Incidental Mutation 'R4293:Actn3'
| ID |
323193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actn3
|
| Ensembl Gene |
ENSMUSG00000006457 |
| Gene Name |
actinin alpha 3 |
| Synonyms |
|
| MMRRC Submission |
041082-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.478)
|
| Stock # |
R4293 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4911244-4927937 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4915468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 428
(E428G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006626]
[ENSMUST00000119694]
|
| AlphaFold |
O88990 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006626
AA Change: E428G
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457
AA Change: E428G
| 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
|
| Meta Mutation Damage Score |
0.0870 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
98% (60/61) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef2 |
T |
C |
2: 166,732,211 (GRCm39) |
I1600T |
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,697,713 (GRCm39) |
|
probably benign |
Het |
| Asgr2 |
C |
A |
11: 69,989,057 (GRCm39) |
T167K |
probably benign |
Het |
| Atf6b |
T |
A |
17: 34,871,648 (GRCm39) |
M428K |
probably benign |
Het |
| Atpaf1 |
A |
T |
4: 115,645,556 (GRCm39) |
M142L |
probably benign |
Het |
| Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,382,308 (GRCm39) |
|
probably null |
Het |
| Brwd1 |
G |
A |
16: 95,818,804 (GRCm39) |
P1343S |
probably damaging |
Het |
| Cdca2 |
T |
C |
14: 67,952,299 (GRCm39) |
D24G |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,300,993 (GRCm39) |
R2767G |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,833,612 (GRCm39) |
F571Y |
probably benign |
Het |
| Cyp2c55 |
A |
T |
19: 39,000,235 (GRCm39) |
I145F |
probably damaging |
Het |
| Ddx18 |
T |
C |
1: 121,489,121 (GRCm39) |
T309A |
probably benign |
Het |
| Dlg3 |
A |
T |
X: 99,840,288 (GRCm39) |
|
probably benign |
Het |
| Fbf1 |
A |
G |
11: 116,039,720 (GRCm39) |
L713P |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fnbp1 |
A |
G |
2: 30,995,362 (GRCm39) |
F24S |
probably damaging |
Het |
| Gm16686 |
A |
T |
4: 88,673,710 (GRCm39) |
|
probably benign |
Het |
| Gmps |
A |
G |
3: 63,898,040 (GRCm39) |
M275V |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,031,892 (GRCm39) |
|
probably null |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,123,398 (GRCm39) |
V224A |
probably benign |
Het |
| Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
| Lmf1 |
T |
C |
17: 25,873,455 (GRCm39) |
L320P |
probably damaging |
Het |
| Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
| Mettl18 |
A |
G |
1: 163,824,171 (GRCm39) |
D164G |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,051,453 (GRCm39) |
T349S |
probably benign |
Het |
| Or1ad6 |
T |
C |
11: 50,860,253 (GRCm39) |
M136T |
probably damaging |
Het |
| Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
| Phf14 |
C |
T |
6: 11,987,096 (GRCm39) |
P559S |
probably damaging |
Het |
| Pik3c3 |
G |
A |
18: 30,477,043 (GRCm39) |
A855T |
probably damaging |
Het |
| Plpp4 |
A |
G |
7: 128,909,356 (GRCm39) |
E22G |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,147,500 (GRCm39) |
D13E |
possibly damaging |
Het |
| Sec16a |
A |
G |
2: 26,312,167 (GRCm39) |
Y1998H |
probably benign |
Het |
| Slc4a5 |
C |
T |
6: 83,237,511 (GRCm39) |
R165C |
probably damaging |
Het |
| Slfn10-ps |
T |
C |
11: 82,926,260 (GRCm39) |
|
noncoding transcript |
Het |
| Slfn9 |
T |
C |
11: 82,873,334 (GRCm39) |
N523S |
probably benign |
Het |
| Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
| Stk32c |
T |
C |
7: 138,700,704 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,848,693 (GRCm39) |
T49A |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,084,318 (GRCm39) |
I954V |
probably benign |
Het |
| Tmem237 |
A |
G |
1: 59,158,995 (GRCm39) |
|
probably benign |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,303 (GRCm39) |
R766S |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,636,996 (GRCm39) |
T693A |
probably benign |
Het |
| Xpr1 |
A |
G |
1: 155,188,542 (GRCm39) |
F366S |
possibly damaging |
Het |
| Zfp317 |
A |
G |
9: 19,557,990 (GRCm39) |
|
probably null |
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 |
|
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 |
PCR Primer
(F):5'- AGGATGCAACCACTTGTTTACC -3'
(R):5'- AGCAAAGGTCATCCTAGCCG -3'
Sequencing Primer
(F):5'- TTTACCAAGGGTCTGAGGGAG -3'
(R):5'- CGGTGCTGGGTCAGGGAATAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation