Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Actl7a'

43693

Institutional Source

Beutler Lab

Gene Symbol

Actl7a

Ensembl Gene

ENSMUSG00000070979

Gene Name

actin-like 7a

Synonyms

Tact2, t-actin 2

MMRRC Submission

038340-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.594) question?

Stock #

R0046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56743422-56744925 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 56743877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 135 (K135*)

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: K135*

SMART Domains

Protein: ENSMUSP00000092692
Gene: ENSMUSG00000070979
AA Change: K135*

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

Meta Mutation Damage Score

0.9705

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (83/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	A	G	13: 70,911,579 (GRCm39)	S871P	probably benign	Het
Adcy10	A	T	1: 165,367,403 (GRCm39)	I558F	probably damaging	Het
Adsl	T	G	15: 80,846,989 (GRCm39)		probably null	Het
Aldob	T	C	4: 49,543,842 (GRCm39)	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247 (GRCm39)	E46G	probably damaging	Het
Ankrd33b	G	A	15: 31,367,483 (GRCm39)	P19L	probably damaging	Het
Apoa5	T	C	9: 46,181,296 (GRCm39)	L124S	probably damaging	Het
Atp1a4	A	T	1: 172,067,664 (GRCm39)	L533Q	probably benign	Het
Atp7b	T	C	8: 22,550,011 (GRCm39)	T9A	probably benign	Het
Auh	G	A	13: 53,083,421 (GRCm39)		probably benign	Het
B3gnt3	T	C	8: 72,145,567 (GRCm39)	Y267C	probably damaging	Het
Card11	T	C	5: 140,894,279 (GRCm39)	T117A	possibly damaging	Het
Ccdc39	A	G	3: 33,898,301 (GRCm39)	F15L	possibly damaging	Het
Chtf18	C	T	17: 25,942,434 (GRCm39)	R468Q	probably benign	Het
Cntnap5c	T	G	17: 58,666,295 (GRCm39)	D1108E	probably benign	Het
Col14a1	G	A	15: 55,272,359 (GRCm39)		probably benign	Het
Col6a6	C	T	9: 105,626,047 (GRCm39)		probably benign	Het
Col9a3	G	A	2: 180,251,280 (GRCm39)	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,609,256 (GRCm39)		probably benign	Het
Cpt2	A	G	4: 107,761,559 (GRCm39)		probably null	Het
Crebrf	T	A	17: 26,982,308 (GRCm39)	L565M	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,666,236 (GRCm39)		noncoding transcript	Het
Dhx9	C	T	1: 153,348,453 (GRCm39)	V291M	probably benign	Het
Dmxl1	T	A	18: 50,011,149 (GRCm39)	V1102E	probably benign	Het
Dnah7a	A	T	1: 53,496,033 (GRCm39)		probably null	Het
Dock4	G	A	12: 40,787,359 (GRCm39)		probably benign	Het
Dpp3	G	T	19: 4,964,671 (GRCm39)	N545K	probably damaging	Het
Elmo2	T	A	2: 165,140,646 (GRCm39)	N275I	probably damaging	Het
Farp1	A	G	14: 121,492,925 (GRCm39)	K509R	probably benign	Het
Fat3	T	C	9: 15,877,275 (GRCm39)	Y3446C	possibly damaging	Het
Fgd2	T	A	17: 29,593,964 (GRCm39)		probably benign	Het
Flg	T	A	3: 93,185,028 (GRCm39)		probably benign	Het
Gas2l2	A	T	11: 83,312,736 (GRCm39)	W859R	probably damaging	Het
Gatm	T	C	2: 122,431,225 (GRCm39)	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998 (GRCm39)	I27F	probably damaging	Het
Gsdmc2	C	A	15: 63,699,604 (GRCm39)		probably benign	Het
