Incidental Mutation 'IGL03370:Actl7b'
ID420265
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actl7b
Ensembl Gene ENSMUSG00000070980
Gene Nameactin-like 7b
SynonymsENSMUSG00000070980, Tact1, t-actin 1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03370
Quality Score
Status
Chromosome4
Chromosomal Location56740005-56741443 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56741173 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 62 (Y62H)
Ref Sequence ENSEMBL: ENSMUSP00000092693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095079] [ENSMUST00000095080] [ENSMUST00000181745]
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: Y62H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092693
Gene: ENSMUSG00000070980
AA Change: Y62H

DomainStartEndE-ValueType
ACTIN 51 418 1.6e-117 SMART
Predicted Effect silent
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cfap52 A G 11: 67,939,055 I296T probably damaging Het
Col14a1 A G 15: 55,488,541 probably null Het
Daam2 G T 17: 49,486,501 D329E probably benign Het
Defb26 A G 2: 152,507,982 V126A probably benign Het
Fasn A T 11: 120,812,795 I1535N possibly damaging Het
Fbxw15 A T 9: 109,555,151 Y431N probably benign Het
Fbxw26 T G 9: 109,746,019 I13L probably damaging Het
Fggy A T 4: 95,822,064 H300L probably damaging Het
Fndc3c1 G A X: 106,420,701 T1277I probably benign Het
Gigyf1 G T 5: 137,525,690 V1041L possibly damaging Het
Kif26b G A 1: 178,915,381 R567H probably benign Het
Kpna6 G A 4: 129,655,521 T156M probably damaging Het
Lrrc37a C T 11: 103,497,673 E2309K unknown Het
Lyn T C 4: 3,780,931 Y357H possibly damaging Het
Mki67 A G 7: 135,695,490 V2605A probably benign Het
Mtmr3 T C 11: 4,487,385 D1023G probably damaging Het
Muc5b G T 7: 141,864,777 R3820L probably benign Het
Mus81 A G 19: 5,484,963 probably benign Het
Nup188 A G 2: 30,340,641 Y1397C possibly damaging Het
Pgd A T 4: 149,165,228 V29D probably damaging Het
Plch2 T C 4: 154,986,914 S244G probably benign Het
Rapgef5 C A 12: 117,730,559 T372K probably damaging Het
Rb1 A G 14: 73,282,866 probably null Het
Ryr3 A T 2: 112,756,599 V2680E possibly damaging Het
Sgsm3 A C 15: 81,011,654 probably null Het
Slc38a1 C T 15: 96,579,347 V362I possibly damaging Het
Sun1 T A 5: 139,231,131 D308E probably damaging Het
Tns1 C T 1: 73,985,894 V387M probably damaging Het
Ttn C A 2: 76,751,739 G22937C probably damaging Het
Ubr1 C A 2: 120,895,160 A1258S probably benign Het
Vmn2r74 A G 7: 85,958,057 F153L probably benign Het
Other mutations in Actl7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Actl7b APN 4 56740677 missense probably damaging 1.00
IGL02252:Actl7b APN 4 56741205 missense probably damaging 0.97
IGL02927:Actl7b APN 4 56740609 missense probably damaging 1.00
R0294:Actl7b UTSW 4 56740848 missense possibly damaging 0.83
R1711:Actl7b UTSW 4 56740165 nonsense probably null
R4773:Actl7b UTSW 4 56740972 missense probably benign
R6110:Actl7b UTSW 4 56740224 missense probably damaging 1.00
R6423:Actl7b UTSW 4 56741213 missense probably benign 0.03
R7039:Actl7b UTSW 4 56741022 missense probably damaging 0.98
R7250:Actl7b UTSW 4 56741035 missense probably benign 0.00
Posted On2016-08-02