Incidental Mutation 'R4482:Actn3'
| ID |
331483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actn3
|
| Ensembl Gene |
ENSMUSG00000006457 |
| Gene Name |
actinin alpha 3 |
| Synonyms |
|
| MMRRC Submission |
041738-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.478)
|
| Stock # |
R4482 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4911244-4927937 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 4913436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006626]
[ENSMUST00000006626]
[ENSMUST00000119694]
|
| AlphaFold |
O88990 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000006626
|
| SMART Domains |
Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457
| 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 null
Transcript: ENSMUST00000006626
|
| SMART Domains |
Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457
| 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: 98.5%
- 10x: 97.1%
- 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
A |
G |
11: 3,845,008 (GRCm39) |
V27A |
possibly damaging |
Het |
| Adamts20 |
T |
C |
15: 94,243,801 (GRCm39) |
Y642C |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,620,228 (GRCm39) |
D1187G |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,275,072 (GRCm39) |
|
probably benign |
Het |
| Bsn |
C |
A |
9: 107,991,863 (GRCm39) |
K1296N |
probably damaging |
Het |
| Cct5 |
T |
C |
15: 31,597,715 (GRCm39) |
D58G |
probably damaging |
Het |
| Cyp4a10 |
T |
C |
4: 115,389,795 (GRCm39) |
F467L |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,672,536 (GRCm39) |
Y904H |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,205,530 (GRCm39) |
|
probably null |
Het |
| Fhip1b |
A |
T |
7: 105,038,881 (GRCm39) |
F119L |
probably benign |
Het |
| Git1 |
T |
A |
11: 77,391,333 (GRCm39) |
Y189N |
possibly damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Itga6 |
T |
A |
2: 71,686,259 (GRCm39) |
I1059N |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,331,051 (GRCm39) |
Y475F |
probably damaging |
Het |
| Map3k6 |
T |
C |
4: 132,970,710 (GRCm39) |
I199T |
probably benign |
Het |
| Mtmr7 |
T |
C |
8: 41,007,425 (GRCm39) |
M503V |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,577,075 (GRCm39) |
T2192A |
unknown |
Het |
| Nexn |
T |
C |
3: 151,948,390 (GRCm39) |
E391G |
probably damaging |
Het |
| Or5h22 |
G |
T |
16: 58,895,286 (GRCm39) |
H52Q |
probably benign |
Het |
| Parg |
A |
G |
14: 31,984,731 (GRCm39) |
I254V |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pomt2 |
G |
A |
12: 87,178,604 (GRCm39) |
P290S |
probably benign |
Het |
| Rasl10a |
T |
A |
11: 5,008,429 (GRCm39) |
Y42N |
probably damaging |
Het |
| Slc4a8 |
C |
A |
15: 100,708,480 (GRCm39) |
F871L |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,980,935 (GRCm39) |
|
probably null |
Het |
| Trim21 |
G |
A |
7: 102,213,140 (GRCm39) |
Q53* |
probably null |
Het |
| Triobp |
T |
C |
15: 78,850,763 (GRCm39) |
S306P |
possibly damaging |
Het |
| Vasn |
A |
T |
16: 4,466,190 (GRCm39) |
T46S |
possibly damaging |
Het |
| Wmp |
T |
A |
X: 106,990,237 (GRCm39) |
L225F |
possibly damaging |
Het |
| Zfp236 |
A |
T |
18: 82,662,346 (GRCm39) |
F529Y |
probably benign |
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 |
|
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 |
PCR Primer
(F):5'- AAGACTAGGCTCTCCTGCAG -3'
(R):5'- ACAGTTGGCTATGATATGACCACTC -3'
Sequencing Primer
(F):5'- AGCCGGTCGATGTTGCTC -3'
(R):5'- TCTCCTTCCCAGGTCAGAAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation