Mutagenetix > Incidental Mutation

Incidental Mutation 'R1698:Actn3'

192458

Institutional Source

Beutler Lab

Gene Symbol

Actn3

Ensembl Gene

ENSMUSG00000006457

Gene Name

actinin alpha 3

Synonyms

MMRRC Submission

039731-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.478) question?

Stock #

R1698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4911244-4927937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4912235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 783 (D783G)

Ref Sequence

ENSEMBL: ENSMUSP00000006626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006626] [ENSMUST00000119694]

AlphaFold

O88990

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006626
AA Change: D783G

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457
AA Change: D783G

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	C	6: 121,622,117 (GRCm39)	E340A	possibly damaging	Het
Abca13	A	G	11: 9,264,507 (GRCm39)	D2963G	probably benign	Het
Adamtsl2	A	G	2: 26,993,139 (GRCm39)	E723G	possibly damaging	Het
Agrn	G	T	4: 156,251,015 (GRCm39)	Q1931K	probably benign	Het
Ankrd27	G	A	7: 35,313,946 (GRCm39)	A426T	probably benign	Het
Atg9b	C	A	5: 24,593,186 (GRCm39)	G406C	probably damaging	Het
C1ra	A	T	6: 124,499,725 (GRCm39)	Q637L	probably benign	Het
Cdhr2	A	T	13: 54,867,394 (GRCm39)	M438L	probably benign	Het
Cep350	T	C	1: 155,829,104 (GRCm39)	I267V	possibly damaging	Het
Chrna5	A	G	9: 54,911,926 (GRCm39)	Y138C	probably damaging	Het
Chst3	T	A	10: 60,021,525 (GRCm39)	M441L	probably benign	Het
Cmya5	G	A	13: 93,200,027 (GRCm39)	P3434S	probably benign	Het
Cog2	T	A	8: 125,252,422 (GRCm39)	L42Q	probably damaging	Het
Cpq	A	T	15: 33,250,272 (GRCm39)	I210F	probably benign	Het
Crnn	C	A	3: 93,055,765 (GRCm39)	Q184K	probably damaging	Het
Csnka2ip	A	T	16: 64,298,422 (GRCm39)	Y647*	probably null	Het
D5Ertd579e	C	T	5: 36,761,874 (GRCm39)	R1331H	probably benign	Het
Dennd5a	C	T	7: 109,516,587 (GRCm39)		probably null	Het
Dync1h1	A	G	12: 110,593,426 (GRCm39)	Q1231R	possibly damaging	Het
Erbin	T	A	13: 103,970,239 (GRCm39)	I1126F	possibly damaging	Het
Fastkd1	T	C	2: 69,532,813 (GRCm39)	D518G	probably benign	Het
Gcc1	A	G	6: 28,421,110 (GRCm39)	L69P	possibly damaging	Het
Gkn1	T	C	6: 87,324,151 (GRCm39)	Y119C	probably damaging	Het
Gmpr	T	G	13: 45,670,520 (GRCm39)	W81G	probably benign	Het
Gyg1	T	A	3: 20,192,215 (GRCm39)	I236F	probably benign	Het
Hcrtr2	T	C	9: 76,153,735 (GRCm39)	Y219C	probably damaging	Het
Hmcn1	G	A	1: 150,441,120 (GRCm39)	Q5379*	probably null	Het
Kank1	T	C	19: 25,388,681 (GRCm39)	C785R	probably benign	Het
Lrp1b	A	T	2: 40,741,818 (GRCm39)	C3036*	probably null	Het
Mdga2	T	C	12: 66,736,109 (GRCm39)	D373G	probably damaging	Het
Mgat2	A	T	12: 69,232,493 (GRCm39)	I356F	probably benign	Het
Miga2	A	G	2: 30,268,009 (GRCm39)	D346G	probably damaging	Het
Mprip	T	A	11: 59,651,084 (GRCm39)	L1596Q	possibly damaging	Het
Mroh2b	G	A	15: 4,943,622 (GRCm39)	R386Q	probably benign	Het
Mst1r	T	A	9: 107,797,179 (GRCm39)	S1349R	probably benign	Het
Mtmr3	C	T	11: 4,442,825 (GRCm39)	R403H	possibly damaging	Het
