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

Ncbi RefSeq: NM_009611.3; MGI:1343051

Essential gene?

Possibly essential (E-score: 0.629) question?

Stock #

R0046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56743413-56744925 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 56743877 bp (GRCm38)

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: 70,763,460	S871P	probably benign	Het
Adcy10	A	T	1: 165,539,834	I558F	probably damaging	Het
Adsl	T	G	15: 80,962,788		probably null	Het
Aldob	T	C	4: 49,543,842	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247	E46G	probably damaging	Het
Ankrd33b	G	A	15: 31,367,337	P19L	probably damaging	Het
Apoa5	T	C	9: 46,269,998	L124S	probably damaging	Het
Atp1a4	A	T	1: 172,240,097	L533Q	probably benign	Het
Atp7b	T	C	8: 22,059,995	T9A	probably benign	Het
Auh	G	A	13: 52,929,385		probably benign	Het
B3gnt3	T	C	8: 71,692,923	Y267C	probably damaging	Het
BC051142	T	C	17: 34,460,121		probably null	Het
Card11	T	C	5: 140,908,524	T117A	possibly damaging	Het
Ccdc39	A	G	3: 33,844,152	F15L	possibly damaging	Het
Chtf18	C	T	17: 25,723,460	R468Q	probably benign	Het
Cntnap5c	T	G	17: 58,359,300	D1108E	probably benign	Het
Col14a1	G	A	15: 55,408,963		probably benign	Het
Col6a6	C	T	9: 105,748,848		probably benign	Het
Col9a3	G	A	2: 180,609,487	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,959,832		probably benign	Het
Cpt2	A	G	4: 107,904,362		probably null	Het
Crebrf	T	A	17: 26,763,334	L565M	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,782,035		noncoding transcript	Het
Dhx9	C	T	1: 153,472,707	V291M	probably benign	Het
Dmxl1	T	A	18: 49,878,082	V1102E	probably benign	Het
Dnah7a	A	T	1: 53,456,874		probably null	Het
Dock4	G	A	12: 40,737,360		probably benign	Het
Dpp3	G	T	19: 4,914,643	N545K	probably damaging	Het
Elmo2	T	A	2: 165,298,726	N275I	probably damaging	Het
Farp1	A	G	14: 121,255,513	K509R	probably benign	Het
Fat3	T	C	9: 15,965,979	Y3446C	possibly damaging	Het
Fgd2	T	A	17: 29,374,990		probably benign	Het
Flg	T	A	3: 93,277,721		probably benign	Het
Gas2l2	A	T	11: 83,421,910	W859R	probably damaging	Het
Gatm	T	C	2: 122,600,744	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998	I27F	probably damaging	Het
Gsdmc2	C	A	15: 63,827,755		probably benign	Het
Haus5	C	T	7: 30,654,180	V591I	probably benign	Het
Kcnab3	G	A	11: 69,330,227		probably null	Het
Khdrbs2	A	G	1: 32,619,202	D281G	possibly damaging	Het
Krt86	A	T	15: 101,477,402	M393L	probably benign	Het
Limk1	T	C	5: 134,672,761	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,013,155	Y100*	probably null	Het
Mamstr	T	G	7: 45,641,770		probably benign	Het
Man1a	A	G	10: 53,919,187	Y657H	probably damaging	Het
Marf1	G	A	16: 14,111,727	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,683,818	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,525,669	N881I	probably damaging	Het
Nox3	T	C	17: 3,682,961	Y225C	probably benign	Het
Nrp1	C	T	8: 128,500,608		probably benign	Het
Olfr1080	A	G	2: 86,553,632	F164S	probably damaging	Het
Olfr1214	C	T	2: 88,987,349	M284I	probably benign	Het
Olfr1260	C	T	2: 89,978,507	T243I	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr742	T	A	14: 50,516,139	*312K	probably null	Het
Pcdhb13	A	T	18: 37,444,257	M563L	probably benign	Het
Pclo	C	T	5: 14,540,479	T931M	unknown	Het
Peli2	C	T	14: 48,121,202	P16S	possibly damaging	Het
Pfas	G	T	11: 68,990,467	R1025S	probably benign	Het
Pik3c2a	A	T	7: 116,354,072	I1196N	probably damaging	Het
Pmfbp1	A	T	8: 109,535,985		probably benign	Het
Prg4	T	C	1: 150,456,086	T279A	possibly damaging	Het
Psma1	A	T	7: 114,267,205		probably benign	Het
Rab11fip1	A	G	8: 27,153,121	L550P	probably damaging	Het
Rgs12	T	A	5: 34,965,320	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,399,231	H195R	probably damaging	Het
Rnf17	T	C	14: 56,471,373	L750P	probably damaging	Het
Rtcb	T	C	10: 85,957,656	N18D	probably benign	Het
Seh1l	T	C	18: 67,792,016		probably null	Het
Sis	T	G	3: 72,932,094	N813T	probably benign	Het
Sptbn2	T	C	19: 4,745,377		probably benign	Het
Stag3	C	T	5: 138,283,023		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Taok3	C	T	5: 117,272,229	Q829*	probably null	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Ttn	A	G	2: 76,951,542		probably benign	Het
Unc79	A	G	12: 103,125,681	E1756G	probably damaging	Het
Usp35	A	T	7: 97,313,597		probably null	Het
Vmn2r111	A	G	17: 22,548,009	F836L	probably benign	Het
Vmn2r77	A	G	7: 86,801,938	D344G	possibly damaging	Het
Zbtb40	A	G	4: 136,987,278	C1067R	probably damaging	Het

Other mutations in Actl7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Actl7a	APN	4	56743944	missense	possibly damaging	0.86
IGL01767:Actl7a	APN	4	56743980	missense	probably damaging	1.00
IGL02626:Actl7a	APN	4	56744353	missense	possibly damaging	0.89
R0046:Actl7a	UTSW	4	56743877	nonsense	probably null
R1741:Actl7a	UTSW	4	56744252	missense	probably benign	0.03
R1920:Actl7a	UTSW	4	56744135	missense	probably damaging	1.00
R2984:Actl7a	UTSW	4	56744531	missense	probably benign	0.00
R3716:Actl7a	UTSW	4	56744295	missense	possibly damaging	0.67
R4779:Actl7a	UTSW	4	56743632	missense	probably benign	0.07
R5391:Actl7a	UTSW	4	56743661	missense	probably benign
R5540:Actl7a	UTSW	4	56744388	missense	probably benign	0.00
R5723:Actl7a	UTSW	4	56744310	missense	probably damaging	0.99
R5902:Actl7a	UTSW	4	56743827	missense	probably damaging	1.00
R5903:Actl7a	UTSW	4	56743827	missense	probably damaging	1.00
R5922:Actl7a	UTSW	4	56743827	missense	probably damaging	1.00
R6010:Actl7a	UTSW	4	56743870	missense	possibly damaging	0.50
R6786:Actl7a	UTSW	4	56744116	nonsense	probably null
R7168:Actl7a	UTSW	4	56743769	missense	probably benign
R7568:Actl7a	UTSW	4	56744498	missense	probably damaging	1.00
R8230:Actl7a	UTSW	4	56743768	missense	probably damaging	1.00
R8305:Actl7a	UTSW	4	56743744	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