Incidental Mutation 'IGL02252:Actl7b'
ID286474
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 #IGL02252
Quality Score
Status
Chromosome4
Chromosomal Location56740005-56741443 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 56741205 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 51 (I51N)
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: I51N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092693
Gene: ENSMUSG00000070980
AA Change: I51N

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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,614,334 probably benign Het
Adamts12 A G 15: 11,311,015 I1119M probably benign Het
Apol10a T A 15: 77,488,470 V102D probably benign Het
Atrx T C X: 105,845,823 E1628G possibly damaging Het
Btnl2 C T 17: 34,365,390 S429F possibly damaging Het
C4bp C A 1: 130,636,787 D387Y probably damaging Het
Crybg3 G T 16: 59,552,524 probably benign Het
Dcaf12 G T 4: 41,294,085 H351N probably benign Het
Fign A G 2: 63,980,639 S96P probably benign Het
Ggt5 A G 10: 75,602,732 I96V possibly damaging Het
Gm11639 C A 11: 104,753,927 R1114S possibly damaging Het
Gm3238 A G 10: 77,770,857 probably benign Het
Gm4792 G T 10: 94,295,240 P69Q unknown Het
Gm5155 G T 7: 17,910,532 V525F possibly damaging Het
Ighv1-58 A T 12: 115,312,277 N80K possibly damaging Het
Ikbkap G T 4: 56,759,813 Q1151K probably benign Het
Irgm1 C T 11: 48,866,154 G277S possibly damaging Het
Jsrp1 A G 10: 80,808,873 V233A probably benign Het
Kcp T A 6: 29,504,549 R85W probably damaging Het
Kif14 T C 1: 136,478,392 Y565H probably damaging Het
Klk1b4 G A 7: 44,210,670 W69* probably null Het
Knl1 A T 2: 119,072,540 Q1574L probably damaging Het
Lao1 A G 4: 118,967,416 N232D probably benign Het
Lipn A G 19: 34,071,757 I108V probably benign Het
Lrrc49 T A 9: 60,687,859 M1L probably benign Het
Matn2 G T 15: 34,316,590 R26L probably damaging Het
Mmp16 G A 4: 18,110,523 D440N probably damaging Het
Mn1 G A 5: 111,421,241 A1026T probably damaging Het
Mrgpra1 A T 7: 47,335,164 F256I probably benign Het
Msantd3 A C 4: 48,560,869 E148D probably benign Het
Mylk3 G T 8: 85,355,476 L361I probably benign Het
Nlrp12 A G 7: 3,245,350 S117P probably benign Het
Nsmaf T C 4: 6,398,378 E870G probably benign Het
Olfr469 C A 7: 107,823,146 A108S probably benign Het
Olfr854 T A 9: 19,566,971 I138F probably damaging Het
Oplah T C 15: 76,304,764 T320A probably damaging Het
Pard3 T G 8: 127,398,756 S729A probably benign Het
Pdzd9 T C 7: 120,663,015 I75V probably benign Het
Pgf A G 12: 85,169,425 probably benign Het
Phf1 T A 17: 26,935,135 V140D possibly damaging Het
Pkd1l3 T C 8: 109,631,076 S775P possibly damaging Het
Rhobtb1 A T 10: 69,249,685 T85S probably damaging Het
Sez6 T A 11: 77,974,513 Y659N probably damaging Het
Sfmbt1 T C 14: 30,817,733 L826P probably damaging Het
Sftpd T A 14: 41,172,514 D316V probably damaging Het
Shc2 T C 10: 79,626,370 D313G probably benign Het
Snrk T C 9: 122,157,260 Y232H probably damaging Het
Sntg1 G T 1: 8,414,228 P456Q probably benign Het
Sorbs1 A T 19: 40,314,397 N783K probably damaging Het
Stag3 A T 5: 138,302,548 I923F probably damaging Het
Tep1 T A 14: 50,830,255 H2168L possibly damaging Het
Tmem132c A T 5: 127,462,927 N339I possibly damaging Het
Trim34b A G 7: 104,329,932 T129A probably damaging Het
Ttc21a T C 9: 119,956,928 L664P probably damaging Het
Ubl5 C T 9: 20,645,627 R56* probably null Het
Ubox5 G A 2: 130,599,787 R327W probably damaging Het
Ubr5 G T 15: 38,024,894 A546E probably damaging Het
Umodl1 T C 17: 30,994,815 probably null Het
Unc45a T C 7: 80,332,969 probably benign Het
Vmn1r236 C T 17: 21,286,839 T73I probably benign Het
Vmn2r67 T G 7: 85,155,800 N35H probably benign Het
Vmn2r74 A G 7: 85,957,323 Y272H probably benign Het
Wdr43 T A 17: 71,626,850 D147E probably damaging Het
Zfp352 A T 4: 90,224,130 D169V probably benign Het
Zim1 A T 7: 6,688,628 N15K unknown Het
Other mutations in Actl7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Actl7b APN 4 56740677 missense probably damaging 1.00
IGL02927:Actl7b APN 4 56740609 missense probably damaging 1.00
IGL03370:Actl7b APN 4 56741173 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
R7604:Actl7b UTSW 4 56740693 missense probably benign
R8025:Actl7b UTSW 4 56741137 missense probably damaging 1.00
R8352:Actl7b UTSW 4 56740251 missense probably damaging 0.99
Posted On2015-04-16