Incidental Mutation 'IGL01517:Arpc1b'
ID90452
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arpc1b
Ensembl Gene ENSMUSG00000029622
Gene Nameactin related protein 2/3 complex, subunit 1B
SynonymsSOP2Hs, L72, p41-ARC
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01517
Quality Score
Status
Chromosome5
Chromosomal Location145114215-145130705 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) A to G at 145127869 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031627] [ENSMUST00000085679] [ENSMUST00000136074] [ENSMUST00000196111]
Predicted Effect probably benign
Transcript: ENSMUST00000031627
SMART Domains Protein: ENSMUSP00000031627
Gene: ENSMUSG00000029623

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
low complexity region 28 47 N/A INTRINSIC
low complexity region 52 69 N/A INTRINSIC
Pfam:PP28 84 163 3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085679
SMART Domains Protein: ENSMUSP00000082822
Gene: ENSMUSG00000029622

DomainStartEndE-ValueType
Blast:WD40 1 36 4e-14 BLAST
WD40 41 80 1.21e-7 SMART
WD40 85 124 1.54e0 SMART
WD40 130 170 1.56e-1 SMART
WD40 191 230 7.7e-1 SMART
Blast:WD40 233 271 9e-18 BLAST
WD40 317 358 3.55e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128229
Predicted Effect probably benign
Transcript: ENSMUST00000136074
SMART Domains Protein: ENSMUSP00000115022
Gene: ENSMUSG00000029622

DomainStartEndE-ValueType
Pfam:WD40 3 29 2.5e-3 PFAM
WD40 77 121 1.79e-1 SMART
WD40 142 181 7.7e-1 SMART
Blast:WD40 184 222 1e-18 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138235
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138900
Predicted Effect probably benign
Transcript: ENSMUST00000138922
SMART Domains Protein: ENSMUSP00000115515
Gene: ENSMUSG00000029622

DomainStartEndE-ValueType
PDB:2P9U|C 2 93 4e-43 PDB
SCOP:d1k8kc_ 35 93 2e-11 SMART
Blast:WD40 50 87 3e-20 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144375
Predicted Effect probably benign
Transcript: ENSMUST00000196111
SMART Domains Protein: ENSMUSP00000143438
Gene: ENSMUSG00000029622

DomainStartEndE-ValueType
Blast:WD40 1 36 4e-14 BLAST
WD40 41 80 1.21e-7 SMART
WD40 85 124 1.54e0 SMART
WD40 130 170 1.56e-1 SMART
WD40 191 230 7.7e-1 SMART
Blast:WD40 237 275 2e-16 BLAST
WD40 321 362 3.55e1 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 one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 A T 13: 104,390,192 probably benign Het
Ccdc54 G A 16: 50,589,917 L329F possibly damaging Het
Cdc42bpg G A 19: 6,318,437 R1055H probably damaging Het
Cylc1 A G X: 111,119,030 T29A possibly damaging Het
Ddx50 T C 10: 62,647,132 T53A probably benign Het
Dmap1 G A 4: 117,676,009 R283C probably damaging Het
Extl3 A T 14: 65,076,707 L342H probably damaging Het
Gjb3 A C 4: 127,326,121 I206S probably damaging Het
Gphn T A 12: 78,376,374 I53K probably damaging Het
Gpr22 C T 12: 31,708,710 probably benign Het
Inpp5b T A 4: 124,782,436 C362S probably benign Het
Iqgap3 C A 3: 88,109,396 Q1062K probably benign Het
Kdm2a A G 19: 4,362,061 probably benign Het
Ltbp3 A G 19: 5,757,732 D1167G possibly damaging Het
Mpo A G 11: 87,795,821 N65D possibly damaging Het
Mrpl2 A G 17: 46,649,983 R268G probably damaging Het
Nfkbia C T 12: 55,490,645 A220T probably damaging Het
Nlrc3 T A 16: 3,947,487 I1091F probably damaging Het
Notch2 T A 3: 98,138,655 S1674R probably benign Het
Olfr298 T C 7: 86,489,557 probably benign Het
Olfr63 T A 17: 33,269,655 N310K probably benign Het
Pde8b A G 13: 95,100,887 probably null Het
Pla2r1 A G 2: 60,504,253 Y392H probably damaging Het
Plekhm1 A T 11: 103,394,783 N275K possibly damaging Het
Prdm16 T C 4: 154,328,425 H1041R probably damaging Het
Rapsn C A 2: 91,036,618 N88K probably damaging Het
Rasef T A 4: 73,769,822 Q31H probably benign Het
Rpl28-ps4 T C 6: 117,213,852 noncoding transcript Het
Trpc7 T C 13: 56,861,065 Y263C probably damaging Het
Ttn T C 2: 76,747,596 T24318A probably damaging Het
Vmn1r35 T C 6: 66,679,450 T79A probably benign Het
Vmn2r100 T A 17: 19,521,963 S200T probably benign Het
Wnt9b A G 11: 103,731,081 V250A probably benign Het
Zyg11a T A 4: 108,201,194 K383M probably null Het
Other mutations in Arpc1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Arpc1b APN 5 145121745 splice site probably null
IGL01859:Arpc1b APN 5 145123730 missense probably damaging 0.98
illusory UTSW 5 145122567 missense probably damaging 1.00
FR4304:Arpc1b UTSW 5 145126791 frame shift probably null
FR4340:Arpc1b UTSW 5 145126792 frame shift probably null
FR4737:Arpc1b UTSW 5 145126787 frame shift probably null
R0110:Arpc1b UTSW 5 145127715 missense probably damaging 1.00
R0245:Arpc1b UTSW 5 145126860 missense probably damaging 1.00
R0469:Arpc1b UTSW 5 145127715 missense probably damaging 1.00
R0652:Arpc1b UTSW 5 145126860 missense probably damaging 1.00
R0827:Arpc1b UTSW 5 145125756 missense probably benign 0.34
R1117:Arpc1b UTSW 5 145125754 missense possibly damaging 0.95
R1453:Arpc1b UTSW 5 145125745 missense probably damaging 1.00
R1895:Arpc1b UTSW 5 145122633 missense probably null 0.99
R1946:Arpc1b UTSW 5 145122633 missense probably null 0.99
R2050:Arpc1b UTSW 5 145125919 missense probably damaging 1.00
R2112:Arpc1b UTSW 5 145123769 missense probably damaging 0.99
R4924:Arpc1b UTSW 5 145126815 missense probably benign 0.02
R6534:Arpc1b UTSW 5 145122567 missense probably damaging 1.00
R6883:Arpc1b UTSW 5 145126929 missense probably benign 0.31
Posted On2013-12-09