Incidental Mutation 'R5391:Actl7a'
ID 425836
Institutional Source Beutler Lab
Gene Symbol Actl7a
Ensembl Gene ENSMUSG00000070979
Gene Name actin-like 7a
Synonyms Tact2, t-actin 2
MMRRC Submission 042963-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.594) question?
Stock # R5391 (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 56743661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 63 (T63A)
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: T63A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092692
Gene: ENSMUSG00000070979
AA Change: T63A

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b G A 5: 8,855,481 (GRCm39) M38I probably null Het
Amfr G A 8: 94,702,676 (GRCm39) P497S probably damaging Het
Ankrd33b T C 15: 31,325,352 (GRCm39) I122V probably damaging Het
Asap1 G T 15: 63,965,901 (GRCm39) T1011K possibly damaging Het
Cbfa2t3 G A 8: 123,360,134 (GRCm39) R506* probably null Het
Ccs C G 19: 4,883,510 (GRCm39) C96S probably benign Het
Cpt1a A G 19: 3,399,260 (GRCm39) D20G probably damaging Het
Ctdspl2 G A 2: 121,834,629 (GRCm39) probably null Het
Dhx57 T C 17: 80,582,510 (GRCm39) Y365C probably damaging Het
Dnah3 C T 7: 119,689,299 (GRCm39) M38I probably benign Het
Dnajc6 T C 4: 101,485,355 (GRCm39) probably null Het
Elac2 A G 11: 64,885,120 (GRCm39) S450G probably benign Het
Gdf9 T C 11: 53,324,624 (GRCm39) V131A probably benign Het
Il12rb2 T C 6: 67,269,404 (GRCm39) N803S probably benign Het
Itgb4 T A 11: 115,875,894 (GRCm39) M477K probably benign Het
Itgb8 A C 12: 119,134,476 (GRCm39) C530W probably damaging Het
Krt78 C A 15: 101,860,263 (GRCm39) E218* probably null Het
Lpar1 A G 4: 58,486,902 (GRCm39) L105P probably damaging Het
Megf8 G A 7: 25,039,714 (GRCm39) G936D possibly damaging Het
Mov10 G A 3: 104,709,849 (GRCm39) H346Y probably benign Het
Nfia A G 4: 97,671,538 (GRCm39) I83V probably damaging Het
Or5b101 G T 19: 13,005,150 (GRCm39) A181E probably damaging Het
Or6d15 T C 6: 116,559,808 (GRCm39) Y33C probably damaging Het
Pcdhgb6 T G 18: 37,875,640 (GRCm39) I116S probably damaging Het
Pdcd6ip G T 9: 113,520,586 (GRCm39) Q133K probably damaging Het
Phkb A G 8: 86,744,097 (GRCm39) D582G probably damaging Het
Pik3cd A T 4: 149,743,588 (GRCm39) V207E probably damaging Het
Ptov1 T C 7: 44,513,008 (GRCm39) Q397R probably damaging Het
Rangap1 A G 15: 81,590,647 (GRCm39) F482L probably benign Het
Rapgef1 T A 2: 29,627,977 (GRCm39) N1052K probably damaging Het
Rasl12 G T 9: 65,305,949 (GRCm39) A35S probably damaging Het
Rnf169 A T 7: 99,584,367 (GRCm39) probably null Het
Sec16a A G 2: 26,330,044 (GRCm39) V657A possibly damaging Het
Sin3a G A 9: 57,012,957 (GRCm39) R612H probably damaging Het
Six6 T A 12: 72,988,475 (GRCm39) L216* probably null Het
Tbce T C 13: 14,180,550 (GRCm39) I293M probably damaging Het
Tektl1 G A 10: 78,588,688 (GRCm39) Q41* probably null Het
Tmem176a T C 6: 48,821,630 (GRCm39) L204P probably damaging Het
Tmem87a A G 2: 120,193,358 (GRCm39) probably null Het
Tns1 A T 1: 74,029,568 (GRCm39) probably null Het
Usf3 T A 16: 44,037,826 (GRCm39) S769T probably benign Het
Vmn2r82 A G 10: 79,192,491 (GRCm39) T23A probably null Het
Vps26a A G 10: 62,292,526 (GRCm39) *328Q probably null Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Wwc2 A T 8: 48,316,906 (GRCm39) I729K unknown Het
Zbtb44 A G 9: 30,964,601 (GRCm39) probably null Het
Zfp800 A T 6: 28,242,992 (GRCm39) S658T probably damaging Het
Zfp825 T C 13: 74,628,665 (GRCm39) T284A possibly damaging Het
Zfp935 G T 13: 62,602,632 (GRCm39) Y189* probably null Het
Zkscan1 T A 5: 138,095,363 (GRCm39) H203Q probably benign Het
Zkscan14 T C 5: 145,132,604 (GRCm39) D309G 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
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'- CTTTCTGAGAGCAGTATGTCTCTGG -3'
(R):5'- TTAAAGAGCTCGTGCCCCAC -3'

Sequencing Primer
(F):5'- AGAGCAGTATGTCTCTGGATGGTG -3'
(R):5'- TCGTGCCCCACAAAGGTCTC -3'
Posted On 2016-08-04