Mutagenetix > Incidental Mutation

Incidental Mutation 'R4966:Actn1'

384032

Institutional Source

Beutler Lab

Gene Symbol

Actn1

Ensembl Gene

ENSMUSG00000015143

Gene Name

actinin, alpha 1

Synonyms

3110023F10Rik

MMRRC Submission

042562-MU

Accession Numbers

Essential gene?

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

Stock #

R4966 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80214321-80307145 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80219904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 656 (I656V)

Ref Sequence

ENSEMBL: ENSMUSP00000127176 (fasta)

Gene Model

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

AlphaFold

Q7TPR4

Predicted Effect

probably benign
Transcript: ENSMUST00000021554
AA Change: I656V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143
AA Change: I656V

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: I656V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000127176
Gene: ENSMUSG00000015143
AA Change: I656V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219634

Meta Mutation Damage Score

0.0889

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.6%

Validation Efficiency

96% (94/98)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,610,757 (GRCm39)		probably benign	Het
9030619P08Rik	T	A	15: 75,303,267 (GRCm39)		noncoding transcript	Het
Abcb5	T	A	12: 118,850,626 (GRCm39)		probably benign	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Arhgef15	A	G	11: 68,838,143 (GRCm39)	V659A	probably benign	Het
AW551984	T	C	9: 39,508,472 (GRCm39)	E348G	possibly damaging	Het
Bbs2	A	T	8: 94,807,435 (GRCm39)	V453E	probably damaging	Het
Caskin1	A	T	17: 24,726,135 (GRCm39)	D1414V	probably damaging	Het
Ccdc57	A	T	11: 120,751,978 (GRCm39)	S868T	probably benign	Het
Cdc34b	A	T	11: 94,633,087 (GRCm39)	I96F	probably damaging	Het
Ctnnd1	A	G	2: 84,452,417 (GRCm39)	F69L	possibly damaging	Het
Cyld	A	G	8: 89,468,929 (GRCm39)	I567V	possibly damaging	Het
Dact3	G	C	7: 16,620,013 (GRCm39)	V503L	unknown	Het
Dlg1	C	T	16: 31,573,626 (GRCm39)	T9I	probably benign	Het
Dnase1	T	C	16: 3,855,771 (GRCm39)		probably benign	Het
Drc7	G	A	8: 95,798,224 (GRCm39)	E490K	probably benign	Het
Drd4	T	C	7: 140,873,690 (GRCm39)	M114T	probably damaging	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
Fgfr1	C	A	8: 26,062,461 (GRCm39)	Y665*	probably null	Het
G2e3	A	G	12: 51,418,413 (GRCm39)	I603V	probably benign	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gnat1	A	T	9: 107,554,433 (GRCm39)	M115K	probably benign	Het
Gpr45	A	G	1: 43,072,280 (GRCm39)	T308A	probably benign	Het
Grm1	T	A	10: 10,595,409 (GRCm39)	K740*	probably null	Het
Gtsf2	T	C	15: 103,352,755 (GRCm39)	E88G	possibly damaging	Het
Hsh2d	C	T	8: 72,947,372 (GRCm39)	A23V	probably benign	Het
Ino80c	T	C	18: 24,239,702 (GRCm39)	D153G	probably damaging	Het
Ints11	T	C	4: 155,971,385 (GRCm39)	F278L	probably damaging	Het
Ints6	A	G	14: 62,939,911 (GRCm39)	L593P	probably damaging	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mipep	G	T	14: 61,022,231 (GRCm39)	R32L	probably damaging	Het
Mon1a	A	G	9: 107,779,850 (GRCm39)	E473G	probably damaging	Het
Myf5	A	T	10: 107,321,733 (GRCm39)	C20*	probably null	Het
Myh11	T	C	16: 14,023,818 (GRCm39)	E1512G	probably damaging	Het
Myo5c	T	C	9: 75,176,878 (GRCm39)	S608P	probably benign	Het
Myo9a	A	G	9: 59,779,017 (GRCm39)	D1591G	probably benign	Het
Myof	T	A	19: 37,924,300 (GRCm39)	I1306F	probably damaging	Het
Nlgn1	C	T	3: 25,974,401 (GRCm39)	G165D	possibly damaging	Het
Noc2l	C	G	4: 156,330,368 (GRCm39)	D513E	probably damaging	Het
Nup205	G	A	6: 35,220,784 (GRCm39)	R1862H	probably benign	Het
Nup210l	A	G	3: 90,014,208 (GRCm39)	H65R	probably benign	Het
Or2y16	A	G	11: 49,334,945 (GRCm39)	D89G	possibly damaging	Het
Or9k7	A	T	10: 130,046,306 (GRCm39)	M231K	probably benign	Het
Pcmtd1	C	A	1: 7,231,233 (GRCm39)	Y176*	probably null	Het
Pde6h	C	T	6: 136,938,201 (GRCm39)	T58I	possibly damaging	Het
Pkd1	T	C	17: 24,805,042 (GRCm39)		probably null	Het
Polr1e	G	A	4: 45,029,429 (GRCm39)	A297T	probably damaging	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rdx	T	C	9: 51,986,309 (GRCm39)	V372A	probably benign	Het
Reep6	T	A	10: 80,169,633 (GRCm39)	F107Y	probably benign	Het
Rere	G	T	4: 150,698,273 (GRCm39)		probably benign	Het
Rmdn2	G	T	17: 79,974,304 (GRCm39)	A266S	probably damaging	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Rnpepl1	A	T	1: 92,844,483 (GRCm39)	N325I	probably damaging	Het
Rps6ka5	T	A	12: 100,519,325 (GRCm39)	M763L	probably benign	Het
Ryr2	T	C	13: 11,729,497 (GRCm39)	E2375G	possibly damaging	Het
Ryr2	T	C	13: 11,848,878 (GRCm39)	T361A	probably benign	Het
Serpina3j	T	A	12: 104,286,043 (GRCm39)	C399*	probably null	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Sim2	T	C	16: 93,924,280 (GRCm39)	V475A	probably benign	Het
Slc24a5	G	A	2: 124,910,188 (GRCm39)	V30I	probably benign	Het
Snrnp25	A	G	11: 32,157,595 (GRCm39)	K58E	probably damaging	Het
Stx1b	T	C	7: 127,407,093 (GRCm39)	I55V	probably damaging	Het
Tacc2	T	C	7: 130,330,507 (GRCm39)	S264P	probably damaging	Het
Tbc1d4	A	T	14: 101,695,610 (GRCm39)	Y943N	probably damaging	Het
Tlr5	T	C	1: 182,801,038 (GRCm39)	I114T	probably benign	Het
Tm2d3	A	G	7: 65,347,469 (GRCm39)	N101S	possibly damaging	Het
Tmem201	G	T	4: 149,803,144 (GRCm39)	Q575K	probably benign	Het
Tmem241	A	G	18: 12,237,176 (GRCm39)	S87P	probably damaging	Het
Trak2	G	A	1: 58,958,480 (GRCm39)	T267I	probably damaging	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Ttbk2	A	T	2: 120,603,758 (GRCm39)	F258L	possibly damaging	Het
Ttk	T	A	9: 83,747,201 (GRCm39)	I680N	probably benign	Het
Ttn	T	C	2: 76,785,380 (GRCm39)	D665G	probably damaging	Het
Tulp4	G	A	17: 6,249,088 (GRCm39)	E36K	probably damaging	Het
Unc93b1	T	C	19: 3,992,023 (GRCm39)		probably null	Het
Uroc1	T	C	6: 90,322,376 (GRCm39)	L300P	probably damaging	Het
Vmn2r67	A	T	7: 84,785,593 (GRCm39)	V804E	probably damaging	Het
Wdr81	T	A	11: 75,336,775 (GRCm39)	Q1538L	probably benign	Het
Zfp457	T	A	13: 67,441,342 (GRCm39)	H315L	probably damaging	Het
Zfp518a	T	A	19: 40,904,295 (GRCm39)	V1408D	possibly damaging	Het
Zfp52	T	G	17: 21,780,665 (GRCm39)	L171R	probably benign	Het
Zfp712	C	T	13: 67,188,676 (GRCm39)	C617Y	probably damaging	Het
Zfp770	T	C	2: 114,027,868 (GRCm39)	N67S	probably benign	Het
Zmat4	T	C	8: 24,392,085 (GRCm39)	S83P	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
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
R9526:Actn1	UTSW	12	80,230,393 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATTCATTGGGAGATGCTACC -3'
(R):5'- CTATCAAGGAACGTCCACGC -3'

Sequencing Primer
(F):5'- TCATTGGGAGATGCTACCCCAAATG -3'
(R):5'- GGAACGTCCACGCTAAATAGCTTTC -3'

Posted On

2016-04-27