Mutagenetix > Incidental Mutation

Incidental Mutation 'R9526:Actn1'

719263

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 #

R9526 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80214321-80307145 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80230393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 287 (L287S)

Ref Sequence

ENSEMBL: ENSMUSP00000021554 (fasta)

Gene Model

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

AlphaFold

Q7TPR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000021554
AA Change: L287S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143
AA Change: L287S

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 damaging
Transcript: ENSMUST00000167327
AA Change: L287S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127176
Gene: ENSMUSG00000015143
AA Change: L287S

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: 98.8%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	A	T	17: 43,616,237 (GRCm39)	Q292L	possibly damaging	Het
Arhgap32	A	G	9: 32,172,026 (GRCm39)	D1602G	probably benign	Het
Atrnl1	C	T	19: 57,617,551 (GRCm39)	P109S	probably damaging	Het
Camsap1	G	A	2: 25,843,962 (GRCm39)	H230Y	probably benign	Het
Capns1	C	T	7: 29,891,612 (GRCm39)	C144Y	probably damaging	Het
Ccdc17	G	A	4: 116,455,994 (GRCm39)	V341I	possibly damaging	Het
Cd36	T	C	5: 18,002,033 (GRCm39)	T323A	probably damaging	Het
Cdc14a	CGCTGCTGCTGCTGCTGCTG	CGCTGCTGCTGCTGCTG	3: 116,087,509 (GRCm39)		probably benign	Het
Ckap2l	G	A	2: 129,111,161 (GRCm39)	Q679*	probably null	Het
Clec4g	T	A	8: 3,768,565 (GRCm39)	N93I	probably benign	Het
Cntnap2	T	A	6: 45,992,165 (GRCm39)	L364Q	probably damaging	Het
Cul9	A	G	17: 46,841,026 (GRCm39)	M748T	probably benign	Het
Dnah11	A	T	12: 118,150,711 (GRCm39)	I349N	probably damaging	Het
Dnajc14	T	A	10: 128,642,260 (GRCm39)	Y61N	probably benign	Het
Dock6	A	T	9: 21,713,802 (GRCm39)	Y1909*	probably null	Het
Dock8	T	A	19: 25,165,739 (GRCm39)	D1874E	probably benign	Het
Dpm1	A	G	2: 168,072,210 (GRCm39)	S22P	probably benign	Het
Dysf	T	C	6: 84,128,885 (GRCm39)	L1385P	probably damaging	Het
Egf	T	C	3: 129,491,421 (GRCm39)	T859A	probably benign	Het
Eif2b1	A	T	5: 124,711,867 (GRCm39)	S162T	probably benign	Het
Emilin1	T	C	5: 31,075,484 (GRCm39)	L575P	probably damaging	Het
Erp27	T	A	6: 136,886,550 (GRCm39)	Q161L	probably benign	Het
Fbxw10	C	A	11: 62,765,945 (GRCm39)	D738E	possibly damaging	Het
Fcgbp	T	G	7: 27,790,937 (GRCm39)	C733G	probably damaging	Het
Fgb	T	A	3: 82,957,122 (GRCm39)		probably benign	Het
Gata3os	A	T	2: 9,887,634 (GRCm39)	T12S	unknown	Het
Got1l1	G	T	8: 27,688,503 (GRCm39)	Q283K	probably benign	Het
Grk2	G	A	19: 4,340,871 (GRCm39)	R226C	probably damaging	Het
Hoxa10	T	C	6: 52,211,334 (GRCm39)	D194G	probably benign	Het
Ipcef1	G	A	10: 6,840,620 (GRCm39)	T363I	probably damaging	Het
Itga10	C	A	3: 96,564,273 (GRCm39)	T922N	probably damaging	Het
Itgad	T	C	7: 127,777,552 (GRCm39)	I144T	probably benign	Het
Kat6b	C	A	14: 21,567,564 (GRCm39)	Q208K	possibly damaging	Het
Kidins220	T	G	12: 25,088,383 (GRCm39)	L1042R	probably damaging	Het
Kmt2c	T	C	5: 25,486,355 (GRCm39)	S4733G	probably damaging	Het
Lrig3	A	G	10: 125,850,736 (GRCm39)	I1101V	probably benign	Het
Lrp1	T	A	10: 127,431,229 (GRCm39)	N311I	probably damaging	Het
Man2a1	A	T	17: 64,958,310 (GRCm39)	K275I	probably benign	Het
Map3k10	T	A	7: 27,364,434 (GRCm39)	N318I	probably damaging	Het
Map3k8	G	A	18: 4,333,869 (GRCm39)	R408W	probably damaging	Het
Mast1	A	G	8: 85,647,805 (GRCm39)	M523T	probably damaging	Het
Mast4	T	C	13: 102,873,593 (GRCm39)	H1925R	probably benign	Het
Med12l	C	T	3: 58,984,207 (GRCm39)	S461L	probably damaging	Het
Mfap1a	T	C	2: 121,333,237 (GRCm39)	K65E	probably damaging	Het
Mical1	T	C	10: 41,358,602 (GRCm39)	S507P	probably benign	Het
Miga2	T	C	2: 30,268,400 (GRCm39)	V433A	unknown	Het
