Mutagenetix > Incidental Mutation

Incidental Mutation 'R8025:Actl7b'

617635

Institutional Source

Beutler Lab

Gene Symbol

Actl7b

Ensembl Gene

ENSMUSG00000070980

Gene Name

actin-like 7b

Synonyms

ENSMUSG00000070980, Tact1, t-actin 1

MMRRC Submission

067464-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8025 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56740005-56741425 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56741137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 74 (T74A)

Ref Sequence

ENSEMBL: ENSMUSP00000092693 (fasta)

Gene Model

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

AlphaFold

Q9QY83

Predicted Effect

probably benign
Transcript: ENSMUST00000095079

SMART Domains

Protein: ENSMUSP00000092692
Gene: ENSMUSG00000070979

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 damaging
Transcript: ENSMUST00000095080
AA Change: T74A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092693
Gene: ENSMUSG00000070980
AA Change: T74A

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

Predicted Effect

silent
Transcript: ENSMUST00000181745

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (61/61)

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 (ACTL7B), and related gene, ACTL7A, 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 ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	T	G	3: 79,536,635 (GRCm39)	L51R	probably damaging	Het
Aip	C	A	19: 4,165,346 (GRCm39)	A207S	probably benign	Het
AL732309.1	A	G	2: 25,136,331 (GRCm39)		probably benign	Het
Apcdd1	G	T	18: 63,069,979 (GRCm39)	C82F	probably damaging	Het
Arhgap42	T	G	9: 9,005,823 (GRCm39)	I736L	probably benign	Het
Baz1a	A	T	12: 54,955,921 (GRCm39)	I1056N	probably benign	Het
Bzw2	T	C	12: 36,157,517 (GRCm39)	E316G	probably damaging	Het
Carns1	A	T	19: 4,216,505 (GRCm39)	I559N	probably damaging	Het
Chrnb2	A	T	3: 89,668,649 (GRCm39)	V222E	probably damaging	Het
Cngb3	A	T	4: 19,280,960 (GRCm39)	N10Y	possibly damaging	Het
Dennd1b	A	G	1: 139,038,158 (GRCm39)	K267E		Het
Dhx32	A	G	7: 133,323,100 (GRCm39)	Y705H	probably damaging	Het
Dnah7c	G	A	1: 46,496,456 (GRCm39)	V114I	probably benign	Het
Dnah8	T	A	17: 30,960,311 (GRCm39)	C2229*	probably null	Het
Dync2i2	T	C	2: 29,938,730 (GRCm39)	Q51R	probably benign	Het
Gm14401	T	C	2: 176,778,249 (GRCm39)	F112L	probably damaging	Het
Gm57858	C	A	3: 36,073,136 (GRCm39)	R382L	probably damaging	Het
Habp4	G	A	13: 64,322,645 (GRCm39)	R238H	probably benign	Het
Herpud1	A	G	8: 95,119,149 (GRCm39)	Y301C	probably damaging	Het
Itih5	G	A	2: 10,245,833 (GRCm39)	A641T	probably benign	Het
Kcns3	A	T	12: 11,141,846 (GRCm39)	N284K	probably damaging	Het
Mcrs1	G	A	15: 99,144,814 (GRCm39)	Q267*	probably null	Het
Midn	G	A	10: 79,991,126 (GRCm39)	A379T	probably benign	Het
Muc21	GTGCTGGATTCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAGCCACTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA	GTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA	17: 35,931,879 (GRCm39)		probably benign	Het
Odad2	A	T	18: 7,127,224 (GRCm39)	N996K	probably benign	Het
Or2d36	A	G	7: 106,746,930 (GRCm39)	M136V	possibly damaging	Het
Or4d2b	A	T	11: 87,779,777 (GRCm39)		probably null	Het
Or51f5	T	C	7: 102,424,463 (GRCm39)	V244A	probably benign	Het
Or5m11	A	T	2: 85,781,856 (GRCm39)	I150F	probably benign	Het
Or7e175	T	C	9: 20,048,928 (GRCm39)	V172A	probably benign	Het
Parpbp	T	C	10: 87,928,970 (GRCm39)	D490G	probably benign	Het
Pcbp2	T	A	15: 102,396,711 (GRCm39)	S262R	probably benign	Het
Pcdhgc5	T	C	18: 37,953,992 (GRCm39)	I422T	possibly damaging	Het
Pcsk5	T	A	19: 17,538,415 (GRCm39)		probably benign	Het
Plxna1	G	A	6: 89,308,254 (GRCm39)	R1278W	probably damaging	Het
Polr1c	A	G	17: 46,555,974 (GRCm39)	L162P	probably damaging	Het
Rasl2-9	A	G	7: 5,128,481 (GRCm39)	S150P	probably damaging	Het
Raver2	C	A	4: 100,960,162 (GRCm39)	S214*	probably null	Het
Rbpjl	C	A	2: 164,252,166 (GRCm39)		probably benign	Het
Rec114	T	G	9: 58,567,605 (GRCm39)	E127A	possibly damaging	Het
Recql5	C	A	11: 115,818,938 (GRCm39)	L209F	probably damaging	Het
Rgs11	T	C	17: 26,423,359 (GRCm39)		probably null	Het
Rgs3	C	A	4: 62,608,831 (GRCm39)	H366N	probably damaging	Het
Rnf148	C	T	6: 23,654,196 (GRCm39)	D267N	possibly damaging	Het
Scn1a	T	C	2: 66,148,557 (GRCm39)	N1007S	probably benign	Het
Sdcbp	A	G	4: 6,393,022 (GRCm39)	T220A	probably benign	Het
Sema5a	A	G	15: 32,548,928 (GRCm39)	N134S	probably benign	Het
Smg1	G	A	7: 117,806,212 (GRCm39)	Q210*	probably null	Het
Snx7	A	G	3: 117,626,526 (GRCm39)	V328A	probably benign	Het
Sult1c2	A	T	17: 54,138,837 (GRCm39)	S247T	probably benign	Het
Tceanc2	C	T	4: 106,996,997 (GRCm39)		probably null	Het
Tead3	T	C	17: 28,554,009 (GRCm39)	D141G	probably benign	Het
Tlcd5	T	A	9: 43,022,848 (GRCm39)	T169S	probably benign	Het
Ube3b	T	C	5: 114,546,270 (GRCm39)	M692T	probably damaging	Het
Vmn1r188	T	C	13: 22,272,084 (GRCm39)	F13L	probably benign	Het
Vmn2r3	A	G	3: 64,182,871 (GRCm39)	V276A	possibly damaging	Het
Vmn2r57	A	G	7: 41,076,183 (GRCm39)	I443T	probably benign	Het
Vps33a	T	C	5: 123,696,738 (GRCm39)	N305S	possibly damaging	Het
Vps33b	A	T	7: 79,940,094 (GRCm39)		probably benign	Het
Wdr72	T	A	9: 74,050,781 (GRCm39)	M91K	probably benign	Het
Xylb	T	C	9: 119,210,569 (GRCm39)	F351L	probably damaging	Het
Zan	C	T	5: 137,404,614 (GRCm39)	D3883N	unknown	Het
Zfp82	T	A	7: 29,756,278 (GRCm39)	H268L	probably damaging	Het

