Mutagenetix > Incidental Mutation

Incidental Mutation 'R9269:Actn1'

702783

Institutional Source

Beutler Lab

Gene Symbol

Actn1

Ensembl Gene

ENSMUSG00000015143

Gene Name

actinin, alpha 1

Synonyms

3110023F10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.488) question?

Stock #

R9269 (G1)

Quality Score

224.009

Status

Not validated

Chromosome

Chromosomal Location

80214321-80307145 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80219745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 709 (N709Y)

Ref Sequence

ENSEMBL: ENSMUSP00000021554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021554] [ENSMUST00000167327]

AlphaFold

Q7TPR4

Predicted Effect

probably benign
Transcript: ENSMUST00000021554
AA Change: N709Y

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143
AA Change: N709Y

Domain	Start	End	E-Value	Type
CH	33	133	4.24e-23	SMART
CH	146	245	5.06e-21	SMART
Pfam:Spectrin	274	384	5.9e-17	PFAM
SPEC	397	498	1.69e-25	SMART
SPEC	512	619	1.47e-2	SMART
Pfam:Spectrin	630	733	4.7e-14	PFAM
EFh	750	778	1.73e-5	SMART
EFh	791	819	8.13e-2	SMART
efhand_Ca_insen	822	888	5.22e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167327
AA Change: N709Y

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000127176
Gene: ENSMUSG00000015143
AA Change: N709Y

