Incidental Mutation 'R7746:Dvl1'
ID |
596834 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dvl1
|
Ensembl Gene |
ENSMUSG00000029071 |
Gene Name |
dishevelled segment polarity protein 1 |
Synonyms |
|
MMRRC Submission |
045802-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7746 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
155931859-155943760 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 155940696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 439
(I439V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030948
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030948]
[ENSMUST00000030949]
[ENSMUST00000168552]
|
AlphaFold |
P51141 |
PDB Structure |
STRUCTURAL BASIS OF THE RECOGNITION OF THE DISHEVELLED DEP DOMAIN IN THE WNT SIGNALING PATHWAY [SOLUTION NMR]
Solution Structure of mDvl1 PDZ domain [SOLUTION NMR]
NMR structure of the mDvl1 PDZ domain in complex with its inhibitor [SOLUTION NMR]
Crystal structure of Dvl1-DIX(Y17D) mutant [X-RAY DIFFRACTION]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030948
AA Change: I439V
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000030948 Gene: ENSMUSG00000029071 AA Change: I439V
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 |
probably benign
Transcript: ENSMUST00000030949
|
SMART Domains |
Protein: ENSMUSP00000030949 Gene: ENSMUSG00000029072
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
72 |
469 |
2e-79 |
PFAM |
Pfam:NCD3G
|
500 |
552 |
1.9e-16 |
PFAM |
Pfam:7tm_3
|
576 |
821 |
9.6e-28 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168552
AA Change: I439V
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000133137 Gene: ENSMUSG00000029071 AA Change: I439V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
A |
T |
2: 68,559,339 (GRCm39) |
Q184L |
probably benign |
Het |
9030624G23Rik |
T |
G |
12: 24,124,674 (GRCm39) |
S68R |
possibly damaging |
Het |
Acyp1 |
G |
T |
12: 85,325,832 (GRCm39) |
R56S |
unknown |
Het |
Angpt2 |
C |
T |
8: 18,742,080 (GRCm39) |
R492Q |
probably damaging |
Het |
Ankrd36 |
T |
C |
11: 5,637,451 (GRCm39) |
L1340P |
possibly damaging |
Het |
Arhgef33 |
G |
C |
17: 80,654,549 (GRCm39) |
|
probably null |
Het |
Bach1 |
G |
A |
16: 87,526,521 (GRCm39) |
S661N |
probably benign |
Het |
Bik |
T |
C |
15: 83,425,535 (GRCm39) |
I12T |
possibly damaging |
Het |
C3 |
C |
T |
17: 57,525,859 (GRCm39) |
R841H |
probably damaging |
Het |
Cacna1s |
G |
T |
1: 135,996,756 (GRCm39) |
R119L |
probably damaging |
Het |
Cic |
G |
A |
7: 24,988,207 (GRCm39) |
V1632M |
probably damaging |
Het |
Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
Dchs2 |
A |
G |
3: 83,035,364 (GRCm39) |
H37R |
possibly damaging |
Het |
Fat1 |
G |
A |
8: 45,404,670 (GRCm39) |
D474N |
probably damaging |
Het |
Foxs1 |
T |
A |
2: 152,775,028 (GRCm39) |
E8D |
probably benign |
Het |
Garnl3 |
T |
C |
2: 32,882,269 (GRCm39) |
D822G |
probably damaging |
Het |
Gm44501 |
C |
T |
17: 40,889,720 (GRCm39) |
A78V |
possibly damaging |
Het |
Gpr19 |
C |
A |
6: 134,846,355 (GRCm39) |
A443S |
probably damaging |
Het |
Helb |
T |
C |
10: 119,931,007 (GRCm39) |
R729G |
probably null |
Het |
Lnpep |
G |
T |
17: 17,758,824 (GRCm39) |
T840K |
probably benign |
Het |
Mctp2 |
T |
C |
7: 71,835,544 (GRCm39) |
N551S |
probably benign |
Het |
Mgam |
T |
G |
6: 40,645,127 (GRCm39) |
F635V |
probably damaging |
Het |
Mlc1 |
G |
A |
15: 88,848,373 (GRCm39) |
A262V |
probably damaging |
Het |
Msantd5f9 |
C |
T |
4: 73,838,099 (GRCm39) |
S29N |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,415,976 (GRCm39) |
Y2974C |
probably benign |
Het |
Nprl3 |
A |
T |
11: 32,198,150 (GRCm39) |
Y208* |
probably null |
Het |
Or2n1d |
C |
T |
17: 38,646,285 (GRCm39) |
P79L |
probably benign |
Het |
Or8k40 |
A |
T |
2: 86,584,437 (GRCm39) |
L215Q |
probably damaging |
Het |
Pkn2 |
A |
G |
3: 142,499,868 (GRCm39) |
F915S |
probably damaging |
Het |
Pkn3 |
G |
A |
2: 29,980,596 (GRCm39) |
C829Y |
probably benign |
Het |
Polr1a |
C |
T |
6: 71,918,496 (GRCm39) |
P685S |
probably damaging |
Het |
Ppp4r3b |
A |
G |
11: 29,123,352 (GRCm39) |
D16G |
probably benign |
Het |
Ppwd1 |
C |
T |
13: 104,353,714 (GRCm39) |
R348H |
probably damaging |
Het |
Pxdc1 |
T |
C |
13: 34,823,046 (GRCm39) |
T98A |
probably benign |
Het |
Rhbdl1 |
T |
C |
17: 26,055,167 (GRCm39) |
I68V |
probably benign |
Het |
Ror2 |
A |
G |
13: 53,271,261 (GRCm39) |
C365R |
probably damaging |
Het |
Samd4b |
A |
T |
7: 28,103,328 (GRCm39) |
H43Q |
probably damaging |
Het |
Sbf2 |
A |
T |
7: 110,040,633 (GRCm39) |
V398D |
probably benign |
Het |
Sbno2 |
T |
C |
10: 79,894,708 (GRCm39) |
I1012M |
probably damaging |
Het |
Serpinb9h |
A |
T |
13: 33,581,841 (GRCm39) |
I133L |
probably damaging |
Het |
Strn |
T |
C |
17: 78,984,801 (GRCm39) |
T281A |
probably benign |
Het |
Syt4 |
T |
A |
18: 31,577,318 (GRCm39) |
D12V |
probably benign |
Het |
Tafa1 |
T |
C |
6: 96,092,737 (GRCm39) |
|
probably null |
Het |
Tmem45a |
A |
G |
16: 56,646,100 (GRCm39) |
L40P |
probably damaging |
Het |
Tnn |
G |
A |
1: 159,942,255 (GRCm39) |
P1081L |
probably damaging |
Het |
Unc80 |
T |
C |
1: 66,716,544 (GRCm39) |
V2888A |
probably benign |
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 |
R2292: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 |
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'- TAAGAGGTTTGACCCTGGCC -3'
(R):5'- TCAGGAAACCGTGCTTCAGC -3'
Sequencing Primer
(F):5'- CCCTGCTCTCAACCCCATGG -3'
(R):5'- GCATACTGCTGGCATACTTTC -3'
|
Posted On |
2019-11-26 |