Mutagenetix > Incidental Mutation

Incidental Mutation 'R4388:Arpc4'

326300

Institutional Source

Beutler Lab

Gene Symbol

Arpc4

Ensembl Gene

ENSMUSG00000079426

Gene Name

actin related protein 2/3 complex, subunit 4

Synonyms

5330419I20Rik, p20-Arc

MMRRC Submission

041125-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113355076-113367409 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113362458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 36 (D36G)

Ref Sequence

ENSEMBL: ENSMUSP00000131690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000156898] [ENSMUST00000171058] [ENSMUST00000203578] [ENSMUST00000204026] [ENSMUST00000204802]

AlphaFold

P59999

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102708
AA Change: D93G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138722
AA Change: D129G

Predicted Effect

probably damaging
Transcript: ENSMUST00000156898
AA Change: D113G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114839
Gene: ENSMUSG00000079426
AA Change: D113G

Domain	Start	End	E-Value	Type
Pfam:ARPC4	1	167	8.3e-88	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171058
AA Change: D36G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131690
Gene: ENSMUSG00000079426
AA Change: D36G

Domain	Start	End	E-Value	Type
Pfam:ARPC4	1	91	1.1e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203578
AA Change: D23G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145344
Gene: ENSMUSG00000079426
AA Change: D23G

Domain	Start	End	E-Value	Type
Pfam:ARPC4	1	77	1.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204026

SMART Domains

Protein: ENSMUSP00000145049
Gene: ENSMUSG00000030276

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
low complexity region	86	100	N/A	INTRINSIC
low complexity region	248	259	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204802
AA Change: D23G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144751
Gene: ENSMUSG00000079426
AA Change: D23G

Domain	Start	End	E-Value	Type
Pfam:ARPC4	1	77	1.2e-41	PFAM

Meta Mutation Damage Score

0.9720

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

86% (31/36)

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 complex controls actin polymerization in cells and has been conserved throughout eukaryotic evolution. This gene encodes the p20 subunit, which is necessary for actin nucleation and high-affinity binding to F-actin. Alternative splicing results in multiple transcript variants. Naturally occurring read-through transcription exists between this gene and the downstream tubulin tyrosine ligase-like family, member 3 (TTLL3), which results in the production of a fusion protein. [provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,464,693 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,729,828 (GRCm39)	T218A	probably damaging	Het
Aldh1l2	T	C	10: 83,349,486 (GRCm39)	D254G	probably damaging	Het
Cd209b	A	G	8: 3,975,960 (GRCm39)	L67P	probably damaging	Het
Cldn20	G	A	17: 3,583,485 (GRCm39)	M219I	probably benign	Het
Dmxl2	G	A	9: 54,303,551 (GRCm39)	P2308S	probably damaging	Het
Fancd2	A	G	6: 113,533,329 (GRCm39)	I549V	probably damaging	Het
Galnt2	T	C	8: 125,022,192 (GRCm39)		probably null	Het
Galnt9	A	G	5: 110,736,257 (GRCm39)	D191G	probably damaging	Het
Hgf	T	A	5: 16,819,941 (GRCm39)	H557Q	probably benign	Het
Ifna12	T	C	4: 88,521,346 (GRCm39)	D67G	probably benign	Het
Igf1r	A	G	7: 67,819,757 (GRCm39)	I356V	probably benign	Het
Itih1	A	G	14: 30,663,512 (GRCm39)	V164A	possibly damaging	Het
Kcnc1	C	A	7: 46,047,126 (GRCm39)	R9S	possibly damaging	Het
Kmt2b	A	C	7: 30,288,015 (GRCm39)		probably benign	Het
Kmt2d	C	T	15: 98,751,507 (GRCm39)		probably benign	Het
Kng1	T	A	16: 22,898,068 (GRCm39)	H489Q	possibly damaging	Het
Larp7-ps	A	T	4: 92,079,351 (GRCm39)	S157T	probably benign	Het
Map4k5	C	A	12: 69,892,583 (GRCm39)	M115I	probably damaging	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Naca	T	C	10: 127,880,661 (GRCm39)	S1898P	probably damaging	Het
Nlrp4e	A	G	7: 23,000,902 (GRCm39)	K66E	probably benign	Het
Nlrp4e	A	G	7: 23,020,652 (GRCm39)	I380V	probably benign	Het
Pex26	A	G	6: 121,161,351 (GRCm39)	D43G	probably damaging	Het
Prr14l	A	G	5: 32,986,598 (GRCm39)	S966P	probably damaging	Het
Recql4	A	G	15: 76,590,158 (GRCm39)	S659P	probably benign	Het
Serpina3n	C	A	12: 104,377,616 (GRCm39)	Q290K	probably benign	Het
Sft2d1	A	G	17: 8,539,469 (GRCm39)	K91E	possibly damaging	Het
Slc25a16	T	C	10: 62,764,105 (GRCm39)	V54A	probably benign	Het
Svep1	A	G	4: 58,069,249 (GRCm39)	Y2846H	possibly damaging	Het
Ttll2	T	A	17: 7,618,599 (GRCm39)	R443*	probably null	Het
Uty	A	G	Y: 1,151,956 (GRCm39)	S795P	possibly damaging	Het
Xrcc5	T	A	1: 72,369,189 (GRCm39)	S348T	possibly damaging	Het

Other mutations in Arpc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7478:Arpc4	UTSW	6	113,361,092 (GRCm39)	missense	possibly damaging	0.84
R7788:Arpc4	UTSW	6	113,362,565 (GRCm39)	missense	probably benign	0.32
R8940:Arpc4	UTSW	6	113,362,599 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGTGCACACTTACCCATGCTC -3'
(R):5'- AGCTTCTTCCGCAATGGCATC -3'

Sequencing Primer
(F):5'- ACACTTACCCATGCTCTACCTC -3'
(R):5'- TTCCGCAATGGCATCACGAG -3'

Posted On

2015-07-06