Domain	Start	End	E-Value	Type
CH	33	133	4.24e-23	SMART
CH	146	245	5.06e-21	SMART
Pfam:Spectrin	274	384	1.7e-17	PFAM
SPEC	397	498	1.69e-25	SMART
SPEC	512	619	1.47e-2	SMART
Pfam:Spectrin	630	733	8.4e-14	PFAM
EFh	750	778	1.36e0	SMART
EFh	786	814	8.13e-2	SMART
efhand_Ca_insen	817	883	5.22e-38	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,637,865 (GRCm39)	S845P	probably benign	Het
Alox5ap	A	G	5: 149,216,006 (GRCm39)	Y64C	probably damaging	Het
Anapc4	T	A	5: 53,018,620 (GRCm39)	S521T	possibly damaging	Het
Ap3b1	C	A	13: 94,540,570 (GRCm39)	P164Q	probably damaging	Het
Arhgef26	A	G	3: 62,247,920 (GRCm39)	N335D	probably damaging	Het
Arrdc2	G	A	8: 71,288,973 (GRCm39)	A354V	probably benign	Het
Atg2b	A	G	12: 105,618,359 (GRCm39)	S898P	probably damaging	Het
Atxn1	T	A	13: 45,710,680 (GRCm39)	T751S	probably benign	Het
Begain	T	A	12: 108,999,119 (GRCm39)	R551W	possibly damaging	Het
Borcs8	C	A	8: 70,594,521 (GRCm39)	D15E	probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Card11	A	T	5: 140,892,516 (GRCm39)	M183K	probably damaging	Het
Cldn3	T	C	5: 135,015,579 (GRCm39)	L94P	probably damaging	Het
Clvs2	A	T	10: 33,419,422 (GRCm39)	Y211N	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cop1	C	T	1: 159,116,553 (GRCm39)	P409L	probably benign	Het
Cplane1	A	C	15: 8,248,500 (GRCm39)	Q1683P	probably damaging	Het
Crhbp	C	A	13: 95,573,024 (GRCm39)	A241S	probably benign	Het
Cyfip1	C	A	7: 55,557,179 (GRCm39)	S794*	probably null	Het
Dlg5	T	A	14: 24,242,881 (GRCm39)	H172L	probably damaging	Het
Doc2a	T	A	7: 126,450,159 (GRCm39)	I199N	probably benign	Het
Dock3	T	C	9: 106,818,522 (GRCm39)	T1191A	probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Eif4a3l2	C	T	6: 116,529,317 (GRCm39)	T398I	probably damaging	Het
Fcgr1	C	T	3: 96,193,154 (GRCm39)	R281H	probably benign	Het
Fndc10	T	C	4: 155,779,205 (GRCm39)	V83A	possibly damaging	Het
Galnt2	T	A	8: 125,065,202 (GRCm39)	I444K	probably benign	Het
Gcnt3	T	C	9: 69,941,290 (GRCm39)	Y426C	probably damaging	Het
Gtpbp1	C	T	15: 79,601,855 (GRCm39)	R533C	probably damaging	Het
Hid1	T	C	11: 115,252,502 (GRCm39)	E60G	probably damaging	Het
Ighv1-81	A	T	12: 115,884,161 (GRCm39)	L30Q	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,618,565 (GRCm39)		probably null	Het
Ilrun	A	C	17: 28,005,049 (GRCm39)	Y169*	probably null	Het
Klf10	A	G	15: 38,298,002 (GRCm39)	L44P	probably damaging	Het
Lamc3	T	C	2: 31,813,017 (GRCm39)	V1001A	probably benign	Het
Lamc3	C	A	2: 31,818,908 (GRCm39)	S1211*	probably null	Het
Lmx1a	T	A	1: 167,658,194 (GRCm39)	H192Q	probably benign	Het
Nkx2-4	T	C	2: 146,926,184 (GRCm39)	H226R	possibly damaging	Het
Or2d2	T	C	7: 106,727,833 (GRCm39)	I256V	probably benign	Het
Or4a68	T	A	2: 89,270,276 (GRCm39)	M116L	probably damaging	Het
Or4k37	T	C	2: 111,159,297 (GRCm39)	F178L	probably damaging	Het
Or4p18	G	A	2: 88,232,586 (GRCm39)	R231C	probably benign	Het