Mycbpap	G	A	11: 94,398,969 (GRCm39)	Q460*	probably null	Het
Myo9a	T	C	9: 59,775,464 (GRCm39)	V1025A	probably benign	Het
Ncapd2	C	T	6: 125,145,553 (GRCm39)	E1365K	probably null	Het
Nkiras2	C	A	11: 100,515,989 (GRCm39)	D105E	probably damaging	Het
Nolc1	T	G	19: 46,069,870 (GRCm39)		probably null	Het
Nos1	T	C	5: 118,005,297 (GRCm39)	F6L	probably benign	Het
Or10j3	A	T	1: 173,030,938 (GRCm39)	N5I	probably damaging	Het
Or12e1	G	T	2: 87,022,081 (GRCm39)	V17L	probably benign	Het
Or2t46	T	C	11: 58,472,077 (GRCm39)	Y136H	probably damaging	Het
Or2w1b	C	T	13: 21,300,735 (GRCm39)	T291I	probably benign	Het
Or4f54	T	A	2: 111,122,905 (GRCm39)	C97*	probably null	Het
Or8b46	T	A	9: 38,450,552 (GRCm39)	Y120*	probably null	Het
Pfkm	A	G	15: 98,026,199 (GRCm39)	E598G	possibly damaging	Het
Phf2	A	T	13: 48,961,106 (GRCm39)	D861E	unknown	Het
Polr2a	A	G	11: 69,630,703 (GRCm39)		probably null	Het
Popdc2	G	A	16: 38,189,853 (GRCm39)	V167M	probably damaging	Het
Ptpn22	T	C	3: 103,793,114 (GRCm39)	S422P	probably benign	Het
Rasa2	T	C	9: 96,450,428 (GRCm39)	K490R	possibly damaging	Het
Rbfox3	T	A	11: 118,386,047 (GRCm39)	D286V	probably damaging	Het
Rdh13	A	G	7: 4,430,790 (GRCm39)	W223R	probably damaging	Het
Riok3	T	C	18: 12,261,986 (GRCm39)	S7P	probably benign	Het
Rnaseh2b	A	G	14: 62,591,081 (GRCm39)	E144G	probably benign	Het
Rnf20	C	T	4: 49,651,498 (GRCm39)	Q655*	probably null	Het
Rpap2	T	C	5: 107,751,416 (GRCm39)	Y8H	probably damaging	Het
Slc5a10	T	C	11: 61,600,428 (GRCm39)	Y181C	probably benign	Het
Snd1	G	T	6: 28,888,252 (GRCm39)	G896*	probably null	Het
Spast	C	T	17: 74,663,155 (GRCm39)	Q158*	probably null	Het
Tas2r104	G	A	6: 131,662,547 (GRCm39)	S54F	probably damaging	Het
Tcaf2	C	T	6: 42,604,951 (GRCm39)	W611*	probably null	Het
Thoc2l	C	T	5: 104,668,376 (GRCm39)	A966V	probably benign	Het
Timp4	G	A	6: 115,227,364 (GRCm39)		probably null	Het
Tmem45a	G	A	16: 56,643,933 (GRCm39)	S72L	probably benign	Het
Tnrc18	T	C	5: 142,774,458 (GRCm39)	T124A	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ttn	T	C	2: 76,773,259 (GRCm39)	D2381G	probably damaging	Het
Uevld	T	C	7: 46,605,372 (GRCm39)	T41A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Unc5d	T	C	8: 29,186,506 (GRCm39)	E527G	probably damaging	Het
Vmn2r125	C	T	4: 156,703,333 (GRCm39)	T237I	probably benign	Het
Vmn2r63	A	C	7: 42,583,038 (GRCm39)	I59S	probably benign	Het
Vps72	G	A	3: 95,026,006 (GRCm39)	S106N	probably benign	Het
Zan	A	C	5: 137,407,931 (GRCm39)		probably benign	Het
Zbtb38	T	C	9: 96,567,515 (GRCm39)	K1190E	probably benign	Het
Zc3h6	T	C	2: 128,859,278 (GRCm39)	V1103A	probably benign	Het
Zfp407	G	A	18: 84,580,282 (GRCm39)	T277I	probably damaging	Het
Zfp804b	A	G	5: 6,819,509 (GRCm39)	S1149P	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
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
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'- GTAGCCATTTGCCTGTGGCAATTC -3'
(R):5'- CACCATCAATGAGGTCGAGAACCAG -3'

Sequencing Primer
(F):5'- ATGGTCCAAGCTAAGGTCAC -3'
(R):5'- GTACTGACCCGAGATGCCAAG -3'

Posted On

2014-05-14