Incidental Mutation 'R2984:Actl7a'
ID 257763
Institutional Source Beutler Lab
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 # R2984 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 56743422-56744925 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56744531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 353 (I353V)
Ref Sequence ENSEMBL: ENSMUSP00000092692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095079] [ENSMUST00000095080] [ENSMUST00000181745]
AlphaFold Q9QY84
Predicted Effect probably benign
Transcript: ENSMUST00000095079
AA Change: I353V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000092692
Gene: ENSMUSG00000070979
AA Change: I353V

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: 99.4%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.8%
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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Csmd1 C A 8: 16,003,782 (GRCm39) G2591C probably damaging Het
Lnx1 A T 5: 74,846,083 (GRCm39) C122* probably null Het
Lrp2 A T 2: 69,256,158 (GRCm39) probably null Het
Ncf4 A G 15: 78,146,520 (GRCm39) K317E probably benign Het
Or4d2 C T 11: 87,784,572 (GRCm39) M59I possibly damaging Het
Pafah2 A G 4: 134,139,182 (GRCm39) E196G possibly damaging Het
Pkhd1 T C 1: 20,293,185 (GRCm39) N2812D possibly damaging Het
Sf3a3 A T 4: 124,612,202 (GRCm39) K153M probably damaging Het
Tex2 C A 11: 106,437,489 (GRCm39) probably null Het
Tnxb C T 17: 34,897,636 (GRCm39) Q804* probably null Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- AATCCCTGCCCCTGAACATG -3'
(R):5'- ATGTTCCTCGTACTCCAGGC -3'

Sequencing Primer
(F):5'- GAGATCCATTATACCCTGCCTGATGG -3'
(R):5'- CACAGTGGTTGAAAGCCCTG -3'
Posted On 2015-01-11