Incidental Mutation 'IGL02946:Actr3b'
ID364749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actr3b
Ensembl Gene ENSMUSG00000056367
Gene NameARP3 actin-related protein 3B
SynonymsARP11, Arp3b
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.434) question?
Stock #IGL02946
Quality Score
Status
Chromosome5
Chromosomal Location25759997-25850688 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25848483 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 270 (I270T)
Ref Sequence ENSEMBL: ENSMUSP00000121629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088244] [ENSMUST00000128727]
Predicted Effect possibly damaging
Transcript: ENSMUST00000088244
AA Change: I358T

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000085578
Gene: ENSMUSG00000056367
AA Change: I358T

DomainStartEndE-ValueType
ACTIN 5 413 1.33e-178 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000128727
AA Change: I270T

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121629
Gene: ENSMUSG00000056367
AA Change: I270T

DomainStartEndE-ValueType
ACTIN 1 325 1.27e-111 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 110,028,215 probably benign Het
Adgrf2 T C 17: 42,710,493 Y480C probably damaging Het
Arhgap27 T C 11: 103,338,348 T514A probably damaging Het
BC031181 C T 18: 75,008,665 probably benign Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Ccm2 G A 11: 6,596,195 R335H probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Crabp1 T C 9: 54,764,948 F16S possibly damaging Het
Crmp1 C T 5: 37,284,080 A502V probably damaging Het
Ehhadh A T 16: 21,762,922 V440D probably damaging Het
Fam129a A T 1: 151,649,425 I194F probably damaging Het
Galnt3 T A 2: 66,095,218 I392L probably damaging Het
Gm12689 T A 4: 99,296,253 N114K unknown Het
Hspa2 A G 12: 76,405,173 T214A probably damaging Het
Itga7 T C 10: 128,934,083 I32T probably benign Het
Itgal A G 7: 127,314,368 S682G probably damaging Het
Kctd1 C T 18: 14,973,979 probably null Het
Lrp1b T A 2: 41,312,559 D439V probably damaging Het
Mdn1 A G 4: 32,734,366 K3258E probably damaging Het
Mgat4c T C 10: 102,389,253 S443P probably benign Het
Mylk G A 16: 34,921,788 G890E probably benign Het
Mylk2 T A 2: 152,919,210 L446* probably null Het
Olfr1395 T G 11: 49,148,892 F212V probably damaging Het
Pi4k2b T C 5: 52,753,207 F278L probably damaging Het
Pitpnm3 A G 11: 72,092,552 S84P probably benign Het
Plxna2 T C 1: 194,749,309 probably benign Het
Prr5l C A 2: 101,772,184 probably null Het
Ptprs T C 17: 56,424,032 T719A probably benign Het
Rasa3 T C 8: 13,598,280 H128R probably benign Het
Rhox13 A G X: 38,129,775 K205E probably damaging Het
Rif1 C A 2: 52,110,125 S1197* probably null Het
Sgta A G 10: 81,049,778 probably benign Het
Slc25a5 T A X: 36,797,853 M239K probably damaging Het
Stil T A 4: 115,029,913 H734Q probably benign Het
Stk32b T C 5: 37,531,539 probably benign Het
Ubr4 T G 4: 139,425,295 F1999C probably damaging Het
Wfdc2 A C 2: 164,564,089 T86P probably benign Het
Zfp407 T C 18: 84,560,709 S760G probably damaging Het
Zfp668 A T 7: 127,866,518 L498Q possibly damaging Het
Other mutations in Actr3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02457:Actr3b APN 5 25849162 splice site probably null
IGL02582:Actr3b APN 5 25832413 missense probably benign 0.11
IGL02869:Actr3b APN 5 25832435 missense probably damaging 1.00
R0443:Actr3b UTSW 5 25848411 missense probably damaging 0.99
R0446:Actr3b UTSW 5 25831732 missense probably damaging 0.98
R0727:Actr3b UTSW 5 25811939 missense possibly damaging 0.89
R1070:Actr3b UTSW 5 25848493 splice site probably benign
R1643:Actr3b UTSW 5 25812011 missense probably damaging 1.00
R1820:Actr3b UTSW 5 25849158 critical splice donor site probably null
R1837:Actr3b UTSW 5 25825159 missense probably benign 0.00
R1899:Actr3b UTSW 5 25829538 missense possibly damaging 0.71
R2041:Actr3b UTSW 5 25760130 critical splice donor site probably null
R2096:Actr3b UTSW 5 25831745 nonsense probably null
R2109:Actr3b UTSW 5 25831711 missense possibly damaging 0.89
R2256:Actr3b UTSW 5 25822405 missense possibly damaging 0.88
R3078:Actr3b UTSW 5 25822442 missense probably damaging 1.00
R5572:Actr3b UTSW 5 25809888 missense probably benign 0.00
R5655:Actr3b UTSW 5 25848368 missense probably damaging 1.00
R6190:Actr3b UTSW 5 25831690 missense probably benign
R6761:Actr3b UTSW 5 25825139 missense probably damaging 1.00
R7003:Actr3b UTSW 5 25798463 missense probably damaging 1.00
R7043:Actr3b UTSW 5 25849938 missense probably benign 0.40
R7649:Actr3b UTSW 5 25848366 missense probably benign 0.05
R7897:Actr3b UTSW 5 25831659 missense probably benign 0.37
R7980:Actr3b UTSW 5 25831659 missense probably benign 0.37
RF049:Actr3b UTSW 5 25848488 critical splice donor site probably benign
Posted On2015-12-18