Incidental Mutation 'R1298:Cavin4'
| ID |
158205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cavin4
|
| Ensembl Gene |
ENSMUSG00000028348 |
| Gene Name |
caveolae associated 4 |
| Synonyms |
cavin 4, Murc, 2310039E09Rik |
| MMRRC Submission |
039364-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1298 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
48663514-48673492 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48672593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 346
(V346A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030033]
|
| AlphaFold |
A2AMM0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030033
AA Change: V346A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000030033
Gene: ENSMUSG00000028348
AA Change: V346A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTRF_SDPR
|
27 |
263 |
7.8e-92 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117162
|
| Meta Mutation Damage Score |
0.0588 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.1%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous null mice are viable and fertile with normal cardiac mass and function under physiological conditions. Phenylephrine-induced cardiac hypertrophy is suppressed in null mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
A |
G |
6: 116,404,225 (GRCm39) |
W145R |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,385,157 (GRCm39) |
V267D |
probably benign |
Het |
| Bbs4 |
A |
T |
9: 59,247,096 (GRCm39) |
W135R |
probably damaging |
Het |
| Cdk18 |
A |
C |
1: 132,050,189 (GRCm39) |
|
probably benign |
Het |
| Cyp2j11 |
C |
T |
4: 96,195,497 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,136,118 (GRCm39) |
I1007K |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,852,752 (GRCm39) |
E118G |
probably benign |
Het |
| Eef2 |
C |
CN |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Eif1ad5 |
T |
A |
12: 87,946,853 (GRCm39) |
D98E |
probably benign |
Het |
| Gm14496 |
T |
C |
2: 181,637,885 (GRCm39) |
F320L |
probably benign |
Het |
| Gsdmc3 |
A |
T |
15: 63,732,130 (GRCm39) |
L299M |
probably damaging |
Het |
| H6pd |
T |
C |
4: 150,066,971 (GRCm39) |
I472V |
probably benign |
Het |
| Hao2 |
G |
T |
3: 98,790,985 (GRCm39) |
T63K |
possibly damaging |
Het |
| Jag2 |
C |
T |
12: 112,879,939 (GRCm39) |
|
probably benign |
Het |
| Mapre3 |
A |
G |
5: 31,022,211 (GRCm39) |
Y211C |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,393,334 (GRCm39) |
S2966P |
probably damaging |
Het |
| Nsd3 |
T |
A |
8: 26,169,952 (GRCm39) |
V696E |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,945,723 (GRCm39) |
Y4163H |
possibly damaging |
Het |
| Or11h4b |
A |
T |
14: 50,918,337 (GRCm39) |
Y251* |
probably null |
Het |
| Or12e8 |
G |
A |
2: 87,188,414 (GRCm39) |
A209T |
probably benign |
Het |
| Or6c3 |
G |
T |
10: 129,308,933 (GRCm39) |
C124F |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,156,409 (GRCm39) |
E607G |
probably benign |
Het |
| Pinlyp |
T |
A |
7: 24,244,391 (GRCm39) |
D51V |
probably damaging |
Het |
| Rcbtb2 |
T |
A |
14: 73,399,828 (GRCm39) |
I87N |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,618,442 (GRCm39) |
I459V |
probably benign |
Het |
| Slitrk6 |
T |
C |
14: 110,989,297 (GRCm39) |
N137D |
possibly damaging |
Het |
| Smg1 |
A |
T |
7: 117,767,434 (GRCm39) |
|
probably benign |
Het |
| Sobp |
T |
A |
10: 42,898,331 (GRCm39) |
H418L |
probably damaging |
Het |
| Spock1 |
A |
C |
13: 57,660,563 (GRCm39) |
D180E |
probably benign |
Het |
| Upk3a |
G |
A |
15: 84,904,752 (GRCm39) |
V167I |
probably benign |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,572 (GRCm39) |
V245A |
possibly damaging |
Het |
| Zbtb25 |
T |
C |
12: 76,396,775 (GRCm39) |
E149G |
probably benign |
Het |
| Zgrf1 |
T |
C |
3: 127,377,538 (GRCm39) |
C44R |
possibly damaging |
Het |
|
| Other mutations in Cavin4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1127:Cavin4
|
UTSW |
4 |
48,663,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5389:Cavin4
|
UTSW |
4 |
48,663,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5668:Cavin4
|
UTSW |
4 |
48,672,499 (GRCm39) |
missense |
probably benign |
|
|
R5827:Cavin4
|
UTSW |
4 |
48,672,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6145:Cavin4
|
UTSW |
4 |
48,663,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6180:Cavin4
|
UTSW |
4 |
48,663,917 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6334:Cavin4
|
UTSW |
4 |
48,663,824 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6861:Cavin4
|
UTSW |
4 |
48,672,214 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7038:Cavin4
|
UTSW |
4 |
48,672,479 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7378:Cavin4
|
UTSW |
4 |
48,663,631 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7718:Cavin4
|
UTSW |
4 |
48,671,984 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8909:Cavin4
|
UTSW |
4 |
48,672,421 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9548:Cavin4
|
UTSW |
4 |
48,663,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9603:Cavin4
|
UTSW |
4 |
48,671,999 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTCCAGTGCCGCTCCCTCAAAG -3'
(R):5'- AGCTGCCACGAAAAGGCATGAC -3'
Sequencing Primer
(F):5'- TTCGGAGCCTTAGGAAAGC -3'
(R):5'- GCTGTCAGAGTCATATATTCTCAGG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation