Incidental Mutation 'R1127:Cavin4'
ID |
96276 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cavin4
|
Ensembl Gene |
ENSMUSG00000028348 |
Gene Name |
caveolae associated 4 |
Synonyms |
cavin 4, Murc, 2310039E09Rik |
MMRRC Submission |
039200-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1127 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
48663514-48673492 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48663637 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 6
(S6P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030033
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030032]
[ENSMUST00000030033]
[ENSMUST00000123476]
[ENSMUST00000130834]
[ENSMUST00000141720]
|
AlphaFold |
A2AMM0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030032
|
SMART Domains |
Protein: ENSMUSP00000030032 Gene: ENSMUSG00000028347
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
low complexity region
|
42 |
52 |
N/A |
INTRINSIC |
KAZAL
|
90 |
135 |
6.19e-19 |
SMART |
low complexity region
|
140 |
155 |
N/A |
INTRINSIC |
KAZAL
|
181 |
227 |
4.92e-13 |
SMART |
EGF
|
266 |
303 |
1.33e-1 |
SMART |
transmembrane domain
|
322 |
344 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030033
AA Change: S6P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000030033 Gene: ENSMUSG00000028348 AA Change: S6P
Domain | Start | End | E-Value | Type |
Pfam:PTRF_SDPR
|
27 |
263 |
7.8e-92 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123476
|
SMART Domains |
Protein: ENSMUSP00000115841 Gene: ENSMUSG00000028347
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
low complexity region
|
42 |
52 |
N/A |
INTRINSIC |
KAZAL
|
90 |
135 |
6.19e-19 |
SMART |
low complexity region
|
140 |
155 |
N/A |
INTRINSIC |
KAZAL
|
181 |
227 |
4.92e-13 |
SMART |
EGF
|
266 |
303 |
1.33e-1 |
SMART |
transmembrane domain
|
322 |
344 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130834
|
SMART Domains |
Protein: ENSMUSP00000121740 Gene: ENSMUSG00000028347
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
25 |
N/A |
INTRINSIC |
KAZAL
|
63 |
108 |
6.19e-19 |
SMART |
low complexity region
|
113 |
129 |
N/A |
INTRINSIC |
KAZAL
|
155 |
201 |
4.92e-13 |
SMART |
EGF
|
240 |
277 |
1.33e-1 |
SMART |
transmembrane domain
|
296 |
318 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141720
|
SMART Domains |
Protein: ENSMUSP00000118581 Gene: ENSMUSG00000028347
Domain | Start | End | E-Value | Type |
EGF
|
56 |
93 |
1.33e-1 |
SMART |
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.1%
- 20x: 80.6%
|
Validation Efficiency |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700088E04Rik |
T |
C |
15: 79,019,403 (GRCm39) |
D179G |
probably benign |
Het |
Aadacl2fm2 |
G |
A |
3: 59,659,314 (GRCm39) |
E256K |
probably benign |
Het |
Adh7 |
C |
T |
3: 137,927,490 (GRCm39) |
A12V |
probably benign |
Het |
Ankhd1 |
T |
A |
18: 36,767,399 (GRCm39) |
N1179K |
probably damaging |
Het |
Ankrd50 |
T |
C |
3: 38,511,336 (GRCm39) |
T344A |
probably benign |
Het |
Aplf |
T |
C |
6: 87,623,273 (GRCm39) |
T269A |
probably benign |
Het |
Ces2g |
T |
C |
8: 105,694,094 (GRCm39) |
|
probably null |
Het |
Cyp2c66 |
A |
T |
19: 39,151,812 (GRCm39) |
N176Y |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,522,253 (GRCm39) |
D3980V |
probably damaging |
Het |
Drc7 |
G |
T |
8: 95,799,416 (GRCm39) |
E530D |
probably damaging |
Het |
Dst |
A |
G |
1: 34,314,358 (GRCm39) |
T6434A |
probably damaging |
Het |
Dtx3l |
A |
G |
16: 35,759,127 (GRCm39) |
S41P |
possibly damaging |
Het |
Eef1b2 |
G |
A |
1: 63,218,616 (GRCm39) |
|
probably null |
Het |
Eml3 |
C |
T |
19: 8,913,672 (GRCm39) |
T43I |
probably damaging |
Het |
Fam110b |
T |
A |
4: 5,799,434 (GRCm39) |
L284Q |
probably damaging |
Het |
Gpr33 |
A |
C |
12: 52,070,252 (GRCm39) |
H262Q |
probably damaging |
Het |
Igfals |
T |
G |
17: 25,099,455 (GRCm39) |
L182R |
probably damaging |
Het |
Lamc1 |
A |
G |
1: 153,126,205 (GRCm39) |
F496L |
possibly damaging |
Het |
Muc4 |
T |
A |
16: 32,569,343 (GRCm39) |
H134Q |
possibly damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Nxn |
A |
T |
11: 76,164,895 (GRCm39) |
C205* |
probably null |
Het |
Oga |
G |
A |
19: 45,740,594 (GRCm39) |
R914* |
probably null |
Het |
Or11l3 |
T |
C |
11: 58,516,284 (GRCm39) |
E196G |
probably damaging |
Het |
Or52h9 |
C |
A |
7: 104,202,293 (GRCm39) |
H56N |
possibly damaging |
Het |
Pamr1 |
A |
T |
2: 102,469,698 (GRCm39) |
I415F |
possibly damaging |
Het |
Ppp4r4 |
G |
A |
12: 103,545,327 (GRCm39) |
G200E |
probably damaging |
Het |
Pramel29 |
G |
A |
4: 143,933,694 (GRCm39) |
T471I |
probably damaging |
Het |
Prdm16 |
C |
A |
4: 154,613,256 (GRCm39) |
S57I |
probably damaging |
Het |
Psmd11 |
A |
G |
11: 80,362,410 (GRCm39) |
K157R |
possibly damaging |
Het |
Ptprn2 |
G |
A |
12: 117,175,628 (GRCm39) |
|
probably null |
Het |
Pus7 |
G |
A |
5: 23,973,793 (GRCm39) |
H234Y |
probably benign |
Het |
Rd3l |
A |
G |
12: 111,946,717 (GRCm39) |
Y20H |
probably benign |
Het |
Stk31 |
A |
G |
6: 49,386,141 (GRCm39) |
D160G |
probably damaging |
Het |
Sycp2 |
C |
T |
2: 178,016,159 (GRCm39) |
E768K |
possibly damaging |
Het |
Tango6 |
T |
C |
8: 107,415,527 (GRCm39) |
V116A |
probably benign |
Het |
Ttn |
C |
T |
2: 76,697,574 (GRCm39) |
|
probably benign |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Xylb |
T |
C |
9: 119,212,443 (GRCm39) |
I427T |
probably damaging |
Het |
Zc3h7a |
T |
G |
16: 10,956,939 (GRCm39) |
D890A |
probably damaging |
Het |
|
Other mutations in Cavin4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1298:Cavin4
|
UTSW |
4 |
48,672,593 (GRCm39) |
missense |
probably benign |
0.02 |
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'- TTGCAAGGGCTCATGTTGCAGG -3'
(R):5'- AGCCCGTATTGCTGTGTGACTG -3'
Sequencing Primer
(F):5'- ATGTTGCAGGGCAGTCAC -3'
(R):5'- GGACAGACTTTATCGCGTTAC -3'
|
Posted On |
2014-01-05 |