Incidental Mutation 'R5902:Actl7a'
ID 456365
Institutional Source Beutler Lab
Gene Symbol Actl7a
Ensembl Gene ENSMUSG00000070979
Gene Name actin-like 7a
Synonyms Tact2, t-actin 2
MMRRC Submission 044100-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.552) question?
Stock # R5902 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 56743422-56744925 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 56743827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 118 (R118L)
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: R118L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092692
Gene: ENSMUSG00000070979
AA Change: R118L

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
Meta Mutation Damage Score 0.1408 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 92.1%
Validation Efficiency 99% (81/82)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,539,281 (GRCm39) M1V probably null Het
Abca13 T A 11: 9,247,177 (GRCm39) L2308H probably damaging Het
Abcc8 T C 7: 45,764,463 (GRCm39) T1161A probably benign Het
Acin1 T A 14: 54,901,130 (GRCm39) T659S probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Alkbh8 A G 9: 3,385,414 (GRCm39) K569E probably benign Het
Anxa3 A T 5: 96,960,712 (GRCm39) K39* probably null Het
Aoc2 A G 11: 101,220,072 (GRCm39) E659G probably damaging Het
Atg7 C T 6: 114,650,639 (GRCm39) T83M possibly damaging Het
AU022252 T C 4: 119,084,101 (GRCm39) D104G probably benign Het
Car6 T C 4: 150,271,956 (GRCm39) Y231C possibly damaging Het
Cdh10 T G 15: 18,985,341 (GRCm39) probably null Het
Cebpz A C 17: 79,233,366 (GRCm39) M787R probably benign Het
Chst2 A G 9: 95,287,662 (GRCm39) L228P probably damaging Het
Clic4 T C 4: 134,999,869 (GRCm39) K11R probably benign Het
Col6a3 C T 1: 90,729,921 (GRCm39) probably null Het
Commd7 T A 2: 153,463,737 (GRCm39) T144S probably damaging Het
Ctla2a T A 13: 61,082,834 (GRCm39) *138Y probably null Het
Dhx33 A T 11: 70,879,957 (GRCm39) V351D probably damaging Het
Dnah9 G A 11: 65,916,013 (GRCm39) T2313I probably benign Het
Dspp A T 5: 104,325,977 (GRCm39) D780V unknown Het
Dync1li1 A G 9: 114,546,929 (GRCm39) probably null Het
E2f3 C T 13: 30,169,250 (GRCm39) probably benign Het
Fan1 T C 7: 64,023,070 (GRCm39) probably null Het
Gart A G 16: 91,425,415 (GRCm39) S617P probably damaging Het
Ggcx A G 6: 72,406,979 (GRCm39) N705S possibly damaging Het
Gm4841 A T 18: 60,403,868 (GRCm39) V75E probably damaging Het
Greb1l A G 18: 10,538,302 (GRCm39) E1105G probably benign Het
Hr C A 14: 70,795,231 (GRCm39) Q288K probably benign Het
Hus1 T C 11: 8,960,669 (GRCm39) probably benign Het
Ifi47 C A 11: 48,986,213 (GRCm39) probably null Het
Irf2bp1 T C 7: 18,738,372 (GRCm39) V4A probably benign Het
Kprp C T 3: 92,731,835 (GRCm39) C405Y unknown Het
Lacc1 T C 14: 77,272,239 (GRCm39) I186V possibly damaging Het
Lifr A G 15: 7,220,231 (GRCm39) T954A probably benign Het
Lonrf2 T C 1: 38,846,174 (GRCm39) M333V probably benign Het
Mthfd1 A T 12: 76,337,826 (GRCm39) H400L probably benign Het
Myh4 A G 11: 67,141,733 (GRCm39) K864R possibly damaging Het
Nup50 C T 15: 84,819,641 (GRCm39) A305V probably benign Het
Or4a74 T A 2: 89,439,595 (GRCm39) I284L probably damaging Het
Or4k44 C T 2: 111,367,739 (GRCm39) M298I probably benign Het
Pax4 G T 6: 28,447,126 (GRCm39) Q3K probably benign Het
Pced1b T G 15: 97,282,970 (GRCm39) Y336* probably null Het
Postn C A 3: 54,279,510 (GRCm39) N329K probably benign Het
Prickle1 T C 15: 93,408,553 (GRCm39) E82G probably null Het
Prtn3 T C 10: 79,718,766 (GRCm39) Y241H probably damaging Het
Rasgrf2 A T 13: 92,068,011 (GRCm39) I260K probably damaging Het
Sh3glb1 T C 3: 144,418,431 (GRCm39) N44S possibly damaging Het
Sis A T 3: 72,867,589 (GRCm39) probably null Het
Slc4a9 A G 18: 36,662,386 (GRCm39) probably null Het
Slc4a9 A T 18: 36,664,560 (GRCm39) D406V probably damaging Het
Slc8a1 C T 17: 81,715,511 (GRCm39) G841R probably damaging Het
Smn1 C T 13: 100,263,412 (GRCm39) P60L probably benign Het
Snai1 G A 2: 167,383,930 (GRCm39) C241Y probably damaging Het
Spock3 A G 8: 63,808,336 (GRCm39) D411G unknown Het
Szt2 T A 4: 118,248,700 (GRCm39) T607S probably benign Het
Tcap A T 11: 98,274,673 (GRCm39) M1L probably benign Het
Tex29 A T 8: 11,905,723 (GRCm39) probably benign Het
Tex29 C A 8: 11,904,276 (GRCm39) probably benign Het
Tex29 C T 8: 11,904,277 (GRCm39) probably benign Het
Tln2 T C 9: 67,269,999 (GRCm39) T467A probably benign Het
Trim34a C T 7: 103,910,328 (GRCm39) Q377* probably null Het
Ube2q1 T A 3: 89,683,487 (GRCm39) L144* probably null Het
Vps13c A G 9: 67,841,729 (GRCm39) E1917G probably benign Het
Wdr19 T A 5: 65,384,482 (GRCm39) N525K probably benign Het
Wdr3 A T 3: 100,051,807 (GRCm39) probably benign Het
Wnt5b T A 6: 119,425,199 (GRCm39) H6L probably benign Het
Yju2 A G 17: 56,269,077 (GRCm39) T62A probably damaging Het
Zdbf2 T C 1: 63,345,685 (GRCm39) S1355P possibly damaging Het
Zfp11 T A 5: 129,734,976 (GRCm39) I162F probably damaging Het
Zpbp T C 11: 11,365,332 (GRCm39) T172A 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
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'- GACAGAAGACCCTGTTAAGTCAAC -3'
(R):5'- ACAGCATCTCGGCGTACTTC -3'

Sequencing Primer
(F):5'- CCCTGTTAAGTCAACTATGTCCAAGG -3'
(R):5'- CTCAGGGGTGGGTCTGAAAC -3'
Posted On 2017-02-15