Mutagenetix > Incidental Mutation

Incidental Mutation 'R8171:Actn1'

634142

Institutional Source

Beutler Lab

Gene Symbol

Actn1

Ensembl Gene

ENSMUSG00000015143

Gene Name

actinin, alpha 1

Synonyms

3110023F10Rik

MMRRC Submission

067597-MU

Accession Numbers

Essential gene?

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

Stock #

R8171 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80214321-80307145 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 80243167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021554 (fasta)

Gene Model

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

AlphaFold

Q7TPR4

Predicted Effect

probably null
Transcript: ENSMUST00000021554

SMART Domains

Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143

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 null
Transcript: ENSMUST00000167327

SMART Domains

Protein: ENSMUSP00000127176
Gene: ENSMUSG00000015143

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: 99.4%
20x: 97.9%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,383,982 (GRCm39)	A661E	probably benign	Het
Abhd14a	T	A	9: 106,317,960 (GRCm39)	T142S	probably benign	Het
Adss2	T	C	1: 177,623,917 (GRCm39)	N15S	probably benign	Het
Alpk2	A	G	18: 65,439,054 (GRCm39)	S780P	probably benign	Het
Asap1	G	T	15: 63,982,815 (GRCm39)	L830M	probably damaging	Het
Atic	T	C	1: 71,609,032 (GRCm39)	V319A	possibly damaging	Het
Atp8a2	A	T	14: 60,283,493 (GRCm39)	I87N	probably damaging	Het
Bace2	G	T	16: 97,225,786 (GRCm39)	V407L	possibly damaging	Het
Bltp1	T	C	3: 37,029,862 (GRCm39)	V2423A	probably benign	Het
Bmp3	A	T	5: 99,020,528 (GRCm39)	Y317F	probably damaging	Het
Ccdc159	A	G	9: 21,845,007 (GRCm39)	E291G	possibly damaging	Het
Cct8l1	T	A	5: 25,721,552 (GRCm39)	L89Q	probably damaging	Het
Cep83	T	A	10: 94,604,797 (GRCm39)	N503K	possibly damaging	Het
Ces4a	A	G	8: 105,873,839 (GRCm39)	Y436C	probably damaging	Het
Cftr	T	A	6: 18,258,287 (GRCm39)	D579E	probably damaging	Het
Chd9	T	A	8: 91,752,015 (GRCm39)	V1751D	possibly damaging	Het
Clasp2	A	T	9: 113,732,974 (GRCm39)	T937S	possibly damaging	Het
Clock	T	A	5: 76,414,261 (GRCm39)	D17V	possibly damaging	Het
Cpm	T	C	10: 117,519,220 (GRCm39)	L376P	probably damaging	Het
Crocc2	T	C	1: 93,116,723 (GRCm39)		probably null	Het
Csnk1g2	A	G	10: 80,475,636 (GRCm39)	D401G	probably damaging	Het
Cyb5r4	C	T	9: 86,924,863 (GRCm39)	L206F	possibly damaging	Het
Cyp1a1	T	A	9: 57,607,479 (GRCm39)	W36R	probably benign	Het
Cyp3a59	A	T	5: 146,022,584 (GRCm39)	H30L	probably damaging	Het
Dab2	G	A	15: 6,453,407 (GRCm39)	V182I	probably benign	Het
Dnah1	G	T	14: 31,019,067 (GRCm39)	F1342L	probably damaging	Het
Draxin	A	T	4: 148,200,123 (GRCm39)	L109Q	possibly damaging	Het
Elfn1	G	A	5: 139,957,112 (GRCm39)	V39M	probably damaging	Het
Erlin1	A	G	19: 44,057,768 (GRCm39)	I19T	probably benign	Het
F830016B08Rik	T	A	18: 60,433,150 (GRCm39)	S78T	possibly damaging	Het
Fer1l4	A	G	2: 155,890,151 (GRCm39)	V258A	probably benign	Het
Fgb	T	C	3: 82,949,822 (GRCm39)	D445G	probably damaging	Het
Fgd6	T	C	10: 93,910,194 (GRCm39)		probably null	Het
Frem3	T	A	8: 81,341,869 (GRCm39)	D1387E	probably damaging	Het
Gdf3	T	C	6: 122,586,862 (GRCm39)	T22A	probably benign	Het
Glcci1	C	T	6: 8,593,167 (GRCm39)	A511V	probably benign	Het
Gldc	A	T	19: 30,111,161 (GRCm39)	N538K	probably benign	Het
Glipr1l1	C	T	10: 111,914,289 (GRCm39)	P217S	probably benign	Het
Gpr161	A	G	1: 165,134,005 (GRCm39)	N89S	probably damaging	Het
Gypa	T	A	8: 81,236,092 (GRCm39)	S166T	probably benign	Het
Hcar1	A	G	5: 124,017,152 (GRCm39)	S180P	probably damaging	Het
Hcn1	T	C	13: 117,739,270 (GRCm39)	S11P	unknown	Het
Hectd4	A	G	5: 121,456,819 (GRCm39)	E728G	possibly damaging	Het
Ints14	A	T	9: 64,880,532 (GRCm39)	H213L	possibly damaging	Het
Itih1	A	T	14: 30,659,047 (GRCm39)	M323K	possibly damaging	Het
Ivl	A	G	3: 92,479,085 (GRCm39)	S327P	probably damaging	Het
Kcnt2	T	A	1: 140,437,203 (GRCm39)	N545K	probably benign	Het
Kdm4b	A	T	17: 56,696,534 (GRCm39)	R417W	probably damaging	Het
Kif13a	T	C	13: 46,932,444 (GRCm39)	E1083G	probably damaging	Het
Klhl40	A	T	9: 121,607,623 (GRCm39)	H261L	probably benign	Het
Kpnb1	A	G	11: 97,066,573 (GRCm39)		probably null	Het
Lamc3	C	A	2: 31,804,983 (GRCm39)	T621N	probably benign	Het
Lingo3	T	C	10: 80,670,595 (GRCm39)	H445R	probably benign	Het
Ly75	G	A	2: 60,144,572 (GRCm39)	T1297I	possibly damaging	Het
Lypd6	C	T	2: 50,080,759 (GRCm39)	T149M	possibly damaging	Het
Mcrs1	A	T	15: 99,146,613 (GRCm39)	D139E	probably damaging	Het
Muc5b	G	A	7: 141,414,737 (GRCm39)	S2561N	unknown	Het
Mybpc1	C	T	10: 88,358,865 (GRCm39)	G1095R	probably damaging	Het
Myh1	A	G	11: 67,093,398 (GRCm39)	Y163C	probably damaging	Het
Notch4	T	A	17: 34,801,483 (GRCm39)	C1110*	probably null	Het
Nt5el	T	A	13: 105,246,291 (GRCm39)	V284E	probably benign	Het
Or12j2	A	T	7: 139,916,143 (GRCm39)	I123F	probably damaging	Het
Or2ag1	C	T	7: 106,313,825 (GRCm39)	S21N	probably benign	Het
Or2ag1	T	A	7: 106,313,826 (GRCm39)	S21C		Het
Or4c10b	A	G	2: 89,711,409 (GRCm39)	I80V	probably benign	Het
Pcsk1	T	A	13: 75,238,210 (GRCm39)	C10*	probably null	Het
Pdlim5	A	T	3: 142,017,948 (GRCm39)	S107T	probably benign	Het
Plac8l1	T	A	18: 42,313,445 (GRCm39)	D99V	probably damaging	Het
Plin2	A	T	4: 86,575,349 (GRCm39)	V400E	probably damaging	Het
Plxna1	G	A	6: 89,334,102 (GRCm39)	P176S	probably benign	Het
Pnn	A	G	12: 59,117,223 (GRCm39)	K238R	probably damaging	Het
Pou5f1	A	G	17: 35,820,933 (GRCm39)	E231G	probably benign	Het
Ppara	A	T	15: 85,682,077 (GRCm39)	M258L	probably benign	Het
Prune2	G	A	19: 17,097,882 (GRCm39)	D1129N	probably damaging	Het
Rai14	G	A	15: 10,633,249 (GRCm39)	T47M	probably damaging	Het
Rdh5	T	C	10: 128,753,969 (GRCm39)	I117V	probably benign	Het
Rpain	G	A	11: 70,864,724 (GRCm39)	C137Y	probably damaging	Het
Scn3a	A	G	2: 65,361,154 (GRCm39)	V126A	possibly damaging	Het
Senp7	G	T	16: 55,932,089 (GRCm39)	L129F	probably damaging	Het
Setd1a	A	G	7: 127,390,399 (GRCm39)	D1025G	unknown	Het
Sirt4	A	T	5: 115,621,082 (GRCm39)	V30E	probably damaging	Het
Slit1	C	A	19: 41,715,512 (GRCm39)	R113L	probably damaging	Het
Stxbp5l	G	A	16: 37,028,416 (GRCm39)	T549I	noncoding transcript	Het
Sytl2	A	G	7: 90,058,678 (GRCm39)	M926V	probably damaging	Het
Tgfbr2	C	T	9: 115,959,074 (GRCm39)	W113*	probably null	Het
Tmem86a	A	G	7: 46,703,512 (GRCm39)	Y213C	probably damaging	Het
Tpo	T	A	12: 30,154,045 (GRCm39)	Y220F	probably damaging	Het
Ttc6	C	A	12: 57,720,096 (GRCm39)	A889E	probably damaging	Het
Tyw1	A	G	5: 130,328,855 (GRCm39)	D547G	probably benign	Het
Ubtfl1	A	G	9: 18,320,523 (GRCm39)	K17R	probably benign	Het
Usp46	T	A	5: 74,163,354 (GRCm39)	I331F	probably benign	Het
Vmn2r111	T	C	17: 22,792,073 (GRCm39)	H61R	probably benign	Het
Wdr75	T	A	1: 45,861,706 (GRCm39)	N715K	probably benign	Het
Wdr97	C	A	15: 76,247,819 (GRCm39)	F1614L		Het
Zfp772	A	T	7: 7,207,096 (GRCm39)	C198*	probably null	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
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'- ATATACGTGCAAAGGGACCC -3'
(R):5'- AGGCAGAAAGTCTCCCTTCC -3'

Sequencing Primer
(F):5'- ATGTGCACGCTGGGTAAC -3'
(R):5'- GCAGAAAGTCTCCCTTCCCTTCC -3'

Posted On

2020-07-13