Incidental Mutation 'R2292:Dvl1'
| ID |
245025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dvl1
|
| Ensembl Gene |
ENSMUSG00000029071 |
| Gene Name |
dishevelled segment polarity protein 1 |
| Synonyms |
|
| MMRRC Submission |
040291-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2292 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155931859-155943760 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 155932273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 28
(V28I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030947]
[ENSMUST00000030948]
[ENSMUST00000168552]
|
| AlphaFold |
P51141 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030947
|
| SMART Domains |
Protein: ENSMUSP00000030947
Gene: ENSMUSG00000029070
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IG
|
38 |
156 |
6.16e-4 |
SMART |
|
IG
|
170 |
291 |
9.71e-2 |
SMART |
|
transmembrane domain
|
340 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
384 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030948
AA Change: V28I
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030948
Gene: ENSMUSG00000029071
AA Change: V28I
| Domain | Start | End | E-Value | Type |
|---|
|
DAX
|
1 |
85 |
2.17e-52 |
SMART |
|
Pfam:Dishevelled
|
144 |
215 |
1.1e-31 |
PFAM |
|
low complexity region
|
217 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
246 |
N/A |
INTRINSIC |
|
PDZ
|
260 |
339 |
3.13e-16 |
SMART |
|
low complexity region
|
380 |
397 |
N/A |
INTRINSIC |
|
DEP
|
425 |
499 |
1.47e-26 |
SMART |
|
Pfam:Dsh_C
|
503 |
685 |
4.2e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126487
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132142
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133184
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141766
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168552
AA Change: V28I
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133137
Gene: ENSMUSG00000029071
AA Change: V28I
| Domain | Start | End | E-Value | Type |
|---|
|
DAX
|
1 |
85 |
2.17e-52 |
SMART |
|
Pfam:Dishevelled
|
90 |
247 |
1.7e-60 |
PFAM |
|
PDZ
|
260 |
339 |
3.13e-16 |
SMART |
|
low complexity region
|
380 |
397 |
N/A |
INTRINSIC |
|
DEP
|
425 |
499 |
1.47e-26 |
SMART |
|
Pfam:Dsh_C
|
503 |
685 |
7.6e-59 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143886
|
| Meta Mutation Damage Score |
0.0748 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the Dishevelled family of proteins. These proteins have an N-terminal Dishevelled/Axin domain, a Dishevelled, EGL-10, Plextrin domain, a central PDZ domain, and a C-terminal domain of approximately 200 amino acids. They regulate both canonical and non-canonical Wnt signaling as well as planar cell polarity pathways. Mice deficient for this gene are viable and fertile but display reduced social interaction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous targeted mutants are viable and fertile, but show a number of behavioral changes including deficient nest-building, less huddling contact during sleep, reduced subordinate responses, and other social interaction deficits. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,562,483 (GRCm39) |
I370T |
probably benign |
Het |
| A2m |
A |
G |
6: 121,650,518 (GRCm39) |
T1209A |
possibly damaging |
Het |
| Als2 |
T |
C |
1: 59,226,544 (GRCm39) |
Q920R |
probably damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,760,743 (GRCm39) |
Y829N |
possibly damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,297,476 (GRCm39) |
F530I |
probably damaging |
Het |
| Arid4a |
G |
T |
12: 71,108,315 (GRCm39) |
G40V |
probably damaging |
Het |
| Ascc2 |
T |
C |
11: 4,629,352 (GRCm39) |
|
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,496,632 (GRCm39) |
V2312I |
probably benign |
Het |
| Dctn6 |
T |
C |
8: 34,559,679 (GRCm39) |
T159A |
probably benign |
Het |
| Ddx55 |
G |
T |
5: 124,706,140 (GRCm39) |
A522S |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 72,998,092 (GRCm39) |
T4110I |
probably damaging |
Het |
| Dym |
A |
G |
18: 75,332,283 (GRCm39) |
T504A |
possibly damaging |
Het |
| E130308A19Rik |
T |
C |
4: 59,690,579 (GRCm39) |
Y138H |
probably damaging |
Het |
| Fgd4 |
A |
T |
16: 16,253,864 (GRCm39) |
C568S |
possibly damaging |
Het |
| Fkbp4 |
A |
C |
6: 128,413,625 (GRCm39) |
V6G |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,127,984 (GRCm39) |
S2299C |
unknown |
Het |
| Gdf2 |
A |
T |
14: 33,667,145 (GRCm39) |
N289I |
possibly damaging |
Het |
| Gpr182 |
A |
G |
10: 127,586,051 (GRCm39) |
I300T |
possibly damaging |
Het |
| Iqcg |
A |
G |
16: 32,870,253 (GRCm39) |
V80A |
probably benign |
Het |
| Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
