Incidental Mutation 'IGL01503:Arpc1a'
ID88936
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arpc1a
Ensembl Gene ENSMUSG00000029621
Gene Nameactin related protein 2/3 complex, subunit 1A
SynonymsSid32, 0610010H08Rik, 1110030K07Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.897) question?
Stock #IGL01503
Quality Score
Status
Chromosome5
Chromosomal Location145083830-145108761 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 145096154 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 91 (V91A)
Ref Sequence ENSEMBL: ENSMUSP00000143026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031625] [ENSMUST00000124379] [ENSMUST00000127694]
Predicted Effect probably benign
Transcript: ENSMUST00000031625
AA Change: V91A

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000031625
Gene: ENSMUSG00000029621
AA Change: V91A

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 damaging
Transcript: ENSMUST00000124379
AA Change: V91A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114421
Gene: ENSMUSG00000029621
AA Change: V91A

DomainStartEndE-ValueType
Blast:WD40 1 36 2e-19 BLAST
WD40 41 80 2.55e-6 SMART
WD40 89 124 1.1e2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000127694
AA Change: V91A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143026
Gene: ENSMUSG00000029621
AA Change: V91A

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: ENSMUST00000134835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147564
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T A 16: 89,174,869 Y26* probably null Het
Atp2a1 T A 7: 126,448,578 I687F probably damaging Het
B3gnt5 A C 16: 19,769,781 Y250S probably damaging Het
Brip1 A G 11: 86,061,877 V1026A probably benign Het
C1s2 T C 6: 124,625,653 D527G probably damaging Het
Chrna5 T A 9: 54,998,171 probably benign Het
Cltc C A 11: 86,695,700 probably benign Het
Dgkh T G 14: 78,616,270 I439L possibly damaging Het
Dnajc16 G A 4: 141,763,697 T714I possibly damaging Het
Fam13a A T 6: 58,956,080 I349N probably damaging Het
Fig4 C T 10: 41,256,518 D431N probably benign Het
Gabra4 A T 5: 71,641,086 N183K possibly damaging Het
Ggt5 C T 10: 75,610,110 probably benign Het
Gm436 T A 4: 144,674,567 I116F probably damaging Het
Hdac6 A G X: 7,932,179 L798P probably damaging Het
Hectd4 T C 5: 121,318,651 V2030A probably benign Het
Hecw2 A G 1: 53,826,961 Y1514H probably damaging Het
Hmcn1 T C 1: 150,605,072 D4451G probably benign Het
Krtcap3 T C 5: 31,251,823 probably benign Het
Ltn1 A T 16: 87,420,807 probably benign Het
Mapkapk2 T C 1: 131,058,762 M1V probably null Het
Mical3 A T 6: 120,958,576 I1663N probably benign Het
Mvp G T 7: 127,001,961 probably benign Het
Myo5c A G 9: 75,263,042 I485V probably damaging Het
N4bp2 T A 5: 65,803,547 C520* probably null Het
Nos2 A G 11: 78,945,863 probably benign Het
Ogdh G A 11: 6,355,069 V925M probably damaging Het
Pde2a T A 7: 101,501,936 probably benign Het
Plpp6 A G 19: 28,964,879 *293W probably null Het
Pole T A 5: 110,303,884 I864K probably damaging Het
Rexo4 A T 2: 26,960,633 I239N probably benign Het
Scn1a T A 2: 66,322,343 I748F probably damaging Het
Sfmbt2 A T 2: 10,579,354 R841* probably null Het
Sh3bp5l A G 11: 58,338,001 N100S probably damaging Het
Spic T A 10: 88,675,761 D211V probably damaging Het
Stab2 A G 10: 86,940,613 probably benign Het
Tshr A G 12: 91,511,934 Y83C probably damaging Het
Vsir A G 10: 60,368,594 E172G probably damaging Het
Wwp2 T C 8: 107,549,781 S508P probably damaging Het
Other mutations in Arpc1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02672:Arpc1a APN 5 145104887 missense probably damaging 0.99
R0068:Arpc1a UTSW 5 145091244 missense possibly damaging 0.62
R0068:Arpc1a UTSW 5 145091244 missense possibly damaging 0.62
R1347:Arpc1a UTSW 5 145097272 missense probably damaging 1.00
R1347:Arpc1a UTSW 5 145097272 missense probably damaging 1.00
R1446:Arpc1a UTSW 5 145101086 splice site probably null
R1870:Arpc1a UTSW 5 145107091 missense possibly damaging 0.80
R1871:Arpc1a UTSW 5 145107091 missense possibly damaging 0.80
R2154:Arpc1a UTSW 5 145092559 missense probably benign 0.33
R2385:Arpc1a UTSW 5 145104523 splice site probably null
R3698:Arpc1a UTSW 5 145096191 missense probably damaging 0.98
R6462:Arpc1a UTSW 5 145108387 missense probably benign 0.01
R6720:Arpc1a UTSW 5 145101222 splice site probably null
R6825:Arpc1a UTSW 5 145096126 nonsense probably null
R7174:Arpc1a UTSW 5 145097277 missense probably benign 0.38
R7473:Arpc1a UTSW 5 145101076 missense probably benign
R7619:Arpc1a UTSW 5 145104858 missense probably benign 0.36
R7775:Arpc1a UTSW 5 145104812 missense probably benign 0.00
Posted On2013-12-03