Incidental Mutation 'IGL01907:Gm10717'
| ID |
279071 |
| 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 # |
IGL01907
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1g1 |
T |
C |
8: 110,569,975 (GRCm39) |
|
probably benign |
Het |
| Asph |
A |
T |
4: 9,514,643 (GRCm39) |
D491E |
possibly damaging |
Het |
| Cyrib |
A |
G |
15: 63,803,535 (GRCm39) |
|
probably benign |
Het |
| D930020B18Rik |
A |
G |
10: 121,477,915 (GRCm39) |
N47D |
probably damaging |
Het |
| Gad1 |
T |
C |
2: 70,404,470 (GRCm39) |
V120A |
possibly damaging |
Het |
| Grin2b |
T |
G |
6: 135,710,738 (GRCm39) |
E936A |
probably damaging |
Het |
| Iars1 |
T |
C |
13: 49,863,131 (GRCm39) |
F528L |
probably damaging |
Het |
| Iyd |
C |
T |
10: 3,490,407 (GRCm39) |
P38S |
probably damaging |
Het |
| Krt24 |
A |
G |
11: 99,176,030 (GRCm39) |
F2L |
unknown |
Het |
| Mnat1 |
T |
A |
12: 73,319,213 (GRCm39) |
S279T |
probably benign |
Het |
| Mptx1 |
A |
T |
1: 174,160,212 (GRCm39) |
I173L |
probably benign |
Het |
| Or9g20 |
T |
A |
2: 85,629,946 (GRCm39) |
T223S |
probably benign |
Het |
| Per1 |
T |
C |
11: 68,996,425 (GRCm39) |
S810P |
probably benign |
Het |
| Racgap1 |
T |
A |
15: 99,524,214 (GRCm39) |
K398* |
probably null |
Het |
| Rnf133 |
T |
C |
6: 23,649,303 (GRCm39) |
N209D |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,418,730 (GRCm39) |
E794G |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,699,346 (GRCm39) |
|
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,429,794 (GRCm39) |
T465A |
probably benign |
Het |
| Smarca2 |
T |
C |
19: 26,675,865 (GRCm39) |
M1035T |
possibly damaging |
Het |
| Spink5 |
A |
G |
18: 44,129,743 (GRCm39) |
N445D |
probably damaging |
Het |
| Stard3nl |
G |
A |
13: 19,556,759 (GRCm39) |
A127V |
probably damaging |
Het |
| Trim69 |
C |
T |
2: 121,998,142 (GRCm39) |
T38M |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp438 |
G |
A |
18: 5,213,815 (GRCm39) |
A381V |
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 |
3,025,616 (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 |
|
|
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 |
Incidental Mutation