Mutagenetix > Incidental Mutation

Incidental Mutation 'R1901:Acta1'

212219

Institutional Source

Beutler Lab

Gene Symbol

Acta1

Ensembl Gene

ENSMUSG00000031972

Gene Name

actin alpha 1, skeletal muscle

Synonyms

Actsk-1, Acts

MMRRC Submission

039921-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124618508-124621490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124619900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 147 (S147T)

Ref Sequence

ENSEMBL: ENSMUSP00000148594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034453] [ENSMUST00000044795] [ENSMUST00000127664] [ENSMUST00000212584]

AlphaFold

P68134

Predicted Effect

probably benign
Transcript: ENSMUST00000034453
AA Change: S147T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000034453
Gene: ENSMUSG00000031972
AA Change: S147T

Domain	Start	End	E-Value	Type
ACTIN	7	377	8.06e-237	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000044795

SMART Domains

Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
PDB:1XKS\|A	66	513	N/A	PDB
Pfam:Nucleoporin_C	593	1052	1.2e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000212584
AA Change: S147T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212751

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.2%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals die by postnatal day 10 and display reduced body weight/size, atrophy of brown adipose tissue, depleted glycogen stores of the liver and skeletal muscles, muscle weakness, and scoliosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,945,322 (GRCm39)	E466G	probably damaging	Het
Acacb	A	T	5: 114,303,795 (GRCm39)	R73*	probably null	Het
Adh1	G	A	3: 137,994,558 (GRCm39)	V293I	probably benign	Het
Aldh3b3	T	C	19: 4,015,130 (GRCm39)	Y170H	probably damaging	Het
Ank3	A	T	10: 69,658,167 (GRCm39)	T198S	probably damaging	Het
Ankrd12	A	T	17: 66,293,698 (GRCm39)	N578K	possibly damaging	Het
Ano2	A	T	6: 125,849,647 (GRCm39)	E126D	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Cfap44	A	C	16: 44,242,737 (GRCm39)	T714P	probably benign	Het
Cnot1	T	C	8: 96,469,749 (GRCm39)	I1369V	possibly damaging	Het
Col19a1	A	T	1: 24,576,078 (GRCm39)	I88K	unknown	Het
Col1a1	G	A	11: 94,837,458 (GRCm39)		probably null	Het
Col5a1	A	G	2: 27,850,456 (GRCm39)	T518A	unknown	Het
Cul7	T	C	17: 46,966,666 (GRCm39)	L365P	probably damaging	Het
Dlec1	T	C	9: 118,931,712 (GRCm39)	S44P	probably damaging	Het
Dock9	T	C	14: 121,862,565 (GRCm39)		probably null	Het
Fbxl9	T	C	8: 106,039,707 (GRCm39)	N556S	probably damaging	Het
Flrt2	C	A	12: 95,745,904 (GRCm39)	P81T	probably damaging	Het
Flrt2	C	T	12: 95,745,905 (GRCm39)	P81L	probably damaging	Het
Ginm1	A	G	10: 7,650,980 (GRCm39)		probably null	Het
Glis3	T	C	19: 28,508,985 (GRCm39)	N333S	probably damaging	Het
Glo1	T	G	17: 30,815,382 (GRCm39)	E144D	probably benign	Het
Golga1	A	T	2: 38,937,792 (GRCm39)		probably null	Het
H2-Aa	A	G	17: 34,502,207 (GRCm39)	I155T	possibly damaging	Het
Haus5	A	G	7: 30,356,670 (GRCm39)	S479P	probably damaging	Het
Il10ra	A	T	9: 45,167,654 (GRCm39)	V299D	probably benign	Het
Il17re	T	C	6: 113,446,665 (GRCm39)	V472A	probably damaging	Het
Il22ra1	A	T	4: 135,478,219 (GRCm39)	Q430L	probably damaging	Het
Il23r	A	C	6: 67,400,718 (GRCm39)	D537E	probably benign	Het
Inppl1	T	C	7: 101,472,584 (GRCm39)	E1237G	possibly damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Klhl35	T	C	7: 99,119,427 (GRCm39)	L304P	probably damaging	Het
Krt78	A	T	15: 101,855,398 (GRCm39)	C804*	probably null	Het
Med15	G	T	16: 17,491,018 (GRCm39)		probably benign	Het
Mettl25	A	G	10: 105,661,948 (GRCm39)	S341P	probably damaging	Het
Mroh1	A	G	15: 76,320,249 (GRCm39)	T1008A	probably benign	Het
Mug1	A	G	6: 121,858,780 (GRCm39)	D1166G	probably benign	Het
Mug2	C	A	6: 122,048,801 (GRCm39)	H856N	probably benign	Het
Naca	T	A	10: 127,879,590 (GRCm39)		probably benign	Het
Nagk	G	T	6: 83,776,336 (GRCm39)	V184F	probably damaging	Het
Nav1	T	G	1: 135,400,148 (GRCm39)	N474T	probably benign	Het
Ncor2	T	A	5: 125,102,489 (GRCm39)	H2089L	probably benign	Het
Nek6	A	G	2: 38,472,458 (GRCm39)	I261V	probably damaging	Het
Neurod2	G	A	11: 98,218,558 (GRCm39)	T202M	probably damaging	Het
Nlgn2	A	G	11: 69,716,726 (GRCm39)	V605A	probably damaging	Het
Nlrp5	A	C	7: 23,123,335 (GRCm39)	E732A	possibly damaging	Het
Nt5dc1	A	T	10: 34,189,667 (GRCm39)	V340D	probably damaging	Het
Ntn4	A	G	10: 93,543,234 (GRCm39)	D320G	possibly damaging	Het
Or10al3	T	A	17: 38,012,312 (GRCm39)	H250Q	probably damaging	Het
Or10x1	A	T	1: 174,196,734 (GRCm39)	I84L	probably benign	Het
Or52l1	A	G	7: 104,830,079 (GRCm39)	I162T	possibly damaging	Het
Or52z15	T	C	7: 103,332,750 (GRCm39)	I265T	probably damaging	Het
Or5ac25	A	T	16: 59,182,526 (GRCm39)	D18E	probably benign	Het
Osbpl5	T	C	7: 143,256,918 (GRCm39)	D404G	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,683 (GRCm39)	W610R	possibly damaging	Het
Pias2	T	A	18: 77,185,139 (GRCm39)	C66*	probably null	Het
Plec	T	A	15: 76,059,751 (GRCm39)	E3417D	probably damaging	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,976,940 (GRCm39)		probably benign	Het
Ppp1r12a	T	A	10: 108,034,752 (GRCm39)	I99N	probably damaging	Het
Prpf8	T	G	11: 75,395,570 (GRCm39)	V1899G	probably damaging	Het
Prr13	C	A	15: 102,369,133 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,814,507 (GRCm39)	I803L	probably benign	Het
R3hdm2	T	C	10: 127,334,337 (GRCm39)	I947T	possibly damaging	Het
Raet1d	A	G	10: 22,247,350 (GRCm39)	D142G	probably damaging	Het
Rbbp8nl	C	T	2: 179,925,106 (GRCm39)	R33Q	probably damaging	Het
Robo1	A	G	16: 72,757,092 (GRCm39)	Q351R	probably null	Het
Rptn	A	T	3: 93,304,017 (GRCm39)	H450L	possibly damaging	Het
Scn11a	T	A	9: 119,608,102 (GRCm39)	K1010*	probably null	Het
Slc16a10	G	A	10: 39,932,602 (GRCm39)	Q33*	probably null	Het
Slc31a1	C	T	4: 62,303,842 (GRCm39)		probably benign	Het
Slc34a1	A	T	13: 55,548,963 (GRCm39)	K138*	probably null	Het
Slc6a18	T	A	13: 73,818,162 (GRCm39)	E285V	probably benign	Het
Slco6c1	T	A	1: 97,000,707 (GRCm39)	T515S	probably damaging	Het
Snrnp40	T	A	4: 130,279,768 (GRCm39)	S295T	probably damaging	Het
Snx4	A	T	16: 33,104,808 (GRCm39)	Y252F	possibly damaging	Het
Spata18	T	A	5: 73,828,482 (GRCm39)	F348I	probably damaging	Het
Spef2	G	T	15: 9,607,463 (GRCm39)	R1319S	probably damaging	Het
Tas2r125	T	C	6: 132,887,139 (GRCm39)	F176L	probably benign	Het
Tcp10b	A	G	17: 13,300,513 (GRCm39)	K399E	possibly damaging	Het
Tcstv3	A	G	13: 120,779,260 (GRCm39)	H53R	probably damaging	Het
Tnrc6c	A	G	11: 117,613,831 (GRCm39)	K823R	probably damaging	Het
Trim31	A	G	17: 37,212,692 (GRCm39)	E221G	probably benign	Het
Trim47	T	A	11: 115,998,605 (GRCm39)	Q338L	probably damaging	Het
Tubgcp6	C	A	15: 89,000,444 (GRCm39)	R307L	possibly damaging	Het
Usp9y	A	G	Y: 1,303,371 (GRCm39)		probably null	Het
Utp20	G	T	10: 88,588,888 (GRCm39)	T2427K	probably benign	Het
Vldlr	T	C	19: 27,218,709 (GRCm39)	V147A	probably damaging	Het
Vmn1r115	C	T	7: 20,578,198 (GRCm39)	R238H	probably benign	Het
Vmn1r175	C	A	7: 23,508,218 (GRCm39)	R136S	probably benign	Het
Vmn1r53	A	G	6: 90,201,268 (GRCm39)	S19P	possibly damaging	Het
Vwa5b2	G	T	16: 20,423,582 (GRCm39)	S1165I	possibly damaging	Het
Zfp362	G	T	4: 128,684,069 (GRCm39)	P13T	probably damaging	Het
Zfp825	A	G	13: 74,629,064 (GRCm39)	C151R	probably damaging	Het