Haus5	C	T	7: 30,353,605 (GRCm39)	V591I	probably benign	Het
Kcnab3	G	A	11: 69,221,053 (GRCm39)		probably null	Het
Khdrbs2	A	G	1: 32,658,283 (GRCm39)	D281G	possibly damaging	Het
Krt86	A	T	15: 101,375,283 (GRCm39)	M393L	probably benign	Het
Limk1	T	C	5: 134,701,615 (GRCm39)	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,466,192 (GRCm39)	Y100*	probably null	Het
Mamstr	T	G	7: 45,291,194 (GRCm39)		probably benign	Het
Man1a	A	G	10: 53,795,283 (GRCm39)	Y657H	probably damaging	Het
Marf1	G	A	16: 13,929,591 (GRCm39)	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,686,817 (GRCm39)	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,401,417 (GRCm39)	N881I	probably damaging	Het
Nox3	T	C	17: 3,733,236 (GRCm39)	Y225C	probably benign	Het
Nrp1	C	T	8: 129,227,089 (GRCm39)		probably benign	Het
Or11g26	T	A	14: 50,753,596 (GRCm39)	*312K	probably null	Het
Or4c109	C	T	2: 88,817,693 (GRCm39)	M284I	probably benign	Het
Or4c35	C	T	2: 89,808,851 (GRCm39)	T243I	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or8k33	A	G	2: 86,383,976 (GRCm39)	F164S	probably damaging	Het
Pcdhb13	A	T	18: 37,577,310 (GRCm39)	M563L	probably benign	Het
Pclo	C	T	5: 14,590,493 (GRCm39)	T931M	unknown	Het
Peli2	C	T	14: 48,358,659 (GRCm39)	P16S	possibly damaging	Het
Pfas	G	T	11: 68,881,293 (GRCm39)	R1025S	probably benign	Het
Pik3c2a	A	T	7: 115,953,307 (GRCm39)	I1196N	probably damaging	Het
Pmfbp1	A	T	8: 110,262,617 (GRCm39)		probably benign	Het
Prg4	T	C	1: 150,331,837 (GRCm39)	T279A	possibly damaging	Het
Psma1	A	T	7: 113,866,440 (GRCm39)		probably benign	Het
Rab11fip1	A	G	8: 27,643,149 (GRCm39)	L550P	probably damaging	Het
Rgs12	T	A	5: 35,122,664 (GRCm39)	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,376,215 (GRCm39)	H195R	probably damaging	Het
Rnf17	T	C	14: 56,708,830 (GRCm39)	L750P	probably damaging	Het
Rtcb	T	C	10: 85,793,520 (GRCm39)	N18D	probably benign	Het
Seh1l	T	C	18: 67,925,086 (GRCm39)		probably null	Het
Sis	T	G	3: 72,839,427 (GRCm39)	N813T	probably benign	Het
Sptbn2	T	C	19: 4,795,405 (GRCm39)		probably benign	Het
Stag3	C	T	5: 138,281,285 (GRCm39)		probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Taok3	C	T	5: 117,410,294 (GRCm39)	Q829*	probably null	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tsbp1	T	C	17: 34,679,095 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,781,886 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,091,940 (GRCm39)	E1756G	probably damaging	Het
Usp35	A	T	7: 96,962,804 (GRCm39)		probably null	Het
Vmn2r111	A	G	17: 22,766,990 (GRCm39)	F836L	probably benign	Het
Vmn2r77	A	G	7: 86,451,146 (GRCm39)	D344G	possibly damaging	Het
Zbtb40	A	G	4: 136,714,589 (GRCm39)	C1067R	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
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
R6786:Actl7a	UTSW	4	56,744,116 (GRCm39)	nonsense	probably null
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'- GACCTGCCAAGAAAGCTAGTGACC -3'
(R):5'- AAACAGCATCTCGGCGTACTTCTC -3'

Sequencing Primer
(F):5'- TCAACTATGTCCAAGGATAGGC -3'
(R):5'- ACTTCTCTCTGTTGGTATGAGGAC -3'

Posted On

2013-05-29