Incidental Mutation 'R7568:Actl7a'
ID 585576
Institutional Source Beutler Lab
Gene Symbol Actl7a
Ensembl Gene ENSMUSG00000070979
Gene Name actin-like 7a
Synonyms Tact2, t-actin 2
MMRRC Submission 045630-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.552) question?
Stock # R7568 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 56743422-56744925 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56744498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 342 (T342S)
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: T342S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000092692
Gene: ENSMUSG00000070979
AA Change: T342S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
ACTIN 51 418 1.6e-117 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000181745
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T A 13: 111,391,956 (GRCm39) V97E possibly damaging Het
Alcam A G 16: 52,088,749 (GRCm39) S554P probably damaging Het
Ano3 T C 2: 110,780,638 (GRCm39) probably benign Het
Atad2b T A 12: 5,060,390 (GRCm39) probably null Het
Baz2a T C 10: 127,961,139 (GRCm39) S1621P possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 GGTTCTGTGGTCACT GGTTCTGTGGTCACTAGTTCTGTGGTCACT 3: 95,795,484 (GRCm39) probably benign Het
BC028528 GTCACTGGTTCTGTGGTCACTGGTTCTGTG GTCACTGGTTCTGTGATCACTGGTTCTGTGGTCACTGGTTCTGTG 3: 95,795,463 (GRCm39) probably benign Het
Best1 T A 19: 9,966,639 (GRCm39) probably null Het
Catip G T 1: 74,408,089 (GRCm39) E474* probably null Het
Comp A G 8: 70,826,509 (GRCm39) D28G probably benign Het
Crebbp G A 16: 3,944,353 (GRCm39) R600W probably benign Het
Cyfip1 A G 7: 55,521,997 (GRCm39) probably null Het
Ddr1 A G 17: 35,995,174 (GRCm39) S675P probably damaging Het
Dhtkd1 A T 2: 5,926,898 (GRCm39) probably null Het
F2rl1 G A 13: 95,650,522 (GRCm39) A120V probably damaging Het
Fam136a A G 6: 86,342,784 (GRCm39) N24D probably benign Het
Fbxw10 C A 11: 62,765,994 (GRCm39) Q755K probably benign Het
Fbxw16 C A 9: 109,268,657 (GRCm39) Q244H possibly damaging Het
Gabrg2 T C 11: 41,807,119 (GRCm39) K373E probably benign Het
Herc3 G A 6: 58,820,795 (GRCm39) V60I probably benign Het
Igkv19-93 T A 6: 68,713,477 (GRCm39) K51* probably null Het
Krt23 T A 11: 99,383,626 (GRCm39) K89* probably null Het
Mavs A G 2: 131,087,395 (GRCm39) T298A probably benign Het
Mlec T C 5: 115,288,181 (GRCm39) Y198C probably damaging Het
Ncam2 C A 16: 81,386,689 (GRCm39) N689K probably benign Het
Nfkbia A G 12: 55,538,546 (GRCm39) I82T probably damaging Het
Or12d14-ps1 A G 17: 37,673,496 (GRCm39) I163V probably benign Het
Or12j2 A G 7: 139,915,895 (GRCm39) N40S probably damaging Het
Or7a35 A T 10: 78,853,341 (GRCm39) I62F probably benign Het
Or8b43 A G 9: 38,360,942 (GRCm39) Y258C probably damaging Het
Pom121l2 A T 13: 22,166,796 (GRCm39) I356F probably benign Het
Ppip5k1 A T 2: 121,168,096 (GRCm39) L719Q probably damaging Het
Satb1 A T 17: 52,089,752 (GRCm39) V365D possibly damaging Het
Scrn2 T C 11: 96,921,712 (GRCm39) Y61H probably damaging Het
Siglec1 C T 2: 130,914,602 (GRCm39) V1505M probably damaging Het
Slc2a10 A G 2: 165,356,802 (GRCm39) N154S probably damaging Het
Slc39a10 A T 1: 46,874,290 (GRCm39) H337Q probably benign Het
Slc39a12 T A 2: 14,404,939 (GRCm39) probably null Het
Slc6a6 T G 6: 91,701,832 (GRCm39) L80R probably damaging Het
Slit1 T C 19: 41,590,074 (GRCm39) Y1404C probably damaging Het
Sowahc A G 10: 59,059,121 (GRCm39) E419G probably damaging Het
Ssh1 T C 5: 114,095,441 (GRCm39) probably null Het
Stab1 C A 14: 30,874,552 (GRCm39) C952F probably damaging Het
Stat5a T C 11: 100,765,850 (GRCm39) M312T possibly damaging Het
Tex2 A G 11: 106,439,562 (GRCm39) I606T unknown Het
Tex55 T C 16: 38,648,809 (GRCm39) E100G possibly damaging Het
Vmn1r19 A G 6: 57,381,813 (GRCm39) H122R possibly damaging Het
Zfp959 A G 17: 56,204,886 (GRCm39) I308V probably benign Het
Other mutations in Actl7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Actl7a APN 4 56,743,944 (GRCm39) missense possibly damaging 0.86
IGL01767:Actl7a APN 4 56,743,980 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CCATCTCGGTATTGTGGAGG -3'
(R):5'- AGTCCAGACTGCAGTGTCTC -3'

Sequencing Primer
(F):5'- ATCAAGACGAGGTGCTGCTTC -3'
(R):5'- AGACTGCAGTGTCTCTCTCGG -3'
Posted On 2019-10-17