Mutagenetix > Incidental Mutation

Incidental Mutation 'R8452:Actl7b'

654795

Institutional Source

Beutler Lab

Gene Symbol

Actl7b

Ensembl Gene

ENSMUSG00000070980

Gene Name

actin-like 7b

Synonyms

ENSMUSG00000070980, Tact1, t-actin 1

MMRRC Submission

067903-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8452 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56740005-56741425 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56740251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 369 (D369V)

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: D369V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092693
Gene: ENSMUSG00000070980
AA Change: D369V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000181745

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (50/51)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,561,188 (GRCm39)	T158M	probably benign	Het
Apc	A	G	18: 34,445,804 (GRCm39)	D900G	possibly damaging	Het
Bola1	G	A	3: 96,104,573 (GRCm39)	A7V	probably benign	Het
Bud13	A	G	9: 46,199,377 (GRCm39)	N246S	possibly damaging	Het
Cdkal1	G	A	13: 29,538,663 (GRCm39)	P499S	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cenpp	A	G	13: 49,683,887 (GRCm39)		probably null	Het
Cntnap5c	C	T	17: 58,362,687 (GRCm39)	R347W	probably damaging	Het
Cox8b	T	A	7: 140,478,929 (GRCm39)	E62V	probably null	Het
Cyp2t4	G	A	7: 26,857,162 (GRCm39)	A342T	probably benign	Het
Cyp8b1	A	G	9: 121,744,997 (GRCm39)	Y112H	probably damaging	Het
Dlg5	G	T	14: 24,241,261 (GRCm39)	A212D	probably damaging	Het
Dnah7a	T	C	1: 53,466,986 (GRCm39)	E3626G	probably null	Het
Dpys	T	C	15: 39,656,720 (GRCm39)	E449G	possibly damaging	Het
Fam187a	C	A	11: 102,777,400 (GRCm39)	C401*	probably null	Het
Fsip2	A	T	2: 82,814,937 (GRCm39)	I3557L	probably benign	Het
Gm30083	C	T	14: 33,712,279 (GRCm39)		probably null	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
H2bc7	A	G	13: 23,758,219 (GRCm39)	V49A	probably damaging	Het
Ifi213	T	C	1: 173,422,835 (GRCm39)	K10R	possibly damaging	Het
Morc2b	T	C	17: 33,356,476 (GRCm39)	D432G	probably damaging	Het
Mrgpra4	T	A	7: 47,631,425 (GRCm39)	I59F	probably damaging	Het
Mttp	A	T	3: 137,818,374 (GRCm39)	D361E	probably damaging	Het
Mysm1	A	G	4: 94,863,510 (GRCm39)	S28P	probably damaging	Het
Nrdc	T	A	4: 108,876,260 (GRCm39)	V284D	probably damaging	Het
Nrip2	A	T	6: 128,384,957 (GRCm39)	D203V	probably damaging	Het
Oog4	A	T	4: 143,164,047 (GRCm39)	Y495N	probably benign	Het
Or52h1	A	T	7: 103,829,103 (GRCm39)	C171S	probably damaging	Het
Or52n4	A	T	7: 104,293,736 (GRCm39)	V281E	possibly damaging	Het
Or7g19	T	A	9: 18,856,459 (GRCm39)	L172M	possibly damaging	Het
Or8c11	A	T	9: 38,289,647 (GRCm39)	M151L	probably benign	Het
Pacrg	T	A	17: 10,795,523 (GRCm39)	R146*	probably null	Het
Pcdh18	A	T	3: 49,699,624 (GRCm39)	M946K	possibly damaging	Het
Pign	A	G	1: 105,575,917 (GRCm39)	I241T	probably benign	Het
Pik3cg	A	G	12: 32,243,639 (GRCm39)	I944T	probably damaging	Het
Ppp2r5c	T	A	12: 110,510,511 (GRCm39)	F99L	probably benign	Het
Prex1	A	T	2: 166,431,493 (GRCm39)	N756K	probably benign	Het
Prex2	A	T	1: 11,355,363 (GRCm39)	M1555L	probably benign	Het
Prex2	T	G	1: 11,355,364 (GRCm39)	M1555R	probably benign	Het
Prl3c1	T	A	13: 27,386,385 (GRCm39)	D123E	probably benign	Het
Prr22	G	A	17: 57,078,311 (GRCm39)	G155R	probably damaging	Het
Rev3l	A	G	10: 39,698,899 (GRCm39)	D1132G	probably damaging	Het
Rnf180	A	T	13: 105,318,056 (GRCm39)	F452Y	probably damaging	Het
Scn4b	A	T	9: 45,058,039 (GRCm39)	I44F	possibly damaging	Het
Selenon	A	T	4: 134,275,398 (GRCm39)		probably null	Het
Sirpb1b	T	A	3: 15,607,410 (GRCm39)	I291L	probably benign	Het
Slc12a9	C	A	5: 137,313,737 (GRCm39)	V741L	probably benign	Het
Tbc1d8	G	T	1: 39,444,438 (GRCm39)	R174S	probably damaging	Het
Tenm2	A	G	11: 35,914,428 (GRCm39)	F2370L	probably damaging	Het
Tfec	T	A	6: 16,844,202 (GRCm39)	H115L	probably damaging	Het
Tnxb	A	T	17: 34,908,381 (GRCm39)	T1345S	probably damaging	Het
Ttn	T	A	2: 76,568,831 (GRCm39)	N27354I	probably damaging	Het
Unc13c	A	G	9: 73,838,290 (GRCm39)	Y854H	probably damaging	Het
Utrn	A	T	10: 12,689,253 (GRCm39)	W11R	probably benign	Het
Vmn2r26	A	G	6: 124,016,577 (GRCm39)	Q347R	probably benign	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
R8025:Actl7b	UTSW	4	56,741,137 (GRCm39)	missense	probably damaging	1.00
R8352:Actl7b	UTSW	4	56,740,251 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCTGTAAAGGTATAGAGTGGCCC -3'
(R):5'- CTGCTCTGAGATGCTCTTCAAG -3'

Sequencing Primer
(F):5'- AGGGGCCTCTGCTCTCCAG -3'
(R):5'- TTCAAGCCCTCCCTGGTGG -3'

Posted On

2020-10-20