
[ENSMUST00000099051]
[ENSMUST00000099056]
[ENSMUST00000155807]
[ENSMUST00000177601]
[ENSMUST00000177875]
[ENSMUST00000178641]
[ENSMUST00000179264]
[ENSMUST00000179839]
[ENSMUST00000179982]
|
AlphaFold |
D3Z1I8 |
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: 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: ENSMUST00000099056
|
SMART Domains |
Protein: ENSMUSP00000096655 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
50 |
9.96e-8 |
PROSPERO |
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
223 |
9.96e-8 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155807
|
SMART Domains |
Protein: ENSMUSP00000136448 Gene: ENSMUSG00000096201
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
48 |
2.67e-7 |
PROSPERO |
transmembrane domain
|
77 |
99 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
165 |
2.67e-7 |
PROSPERO |
transmembrane domain
|
186 |
208 |
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: ENSMUST00000178641
|
SMART Domains |
Protein: ENSMUSP00000135988 Gene: ENSMUSG00000096736
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
49 |
1.86e-5 |
PROSPERO |
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
185 |
1.86e-5 |
PROSPERO |
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179264
AA Change: P127S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000137451 Gene: ENSMUSG00000095891 AA Change: P127S
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 |
noncoding transcript
Transcript: ENSMUST00000181572
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181957
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179839
|
SMART Domains |
Protein: ENSMUSP00000136837 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
46 |
1.07e-7 |
PROSPERO |
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
182 |
1.07e-7 |
PROSPERO |
transmembrane domain
|
197 |
219 |
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
A |
C |
1: 130,671,130 (GRCm39) |
T451P |
probably benign |
Het |
Actbl2 |
A |
G |
13: 111,392,310 (GRCm39) |
E215G |
probably damaging |
Het |
Adh6b |
A |
G |
3: 138,058,545 (GRCm39) |
T198A |
possibly damaging |
Het |
Bicd2 |
A |
G |
13: 49,531,804 (GRCm39) |
K349E |
probably damaging |
Het |
Bsnd |
T |
A |
4: 106,349,231 (GRCm39) |
D3V |
probably damaging |
Het |
Cd83 |
T |
A |
13: 43,953,147 (GRCm39) |
L142Q |
probably null |
Het |
Cdh20 |
A |
G |
1: 110,065,655 (GRCm39) |
E643G |
probably damaging |
Het |
Ces1b |
T |
G |
8: 93,783,594 (GRCm39) |
E542A |
possibly damaging |
Het |
Cfhr2 |
A |
G |
1: 139,738,762 (GRCm39) |
|
probably benign |
Het |
Clip1 |
T |
C |
5: 123,769,186 (GRCm39) |
D471G |
probably damaging |
Het |
Cntn5 |
C |
A |
9: 10,048,683 (GRCm39) |
|
probably null |
Het |
Cntnap2 |
A |
T |
6: 46,147,179 (GRCm39) |
D475V |
probably damaging |
Het |
Cntnap5c |
T |
C |
17: 58,612,679 (GRCm39) |
F906S |
probably benign |
Het |
Cobll1 |
A |
T |
2: 64,928,663 (GRCm39) |
S888T |
probably damaging |
Het |
Csf2rb |
G |
A |
15: 78,223,103 (GRCm39) |
R105Q |
probably benign |
Het |
Ctnnd1 |
C |
A |
2: 84,454,806 (GRCm39) |
M1I |
probably null |
Het |
Cxxc1 |
C |
T |
18: 74,352,481 (GRCm39) |
Q354* |
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,304,930 (GRCm39) |
D324G |
possibly damaging |
Het |
Donson |
T |
C |
16: 91,478,196 (GRCm39) |
D435G |
possibly damaging |
Het |
Ephb1 |
T |
C |
9: 101,887,218 (GRCm39) |
K474E |
