Incidental Mutation 'R2399:Gm10717'
| ID |
248631 |
| 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 # |
R2399 (G1)
|
| Quality Score |
94 |
|
Status
|
Not 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: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 88,120,338 (GRCm39) |
E365G |
probably damaging |
Het |
| Abtb1 |
G |
A |
6: 88,815,720 (GRCm39) |
T221M |
possibly damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,835,785 (GRCm39) |
I510N |
probably benign |
Het |
| Atr |
T |
A |
9: 95,753,652 (GRCm39) |
H751Q |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,774,444 (GRCm39) |
D1650G |
probably benign |
Het |
| Cd93 |
A |
G |
2: 148,284,071 (GRCm39) |
I425T |
probably benign |
Het |
| Dpep2 |
A |
G |
8: 106,716,224 (GRCm39) |
S135P |
probably damaging |
Het |
| Heatr4 |
T |
C |
12: 84,027,107 (GRCm39) |
H50R |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,650,358 (GRCm39) |
Y135H |
probably damaging |
Het |
| Kat6b |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
14: 21,712,417 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
T |
C |
16: 48,957,952 (GRCm39) |
I923T |
probably damaging |
Het |
| Or5b108 |
T |
A |
19: 13,168,709 (GRCm39) |
I226K |
probably benign |
Het |
| Or7e170 |
C |
T |
9: 19,795,220 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or7g16 |
T |
A |
9: 18,727,323 (GRCm39) |
D89V |
probably benign |
Het |
| Styxl1 |
C |
T |
5: 135,776,635 (GRCm39) |
E318K |
possibly damaging |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Zc3h7a |
G |
A |
16: 10,965,265 (GRCm39) |
R623C |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,030,974 (GRCm39) |
K989E |
probably 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 |
|
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 |
|
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'- CAAGTTGTCAAGTGGATGTTTCTCA -3'
(R):5'- ACACTTTAGGACATGAAATATGGCG -3'
Sequencing Primer
(F):5'- GCCATATTCAAAGTCCTACAGTGG -3'
(R):5'- AAAAGGTGGAAAATTTAGAAATGTCC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation