Incidental Mutation 'IGL02672:Arpc1a'
ID 302967
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arpc1a
Ensembl Gene ENSMUSG00000029621
Gene Name actin related protein 2/3 complex, subunit 1A
Synonyms Sid32, 1110030K07Rik, 0610010H08Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.846) question?
Stock # IGL02672
Quality Score
Status
Chromosome 5
Chromosomal Location 145020679-145045566 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 145041697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 327 (I327L)
Ref Sequence ENSEMBL: ENSMUSP00000031625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031625] [ENSMUST00000127694]
AlphaFold Q9R0Q6
Predicted Effect probably damaging
Transcript: ENSMUST00000031625
AA Change: I327L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031625
Gene: ENSMUSG00000029621
AA Change: I327L

DomainStartEndE-ValueType
Blast:WD40 1 36 1e-18 BLAST
WD40 41 80 2.55e-6 SMART
WD40 89 124 1.1e2 SMART
WD40 134 170 1.46e-1 SMART
WD40 191 232 4.62e-1 SMART
WD40 235 273 9.51e1 SMART
WD40 312 356 3.68e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127694
SMART Domains Protein: ENSMUSP00000143026
Gene: ENSMUSG00000029621

DomainStartEndE-ValueType
Blast:WD40 1 36 2e-18 BLAST
WD40 41 80 1.6e-8 SMART
WD40 89 124 6.8e-1 SMART
WD40 134 170 8.9e-4 SMART
WD40 191 232 2.8e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142276
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 ARPC1B. 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Alpi A G 1: 87,028,994 (GRCm39) L60P probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Dcaf7 T C 11: 105,945,684 (GRCm39) probably benign Het
Dnah9 T G 11: 65,818,427 (GRCm39) I3304L probably benign Het
Dpp10 T A 1: 123,304,376 (GRCm39) H508L probably benign Het
Dync1i1 A G 6: 5,767,034 (GRCm39) D86G probably benign Het
Enpp7 T C 11: 118,883,166 (GRCm39) probably null Het
Fbxw9 C A 8: 85,792,682 (GRCm39) probably null Het
Foxred2 A G 15: 77,829,777 (GRCm39) probably null Het
Gas2l2 C T 11: 83,315,957 (GRCm39) R254H probably damaging Het
Gatad2b C T 3: 90,249,198 (GRCm39) L79F possibly damaging Het
Igf1r A T 7: 67,839,781 (GRCm39) D696V probably benign Het
Kcnk5 A G 14: 20,196,580 (GRCm39) I96T probably damaging Het
Lrrc8c C T 5: 105,755,224 (GRCm39) T333M possibly damaging Het
Mcm10 T C 2: 5,006,092 (GRCm39) T417A probably benign Het
Mesp2 T C 7: 79,461,145 (GRCm39) S157P probably benign Het
Naca A G 10: 127,876,152 (GRCm39) probably benign Het
Or5t17 A T 2: 86,832,417 (GRCm39) M35L probably benign Het
Osgepl1 A G 1: 53,359,270 (GRCm39) T260A probably benign Het
Otop1 T C 5: 38,435,170 (GRCm39) probably null Het
Pdk1 T C 2: 71,726,096 (GRCm39) S335P probably damaging Het
Phkb A G 8: 86,668,987 (GRCm39) N338S probably benign Het
Pogz G A 3: 94,763,410 (GRCm39) V61I probably benign Het
Ppp4r1 A G 17: 66,147,942 (GRCm39) Y928C probably damaging Het
Rab17 T C 1: 90,886,940 (GRCm39) E160G probably damaging Het
Rasgrp3 T A 17: 75,803,412 (GRCm39) F70Y probably benign Het
Rere T A 4: 150,594,483 (GRCm39) N364K unknown Het
Ryr1 A T 7: 28,703,944 (GRCm39) probably benign Het
Sae1 A G 7: 16,104,273 (GRCm39) V112A probably damaging Het
Serpinb6d C T 13: 33,855,372 (GRCm39) H349Y probably benign Het
Slc12a1 T C 2: 125,012,596 (GRCm39) V286A probably damaging Het
Smad3 A T 9: 63,575,009 (GRCm39) probably null Het
Sox8 T A 17: 25,787,963 (GRCm39) D162V probably damaging Het
Sptbn1 A G 11: 30,087,239 (GRCm39) F1067L probably damaging Het
Tmprss3 T C 17: 31,409,981 (GRCm39) Y211C probably damaging Het
Top2b T C 14: 16,409,166 (GRCm38) probably benign Het
Tpp1 A T 7: 105,396,168 (GRCm39) H510Q probably benign Het
Ugcg T A 4: 59,218,587 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,818,376 (GRCm39) I651N probably benign Het
Wdr25 A T 12: 108,864,007 (GRCm39) K51* probably null Het
Other mutations in Arpc1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01503:Arpc1a APN 5 145,032,964 (GRCm39) missense probably damaging 1.00
R0068:Arpc1a UTSW 5 145,028,054 (GRCm39) missense possibly damaging 0.62
R0068:Arpc1a UTSW 5 145,028,054 (GRCm39) missense possibly damaging 0.62
R1347:Arpc1a UTSW 5 145,034,082 (GRCm39) missense probably damaging 1.00
R1347:Arpc1a UTSW 5 145,034,082 (GRCm39) missense probably damaging 1.00
R1446:Arpc1a UTSW 5 145,037,896 (GRCm39) splice site probably null
R1870:Arpc1a UTSW 5 145,043,901 (GRCm39) missense possibly damaging 0.80
R1871:Arpc1a UTSW 5 145,043,901 (GRCm39) missense possibly damaging 0.80
R2154:Arpc1a UTSW 5 145,029,369 (GRCm39) missense probably benign 0.33
R2385:Arpc1a UTSW 5 145,041,333 (GRCm39) splice site probably null
R3698:Arpc1a UTSW 5 145,033,001 (GRCm39) missense probably damaging 0.98
R6462:Arpc1a UTSW 5 145,045,197 (GRCm39) missense probably benign 0.01
R6720:Arpc1a UTSW 5 145,038,032 (GRCm39) splice site probably null
R6825:Arpc1a UTSW 5 145,032,936 (GRCm39) nonsense probably null
R7174:Arpc1a UTSW 5 145,034,087 (GRCm39) missense probably benign 0.38
R7473:Arpc1a UTSW 5 145,037,886 (GRCm39) missense probably benign
R7619:Arpc1a UTSW 5 145,041,668 (GRCm39) missense probably benign 0.36
R7775:Arpc1a UTSW 5 145,041,622 (GRCm39) missense probably benign 0.00
R9433:Arpc1a UTSW 5 145,045,203 (GRCm39) missense possibly damaging 0.90
Posted On 2015-04-16