Incidental Mutation 'R5448:Actn3'
ID |
429196 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Actn3
|
Ensembl Gene |
ENSMUSG00000006457 |
Gene Name |
actinin alpha 3 |
Synonyms |
|
MMRRC Submission |
043013-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.478)
|
Stock # |
R5448 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
4911244-4927937 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4913239 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 699
(D699G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006626
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006626]
[ENSMUST00000119694]
|
AlphaFold |
O88990 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006626
AA Change: D699G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000006626 Gene: ENSMUSG00000006457 AA Change: D699G
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
C1galt1 |
C |
T |
6: 7,866,658 (GRCm39) |
A168V |
possibly damaging |
Het |
Ccdc180 |
A |
T |
4: 45,920,913 (GRCm39) |
E953V |
probably damaging |
Het |
Ccdc88b |
T |
A |
19: 6,831,948 (GRCm39) |
D411V |
probably damaging |
Het |
Cdadc1 |
T |
A |
14: 59,811,275 (GRCm39) |
I412L |
possibly damaging |
Het |
Clip2 |
T |
C |
5: 134,542,902 (GRCm39) |
N424D |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Fbxo38 |
A |
T |
18: 62,655,528 (GRCm39) |
I386N |
possibly damaging |
Het |
Gm9887 |
C |
A |
12: 69,418,865 (GRCm39) |
|
probably benign |
Het |
Itgae |
T |
C |
11: 73,024,734 (GRCm39) |
|
probably null |
Het |
Klhl2 |
C |
A |
8: 65,275,642 (GRCm39) |
|
probably null |
Het |
Krt1 |
T |
A |
15: 101,757,464 (GRCm39) |
K249* |
probably null |
Het |
L3mbtl2 |
T |
C |
15: 81,568,534 (GRCm39) |
Y513H |
possibly damaging |
Het |
Maml2 |
A |
C |
9: 13,617,763 (GRCm39) |
S370R |
probably damaging |
Het |
Or1e35 |
T |
C |
11: 73,797,437 (GRCm39) |
N294D |
probably damaging |
Het |
Or4c112 |
T |
G |
2: 88,853,845 (GRCm39) |
L167F |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,614,888 (GRCm39) |
T188A |
probably benign |
Het |
Pde6c |
A |
G |
19: 38,121,623 (GRCm39) |
E77G |
probably damaging |
Het |
Pgr |
A |
G |
9: 8,922,638 (GRCm39) |
I603V |
probably benign |
Het |
Plce1 |
T |
C |
19: 38,768,361 (GRCm39) |
V2212A |
probably damaging |
Het |
Ppl |
C |
T |
16: 4,925,430 (GRCm39) |
A70T |
probably benign |
Het |
Prpf40a |
G |
T |
2: 53,046,938 (GRCm39) |
T266N |
possibly damaging |
Het |
Prrx1 |
T |
C |
1: 163,075,867 (GRCm39) |
E233G |
probably damaging |
Het |
Rdh16f2 |
C |
T |
10: 127,712,932 (GRCm39) |
T310I |
probably benign |
Het |
Rfx6 |
T |
C |
10: 51,559,733 (GRCm39) |
S187P |
probably damaging |
Het |
Scn10a |
A |
T |
9: 119,517,013 (GRCm39) |
F135I |
probably benign |
Het |
Shld2 |
G |
A |
14: 33,990,327 (GRCm39) |
T193I |
probably benign |
Het |
Slc24a1 |
A |
G |
9: 64,855,609 (GRCm39) |
F433L |
probably benign |
Het |
Slfn3 |
T |
A |
11: 83,105,431 (GRCm39) |
L476Q |
probably damaging |
Het |
Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
Trappc1 |
T |
C |
11: 69,216,361 (GRCm39) |
S136P |
probably benign |
Het |
Tshz3 |
A |
G |
7: 36,470,654 (GRCm39) |
E881G |
possibly damaging |
Het |
Ubash3b |
A |
G |
9: 40,948,731 (GRCm39) |
|
probably null |
Het |
Wdtc1 |
G |
A |
4: 133,021,608 (GRCm39) |
A642V |
probably benign |
Het |
Zdhhc22 |
T |
C |
12: 87,035,341 (GRCm39) |
D37G |
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 |
R1174:Actn3
|
UTSW |
19 |
4,914,784 (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 |
|
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 |
PCR Primer
(F):5'- GTCACTTTCCACTGCGGGATAG -3'
(R):5'- CCAACACAGGGATTGGCATG -3'
Sequencing Primer
(F):5'- CATTACAAATGGTTGCCAGGCTG -3'
(R):5'- ATTGGCATGAGGGCTGGC -3'
|
Posted On |
2016-09-06 |