Incidental Mutation 'IGL02946:Actr3b'
ID 364749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actr3b
Ensembl Gene ENSMUSG00000056367
Gene Name ARP3 actin-related protein 3B
Synonyms Arp3b, ARP11
Accession Numbers
Essential gene? Possibly essential (E-score: 0.665) question?
Stock # IGL02946
Quality Score
Status
Chromosome 5
Chromosomal Location 25964995-26055686 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26053481 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q641P0
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: 109,919,041 (GRCm39) probably benign Het
Adgrf2 T C 17: 43,021,384 (GRCm39) Y480C probably damaging Het
Arhgap27 T C 11: 103,229,174 (GRCm39) T514A probably damaging Het
BC031181 C T 18: 75,141,736 (GRCm39) probably benign Het
Cckbr C T 7: 105,083,238 (GRCm39) A147V probably damaging Het
Ccm2 G A 11: 6,546,195 (GRCm39) R335H probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Crabp1 T C 9: 54,672,232 (GRCm39) F16S possibly damaging Het
Crmp1 C T 5: 37,441,424 (GRCm39) A502V probably damaging Het
Ehhadh A T 16: 21,581,672 (GRCm39) V440D probably damaging Het
Galnt3 T A 2: 65,925,562 (GRCm39) I392L probably damaging Het
Gm12689 T A 4: 99,184,490 (GRCm39) N114K unknown Het
Hspa2 A G 12: 76,451,947 (GRCm39) T214A probably damaging Het
Itga7 T C 10: 128,769,952 (GRCm39) I32T probably benign Het
Itgal A G 7: 126,913,540 (GRCm39) S682G probably damaging Het
Kctd1 C T 18: 15,107,036 (GRCm39) probably null Het
Lrp1b T A 2: 41,202,571 (GRCm39) D439V probably damaging Het
Mdn1 A G 4: 32,734,366 (GRCm39) K3258E probably damaging Het
Mgat4c T C 10: 102,225,114 (GRCm39) S443P probably benign Het
Mylk G A 16: 34,742,158 (GRCm39) G890E probably benign Het
Mylk2 T A 2: 152,761,130 (GRCm39) L446* probably null Het
Niban1 A T 1: 151,525,176 (GRCm39) I194F probably damaging Het
Or2t26 T G 11: 49,039,719 (GRCm39) F212V probably damaging Het
Pi4k2b T C 5: 52,910,549 (GRCm39) F278L probably damaging Het
Pitpnm3 A G 11: 71,983,378 (GRCm39) S84P probably benign Het
Plxna2 T C 1: 194,431,617 (GRCm39) probably benign Het
Prr5l C A 2: 101,602,529 (GRCm39) probably null Het
Ptprs T C 17: 56,731,032 (GRCm39) T719A probably benign Het
Rasa3 T C 8: 13,648,280 (GRCm39) H128R probably benign Het
Rhox13 A G X: 37,218,652 (GRCm39) K205E probably damaging Het
Rif1 C A 2: 52,000,137 (GRCm39) S1197* probably null Het
Sgta A G 10: 80,885,612 (GRCm39) probably benign Het
Slc25a5 T A X: 36,061,506 (GRCm39) M239K probably damaging Het
Stil T A 4: 114,887,110 (GRCm39) H734Q probably benign Het
Stk32b T C 5: 37,688,883 (GRCm39) probably benign Het
Ubr4 T G 4: 139,152,606 (GRCm39) F1999C probably damaging Het
Wfdc2 A C 2: 164,406,009 (GRCm39) T86P probably benign Het
Zfp407 T C 18: 84,578,834 (GRCm39) S760G probably damaging Het
Zfp668 A T 7: 127,465,690 (GRCm39) L498Q possibly damaging Het
Other mutations in Actr3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02457:Actr3b APN 5 26,054,160 (GRCm39) splice site probably null
IGL02582:Actr3b APN 5 26,037,411 (GRCm39) missense probably benign 0.11
IGL02869:Actr3b APN 5 26,037,433 (GRCm39) missense probably damaging 1.00
R0443:Actr3b UTSW 5 26,053,409 (GRCm39) missense probably damaging 0.99
R0446:Actr3b UTSW 5 26,036,730 (GRCm39) missense probably damaging 0.98
R0727:Actr3b UTSW 5 26,016,937 (GRCm39) missense possibly damaging 0.89
R1070:Actr3b UTSW 5 26,053,491 (GRCm39) splice site probably benign
R1643:Actr3b UTSW 5 26,017,009 (GRCm39) missense probably damaging 1.00
R1820:Actr3b UTSW 5 26,054,156 (GRCm39) critical splice donor site probably null
R1837:Actr3b UTSW 5 26,030,157 (GRCm39) missense probably benign 0.00
R1899:Actr3b UTSW 5 26,034,536 (GRCm39) missense possibly damaging 0.71
R2041:Actr3b UTSW 5 25,965,128 (GRCm39) critical splice donor site probably null
R2096:Actr3b UTSW 5 26,036,743 (GRCm39) nonsense probably null
R2109:Actr3b UTSW 5 26,036,709 (GRCm39) missense possibly damaging 0.89
R2256:Actr3b UTSW 5 26,027,403 (GRCm39) missense possibly damaging 0.88
R3078:Actr3b UTSW 5 26,027,440 (GRCm39) missense probably damaging 1.00
R5572:Actr3b UTSW 5 26,014,886 (GRCm39) missense probably benign 0.00
R5655:Actr3b UTSW 5 26,053,366 (GRCm39) missense probably damaging 1.00
R6190:Actr3b UTSW 5 26,036,688 (GRCm39) missense probably benign
R6761:Actr3b UTSW 5 26,030,137 (GRCm39) missense probably damaging 1.00
R7003:Actr3b UTSW 5 26,003,461 (GRCm39) missense probably damaging 1.00
R7043:Actr3b UTSW 5 26,054,936 (GRCm39) missense probably benign 0.40
R7649:Actr3b UTSW 5 26,053,364 (GRCm39) missense probably benign 0.05
R7897:Actr3b UTSW 5 26,036,657 (GRCm39) missense probably benign 0.37
R8691:Actr3b UTSW 5 26,030,202 (GRCm39) missense possibly damaging 0.94
R9647:Actr3b UTSW 5 26,037,408 (GRCm39) missense probably benign
R9797:Actr3b UTSW 5 26,054,895 (GRCm39) missense probably benign 0.00
RF049:Actr3b UTSW 5 26,053,486 (GRCm39) critical splice donor site probably benign
Posted On 2015-12-18