Incidental Mutation 'R5563:Actn3'
| ID |
436719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actn3
|
| Ensembl Gene |
ENSMUSG00000006457 |
| Gene Name |
actinin alpha 3 |
| Synonyms |
|
| MMRRC Submission |
043120-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.478)
|
| Stock # |
R5563 (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 4922344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 101
(H101R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006626]
|
| AlphaFold |
O88990 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006626
AA Change: H101R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457
AA Change: H101R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
C |
T |
5: 100,960,040 (GRCm39) |
R104H |
possibly damaging |
Het |
| Akp3 |
T |
C |
1: 87,053,646 (GRCm39) |
S174P |
probably damaging |
Het |
| Aldh5a1 |
C |
A |
13: 25,102,609 (GRCm39) |
A285S |
possibly damaging |
Het |
| Atp7b |
G |
A |
8: 22,518,730 (GRCm39) |
P36L |
possibly damaging |
Het |
| Cdh20 |
C |
T |
1: 104,875,082 (GRCm39) |
P288L |
probably benign |
Het |
| Fktn |
T |
A |
4: 53,761,327 (GRCm39) |
N481K |
probably damaging |
Het |
| Fmo5 |
C |
A |
3: 97,546,207 (GRCm39) |
H173Q |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,395,688 (GRCm39) |
R1021G |
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,525,581 (GRCm39) |
F337L |
probably benign |
Het |
| Ighv3-1 |
T |
A |
12: 113,928,206 (GRCm39) |
Y51F |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,673,944 (GRCm39) |
K569E |
possibly damaging |
Het |
| Mars1 |
T |
C |
10: 127,144,530 (GRCm39) |
Q170R |
probably benign |
Het |
| Mfsd4b2 |
C |
T |
10: 39,798,038 (GRCm39) |
E106K |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,914,185 (GRCm39) |
D285G |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,163,788 (GRCm39) |
|
probably null |
Het |
| Npat |
A |
G |
9: 53,474,427 (GRCm39) |
I740V |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,535,956 (GRCm39) |
|
probably null |
Het |
| Plin2 |
T |
C |
4: 86,580,341 (GRCm39) |
K140R |
probably benign |
Het |
| Prdm2 |
T |
C |
4: 142,861,200 (GRCm39) |
T697A |
probably benign |
Het |
| Prkaa1 |
A |
G |
15: 5,199,437 (GRCm39) |
E179G |
probably damaging |
Het |
| Prtg |
G |
A |
9: 72,764,180 (GRCm39) |
R551H |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,284,897 (GRCm39) |
R254G |
probably benign |
Het |
| Rhpn2 |
T |
A |
7: 35,070,652 (GRCm39) |
L194H |
probably damaging |
Het |
| Sp7 |
T |
C |
15: 102,267,755 (GRCm39) |
D17G |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,188,712 (GRCm39) |
V128A |
possibly damaging |
Het |
| Uba5 |
G |
T |
9: 103,926,446 (GRCm39) |
T372K |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,321,846 (GRCm39) |
I284L |
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,871,283 (GRCm39) |
T667A |
probably 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 |
|
|
R5448:Actn3
|
UTSW |
19 |
4,913,239 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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'- CATTTGCTTCTGACAGACAGG -3'
(R):5'- CTGCTCCTGGAGGTCATTTC -3'
Sequencing Primer
(F):5'- CAGACAGGAATAATTATCTCCACTG -3'
(R):5'- CGGCATACACTGTGGTCAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation