Incidental Mutation 'R5466:Actc1'
| ID |
433231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actc1
|
| Ensembl Gene |
ENSMUSG00000068614 |
| Gene Name |
actin, alpha, cardiac muscle 1 |
| Synonyms |
alphac-actin, Actc-1 |
| MMRRC Submission |
043027-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5466 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
113877763-113883356 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113880979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 82
(D82G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087736
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090269]
[ENSMUST00000149125]
|
| AlphaFold |
P68033 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090269
AA Change: D82G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000087736
Gene: ENSMUSG00000068614
AA Change: D82G
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
7 |
377 |
4.38e-238 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131299
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140041
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154140
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155678
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutation of this gene results in embryonic and postnatal lethality. Animals that survive to birth die within the first 2 weeks and display reduced body size and heart muscle defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
A |
2: 68,541,733 (GRCm39) |
A17E |
probably benign |
Het |
| Aox1 |
G |
C |
1: 58,080,619 (GRCm39) |
E23Q |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,129,789 (GRCm39) |
V124A |
probably benign |
Het |
| Armc5 |
A |
G |
7: 127,839,336 (GRCm39) |
N218S |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,451,712 (GRCm39) |
V192E |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,808,282 (GRCm39) |
E922V |
unknown |
Het |
| Dennd4b |
G |
A |
3: 90,175,807 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,493,007 (GRCm39) |
D1256G |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dpy19l1 |
T |
C |
9: 24,325,684 (GRCm39) |
E707G |
probably damaging |
Het |
| Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
| Fgf11 |
T |
C |
11: 69,690,267 (GRCm39) |
I107V |
probably damaging |
Het |
| Fuca2 |
C |
T |
10: 13,388,441 (GRCm39) |
Q406* |
probably null |
Het |
| Gm10428 |
A |
G |
11: 62,643,932 (GRCm39) |
|
probably benign |
Het |
| Gm17430 |
A |
G |
18: 9,726,228 (GRCm39) |
V148A |
probably benign |
Het |
| Gm5930 |
A |
T |
14: 44,575,014 (GRCm39) |
N57K |
probably damaging |
Het |
| Gucy2c |
T |
A |
6: 136,758,463 (GRCm39) |
K48* |
probably null |
Het |
| Ip6k2 |
C |
T |
9: 108,675,661 (GRCm39) |
R109C |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,075,263 (GRCm39) |
F159I |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,346,658 (GRCm39) |
S1981T |
possibly damaging |
Het |
| Mga |
T |
A |
2: 119,733,178 (GRCm39) |
L9M |
probably damaging |
Het |
| Mov10l1 |
T |
C |
15: 88,869,904 (GRCm39) |
|
probably null |
Het |
| Msrb1 |
A |
T |
17: 24,958,533 (GRCm39) |
H39L |
possibly damaging |
Het |
| Or4c117 |
A |
T |
2: 88,955,477 (GRCm39) |
F199L |
probably benign |
Het |
| Or6b1 |
A |
T |
6: 42,815,027 (GRCm39) |
T71S |
probably benign |
Het |
| Pcdha1 |
G |
A |
18: 37,065,312 (GRCm39) |
A659T |
possibly damaging |
Het |
| Pcm1 |
T |
A |
8: 41,725,499 (GRCm39) |
|
probably null |
Het |
| Rfpl4b |
C |
A |
10: 38,697,394 (GRCm39) |
C69F |
probably damaging |
Het |
| Tnn |
G |
A |
1: 159,948,106 (GRCm39) |
T869I |
possibly damaging |
Het |
| Trp53i11 |
C |
A |
2: 93,029,728 (GRCm39) |
L121I |
possibly damaging |
Het |
| Uimc1 |
A |
G |
13: 55,223,661 (GRCm39) |
S204P |
probably damaging |
Het |
| Usp43 |
A |
T |
11: 67,804,709 (GRCm39) |
N169K |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,217,243 (GRCm39) |
|
probably null |
Het |
| Vmn2r115 |
A |
G |
17: 23,579,030 (GRCm39) |
I834M |
probably damaging |
Het |
| Zbtb21 |
A |
G |
16: 97,751,698 (GRCm39) |
S690P |
possibly damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
|
| Other mutations in Actc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00773:Actc1
|
APN |
2 |
113,878,594 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02985:Actc1
|
APN |
2 |
113,878,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03204:Actc1
|
APN |
2 |
113,880,011 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1201:Actc1
|
UTSW |
2 |
113,879,994 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1463:Actc1
|
UTSW |
2 |
113,880,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4255:Actc1
|
UTSW |
2 |
113,879,697 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4476:Actc1
|
UTSW |
2 |
113,879,707 (GRCm39) |
missense |
probably benign |
|
|
R4581:Actc1
|
UTSW |
2 |
113,880,089 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6395:Actc1
|
UTSW |
2 |
113,879,731 (GRCm39) |
nonsense |
probably null |
|
|
R7915:Actc1
|
UTSW |
2 |
113,880,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Actc1
|
UTSW |
2 |
113,880,881 (GRCm39) |
nonsense |
probably null |
|
|
R8928:Actc1
|
UTSW |
2 |
113,880,881 (GRCm39) |
nonsense |
probably null |
|
|
R9128:Actc1
|
UTSW |
2 |
113,880,946 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9182:Actc1
|
UTSW |
2 |
113,882,494 (GRCm39) |
missense |
probably benign |
|
|
R9188:Actc1
|
UTSW |
2 |
113,880,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9224:Actc1
|
UTSW |
2 |
113,879,710 (GRCm39) |
frame shift |
probably null |
|
|
R9274:Actc1
|
UTSW |
2 |
113,879,752 (GRCm39) |
missense |
probably benign |
|
|
R9677:Actc1
|
UTSW |
2 |
113,878,636 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9758:Actc1
|
UTSW |
2 |
113,879,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Actc1
|
UTSW |
2 |
113,882,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Actc1
|
UTSW |
2 |
113,877,994 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACACACCTGTGGTTCTTCC -3'
(R):5'- TAGCTTAACAAGGCCAGGACC -3'
Sequencing Primer
(F):5'- TACAGAGACAGCACTGCCTGG -3'
(R):5'- AGGCCAGGACCATATTCTTGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation