Mutagenetix > Incidental Mutation

Incidental Mutation 'R6786:Actl7a'

532357

Institutional Source

Beutler Lab

Gene Symbol

Actl7a

Ensembl Gene

ENSMUSG00000070979

Gene Name

actin-like 7a

Synonyms

Tact2, t-actin 2

MMRRC Submission

044900-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.594) question?

Stock #

R6786 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56743422-56744925 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 56744116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 214 (Y214*)

Ref Sequence

ENSEMBL: ENSMUSP00000092692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095079] [ENSMUST00000095080] [ENSMUST00000181745]

AlphaFold

Q9QY84

Predicted Effect

probably null
Transcript: ENSMUST00000095079
AA Change: Y214*

SMART Domains

Protein: ENSMUSP00000092692
Gene: ENSMUSG00000070979
AA Change: Y214*

Domain	Start	End	E-Value	Type
Pfam:ACTL7A_N	6	70	1.3e-39	PFAM
ACTIN	74	440	4.63e-123	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095080

SMART Domains

Protein: ENSMUSP00000092693
Gene: ENSMUSG00000070980

Domain	Start	End	E-Value	Type
ACTIN	51	418	1.6e-117	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000181745

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

96% (66/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	A	G	18: 80,172,960 (GRCm39)	V483A	probably benign	Het
Aif1	C	T	17: 35,390,472 (GRCm39)	V93M	probably damaging	Het
Alpk2	A	G	18: 65,439,705 (GRCm39)	S563P	probably benign	Het
Ank2	A	T	3: 126,752,581 (GRCm39)	N378K	probably damaging	Het
Ano4	C	T	10: 88,828,732 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,658,497 (GRCm39)	C2169Y	probably damaging	Het
Atp2b1	T	C	10: 98,852,821 (GRCm39)	C101R	probably damaging	Het
Bcs1l	C	T	1: 74,629,844 (GRCm39)	R224C	probably damaging	Het
Car2	T	C	3: 14,951,710 (GRCm39)		probably benign	Het
Cbln1	T	C	8: 88,198,657 (GRCm39)	N71S	probably benign	Het
Cdh8	T	A	8: 99,950,579 (GRCm39)	T224S	probably benign	Het
Cdin1	A	G	2: 115,462,462 (GRCm39)	I65V	probably benign	Het
Cep131	G	A	11: 119,956,218 (GRCm39)	R1014W	probably damaging	Het
Cfap61	T	C	2: 145,887,363 (GRCm39)	S603P	possibly damaging	Het
Chd8	G	T	14: 52,464,125 (GRCm39)	L659I	probably benign	Het
Ckap5	G	A	2: 91,387,920 (GRCm39)	G255D	probably benign	Het
Clec18a	C	A	8: 111,807,572 (GRCm39)	W126L	probably benign	Het
Cux1	T	A	5: 136,596,085 (GRCm39)	N4Y	probably damaging	Het
Dgcr8	A	T	16: 18,101,693 (GRCm39)	Y196*	probably null	Het
Dnah14	A	T	1: 181,468,970 (GRCm39)	I1267F	probably benign	Het
Dock7	T	C	4: 98,949,529 (GRCm39)	N438D	probably benign	Het
Dock8	A	T	19: 25,160,386 (GRCm39)	H1763L	possibly damaging	Het
Elp1	T	C	4: 56,771,555 (GRCm39)	D914G	possibly damaging	Het
Fpr-rs6	A	T	17: 20,403,100 (GRCm39)	M87K	possibly damaging	Het
Gabrg1	A	G	5: 70,911,610 (GRCm39)	S339P	probably benign	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gm12695	A	G	4: 96,651,058 (GRCm39)	S132P	probably damaging	Het
Gm3443	T	A	19: 21,533,128 (GRCm39)	C31S	probably damaging	Het
Gzmf	A	T	14: 56,444,452 (GRCm39)	F40L	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,072,522 (GRCm39)	E604G	probably benign	Het
Marveld3	C	A	8: 110,674,732 (GRCm39)	K361N	probably benign	Het
Mgat4b	A	T	11: 50,121,525 (GRCm39)	Y47F	probably damaging	Het
Mmel1	G	T	4: 154,976,885 (GRCm39)	E520*	probably null	Het
Msantd5f6	A	T	4: 73,321,843 (GRCm39)	M64K	possibly damaging	Het
Muc21	T	C	17: 35,934,057 (GRCm39)		probably benign	Het
Myod1	A	G	7: 46,027,741 (GRCm39)	T294A	probably benign	Het
Nfix	A	T	8: 85,454,276 (GRCm39)	S219T	probably damaging	Het
Nr4a2	A	G	2: 57,001,920 (GRCm39)	F115L	probably benign	Het
Numa1	A	C	7: 101,641,845 (GRCm39)	M98L	probably benign	Het
Or5b105	T	C	19: 13,080,567 (GRCm39)	I28V	probably benign	Het
P3h1	C	T	4: 119,095,151 (GRCm39)	L303F	possibly damaging	Het
Pias4	G	A	10: 80,993,080 (GRCm39)	T5I	probably damaging	Het
Pik3ip1	A	G	11: 3,282,124 (GRCm39)	N68S	probably benign	Het
Pkdrej	T	C	15: 85,702,850 (GRCm39)	T1029A	probably benign	Het
Recql	A	T	6: 142,310,278 (GRCm39)	D517E	probably benign	Het
Sall2	G	T	14: 52,552,078 (GRCm39)	H372Q	probably damaging	Het
Scn8a	A	C	15: 100,930,096 (GRCm39)	I1436L	probably benign	Het
Slc4a5	T	C	6: 83,273,729 (GRCm39)		probably null	Het
Stox2	A	C	8: 47,639,500 (GRCm39)	F898C	probably damaging	Het
Sumo2	A	T	11: 115,414,601 (GRCm39)		probably null	Het
Sycp2	C	T	2: 178,025,345 (GRCm39)	E366K	possibly damaging	Het
Tanc1	A	G	2: 59,622,150 (GRCm39)	K423R	probably benign	Het
Tbx21	T	A	11: 97,005,872 (GRCm39)	Q31L	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tfdp1	C	T	8: 13,420,485 (GRCm39)	R105W	probably damaging	Het
Trav18	G	A	14: 54,069,122 (GRCm39)	V55I	probably benign	Het
Trgc1	A	T	13: 19,400,646 (GRCm39)	D125V	unknown	Het
Trim55	A	G	3: 19,726,938 (GRCm39)	D335G	probably benign	Het
Trim71	T	A	9: 114,341,772 (GRCm39)	T837S	probably benign	Het
Vmn1r56	T	C	7: 5,198,961 (GRCm39)	T219A	probably benign	Het
Vmn2r17	A	T	5: 109,575,695 (GRCm39)	T189S	probably benign	Het
Xaf1	A	G	11: 72,197,461 (GRCm39)	T146A	probably benign	Het
Zdbf2	T	C	1: 63,343,679 (GRCm39)	V686A	possibly damaging	Het
Zfp65	T	C	13: 67,856,130 (GRCm39)	H383R	probably damaging	Het
Zfp932	A	G	5: 110,157,606 (GRCm39)	T435A	probably damaging	Het
Zfp947	C	T	17: 22,364,750 (GRCm39)	G308D	probably benign	Het
Zswim3	T	A	2: 164,662,771 (GRCm39)	V417E	probably damaging	Het

