Mutagenetix > Incidental Mutation

Incidental Mutation 'R8803:Actn3'

671656

Institutional Source

Beutler Lab

Gene Symbol

Actn3

Ensembl Gene

ENSMUSG00000006457

Gene Name

actinin alpha 3

Synonyms

MMRRC Submission

068640-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.421) question?

Stock #

R8803 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4911244-4927937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4914691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 508 (D508G)

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: D508G

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457
AA Change: D508G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	A	8: 60,998,290 (GRCm39)	S431T	probably benign	Het
Acot7	T	G	4: 152,302,272 (GRCm39)	V128G	probably damaging	Het
Adam18	T	C	8: 25,137,878 (GRCm39)	I321V	probably benign	Het
Ak1	T	C	2: 32,523,490 (GRCm39)	V186A	probably benign	Het
Aldh3a2	A	G	11: 61,139,756 (GRCm39)	F459L	probably benign	Het
Atp11a	T	C	8: 12,875,721 (GRCm39)	L256P	probably benign	Het
Bcan	T	C	3: 87,903,999 (GRCm39)	E162G	probably benign	Het
Birc6	A	G	17: 74,959,033 (GRCm39)	Q3850R	probably damaging	Het
Btf3l4	T	G	4: 108,689,084 (GRCm39)		probably benign	Het
Btla	A	G	16: 45,059,430 (GRCm39)	T45A	probably benign	Het
Cad	T	G	5: 31,226,908 (GRCm39)	S1222A	probably damaging	Het
Cbarp	A	G	10: 79,972,976 (GRCm39)	V39A	possibly damaging	Het
Cct2	A	C	10: 116,894,090 (GRCm39)	D221E	probably benign	Het
Cmya5	T	C	13: 93,177,991 (GRCm39)	D3621G	probably damaging	Het
Col20a1	G	T	2: 180,643,131 (GRCm39)	R867L	possibly damaging	Het
Cops3	A	G	11: 59,718,802 (GRCm39)	V164A	probably benign	Het
Crygf	A	G	1: 65,967,148 (GRCm39)	R91G	probably damaging	Het
Csmd2	T	A	4: 128,440,477 (GRCm39)	S3181T		Het
Cyb5r1	G	T	1: 134,333,696 (GRCm39)		probably benign	Het
Dennd6b	T	A	15: 89,070,383 (GRCm39)	I429F	probably benign	Het
Dock1	A	G	7: 134,475,816 (GRCm39)	T864A	probably benign	Het
Eea1	A	T	10: 95,859,853 (GRCm39)	D713V	probably benign	Het
Fam78b	G	A	1: 166,829,160 (GRCm39)	C9Y	probably damaging	Het
Gga2	A	C	7: 121,597,002 (GRCm39)	D371E	probably benign	Het
Gtpbp6	A	T	5: 110,255,186 (GRCm39)	V2E	unknown	Het
Hectd4	A	T	5: 121,461,994 (GRCm39)	M954L	probably benign	Het
Hmcn1	A	G	1: 150,610,248 (GRCm39)	C1474R	probably damaging	Het
Igkv1-99	G	T	6: 68,519,370 (GRCm39)	G109V		Het
Izumo3	T	C	4: 92,033,310 (GRCm39)		probably null	Het
Kremen1	T	C	11: 5,144,981 (GRCm39)	D465G	probably benign	Het
Ksr1	T	C	11: 79,036,882 (GRCm39)	E75G	probably benign	Het
Mmp17	G	T	5: 129,675,773 (GRCm39)	E311*	probably null	Het
Mmrn1	T	A	6: 60,965,271 (GRCm39)	F1101I	probably damaging	Het
Muc13	G	A	16: 33,633,287 (GRCm39)		probably benign	Het
Myl4	T	A	11: 104,475,403 (GRCm39)	M147K	probably damaging	Het
Myo1a	T	A	10: 127,546,856 (GRCm39)	N334K	probably benign	Het
Myo3b	T	C	2: 70,083,338 (GRCm39)	S664P	probably benign	Het
Nptxr	T	C	15: 79,678,655 (GRCm39)	N211D	probably damaging	Het
Ntf5	A	G	7: 45,065,485 (GRCm39)	T206A	probably benign	Het
Obscn	T	A	11: 58,945,229 (GRCm39)	E4596D	probably benign	Het
Or4d10c	T	C	19: 12,065,469 (GRCm39)	E229G	probably benign	Het
Or4f14d	T	C	2: 111,960,427 (GRCm39)	H243R	probably damaging	Het
Or5ak20	T	A	2: 85,184,078 (GRCm39)	Q64L	probably damaging	Het
Or5ak25	T	A	2: 85,268,981 (GRCm39)	I174F	probably damaging	Het
Or5b3	A	T	19: 13,388,037 (GRCm39)	I35F	probably damaging	Het
Or7e169	A	T	9: 19,757,462 (GRCm39)	I151N	possibly damaging	Het
Paip2	A	G	18: 35,749,273 (GRCm39)	N114D	possibly damaging	Het
Pcnx1	T	C	12: 82,039,925 (GRCm39)	S2071P	possibly damaging	Het
Pcsk2	A	G	2: 143,637,870 (GRCm39)	T369A	probably damaging	Het
Ppp1r12b	A	C	1: 134,818,492 (GRCm39)		probably benign	Het
Ppp1r35	T	A	5: 137,777,731 (GRCm39)	D132E	possibly damaging	Het
Pramel7	A	T	2: 87,320,405 (GRCm39)	V296E	probably benign	Het
Prh1	C	T	6: 132,548,948 (GRCm39)	P152S	unknown	Het
Pygl	T	C	12: 70,242,390 (GRCm39)	T689A	probably damaging	Het
Rasgef1b	T	C	5: 99,369,269 (GRCm39)	S450G	probably benign	Het
Rtn4ip1	G	T	10: 43,783,842 (GRCm39)	R121L	probably damaging	Het
Scarf2	A	T	16: 17,620,695 (GRCm39)	H121L	probably damaging	Het
Selenbp1	C	A	3: 94,851,821 (GRCm39)	A454E	possibly damaging	Het
Slc7a9	A	G	7: 35,163,143 (GRCm39)	I449M	possibly damaging	Het
Snapc2	C	T	8: 4,305,558 (GRCm39)	H278Y	probably damaging	Het
Stambp	C	T	6: 83,524,212 (GRCm39)		probably null	Het
Syne1	T	C	10: 5,311,535 (GRCm39)	Y550C	probably damaging	Het
Tas2r113	T	C	6: 132,870,104 (GRCm39)	V44A	possibly damaging	Het
Trpv4	T	C	5: 114,772,816 (GRCm39)	T305A	probably benign	Het
Twf1	T	C	15: 94,479,136 (GRCm39)	Y241C	probably damaging	Het
Ugt2a3	T	C	5: 87,484,389 (GRCm39)	K212E	probably damaging	Het
Ush2a	A	T	1: 188,676,998 (GRCm39)	H4770L	probably benign	Het
Zfc3h1	T	C	10: 115,247,800 (GRCm39)	V1001A	probably benign	Het
Zfp335	C	T	2: 164,751,290 (GRCm39)	R92Q	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
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
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'- AGGTCCTCAATAGCCCCATC -3'
(R):5'- TGCTTGCTCTGGCTACCTAG -3'

Sequencing Primer
(F):5'- CCATCCAGCCAGTTATTGAAGGG -3'
(R):5'- GCTACCTAGCCCCATAACTCCTG -3'

Posted On

2021-04-30