Incidental Mutation 'R1174:Actn3'
ID |
99861 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Actn3
|
Ensembl Gene |
ENSMUSG00000006457 |
Gene Name |
actinin alpha 3 |
Synonyms |
|
MMRRC Submission |
039247-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.478)
|
Stock # |
R1174 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
4911244-4927937 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4914784 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 477
(L477P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006626
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006626]
[ENSMUST00000119694]
|
AlphaFold |
O88990 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006626
AA Change: L477P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006626 Gene: ENSMUSG00000006457 AA Change: L477P
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
30 |
N/A |
INTRINSIC |
CH
|
46 |
146 |
1.4e-23 |
SMART |
CH
|
159 |
258 |
4.83e-27 |
SMART |
low complexity region
|
261 |
272 |
N/A |
INTRINSIC |
Pfam:Spectrin
|
287 |
397 |
5.5e-15 |
PFAM |
SPEC
|
410 |
511 |
3.78e-23 |
SMART |
SPEC
|
525 |
632 |
2.37e-6 |
SMART |
Pfam:Spectrin
|
643 |
746 |
4.1e-15 |
PFAM |
EFh
|
763 |
791 |
7.93e-1 |
SMART |
EFh
|
799 |
827 |
5.96e-1 |
SMART |
efhand_Ca_insen
|
830 |
896 |
2.29e-34 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119694
|
SMART Domains |
Protein: ENSMUSP00000112481 Gene: ENSMUSG00000083282
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
55 |
77 |
N/A |
INTRINSIC |
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
low complexity region
|
145 |
156 |
N/A |
INTRINSIC |
Inhibitor_I29
|
165 |
222 |
5.41e-16 |
SMART |
Pept_C1
|
249 |
460 |
4.2e-93 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138811
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. [provided by RefSeq, Sep 2015] PHENOTYPE: Mice homozygous for a null allele exhibit an increase mitochondria density and a shift from anaerobic to aerobic metabolism in fast muscle fiber that is associated with increased aerobic capacity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610318N02Rik |
T |
A |
16: 16,935,446 (GRCm39) |
H214L |
probably benign |
Het |
Adamts12 |
T |
C |
15: 11,071,843 (GRCm39) |
V129A |
probably benign |
Het |
Agxt2 |
T |
C |
15: 10,373,837 (GRCm39) |
F81S |
probably damaging |
Het |
Alpk1 |
T |
A |
3: 127,474,459 (GRCm39) |
S515C |
probably damaging |
Het |
Aoc1l3 |
C |
A |
6: 48,967,173 (GRCm39) |
P707H |
probably damaging |
Het |
Bivm |
A |
G |
1: 44,165,942 (GRCm39) |
T131A |
probably benign |
Het |
Borcs5 |
T |
A |
6: 134,687,096 (GRCm39) |
N150K |
probably damaging |
Het |
Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
Cox4i1 |
C |
A |
8: 121,400,789 (GRCm39) |
N151K |
probably benign |
Het |
Cpeb4 |
T |
C |
11: 31,870,472 (GRCm39) |
L432P |
probably damaging |
Het |
Dnajb11 |
T |
A |
16: 22,689,423 (GRCm39) |
D281E |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,699,824 (GRCm39) |
S1771P |
possibly damaging |
Het |
Fes |
A |
T |
7: 80,027,699 (GRCm39) |
I815N |
probably damaging |
Het |
Ghrhr |
T |
A |
6: 55,365,254 (GRCm39) |
L416* |
probably null |
Het |
Glipr1l2 |
C |
A |
10: 111,919,371 (GRCm39) |
L31I |
possibly damaging |
Het |
Gm1818 |
A |
G |
12: 48,602,982 (GRCm39) |
|
noncoding transcript |
Het |
Gpr149 |
A |
G |
3: 62,511,888 (GRCm39) |
L37P |
probably damaging |
Het |
Hdac1-ps |
A |
T |
17: 78,799,507 (GRCm39) |
Y166F |
probably benign |
Het |
Hoxa9 |
A |
G |
6: 52,202,693 (GRCm39) |
I131T |
probably damaging |
Het |
Idh1 |
G |
T |
1: 65,200,319 (GRCm39) |
N348K |
probably benign |
Het |
Klf6 |
A |
G |
13: 5,911,711 (GRCm39) |
D25G |
probably benign |
Het |
Laptm4a |
T |
C |
12: 8,986,716 (GRCm39) |
V258A |
probably damaging |
Het |
Lypd6b |
C |
T |
2: 49,833,609 (GRCm39) |
A83V |
possibly damaging |
Het |
Map3k19 |
A |
G |
1: 127,751,617 (GRCm39) |
V578A |
probably benign |
Het |
Mfsd13a |
T |
A |
19: 46,363,125 (GRCm39) |
I511N |
probably benign |
Het |
Mrm3 |
T |
C |
11: 76,140,850 (GRCm39) |
V286A |
probably damaging |
Het |
Muc6 |
C |
T |
7: 141,234,368 (GRCm39) |
G708S |
probably damaging |
Het |
Neurl4 |
T |
C |
11: 69,794,547 (GRCm39) |
|
probably null |
Het |
Pclo |
T |
C |
5: 14,727,660 (GRCm39) |
|
probably benign |
Het |
Pcnt |
A |
T |
10: 76,228,878 (GRCm39) |
|
probably null |
Het |
Pik3r4 |
G |
T |
9: 105,540,373 (GRCm39) |
G754C |
probably damaging |
Het |
Qtrt1 |
A |
G |
9: 21,323,782 (GRCm39) |
T136A |
probably benign |
Het |
Rgs12 |
T |
A |
5: 35,123,809 (GRCm39) |
C531S |
probably benign |
Het |
Rin1 |
C |
A |
19: 5,105,231 (GRCm39) |
Q764K |
probably benign |
Het |
Robo4 |
C |
T |
9: 37,324,348 (GRCm39) |
R959W |
probably damaging |
Het |
Rxfp2 |
T |
C |
5: 149,975,021 (GRCm39) |
V210A |
probably benign |
Het |
Serpinb9d |
C |
T |
13: 33,384,608 (GRCm39) |
P195L |
probably benign |
Het |
Sos1 |
A |
C |
17: 80,753,037 (GRCm39) |
Y323* |
probably null |
Het |
Spmip4 |
T |
A |
6: 50,566,121 (GRCm39) |
K118M |
probably damaging |
Het |
Ssxb8 |
T |
G |
X: 8,556,062 (GRCm39) |
H88P |
probably damaging |
Het |
Tas2r140 |
T |
C |
6: 133,031,834 (GRCm39) |
E308G |
probably benign |
Het |
Tdo2 |
A |
T |
3: 81,881,683 (GRCm39) |
S40R |
probably damaging |
Het |
Tle4 |
C |
T |
19: 14,445,626 (GRCm39) |
V207I |
probably benign |
Het |
Txlnb |
A |
G |
10: 17,718,504 (GRCm39) |
N445S |
probably benign |
Het |
Ubap2l |
A |
T |
3: 89,930,807 (GRCm39) |
S413T |
probably benign |
Het |
Vangl2 |
G |
T |
1: 171,832,353 (GRCm39) |
T501N |
probably damaging |
Het |
Vmn2r12 |
A |
T |
5: 109,240,720 (GRCm39) |
I131N |
probably benign |
Het |
Vwa1 |
C |
T |
4: 155,857,723 (GRCm39) |
G25D |
probably damaging |
Het |
Zfp185 |
A |
T |
X: 72,042,929 (GRCm39) |
E138D |
possibly damaging |
Het |
|
Other mutations in Actn3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
ballooned
|
UTSW |
19 |
4,921,876 (GRCm39) |
missense |
probably damaging |
1.00 |
bamboozled
|
UTSW |
19 |
4,921,683 (GRCm39) |
missense |
probably damaging |
1.00 |
confused
|
UTSW |
19 |
4,915,468 (GRCm39) |
missense |
probably benign |
0.09 |
PIT4480001:Actn3
|
UTSW |
19 |
4,917,605 (GRCm39) |
nonsense |
probably null |
|
R0128:Actn3
|
UTSW |
19 |
4,921,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R1181:Actn3
|
UTSW |
19 |
4,922,638 (GRCm39) |
missense |
probably benign |
0.07 |
R1239:Actn3
|
UTSW |
19 |
4,915,483 (GRCm39) |
unclassified |
probably benign |
|
R1445:Actn3
|
UTSW |
19 |
4,915,483 (GRCm39) |
unclassified |
probably benign |
|
R1698:Actn3
|
UTSW |
19 |
4,912,235 (GRCm39) |
missense |
possibly damaging |
0.55 |
R2127:Actn3
|
UTSW |
19 |
4,921,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R4017:Actn3
|
UTSW |
19 |
4,917,574 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4293:Actn3
|
UTSW |
19 |
4,915,468 (GRCm39) |
missense |
probably benign |
0.09 |
R4482:Actn3
|
UTSW |
19 |
4,913,436 (GRCm39) |
critical splice donor site |
probably null |
|
R4840:Actn3
|
UTSW |
19 |
4,914,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R4868:Actn3
|
UTSW |
19 |
4,914,482 (GRCm39) |
missense |
probably benign |
0.24 |
R5152:Actn3
|
UTSW |
19 |
4,913,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R5349:Actn3
|
UTSW |
19 |
4,917,986 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5420:Actn3
|
UTSW |
19 |
4,915,372 (GRCm39) |
frame shift |
probably null |
|
R5448:Actn3
|
UTSW |
19 |
4,913,239 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5563:Actn3
|
UTSW |
19 |
4,922,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R5753:Actn3
|
UTSW |
19 |
4,914,595 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6457:Actn3
|
UTSW |
19 |
4,921,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R7236:Actn3
|
UTSW |
19 |
4,921,644 (GRCm39) |
missense |
probably benign |
0.07 |
R7470:Actn3
|
UTSW |
19 |
4,917,842 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7980:Actn3
|
UTSW |
19 |
4,917,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R8232:Actn3
|
UTSW |
19 |
4,921,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R8348:Actn3
|
UTSW |
19 |
4,915,361 (GRCm39) |
missense |
possibly damaging |
0.61 |
R8421:Actn3
|
UTSW |
19 |
4,911,741 (GRCm39) |
missense |
probably benign |
|
R8754:Actn3
|
UTSW |
19 |
4,913,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R8803:Actn3
|
UTSW |
19 |
4,914,691 (GRCm39) |
missense |
probably benign |
0.11 |
R8937:Actn3
|
UTSW |
19 |
4,921,798 (GRCm39) |
critical splice donor site |
probably null |
|
R9212:Actn3
|
UTSW |
19 |
4,914,565 (GRCm39) |
missense |
probably benign |
0.39 |
R9255:Actn3
|
UTSW |
19 |
4,921,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R9300:Actn3
|
UTSW |
19 |
4,921,656 (GRCm39) |
missense |
probably benign |
0.17 |
R9534:Actn3
|
UTSW |
19 |
4,913,477 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
|
Posted On |
2014-01-15 |