Other mutations in Actl7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Actl7a	APN	4	56,743,944 (GRCm39)	missense	possibly damaging	0.86
IGL01767:Actl7a	APN	4	56,743,980 (GRCm39)	missense	probably damaging	1.00
IGL02626:Actl7a	APN	4	56,744,353 (GRCm39)	missense	possibly damaging	0.89
R0046:Actl7a	UTSW	4	56,743,877 (GRCm39)	nonsense	probably null
R0046:Actl7a	UTSW	4	56,743,877 (GRCm39)	nonsense	probably null
R1741:Actl7a	UTSW	4	56,744,252 (GRCm39)	missense	probably benign	0.03
R1920:Actl7a	UTSW	4	56,744,135 (GRCm39)	missense	probably damaging	1.00
R2984:Actl7a	UTSW	4	56,744,531 (GRCm39)	missense	probably benign	0.00
R3716:Actl7a	UTSW	4	56,744,295 (GRCm39)	missense	possibly damaging	0.67
R4779:Actl7a	UTSW	4	56,743,632 (GRCm39)	missense	probably benign	0.07
R5391:Actl7a	UTSW	4	56,743,661 (GRCm39)	missense	probably benign
R5540:Actl7a	UTSW	4	56,744,388 (GRCm39)	missense	probably benign	0.00
R5723:Actl7a	UTSW	4	56,744,310 (GRCm39)	missense	probably damaging	0.99
R5902:Actl7a	UTSW	4	56,743,827 (GRCm39)	missense	probably damaging	1.00
R5903:Actl7a	UTSW	4	56,743,827 (GRCm39)	missense	probably damaging	1.00
R5922:Actl7a	UTSW	4	56,743,827 (GRCm39)	missense	probably damaging	1.00
R6010:Actl7a	UTSW	4	56,743,870 (GRCm39)	missense	possibly damaging	0.50
R7168:Actl7a	UTSW	4	56,743,769 (GRCm39)	missense	probably benign
R7568:Actl7a	UTSW	4	56,744,498 (GRCm39)	missense	probably damaging	1.00
R8230:Actl7a	UTSW	4	56,743,768 (GRCm39)	missense	probably damaging	1.00
R8305:Actl7a	UTSW	4	56,743,744 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- CATGGCATCATTGTGGACTG -3'
(R):5'- CGAGATGGTCCTCAGAGAAGTG -3'

Sequencing Primer
(F):5'- AGGACATCTGGGAATACCTCTTC -3'
(R):5'- CCTCAGAGAAGTGTTTTCCAGAG -3'

Posted On

2018-08-29