Mutagenetix > Incidental Mutation

Incidental Mutation 'R0068:Arpc1a'

64415

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

038359-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.846) question?

Stock #

R0068 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

145020679-145045566 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 145028054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 21 (T21I)

Ref Sequence

ENSEMBL: ENSMUSP00000114421 (fasta)

Gene Model

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

AlphaFold

Q9R0Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000031625
AA Change: T21I

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000031625
Gene: ENSMUSG00000029621
AA Change: T21I

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

possibly damaging
Transcript: ENSMUST00000124379
AA Change: T21I

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114421
Gene: ENSMUSG00000029621
AA Change: T21I

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

possibly damaging
Transcript: ENSMUST00000127694
AA Change: T21I

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143026
Gene: ENSMUSG00000029621
AA Change: T21I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134835

Meta Mutation Damage Score

0.1643

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 92.6%

Validation Efficiency

99% (72/73)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,073,708 (GRCm39)	T1448A	probably damaging	Het
Aldoart2	G	T	12: 55,612,233 (GRCm39)	E53*	probably null	Het
Ankra2	C	T	13: 98,409,891 (GRCm39)	Q137*	probably null	Het
Arvcf	T	C	16: 18,214,819 (GRCm39)		probably benign	Het
Ash1l	C	A	3: 88,914,624 (GRCm39)	S1751R	probably benign	Het
Bltp1	A	G	3: 37,006,370 (GRCm39)	T1675A	probably benign	Het
Bsn	C	A	9: 107,989,336 (GRCm39)	G2139C	probably damaging	Het
Ccdc148	T	C	2: 58,717,629 (GRCm39)	E530G	probably benign	Het
Cct3	A	G	3: 88,225,772 (GRCm39)	D365G	probably benign	Het
Chd2	A	T	7: 73,134,282 (GRCm39)	S688R	probably damaging	Het
Crispld1	A	G	1: 17,823,212 (GRCm39)	T398A	possibly damaging	Het
Ctbp2	A	C	7: 132,591,788 (GRCm39)	V906G	possibly damaging	Het
Cwf19l1	A	T	19: 44,119,938 (GRCm39)	Y68N	probably damaging	Het
Dlc1	T	A	8: 37,404,875 (GRCm39)	M305L	probably benign	Het
Dnm1l	C	A	16: 16,141,883 (GRCm39)	G288C	probably damaging	Het
Efcab3	T	C	11: 104,611,648 (GRCm39)	S497P	probably benign	Het
Fignl2	A	T	15: 100,952,129 (GRCm39)	I51N	probably damaging	Het
Flnb	A	G	14: 7,915,290 (GRCm38)	N1474D	possibly damaging	Het
Ghrhr	C	T	6: 55,357,849 (GRCm39)		probably benign	Het
Hltf	G	A	3: 20,113,254 (GRCm39)	R9H	probably damaging	Het
Hps5	A	G	7: 46,426,466 (GRCm39)		probably benign	Het
Itpr3	T	C	17: 27,323,034 (GRCm39)		probably benign	Het
Kansl1l	A	G	1: 66,760,047 (GRCm39)	V911A	probably benign	Het
Kdm3b	C	T	18: 34,957,827 (GRCm39)	T1064I	probably benign	Het
Lrriq1	T	A	10: 102,899,279 (GRCm39)	Q1654L	probably benign	Het
Ltbp1	A	G	17: 75,666,404 (GRCm39)	T1366A	probably damaging	Het
Mroh1	A	G	15: 76,330,892 (GRCm39)		probably benign	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Napb	G	A	2: 148,540,843 (GRCm39)		probably benign	Het
Npc1	G	C	18: 12,341,424 (GRCm39)	P532A	probably benign	Het
Nrp2	G	T	1: 62,784,536 (GRCm39)	K228N	possibly damaging	Het
Or13f5	T	A	4: 52,825,503 (GRCm39)	Y35*	probably null	Het
Plekhg1	A	T	10: 3,890,504 (GRCm39)	K241*	probably null	Het
Poln	T	C	5: 34,234,432 (GRCm39)		probably benign	Het
Ppil1	A	T	17: 29,471,230 (GRCm39)	F92I	probably damaging	Het
Ppp1r9b	T	G	11: 94,892,046 (GRCm39)	F154V	probably damaging	Het
Ptchd3	T	G	11: 121,733,798 (GRCm39)	L896R	probably damaging	Het
Rev3l	A	G	10: 39,700,827 (GRCm39)	N1775D	possibly damaging	Het
Rusc2	T	C	4: 43,424,100 (GRCm39)		probably benign	Het
Selenbp2	T	C	3: 94,610,816 (GRCm39)	V294A	probably benign	Het
Slc25a48	T	C	13: 56,599,024 (GRCm39)	V118A	probably damaging	Het
Slc38a10	T	C	11: 120,025,679 (GRCm39)	D219G	probably damaging	Het
Slc38a2	C	T	15: 96,589,173 (GRCm39)		probably null	Het
Slc39a12	A	G	2: 14,440,489 (GRCm39)	E480G	probably benign	Het
Tab2	C	A	10: 7,795,441 (GRCm39)	R347L	probably damaging	Het
Tas2r123	T	C	6: 132,824,955 (GRCm39)	I284T	possibly damaging	Het
Tnks1bp1	T	A	2: 84,892,696 (GRCm39)	D212E	probably benign	Het
Trim67	T	C	8: 125,521,307 (GRCm39)	V223A	probably damaging	Het
Ugcg	A	G	4: 59,217,130 (GRCm39)	D218G	probably benign	Het
Vmn2r59	A	G	7: 41,695,725 (GRCm39)	L229S	probably damaging	Het
Zfp451	A	T	1: 33,816,706 (GRCm39)	L198I	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
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

Predicted Primers

PCR Primer
(F):5'- GGGTCCCTCTGACGACTTAAACTCT -3'
(R):5'- CAATGATGTTTTCCCCAGATCCCCTC -3'

Sequencing Primer
(F):5'- aaatccacctgcctctgtc -3'
(R):5'- catacacacacacacacacac -3'

Posted On

2013-08-06