Incidental Mutation 'IGL02927:Actl7b'
ID 363944
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actl7b
Ensembl Gene ENSMUSG00000070980
Gene Name actin-like 7b
Synonyms ENSMUSG00000070980, Tact1, t-actin 1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02927
Quality Score
Status
Chromosome 4
Chromosomal Location 56740005-56741425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 56740609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 250 (D250Y)
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

DomainStartEndE-ValueType
Pfam:ACTL7A_N 6 70 1.3e-39 PFAM
ACTIN 74 440 4.63e-123 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000095080
AA Change: D250Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092693
Gene: ENSMUSG00000070980
AA Change: D250Y

DomainStartEndE-ValueType
ACTIN 51 418 1.6e-117 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000181745
Coding Region Coverage
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 (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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik G A 17: 48,347,729 (GRCm39) Q192* probably null Het
Akr1a1 T A 4: 116,495,180 (GRCm39) N273I probably damaging Het
Arhgap32 T A 9: 32,172,431 (GRCm39) I1737N possibly damaging Het
Cant1 T C 11: 118,301,888 (GRCm39) D143G probably benign Het
Cast T A 13: 74,885,113 (GRCm39) D295V probably damaging Het
Cdh1 A G 8: 107,395,143 (GRCm39) N851D probably damaging Het
Cntn1 G A 15: 92,189,561 (GRCm39) R628H probably benign Het
Cul4a A G 8: 13,174,861 (GRCm39) D279G possibly damaging Het
Cyp2s1 T C 7: 25,507,577 (GRCm39) K291E probably benign Het
Dhx35 A T 2: 158,662,336 (GRCm39) I205F probably damaging Het
Dpp8 G T 9: 64,967,551 (GRCm39) R518L probably benign Het
Gm9 A G X: 36,474,207 (GRCm39) I34T possibly damaging Het
Hmcn1 A T 1: 150,453,029 (GRCm39) C5429S probably damaging Het
Iqgap2 A C 13: 95,861,184 (GRCm39) L314R possibly damaging Het
Itgav A C 2: 83,625,884 (GRCm39) Y810S probably damaging Het
Kcng4 G T 8: 120,353,061 (GRCm39) P283Q probably benign Het
Lrrn3 T A 12: 41,503,343 (GRCm39) I325F probably damaging Het
Lzts3 A G 2: 130,479,877 (GRCm39) probably benign Het
Marchf7 T C 2: 60,067,262 (GRCm39) I594T probably damaging Het
Matn2 A T 15: 34,355,801 (GRCm39) I269F probably damaging Het
Matn4 A G 2: 164,231,757 (GRCm39) F591S probably damaging Het
Mknk1 C T 4: 115,714,288 (GRCm39) R20C probably damaging Het
Mrgbp T C 2: 180,226,272 (GRCm39) V115A probably damaging Het
Mrgprb8 C T 7: 48,038,373 (GRCm39) Q15* probably null Het
Naa38 T C 11: 69,286,743 (GRCm39) L9P probably damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or13a19 T A 7: 139,902,654 (GRCm39) L14Q probably damaging Het
Or2y3 T A 17: 38,393,114 (GRCm39) M252L probably benign Het
Or9i2 G A 19: 13,816,288 (GRCm39) T83I probably benign Het
Pkd1 A G 17: 24,794,163 (GRCm39) N1950S probably damaging Het
Plagl2 A G 2: 153,074,199 (GRCm39) L234P probably damaging Het
Psmb11 C T 14: 54,863,108 (GRCm39) R109W probably damaging Het
Rcc1 C T 4: 132,065,067 (GRCm39) R139H probably benign Het
Rsbn1 A G 3: 103,869,668 (GRCm39) T710A probably benign Het
Shld2 T C 14: 33,989,658 (GRCm39) Y416C probably damaging Het
Slitrk4 A G X: 63,314,933 (GRCm39) I578T possibly damaging Het
Srgap1 T C 10: 121,691,367 (GRCm39) Y289C probably damaging Het
Stxbp2 A G 8: 3,692,685 (GRCm39) D579G possibly damaging Het
Tg T C 15: 66,549,942 (GRCm39) Y235H probably damaging Het
Thbs3 A G 3: 89,127,514 (GRCm39) N385S probably damaging Het
Trmo A G 4: 46,387,602 (GRCm39) S80P probably damaging Het
Ubc T C 5: 125,463,201 (GRCm39) K709E probably benign Het
Vstm4 C T 14: 32,659,745 (GRCm39) P296S probably damaging Het
Wdr11 G A 7: 129,208,822 (GRCm39) probably null Het
Wdr19 T C 5: 65,409,721 (GRCm39) I1153T possibly damaging Het
Xpo6 T C 7: 125,755,901 (GRCm39) E213G possibly damaging Het
Zxdc A C 6: 90,349,544 (GRCm39) T311P probably damaging Het
Other mutations in Actl7b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7604:Actl7b UTSW 4 56,740,693 (GRCm39) missense probably benign
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
Posted On 2015-12-18