Or5b101	T	C	19: 13,004,994 (GRCm39)	H233R	probably benign	Het
Or5b114-ps1	A	T	19: 13,353,004 (GRCm39)	N226I	unknown	Het
Or5p52	T	A	7: 107,502,527 (GRCm39)	I201N	possibly damaging	Het
Or7e175	T	C	9: 20,048,757 (GRCm39)	M115T	probably damaging	Het
Or8k1	T	C	2: 86,047,247 (GRCm39)	H269R	probably damaging	Het
Orai3	G	T	7: 127,373,194 (GRCm39)	A232S	probably benign	Het
Pak1ip1	G	A	13: 41,162,727 (GRCm39)	G177R	probably benign	Het
Pcp4l1	T	C	1: 171,001,975 (GRCm39)	R62G	possibly damaging	Het
Phox2b	T	A	5: 67,256,064 (GRCm39)	Q74L	probably benign	Het
Pi4kb	A	G	3: 94,891,797 (GRCm39)	Y159C	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxna1	T	C	6: 89,306,541 (GRCm39)	R1430G	probably null	Het
Plxna4	T	C	6: 32,155,315 (GRCm39)	H1543R	probably benign	Het
Prcc	A	T	3: 87,777,038 (GRCm39)	F312Y	probably damaging	Het
Ranbp6	A	G	19: 29,787,388 (GRCm39)	L988P	probably damaging	Het
Rbm27	A	G	18: 42,460,572 (GRCm39)	T840A	probably benign	Het
Rchy1	G	T	5: 92,105,831 (GRCm39)	T39N	probably benign	Het
Rmi1	C	T	13: 58,556,840 (GRCm39)	T363I	probably benign	Het
Rnpc3	A	C	3: 113,404,895 (GRCm39)	I420S	probably damaging	Het
Rsph4a	T	A	10: 33,785,394 (GRCm39)	V435E	probably benign	Het
Rwdd1	T	C	10: 33,888,095 (GRCm39)	T38A	probably damaging	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Sel1l3	T	C	5: 53,311,628 (GRCm39)	Y619C	probably damaging	Het
Sf3b3	T	C	8: 111,538,658 (GRCm39)	T1121A	probably damaging	Het
Sgk3	T	C	1: 9,942,534 (GRCm39)	V102A	probably benign	Het
Sh2b1	T	C	7: 126,068,354 (GRCm39)	T486A	probably damaging	Het
Slc22a5	C	T	11: 53,766,981 (GRCm39)	R169H	probably damaging	Het
Slc4a5	T	C	6: 83,266,223 (GRCm39)	V889A	possibly damaging	Het
Spast	C	A	17: 74,646,069 (GRCm39)	S13*	probably null	Het
Srek1	T	C	13: 103,889,654 (GRCm39)		probably null	Het
Sugp1	G	T	8: 70,509,220 (GRCm39)	E164D	probably benign	Het
Synpo2	T	C	3: 122,910,973 (GRCm39)	D224G	probably benign	Het
Tanc1	A	G	2: 59,630,432 (GRCm39)	D804G	probably damaging	Het
Tep1	C	T	14: 51,081,766 (GRCm39)	C1228Y	probably damaging	Het
Tes	T	A	6: 17,100,341 (GRCm39)	C325S	probably benign	Het
Themis	T	C	10: 28,739,390 (GRCm39)	V620A	probably benign	Het
Trim17	T	C	11: 58,862,257 (GRCm39)	S430P	probably damaging	Het
Tubgcp5	T	C	7: 55,445,693 (GRCm39)	I65T	possibly damaging	Het
Unc13b	T	C	4: 43,171,955 (GRCm39)	S928P	unknown	Het
Vat1l	C	T	8: 115,016,172 (GRCm39)	A354V	probably damaging	Het
Vmn1r170	T	A	7: 23,306,263 (GRCm39)	S222T	probably benign	Het
Vmn2r112	A	T	17: 22,820,213 (GRCm39)	M29L	probably benign	Het
Vmn2r72	T	C	7: 85,400,411 (GRCm39)	I213V	probably benign	Het
Wdr89	T	A	12: 75,679,564 (GRCm39)	Q230L	possibly damaging	Het
Zfp386	A	G	12: 116,023,283 (GRCm39)	T334A	probably benign	Het
Zfp442	T	A	2: 150,251,287 (GRCm39)	H205L	probably benign	Het
Zfyve26	A	T	12: 79,323,076 (GRCm39)	I890N	possibly damaging	Het
Zic1	T	C	9: 91,246,373 (GRCm39)	E233G	probably damaging	Het