Other mutations in Acta1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0090:Acta1	UTSW	8	124,620,396 (GRCm39)	missense	probably damaging	1.00
R2049:Acta1	UTSW	8	124,618,803 (GRCm39)	missense	probably benign	0.01
R5778:Acta1	UTSW	8	124,618,864 (GRCm39)	missense	probably benign	0.00
R6353:Acta1	UTSW	8	124,620,426 (GRCm39)	missense	probably benign	0.00
R6731:Acta1	UTSW	8	124,619,956 (GRCm39)	missense	probably damaging	1.00
R8070:Acta1	UTSW	8	124,620,360 (GRCm39)	missense	possibly damaging	0.78
R8336:Acta1	UTSW	8	124,619,310 (GRCm39)	missense	possibly damaging	0.68
R8826:Acta1	UTSW	8	124,619,978 (GRCm39)	missense	probably damaging	0.98
R9651:Acta1	UTSW	8	124,619,431 (GRCm39)	nonsense	probably null
Z1177:Acta1	UTSW	8	124,620,210 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCATAGATGGGCACGTTGTG -3'
(R):5'- AGATCTGGCACCACACCTTC -3'

Sequencing Primer
(F):5'- GAATCCAACACGATGCCTGTG -3'
(R):5'- ACCTTCTACAATGAGCTGCGTG -3'

Posted On

2014-06-30