Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01767:Actl7a'

153347

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Actl7a

Ensembl Gene

ENSMUSG00000070979

Gene Name

actin-like 7a

Synonyms

Tact2, t-actin 2

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.552) question?

Stock #

IGL01767

Quality Score

Status

Chromosome

Chromosomal Location

56743422-56744925 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56743980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 169 (E169G)

Ref Sequence

ENSEMBL: ENSMUSP00000092692 (fasta)

Gene Model

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

AlphaFold

Q9QY84

Predicted Effect

probably damaging
Transcript: ENSMUST00000095079
AA Change: E169G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092692
Gene: ENSMUSG00000070979
AA Change: E169G

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

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	A	T	8: 60,960,126 (GRCm39)	D31V	probably damaging	Het
Acaca	A	T	11: 84,211,368 (GRCm39)	Y1560F	probably benign	Het
Adgrb3	A	G	1: 25,598,895 (GRCm39)	V270A	probably benign	Het
Adgre4	G	A	17: 56,104,740 (GRCm39)	V269I	probably benign	Het
Ankhd1	A	G	18: 36,781,427 (GRCm39)	T2160A	probably damaging	Het
Bltp1	T	C	3: 37,095,512 (GRCm39)	V4505A	probably benign	Het
Bnip2	T	A	9: 69,909,398 (GRCm39)		probably benign	Het
Casp16	A	G	17: 23,771,027 (GRCm39)	V126A	probably damaging	Het
Ccser1	C	A	6: 61,695,136 (GRCm39)	T157K	probably benign	Het
Cdh23	A	G	10: 60,151,503 (GRCm39)	S2459P	probably damaging	Het
Cdk5rap3	A	T	11: 96,804,291 (GRCm39)	C21S	probably damaging	Het
Chmp6	G	A	11: 119,807,812 (GRCm39)	E72K	probably benign	Het
Cldn23	T	C	8: 36,292,816 (GRCm39)	Y224C	probably damaging	Het
Cry1	C	T	10: 84,982,338 (GRCm39)	G336D	probably damaging	Het
Cyp4f17	T	A	17: 32,725,956 (GRCm39)	F30I	probably benign	Het
Dgcr8	T	A	16: 18,096,200 (GRCm39)	D496V	probably damaging	Het
Dhx9	A	G	1: 153,344,614 (GRCm39)		probably benign	Het
Dnah10	C	T	5: 124,820,801 (GRCm39)		probably benign	Het
Dock9	T	C	14: 121,860,282 (GRCm39)	E880G	possibly damaging	Het
Dscam	A	G	16: 96,456,136 (GRCm39)	V1264A	probably damaging	Het
Eno1	T	C	4: 150,331,167 (GRCm39)	Y270H	probably benign	Het
Eprs1	A	G	1: 185,117,112 (GRCm39)	D385G	probably damaging	Het
Ercc2	A	G	7: 19,124,346 (GRCm39)	Y215C	probably damaging	Het
Fscn2	A	G	11: 120,258,576 (GRCm39)	N400S	possibly damaging	Het
Fuca1	C	T	4: 135,666,512 (GRCm39)	T449I	probably benign	Het
Gm43638	T	C	5: 87,613,290 (GRCm39)	K492E	probably damaging	Het
Gm5263	T	G	1: 146,296,302 (GRCm39)		noncoding transcript	Het
Gm8122	T	C	14: 43,090,158 (GRCm39)	T111A	unknown	Het
Gtf3c2	T	A	5: 31,314,979 (GRCm39)	N923Y	probably benign	Het
Il17a	T	A	1: 20,803,864 (GRCm39)	D86E	probably benign	Het
Itgb2l	G	T	16: 96,231,775 (GRCm39)	N330K	probably benign	Het
Kcnj11	T	C	7: 45,748,489 (GRCm39)	H278R	probably benign	Het
Khdrbs2	T	A	1: 32,658,257 (GRCm39)	Y272*	probably null	Het
Kndc1	A	T	7: 139,509,959 (GRCm39)	Q1267L	probably damaging	Het
Loxhd1	T	A	18: 77,374,120 (GRCm39)	F64I	possibly damaging	Het
Lrig2	T	A	3: 104,398,861 (GRCm39)	K222N	probably benign	Het
Lrrcc1	T	A	3: 14,612,332 (GRCm39)	Y378N	probably damaging	Het
Mblac2	T	C	13: 81,898,434 (GRCm39)	L270P	probably damaging	Het
Med13	A	T	11: 86,210,609 (GRCm39)	I511N	probably benign	Het
Myo3a	A	T	2: 22,428,033 (GRCm39)	E763D	probably damaging	Het
Or1e25	T	A	11: 73,493,858 (GRCm39)	F151I	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or4a68	C	T	2: 89,270,144 (GRCm39)	V160I	probably benign	Het
Or5b97	T	A	19: 12,879,112 (GRCm39)	T11S	probably benign	Het
Or7g27	G	A	9: 19,250,598 (GRCm39)	V281I	possibly damaging	Het
Plxna4	T	A	6: 32,214,613 (GRCm39)	I623F	possibly damaging	Het
Ppp2ca	T	A	11: 52,008,882 (GRCm39)	Y127*	probably null	Het
Psg18	A	G	7: 18,087,322 (GRCm39)	V112A	possibly damaging	Het
Ptprj	A	T	2: 90,299,918 (GRCm39)	N108K	probably benign	Het
Rictor	A	G	15: 6,806,865 (GRCm39)	Y707C	probably damaging	Het
Rptn	T	C	3: 93,302,946 (GRCm39)	F93S	probably benign	Het
Rxrg	T	A	1: 167,454,884 (GRCm39)	C156S	probably damaging	Het
Slc24a4	T	C	12: 102,189,946 (GRCm39)		probably benign	Het
Slc25a27	C	T	17: 43,974,964 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,808,112 (GRCm39)	K481E	probably benign	Het
Snx19	T	C	9: 30,374,560 (GRCm39)	W940R	possibly damaging	Het
Spopfm1	T	A	3: 94,173,791 (GRCm39)	D262E	probably benign	Het
Tasor2	G	A	13: 3,626,633 (GRCm39)	P1106S	probably benign	Het
Tcf20	G	A	15: 82,740,209 (GRCm39)	P414L	probably damaging	Het
Treml2	T	C	17: 48,609,838 (GRCm39)	V90A	probably benign	Het
Uckl1	C	T	2: 181,211,327 (GRCm39)	V501M	probably damaging	Het
Unc79	C	T	12: 103,108,256 (GRCm39)	T1937I	probably damaging	Het
Vmn2r17	A	T	5: 109,567,903 (GRCm39)	I9F	probably benign	Het
Vmn2r44	T	C	7: 8,383,237 (GRCm39)	H119R	probably benign	Het
Vmn2r78	A	G	7: 86,603,643 (GRCm39)	D607G	probably benign	Het
Vps13a	C	T	19: 16,641,258 (GRCm39)	G2288D	probably damaging	Het
Znfx1	G	T	2: 166,897,643 (GRCm39)	T427N	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
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
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

Posted On

2014-02-04