Incidental Mutation 'V5622:Gm10719'
| ID |
166133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm10719
|
| Ensembl Gene |
ENSMUSG00000095547 |
| Gene Name |
predicted gene 10719 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
V5622 ()
of strain
521
|
| Quality Score |
114 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
3017408-3021593 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 3021253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075573]
[ENSMUST00000099046]
[ENSMUST00000099047]
[ENSMUST00000099047]
[ENSMUST00000099049]
[ENSMUST00000099050]
[ENSMUST00000177601]
[ENSMUST00000179272]
|
| AlphaFold |
E9Q7T3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075573
|
| SMART Domains |
Protein: ENSMUSP00000096644
Gene: ENSMUSG00000095891
| 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 null
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 null
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 null
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: ENSMUST00000099049
|
| SMART Domains |
Protein: ENSMUSP00000096648
Gene: ENSMUSG00000095547
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
1 |
46 |
2.19e-9 |
PROSPERO |
|
transmembrane domain
|
62 |
84 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
117 |
182 |
2.19e-9 |
PROSPERO |
|
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099050
|
| SMART Domains |
Protein: ENSMUSP00000096649
Gene: ENSMUSG00000074564
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
1 |
46 |
7.44e-11 |
PROSPERO |
|
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
117 |
182 |
7.44e-11 |
PROSPERO |
|
transmembrane domain
|
192 |
214 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
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: 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 |
noncoding transcript
Transcript: ENSMUST00000181572
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181957
|
| Coding Region Coverage |
- 1x: 94.1%
- 3x: 94.1%
- 10x: 94.0%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
C |
T |
4: 148,026,233 (GRCm39) |
S251F |
probably benign |
Het |
| Ccar2 |
G |
T |
14: 70,388,738 (GRCm39) |
L158I |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Gm10720 |
A |
C |
9: 3,015,669 (GRCm39) |
N6H |
probably benign |
Het |
| Gm21738 |
C |
T |
14: 19,417,180 (GRCm38) |
C116Y |
probably damaging |
Het |
| Gm8688 |
T |
G |
8: 100,391,152 (GRCm39) |
|
noncoding transcript |
Het |
| Hjurp |
A |
G |
1: 88,205,247 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
A |
4: 137,261,049 (GRCm39) |
Q1648K |
probably damaging |
Het |
| Hvcn1 |
TGAGGAGGAGGAGGAGGAG |
TGAGGAGGAGGAGGAG |
5: 122,371,602 (GRCm39) |
|
probably benign |
Het |
| Megf11 |
C |
A |
9: 64,597,351 (GRCm39) |
C674* |
probably null |
Het |
| Mroh2a |
C |
T |
1: 88,154,813 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,570,643 (GRCm39) |
S568P |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
| Npm1 |
C |
T |
11: 33,111,186 (GRCm39) |
V60I |
probably benign |
Het |
| Ppp2r5a |
G |
A |
1: 191,091,189 (GRCm39) |
R213W |
probably damaging |
Het |
| Ppp2r5a |
C |
T |
1: 191,091,198 (GRCm39) |
V210I |
probably benign |
Het |
| Trim43b |
T |
C |
9: 88,974,598 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
T |
C |
17: 23,565,201 (GRCm39) |
S363P |
probably damaging |
Het |
| Vmn2r115 |
T |
C |
17: 23,578,333 (GRCm39) |
I602T |
probably benign |
Het |
| Vmn2r117 |
C |
T |
17: 23,696,814 (GRCm39) |
A198T |
probably damaging |
Het |
| Vmn2r117 |
C |
G |
17: 23,698,479 (GRCm39) |
Q31H |
possibly damaging |
Het |
| Vmn2r88 |
C |
G |
14: 51,650,584 (GRCm39) |
T99S |
probably benign |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Zbtb12 |
C |
A |
17: 35,115,277 (GRCm39) |
A354E |
possibly damaging |
Het |
| Zfp180 |
A |
G |
7: 23,781,456 (GRCm39) |
|
probably benign |
Het |
| Zfp268 |
C |
T |
4: 145,311,891 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gm10719 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R4063:Gm10719
|
UTSW |
9 |
3,019,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4559:Gm10719
|
UTSW |
9 |
3,018,945 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4952:Gm10719
|
UTSW |
9 |
3,018,962 (GRCm39) |
missense |
probably benign |
|
|
R5042:Gm10719
|
UTSW |
9 |
3,018,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5521:Gm10719
|
UTSW |
9 |
3,018,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5538:Gm10719
|
UTSW |
9 |
3,018,962 (GRCm39) |
missense |
probably benign |
|
|
R6215:Gm10719
|
UTSW |
9 |
3,019,040 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
|
| Posted On |
2014-04-07 |
Incidental Mutation