Mpdz	T	C	4: 81,274,653 (GRCm39)	T848A	probably benign	Het
Mycn	A	G	12: 12,989,778 (GRCm39)	V206A	probably benign	Het
Ndst1	G	A	18: 60,838,220 (GRCm39)	Q342*	probably null	Het
Nectin1	A	G	9: 43,702,369 (GRCm39)	M39V	probably benign	Het
Nectin4	A	T	1: 171,210,209 (GRCm39)	R234*	probably null	Het
Ngb	C	G	12: 87,145,317 (GRCm39)	V113L	possibly damaging	Het
Nphp3	T	A	9: 103,913,337 (GRCm39)	Y990N	probably damaging	Het
Nrdc	T	C	4: 108,915,833 (GRCm39)		probably null	Het
Or10a2	A	T	7: 106,673,739 (GRCm39)	K235*	probably null	Het
Or1e23	T	A	11: 73,407,351 (GRCm39)	I225F	probably damaging	Het
Or5p60	T	A	7: 107,723,801 (GRCm39)	Y223F	probably benign	Het
Osbpl6	A	G	2: 76,415,603 (GRCm39)	Y655C	probably damaging	Het
Pcdhgb4	A	G	18: 37,855,882 (GRCm39)	Q759R	probably benign	Het
Pcsk4	T	C	10: 80,161,800 (GRCm39)	D164G	probably damaging	Het
Pde4d	T	A	13: 110,071,915 (GRCm39)	I303N	probably damaging	Het
Pdf	T	A	8: 107,774,972 (GRCm39)	M87L	probably benign	Het
Pigb	A	G	9: 72,941,840 (GRCm39)	S140P	probably damaging	Het
Plch1	T	A	3: 63,758,549 (GRCm39)		probably benign	Het
Plxna1	G	T	6: 89,319,633 (GRCm39)	D557E	probably benign	Het
Polr2e	C	T	10: 79,872,792 (GRCm39)	V149M	probably benign	Het
Polr3a	A	T	14: 24,503,313 (GRCm39)	C1174S	probably benign	Het
Prb1c	T	A	6: 132,338,891 (GRCm39)	N109I	unknown	Het
Psmd2	T	A	16: 20,474,369 (GRCm39)	S308R	probably benign	Het
Ptger1	T	A	8: 84,396,002 (GRCm39)	V353E	probably damaging	Het
Ptprc	A	G	1: 137,996,111 (GRCm39)	M940T	probably benign	Het
Pus7l	T	C	15: 94,425,781 (GRCm39)	N540S	probably damaging	Het
Rap1gds1	T	A	3: 138,756,317 (GRCm39)	I13L	probably benign	Het
Rasl10b	A	T	11: 83,303,590 (GRCm39)	N49I	probably damaging	Het
Rftn1	A	T	17: 50,301,237 (GRCm39)	N537K	probably benign	Het
Rnase4	A	G	14: 51,342,645 (GRCm39)	Y123C	probably damaging	Het
Rnf181	A	C	6: 72,338,302 (GRCm39)	N26K	probably benign	Het
Rnf31	G	A	14: 55,836,269 (GRCm39)		probably null	Het
Rpusd3	C	G	6: 113,393,200 (GRCm39)	C304S	unknown	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,664,270 (GRCm39)	V1694L	probably benign	Het
Sanbr	T	C	11: 23,559,098 (GRCm39)	Y372C	probably damaging	Het
Sephs2	T	C	7: 126,872,346 (GRCm39)	D249G	probably damaging	Het
Serpina10	A	G	12: 103,583,217 (GRCm39)	I409T	probably damaging	Het
Serpina5	C	T	12: 104,069,403 (GRCm39)	A205V	probably damaging	Het
Sfr1	T	A	19: 47,723,453 (GRCm39)	V319E	probably damaging	Het
Skil	T	A	3: 31,171,639 (GRCm39)	Y542N	probably benign	Het
Slc15a5	T	C	6: 138,049,954 (GRCm39)	T154A	probably benign	Het
Slc27a2	T	A	2: 126,429,846 (GRCm39)	L618Q	probably damaging	Het
Slc6a6	A	T	6: 91,726,808 (GRCm39)	Y483F	probably benign	Het
Sprr1b	T	C	3: 92,344,443 (GRCm39)	I144M	probably benign	Het
Stat5a	T	A	11: 100,771,161 (GRCm39)	V580E		Het
Tnk1	C	T	11: 69,746,011 (GRCm39)	D305N	probably damaging	Het
Tox2	A	G	2: 163,164,930 (GRCm39)	*523W	probably null	Het
Trav12-2	A	G	14: 53,854,085 (GRCm39)	N20D	probably benign	Het
Trav16	T	A	14: 53,981,046 (GRCm39)	N78K	probably damaging	Het
Trf	C	T	9: 103,104,130 (GRCm39)	A78T	probably damaging	Het
Ttn	A	G	2: 76,711,543 (GRCm39)		probably benign	Het
Vmn2r67	T	A	7: 84,785,834 (GRCm39)	M724L	probably benign	Het
Vmn2r94	A	T	17: 18,477,261 (GRCm39)	F383L	probably benign	Het
Vwa2	T	C	19: 56,895,208 (GRCm39)	S461P	probably benign	Het
Zfp991	G	A	4: 147,264,327 (GRCm39)	G568E	probably damaging	Het
Zfpl1	A	G	19: 6,134,440 (GRCm39)	F15S	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
R9269:Actn1	UTSW	12	80,219,745 (GRCm39)	missense	probably benign	0.01
R9520:Actn1	UTSW	12	80,240,417 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGGTCTGCAGCGTGTTAAAG -3'
(R):5'- TGCTCTTAGAGAATCCTGTGGTTC -3'

Sequencing Primer
(F):5'- AAAGTTGATCTCCAGCTGGC -3'
(R):5'- CCCGTATCAGGGCAGAGAAG -3'

Posted On

2022-07-18