| Lyst |
T |
G |
13: 13,915,080 (GRCm39) |
F3258C |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,408,574 (GRCm39) |
E870G |
probably damaging |
Het |
| Mphosph10 |
G |
A |
7: 64,035,519 (GRCm39) |
P384L |
probably damaging |
Het |
| Ncoa4 |
T |
G |
14: 31,895,413 (GRCm39) |
L179R |
probably damaging |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,137,188 (GRCm39) |
|
noncoding transcript |
Het |
| Nwd2 |
A |
T |
5: 63,962,917 (GRCm39) |
M834L |
probably benign |
Het |
| Or10a49 |
A |
T |
7: 108,468,223 (GRCm39) |
M46K |
probably benign |
Het |
| Or2w6 |
A |
G |
13: 21,843,001 (GRCm39) |
M164T |
probably damaging |
Het |
| Pccb |
T |
C |
9: 100,876,685 (GRCm39) |
E266G |
probably benign |
Het |
| Pcdhb2 |
T |
A |
18: 37,430,297 (GRCm39) |
|
probably null |
Het |
| Pramel25 |
T |
C |
4: 143,520,446 (GRCm39) |
I66T |
probably benign |
Het |
| Prdm13 |
A |
C |
4: 21,683,914 (GRCm39) |
I119S |
unknown |
Het |
| Tchh |
A |
G |
3: 93,349,689 (GRCm39) |
Y18C |
probably damaging |
Het |
| Tmem192 |
T |
C |
8: 65,411,998 (GRCm39) |
V59A |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,974,916 (GRCm39) |
F92Y |
probably damaging |
Het |
| Trappc11 |
C |
T |
8: 47,958,771 (GRCm39) |
G40D |
probably damaging |
Het |
| Ttc23 |
A |
T |
7: 67,319,535 (GRCm39) |
I132F |
probably benign |
Het |
| Ttc9b |
A |
G |
7: 27,355,405 (GRCm39) |
D225G |
probably benign |
Het |
| Ubr3 |
G |
T |
2: 69,727,604 (GRCm39) |
|
probably benign |
Het |
| Vmn2r75 |
A |
C |
7: 85,798,144 (GRCm39) |
C556W |
probably damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,368,097 (GRCm39) |
V595A |
probably damaging |
Het |
|
| Other mutations in Dvl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Dvl1
|
APN |
4 |
155,938,155 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01930:Dvl1
|
APN |
4 |
155,940,645 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02499:Dvl1
|
APN |
4 |
155,939,237 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03075:Dvl1
|
APN |
4 |
155,939,040 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03089:Dvl1
|
APN |
4 |
155,939,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0525:Dvl1
|
UTSW |
4 |
155,940,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0624:Dvl1
|
UTSW |
4 |
155,939,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0633:Dvl1
|
UTSW |
4 |
155,942,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Dvl1
|
UTSW |
4 |
155,938,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1955:Dvl1
|
UTSW |
4 |
155,942,486 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1991:Dvl1
|
UTSW |
4 |
155,932,273 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2144:Dvl1
|
UTSW |
4 |
155,932,273 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2145:Dvl1
|
UTSW |
4 |
155,932,273 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2156:Dvl1
|
UTSW |
4 |
155,932,273 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2191:Dvl1
|
UTSW |
4 |
155,932,273 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2192:Dvl1
|
UTSW |
4 |
155,932,273 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2290:Dvl1
|
UTSW |
4 |
155,932,273 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2304:Dvl1
|
UTSW |
4 |
155,940,041 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2519:Dvl1
|
UTSW |
4 |
155,940,000 (GRCm39) |
nonsense |
probably null |
|
|
R3082:Dvl1
|
UTSW |
4 |
155,932,316 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3110:Dvl1
|
UTSW |
4 |
155,938,123 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3112:Dvl1
|
UTSW |
4 |
155,938,123 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4775:Dvl1
|
UTSW |
4 |
155,942,584 (GRCm39) |
missense |
probably benign |
|
|
R5384:Dvl1
|
UTSW |
4 |
155,938,143 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6148:Dvl1
|
UTSW |
4 |
155,939,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6563:Dvl1
|
UTSW |
4 |
155,940,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7293:Dvl1
|
UTSW |
4 |
155,940,625 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7746:Dvl1
|
UTSW |
4 |
155,940,696 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8385:Dvl1
|
UTSW |
4 |
155,940,037 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8847:Dvl1
|
UTSW |
4 |
155,942,611 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1176:Dvl1
|
UTSW |
4 |
155,940,068 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Dvl1
|
UTSW |
4 |
155,932,094 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAGCCGCTTTCCCTGG -3'
(R):5'- TTGCCACACTCAGGGTCAC -3'
Sequencing Primer
(F):5'- CGACAGGCGGGGAACGG -3'
(R):5'- TACACCTGCTGTAGATGCGCAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation