Incidental Mutation 'R3617:Gm10717'
ID |
341763 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm10717
|
Ensembl Gene |
ENSMUSG00000095891 |
Gene Name |
predicted gene 10717 |
Synonyms |
|
MMRRC Submission |
040674-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.810)
|
Stock # |
R3617 (G1)
|
Quality Score |
38 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
3025417-3033289 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3025532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 39
(Y39C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096644
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075573]
[ENSMUST00000099042]
[ENSMUST00000099046]
[ENSMUST00000099047]
[ENSMUST00000099051]
[ENSMUST00000177601]
[ENSMUST00000177875]
[ENSMUST00000179272]
[ENSMUST00000179982]
|
AlphaFold |
D3Z1I8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075573
AA Change: Y39C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000096644 Gene: ENSMUSG00000095891 AA Change: Y39C
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
|
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 |
noncoding transcript
Transcript: ENSMUST00000181957
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181572
|
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 |
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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
G |
6: 142,625,015 (GRCm39) |
V460A |
probably damaging |
Het |
Aplf |
T |
C |
6: 87,648,865 (GRCm39) |
I25V |
possibly damaging |
Het |
Ascc3 |
A |
G |
10: 50,494,281 (GRCm39) |
T239A |
probably benign |
Het |
Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
Cbfa2t2 |
A |
T |
2: 154,278,904 (GRCm39) |
|
probably benign |
Het |
Ccdc168 |
T |
C |
1: 44,100,114 (GRCm39) |
D328G |
probably benign |
Het |
Cdkn1c |
C |
T |
7: 143,013,531 (GRCm39) |
|
probably benign |
Het |
Cfap46 |
A |
G |
7: 139,219,515 (GRCm39) |
S1317P |
probably benign |
Het |
Cntln |
C |
T |
4: 84,923,214 (GRCm39) |
Q560* |
probably null |
Het |
Cntn2 |
G |
C |
1: 132,456,361 (GRCm39) |
A161G |
probably benign |
Het |
Crybg1 |
A |
G |
10: 43,832,782 (GRCm39) |
I1991T |
possibly damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,414,189 (GRCm39) |
E952G |
probably damaging |
Het |
Dhx36 |
T |
C |
3: 62,379,428 (GRCm39) |
T887A |
possibly damaging |
Het |
Dhx36 |
A |
G |
3: 62,394,481 (GRCm39) |
F512L |
probably benign |
Het |
Fthl17f |
A |
G |
X: 8,929,862 (GRCm39) |
T153A |
probably benign |
Het |
Gad1-ps |
T |
A |
10: 99,281,260 (GRCm39) |
|
noncoding transcript |
Het |
Gba2 |
C |
T |
4: 43,573,803 (GRCm39) |
R163H |
probably damaging |
Het |
Gm17019 |
A |
T |
5: 15,081,081 (GRCm39) |
M120K |
possibly damaging |
Het |
Helz2 |
C |
T |
2: 180,874,854 (GRCm39) |
R1880H |
probably damaging |
Het |
Ifi204 |
T |
C |
1: 173,583,283 (GRCm39) |
I312V |
possibly damaging |
Het |
Kncn |
T |
C |
4: 115,743,089 (GRCm39) |
F55L |
probably benign |
Het |
Kndc1 |
G |
A |
7: 139,481,976 (GRCm39) |
|
probably benign |
Het |
Nat8f3 |
C |
A |
6: 85,738,670 (GRCm39) |
A31S |
probably benign |
Het |
Ndst4 |
T |
C |
3: 125,231,782 (GRCm39) |
I117T |
probably benign |
Het |
Ndufa9 |
G |
T |
6: 126,826,071 (GRCm39) |
|
probably benign |
Het |
Nup42 |
T |
C |
5: 24,387,325 (GRCm39) |
S372P |
probably benign |
Het |
Pde6a |
A |
G |
18: 61,364,575 (GRCm39) |
|
probably benign |
Het |
Pigw |
T |
C |
11: 84,769,133 (GRCm39) |
I65M |
probably damaging |
Het |
Pip |
A |
G |
6: 41,828,871 (GRCm39) |
T139A |
probably benign |
Het |
Rel |
A |
T |
11: 23,695,780 (GRCm39) |
D202E |
probably damaging |
Het |
Rhot2 |
A |
G |
17: 26,059,955 (GRCm39) |
|
probably benign |
Het |
Sh3rf3 |
G |
A |
10: 58,922,685 (GRCm39) |
R587Q |
possibly damaging |
Het |
Sim1 |
T |
A |
10: 50,785,624 (GRCm39) |
M231K |
probably damaging |
Het |
Slc12a9 |
G |
A |
5: 137,330,759 (GRCm39) |
T47M |
probably damaging |
Het |
Slc4a4 |
A |
G |
5: 89,382,663 (GRCm39) |
D1036G |
probably benign |
Het |
Tas2r143 |
A |
T |
6: 42,377,997 (GRCm39) |
I276F |
probably benign |
Het |
Tgfbr3 |
A |
T |
5: 107,288,485 (GRCm39) |
F392Y |
possibly damaging |
Het |
Tmem266 |
T |
C |
9: 55,307,918 (GRCm39) |
V148A |
probably damaging |
Het |
Ubiad1 |
A |
G |
4: 148,520,817 (GRCm39) |
I269T |
probably benign |
Het |
Vwc2l |
A |
G |
1: 70,768,041 (GRCm39) |
|
probably null |
Het |
Zbtb49 |
G |
A |
5: 38,357,975 (GRCm39) |
|
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 |
IGL02609: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 |
|
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'- AGTGTGTACTTCTCATTTTCCGTG -3'
(R):5'- AATGAGAAACATCCACTTGACAC -3'
Sequencing Primer
(F):5'- GCCATATTCCAGGTCCTACAGTGTG -3'
(R):5'- ATGCACACTGTAGGACCTGG -3'
|
Posted On |
2015-09-23 |