possibly damaging |
Het |
Erbin |
A |
G |
13: 104,004,638 (GRCm39) |
L130P |
probably damaging |
Het |
Fam221a |
C |
T |
6: 49,355,411 (GRCm39) |
T171I |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,456,332 (GRCm39) |
E5G |
probably damaging |
Het |
Fblim1 |
A |
G |
4: 141,317,431 (GRCm39) |
S85P |
possibly damaging |
Het |
Fhl2 |
A |
T |
1: 43,162,761 (GRCm39) |
C251* |
probably null |
Het |
Glis2 |
T |
C |
16: 4,429,735 (GRCm39) |
|
probably null |
Het |
Gm10715 |
A |
C |
9: 3,038,062 (GRCm39) |
|
probably benign |
Het |
Heatr6 |
T |
C |
11: 83,651,762 (GRCm39) |
L246P |
probably damaging |
Het |
Igkv5-39 |
G |
A |
6: 69,877,457 (GRCm39) |
P100S |
probably benign |
Het |
Jup |
T |
C |
11: 100,269,204 (GRCm39) |
D403G |
probably benign |
Het |
Kank1 |
T |
C |
19: 25,388,963 (GRCm39) |
Y879H |
probably damaging |
Het |
Kcna3 |
G |
A |
3: 106,944,369 (GRCm39) |
E211K |
probably damaging |
Het |
Klc3 |
A |
T |
7: 19,129,049 (GRCm39) |
I440N |
possibly damaging |
Het |
Mmp1b |
T |
C |
9: 7,384,709 (GRCm39) |
T280A |
probably benign |
Het |
Nat3 |
A |
T |
8: 68,000,160 (GRCm39) |
Q13L |
probably benign |
Het |
Nckap1l |
A |
G |
15: 103,372,963 (GRCm39) |
N272S |
probably benign |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Nsd3 |
T |
C |
8: 26,130,922 (GRCm39) |
S96P |
probably damaging |
Het |
Ntaq1 |
A |
G |
15: 58,011,833 (GRCm39) |
S65G |
probably benign |
Het |
Nudt16l1 |
C |
T |
16: 4,757,131 (GRCm39) |
R43C |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,891,310 (GRCm39) |
Q7074L |
unknown |
Het |
Or4p20 |
A |
G |
2: 88,253,832 (GRCm39) |
V179A |
probably benign |
Het |
Or5m12 |
A |
G |
2: 85,734,733 (GRCm39) |
S222P |
probably damaging |
Het |
Or5p78 |
A |
T |
7: 108,211,669 (GRCm39) |
I52F |
probably damaging |
Het |
Or6c206 |
T |
A |
10: 129,097,136 (GRCm39) |
|
probably null |
Het |
Or8b37 |
T |
G |
9: 37,959,345 (GRCm39) |
Y276D |
probably damaging |
Het |
Or8k30 |
T |
A |
2: 86,339,290 (GRCm39) |
N162K |
probably benign |
Het |
P4htm |
C |
T |
9: 108,460,055 (GRCm39) |
D240N |
probably benign |
Het |
Plekhm2 |
A |
T |
4: 141,369,835 (GRCm39) |
|
probably benign |
Het |
Plppr5 |
T |
C |
3: 117,456,228 (GRCm39) |
S250P |
probably damaging |
Het |
Pmis2 |
T |
C |
7: 30,370,919 (GRCm39) |
K12E |
probably benign |
Het |
Ppox |
A |
T |
1: 171,105,066 (GRCm39) |
L374* |
probably null |
Het |
Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Tdo2 |
A |
G |
3: 81,883,004 (GRCm39) |
|
probably benign |
Het |
Tent2 |
A |
T |
13: 93,285,449 (GRCm39) |
N436K |
probably damaging |
Het |
Thbs2 |
A |
G |
17: 14,904,389 (GRCm39) |
I326T |
probably benign |
Het |
Thrap3 |
T |
C |
4: 126,059,157 (GRCm39) |
|
probably benign |
Het |
Ttc6 |
A |
T |
12: 57,622,654 (GRCm39) |
M18L |
probably benign |
Het |
Ttn |
C |
T |
2: 76,604,924 (GRCm39) |
V18337I |
probably damaging |
Het |
Txndc2 |
A |
G |
17: 65,946,601 (GRCm39) |
S34P |
possibly damaging |
Het |
Vps72 |
T |
A |
3: 95,026,545 (GRCm39) |
C163* |
probably null |
Het |
Zfp831 |
T |
A |
2: 174,486,945 (GRCm39) |
I540N |
possibly damaging |
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 |
IGL02609:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCAGGTCCTACAGTGTGCAT -3'
(R):5'- CCACTGTAGGACATGGAATATGGC -3'
Sequencing Primer
(F):5'- AGGTCCTACAGTGTGCATTTCTC -3'
(R):5'- CACACTTTAGGACGTGAAATATGGC -3'
|
Posted On |
2016-06-09 |