Mutagenetix > Incidental Mutation

Incidental Mutation 'R6825:Arpc1a'

534098

Institutional Source

Beutler Lab

Gene Symbol

Arpc1a

Ensembl Gene

ENSMUSG00000029621

Gene Name

actin related protein 2/3 complex, subunit 1A

Synonyms

Sid32, 1110030K07Rik, 0610010H08Rik

MMRRC Submission

044937-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.846) question?

Stock #

R6825 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

145020679-145045566 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 145032936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 82 (K82*)

Ref Sequence

ENSEMBL: ENSMUSP00000143026 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031625] [ENSMUST00000124379] [ENSMUST00000127694]

AlphaFold

Q9R0Q6

Predicted Effect

probably null
Transcript: ENSMUST00000031625
AA Change: K82*

SMART Domains

Protein: ENSMUSP00000031625
Gene: ENSMUSG00000029621
AA Change: K82*

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000124379
AA Change: K82*

SMART Domains

Protein: ENSMUSP00000114421
Gene: ENSMUSG00000029621
AA Change: K82*

Domain	Start	End	E-Value	Type
Blast:WD40	1	36	2e-19	BLAST
WD40	41	80	2.55e-6	SMART
WD40	89	124	1.1e2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000127694
AA Change: K82*

SMART Domains

Protein: ENSMUSP00000143026
Gene: ENSMUSG00000029621
AA Change: K82*

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (62/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,954,654 (GRCm39)	S206T	probably benign	Het
Aasdh	A	T	5: 77,036,696 (GRCm39)		probably null	Het
Adam10	G	T	9: 70,668,884 (GRCm39)	C400F	probably damaging	Het
Ankle2	A	T	5: 110,398,635 (GRCm39)	R561S	probably null	Het
Arhgef5	C	T	6: 43,251,895 (GRCm39)	T882I	probably damaging	Het
Card11	C	A	5: 140,863,837 (GRCm39)	R967L	probably benign	Het
Ccdc82	G	T	9: 13,251,601 (GRCm39)		probably benign	Het
Cebpz	T	C	17: 79,227,392 (GRCm39)	D1026G	probably damaging	Het
Cit	A	T	5: 116,119,833 (GRCm39)	Q1321L	probably damaging	Het
Clcn2	C	A	16: 20,528,408 (GRCm39)		probably benign	Het
Csf3	G	C	11: 98,593,273 (GRCm39)	G130A	probably damaging	Het
Cul2	T	A	18: 3,434,946 (GRCm39)	S737T	probably damaging	Het
Cyp1a2	G	A	9: 57,584,543 (GRCm39)	H504Y	probably benign	Het
Cyp3a44	G	A	5: 145,716,396 (GRCm39)	P398L	probably damaging	Het
Dnah8	T	C	17: 30,960,147 (GRCm39)	I2206T	probably damaging	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Epb41l5	A	T	1: 119,547,931 (GRCm39)	D157E	possibly damaging	Het
Ercc8	T	C	13: 108,295,343 (GRCm39)	S6P	probably damaging	Het
Faxc	T	C	4: 21,931,672 (GRCm39)	S37P	probably benign	Het
Fbxl19	T	A	7: 127,349,187 (GRCm39)	I119K	probably damaging	Het
Frmd4b	A	G	6: 97,302,437 (GRCm39)	V195A	possibly damaging	Het
Fut9	A	T	4: 25,619,925 (GRCm39)	S296R	probably benign	Het
Gas6	T	C	8: 13,533,674 (GRCm39)	N112D	probably benign	Het
H2-Q1	T	C	17: 35,540,028 (GRCm39)	L99P	probably damaging	Het
Helq	A	T	5: 100,940,561 (GRCm39)	I346N	probably damaging	Het
Hepacam	A	G	9: 37,278,976 (GRCm39)	K2E	possibly damaging	Het
Itgae	T	C	11: 73,009,322 (GRCm39)	M502T	possibly damaging	Het
Kmt2a	G	A	9: 44,729,704 (GRCm39)		probably benign	Het
Lhx9	ACC	ACCC	1: 138,769,544 (GRCm39)		probably null	Het
Macf1	A	T	4: 123,277,015 (GRCm39)		probably null	Het
Mgat4a	T	A	1: 37,503,515 (GRCm39)	K220*	probably null	Het
Or2t43	T	C	11: 58,457,476 (GRCm39)	R232G	possibly damaging	Het
Or4c104	T	C	2: 88,586,255 (GRCm39)	I255V	possibly damaging	Het
Or5b3	G	A	19: 13,388,514 (GRCm39)	V194I	probably benign	Het
Pex5	A	T	6: 124,391,340 (GRCm39)	M18K	probably damaging	Het
Phlda3	T	C	1: 135,694,562 (GRCm39)	*126Q	probably null	Het
Plxna1	G	T	6: 89,297,597 (GRCm39)	D1862E	probably benign	Het
Pold4	A	T	19: 4,282,164 (GRCm39)	I7F	possibly damaging	Het
Prkaa1	A	T	15: 5,173,432 (GRCm39)	I19F	possibly damaging	Het
Prl7d1	T	G	13: 27,894,125 (GRCm39)	E148A	probably benign	Het
Prr14l	A	T	5: 32,985,892 (GRCm39)	V1201E	possibly damaging	Het
Rab3gap1	T	C	1: 127,858,158 (GRCm39)	C510R	probably damaging	Het
Rhbdf1	C	T	11: 32,159,970 (GRCm39)	R802H	probably damaging	Het
Rpl18a	A	C	8: 71,348,836 (GRCm39)	F47V	probably damaging	Het
Sema5b	C	A	16: 35,448,377 (GRCm39)		probably null	Het
Sspo	G	A	6: 48,442,459 (GRCm39)	G1985R	probably benign	Het
Tcaf2	C	T	6: 42,606,452 (GRCm39)	A501T	probably benign	Het
Tcerg1	A	G	18: 42,681,542 (GRCm39)	D563G	probably damaging	Het
Tdh	G	A	14: 63,733,281 (GRCm39)	T155M	probably damaging	Het
Tenm2	T	C	11: 35,937,711 (GRCm39)	N1654S	probably benign	Het
Tlr5	A	T	1: 182,800,609 (GRCm39)		probably benign	Het
Tns1	G	T	1: 74,041,482 (GRCm39)	C136*	probably null	Het
Tomm5	A	T	4: 45,106,443 (GRCm39)		probably null	Het
Trio	A	T	15: 27,889,394 (GRCm39)	F512I	probably damaging	Het
Ttll5	A	T	12: 85,930,102 (GRCm39)		probably null	Het
Upp1	T	A	11: 9,081,707 (GRCm39)	H81Q	probably benign	Het
Usp42	A	G	5: 143,713,562 (GRCm39)	S71P	probably damaging	Het
Vamp5	G	A	6: 72,357,424 (GRCm39)		probably benign	Het
Zap70	A	G	1: 36,817,471 (GRCm39)	Y238C	probably damaging	Het
Zfp398	A	G	6: 47,843,265 (GRCm39)	D307G	probably damaging	Het

Other mutations in Arpc1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01503:Arpc1a	APN	5	145,032,964 (GRCm39)	missense	probably damaging	1.00
IGL02672:Arpc1a	APN	5	145,041,697 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- AACAGCCTTGGTTTTGTATGAG -3'
(R):5'- CACATGCAACTTGGCTCACC -3'

Sequencing Primer
(F):5'- GGGGAAGAAACCACTAAGCCC -3'
(R):5'- GGCTCACCAGTCATTCTCAGAC -3'

Posted On

2018-09-12