Other mutations in Actl7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01514:Actl7b	APN	4	56,740,677 (GRCm39)	missense	probably damaging	1.00
IGL02252:Actl7b	APN	4	56,741,205 (GRCm39)	missense	probably damaging	0.97
IGL02927:Actl7b	APN	4	56,740,609 (GRCm39)	missense	probably damaging	1.00
IGL03370:Actl7b	APN	4	56,741,173 (GRCm39)	missense	probably damaging	1.00
R0294:Actl7b	UTSW	4	56,740,848 (GRCm39)	missense	possibly damaging	0.83
R1711:Actl7b	UTSW	4	56,740,165 (GRCm39)	nonsense	probably null
R4773:Actl7b	UTSW	4	56,740,972 (GRCm39)	missense	probably benign
R6110:Actl7b	UTSW	4	56,740,224 (GRCm39)	missense	probably damaging	1.00
R6423:Actl7b	UTSW	4	56,741,213 (GRCm39)	missense	probably benign	0.03
R7039:Actl7b	UTSW	4	56,741,022 (GRCm39)	missense	probably damaging	0.98
R7250:Actl7b	UTSW	4	56,741,035 (GRCm39)	missense	probably benign	0.00
R7604:Actl7b	UTSW	4	56,740,693 (GRCm39)	missense	probably benign
R8352:Actl7b	UTSW	4	56,740,251 (GRCm39)	missense	probably damaging	0.99
R8452:Actl7b	UTSW	4	56,740,251 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCGGTGTGGAAGATGTACTC -3'
(R):5'- TTCTTCCCAGGAGCTCTAGG -3'

Sequencing Primer
(F):5'- GGAAGATGTACTCCCAGATGTTC -3'
(R):5'- CTTCCCAGGAGCTCTAGGGTATG -3'

Posted On

2020-01-23