Other mutations in Actn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Actn1	APN	12	80,245,846 (GRCm39)	splice site	probably null
IGL01152:Actn1	APN	12	80,245,820 (GRCm39)	missense	probably damaging	1.00
IGL01386:Actn1	APN	12	80,240,446 (GRCm39)	missense	probably benign	0.03
IGL01890:Actn1	APN	12	80,231,642 (GRCm39)	missense	probably damaging	0.99
IGL01937:Actn1	APN	12	80,218,537 (GRCm39)	missense	probably benign	0.03
IGL02142:Actn1	APN	12	80,222,929 (GRCm39)	critical splice donor site	probably null
IGL02191:Actn1	APN	12	80,220,883 (GRCm39)	missense	probably benign
IGL02217:Actn1	APN	12	80,220,868 (GRCm39)	nonsense	probably null
IGL02230:Actn1	APN	12	80,218,604 (GRCm39)	missense	probably benign	0.02
IGL03163:Actn1	APN	12	80,228,191 (GRCm39)	missense	probably benign	0.33
IGL03401:Actn1	APN	12	80,215,741 (GRCm39)	nonsense	probably null
R0538:Actn1	UTSW	12	80,306,874 (GRCm39)	unclassified	probably benign
R0546:Actn1	UTSW	12	80,225,208 (GRCm39)	missense	probably benign
R0583:Actn1	UTSW	12	80,245,803 (GRCm39)	missense	probably damaging	1.00
R0606:Actn1	UTSW	12	80,221,421 (GRCm39)	splice site	probably benign
R1340:Actn1	UTSW	12	80,219,918 (GRCm39)	critical splice acceptor site	probably null
R1519:Actn1	UTSW	12	80,251,852 (GRCm39)	missense	probably damaging	1.00
R1572:Actn1	UTSW	12	80,219,731 (GRCm39)	splice site	probably benign
R1619:Actn1	UTSW	12	80,219,796 (GRCm39)	missense	probably damaging	1.00
R1677:Actn1	UTSW	12	80,306,806 (GRCm39)	missense	probably benign	0.02
R1994:Actn1	UTSW	12	80,251,745 (GRCm39)	nonsense	probably null
R2102:Actn1	UTSW	12	80,230,291 (GRCm39)	missense	probably benign	0.38
R2157:Actn1	UTSW	12	80,219,891 (GRCm39)	missense	probably benign	0.04
R2191:Actn1	UTSW	12	80,218,576 (GRCm39)	nonsense	probably null
R2519:Actn1	UTSW	12	80,239,163 (GRCm39)	missense	probably damaging	1.00
R2988:Actn1	UTSW	12	80,239,162 (GRCm39)	missense	possibly damaging	0.78
R4024:Actn1	UTSW	12	80,215,251 (GRCm39)	missense	probably damaging	1.00
R4589:Actn1	UTSW	12	80,218,573 (GRCm39)	missense	possibly damaging	0.53
R4907:Actn1	UTSW	12	80,228,188 (GRCm39)	missense	probably damaging	0.99
R4936:Actn1	UTSW	12	80,219,772 (GRCm39)	missense	probably benign	0.09
R4966:Actn1	UTSW	12	80,219,904 (GRCm39)	missense	probably benign	0.01
R4972:Actn1	UTSW	12	80,219,813 (GRCm39)	missense	probably benign	0.35
R5395:Actn1	UTSW	12	80,217,477 (GRCm39)	missense	probably benign
R5460:Actn1	UTSW	12	80,230,342 (GRCm39)	missense	probably benign	0.00
R5467:Actn1	UTSW	12	80,222,991 (GRCm39)	missense	possibly damaging	0.86
R5470:Actn1	UTSW	12	80,215,715 (GRCm39)	missense	probably damaging	0.99
R5661:Actn1	UTSW	12	80,231,618 (GRCm39)	missense	probably benign	0.09
R5985:Actn1	UTSW	12	80,215,169 (GRCm39)	missense	probably damaging	1.00
R6020:Actn1	UTSW	12	80,221,229 (GRCm39)	splice site	probably null
R6042:Actn1	UTSW	12	80,224,023 (GRCm39)	missense	probably benign	0.04
R6389:Actn1	UTSW	12	80,221,296 (GRCm39)	missense	probably benign
R6499:Actn1	UTSW	12	80,215,191 (GRCm39)	missense	possibly damaging	0.59
R6709:Actn1	UTSW	12	80,240,418 (GRCm39)	missense	probably damaging	1.00
R7016:Actn1	UTSW	12	80,219,742 (GRCm39)	missense	possibly damaging	0.94
R7116:Actn1	UTSW	12	80,251,751 (GRCm39)	missense	probably damaging	1.00
R7173:Actn1	UTSW	12	80,224,033 (GRCm39)	missense	possibly damaging	0.70
R7183:Actn1	UTSW	12	80,215,706 (GRCm39)	missense	possibly damaging	0.87
R7291:Actn1	UTSW	12	80,220,859 (GRCm39)	missense	probably benign	0.00
R7361:Actn1	UTSW	12	80,240,489 (GRCm39)	missense	probably benign	0.01
R7452:Actn1	UTSW	12	80,230,376 (GRCm39)	missense	probably benign	0.12
R7698:Actn1	UTSW	12	80,221,311 (GRCm39)	missense	probably benign	0.00
R7701:Actn1	UTSW	12	80,221,328 (GRCm39)	missense	possibly damaging	0.88
R8000:Actn1	UTSW	12	80,245,782 (GRCm39)	missense	probably damaging	1.00
R8171:Actn1	UTSW	12	80,243,167 (GRCm39)	critical splice donor site	probably null
R8287:Actn1	UTSW	12	80,220,852 (GRCm39)	critical splice donor site	probably null
R8469:Actn1	UTSW	12	80,240,457 (GRCm39)	missense	possibly damaging	0.95
R8794:Actn1	UTSW	12	80,245,754 (GRCm39)	critical splice donor site	probably benign
R8887:Actn1	UTSW	12	80,215,197 (GRCm39)	missense	probably damaging	1.00
R9237:Actn1	UTSW	12	80,240,470 (GRCm39)	missense	possibly damaging	0.92
R9520:Actn1	UTSW	12	80,240,417 (GRCm39)	missense	probably damaging	1.00
R9526:Actn1	UTSW	12	80,230,393 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGGCTCATTCAGTTCCAGC -3'
(R):5'- ACAAGACATCTCCTTCTGATGAGC -3'

Sequencing Primer
(F):5'- CTAGGGACCAGATGTGCATACTTG -3'
(R):5'- CAGGAGATTGGGAGGATTTCC -3'

Posted On

2022-03-25