Mutagenetix > Incidental Mutation

Incidental Mutation 'R7604:Actl7b'

588152

Institutional Source

Beutler Lab

Gene Symbol

Actl7b

Ensembl Gene

ENSMUSG00000070980

Gene Name

actin-like 7b

Synonyms

ENSMUSG00000070980, Tact1, t-actin 1

MMRRC Submission

045644-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7604 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56740005-56741425 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 56740693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 222 (P222A)

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 benign
Transcript: ENSMUST00000095080
AA Change: P222A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092693
Gene: ENSMUSG00000070980
AA Change: P222A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000181745

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	T	3: 146,356,415 (GRCm39)	Y164*	probably null	Het
Abce1	G	A	8: 80,426,003 (GRCm39)	T258M	probably benign	Het
Adam2	T	C	14: 66,293,990 (GRCm39)	N279S	probably benign	Het
Adamts13	A	G	2: 26,895,218 (GRCm39)	D1103G	probably benign	Het
Aff1	G	A	5: 103,995,675 (GRCm39)	S1089N	probably benign	Het
Ahcyl2	T	C	6: 29,768,555 (GRCm39)	S7P	unknown	Het
Anks1b	A	G	10: 90,096,708 (GRCm39)		probably null	Het
Azin1	A	C	15: 38,491,878 (GRCm39)	D359E	probably damaging	Het
Bahd1	A	G	2: 118,746,791 (GRCm39)	T137A	probably benign	Het
Bltp1	A	G	3: 37,003,992 (GRCm39)		probably null	Het
C1qbp	A	G	11: 70,869,598 (GRCm39)	S162P	probably damaging	Het
C1rb	A	G	6: 124,557,443 (GRCm39)	M527V	not run	Het
Ccdc88c	A	T	12: 100,896,806 (GRCm39)	D1381E	probably damaging	Het
Ccdc90b	A	G	7: 92,227,738 (GRCm39)	Y234C	probably damaging	Het
Cfap91	C	A	16: 38,118,598 (GRCm39)	E734*	probably null	Het
Cyp11b2	A	T	15: 74,725,599 (GRCm39)		probably null	Het
Dchs1	A	G	7: 105,415,189 (GRCm39)	V665A	probably damaging	Het
Dhx8	T	C	11: 101,655,623 (GRCm39)	S1119P	probably damaging	Het
Dnah6	T	C	6: 73,069,151 (GRCm39)	D2512G	probably damaging	Het
Dnah8	T	C	17: 31,032,069 (GRCm39)	Y4130H	probably damaging	Het
E4f1	G	T	17: 24,674,207 (GRCm39)	A19D	unknown	Het
Eftud2	T	C	11: 102,738,838 (GRCm39)	D517G	possibly damaging	Het
Epha6	T	A	16: 60,026,135 (GRCm39)	I436F	possibly damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Ezh1	A	G	11: 101,107,855 (GRCm39)	M74T	probably benign	Het
Galnt14	T	A	17: 73,811,916 (GRCm39)	K435M	possibly damaging	Het
Garin2	C	A	12: 78,761,788 (GRCm39)	Q151K	probably damaging	Het
Gde1	A	T	7: 118,304,759 (GRCm39)	Y39N	possibly damaging	Het
Gldn	G	A	9: 54,245,877 (GRCm39)	R476Q	probably benign	Het
Gm32742	G	T	9: 51,068,062 (GRCm39)	R307S	probably benign	Het
Gnao1	T	G	8: 94,670,972 (GRCm39)	N150K		Het
Gpr135	A	T	12: 72,116,641 (GRCm39)	D375E	possibly damaging	Het
Gria4	A	G	9: 4,464,315 (GRCm39)	M549T	probably damaging	Het
Grik3	C	A	4: 125,517,428 (GRCm39)	D90E	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Hspd1	T	C	1: 55,119,496 (GRCm39)	E327G	probably benign	Het
Kif6	T	C	17: 49,978,129 (GRCm39)	I107T	probably damaging	Het
Kmt2e	C	T	5: 23,706,763 (GRCm39)	T1442M	not run	Het
Lama3	C	T	18: 12,633,550 (GRCm39)	H1561Y	possibly damaging	Het
Lpcat3	A	G	6: 124,679,493 (GRCm39)	N331S	probably benign	Het
Lrrc63	C	A	14: 75,322,409 (GRCm39)	W565L	possibly damaging	Het
Malrd1	A	G	2: 15,930,003 (GRCm39)	N1503S	unknown	Het
Mcm7	C	T	5: 138,167,986 (GRCm39)	V38I	probably benign	Het
Mphosph9	C	T	5: 124,454,180 (GRCm39)	V106I	probably benign	Het
Mroh8	G	T	2: 157,111,484 (GRCm39)	L157I	possibly damaging	Het
Mta2	T	A	19: 8,923,200 (GRCm39)	S91T	probably damaging	Het
Muc5ac	A	T	7: 141,363,446 (GRCm39)	Q2252H	unknown	Het
Ndufs7	G	T	10: 80,089,531 (GRCm39)	V59L	probably benign	Het
Nrxn2	T	C	19: 6,581,991 (GRCm39)	L1642P	probably damaging	Het
Or8k21	G	A	2: 86,145,244 (GRCm39)	P129S	probably damaging	Het
Pbxip1	A	T	3: 89,352,902 (GRCm39)	I183L	probably benign	Het
Peak1	A	T	9: 56,148,491 (GRCm39)	L1085*	probably null	Het
Phf20l1	A	G	15: 66,475,933 (GRCm39)	T189A	probably benign	Het
Poteg	T	A	8: 27,948,683 (GRCm39)		probably null	Het
Proc	G	A	18: 32,267,831 (GRCm39)		probably null	Het
Prr36	G	A	8: 4,264,836 (GRCm39)	R277C	unknown	Het
Ptpn3	T	C	4: 57,240,845 (GRCm39)	N257D	probably damaging	Het
Rnf5	C	A	17: 34,820,638 (GRCm39)	V150L	probably benign	Het
Sbf2	T	A	7: 109,977,274 (GRCm39)	Q666L	possibly damaging	Het
Sdk2	C	T	11: 113,720,795 (GRCm39)	R1378H	possibly damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sipa1l2	A	T	8: 126,146,011 (GRCm39)	V1681E	probably benign	Het
Slc15a5	A	T	6: 138,056,784 (GRCm39)	L44Q	probably damaging	Het
Slc29a1	C	A	17: 45,903,250 (GRCm39)		probably null	Het
Slc5a8	G	T	10: 88,740,822 (GRCm39)	V246F	possibly damaging	Het
Spint2	T	C	7: 28,957,944 (GRCm39)	E154G	probably damaging	Het
Sycp1	A	T	3: 102,820,749 (GRCm39)	S413T	probably damaging	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Trio	A	T	15: 27,736,531 (GRCm39)		probably null	Het
Unc13b	A	G	4: 43,170,102 (GRCm39)	Y310C	unknown	Het
Unc13b	A	G	4: 43,256,776 (GRCm39)	T1155A	possibly damaging	Het
Vmn2r79	A	G	7: 86,652,592 (GRCm39)		probably null	Het
Xpo7	T	A	14: 70,909,110 (GRCm39)	S803C	probably damaging	Het
Zfp747l1	T	C	7: 126,985,707 (GRCm39)	T95A	unknown	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
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
R8452:Actl7b	UTSW	4	56,740,251 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGAGCATCTCAGAGCAGC -3'
(R):5'- GAAGTACGCTGAGCTCCTGTTC -3'

Sequencing Primer
(F):5'- GTAGTCCACATGCAGCTCGTCTAG -3'
(R):5'- TGAGCTCCTGTTCGAGACC -3'

Posted On

2019-10-24