Mutagenetix > Incidental Mutation

Incidental Mutation 'R1446:Arpc1a'

158867

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

039501-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.846) question?

Stock #

R1446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

145020679-145045566 bp(+) (GRCm39)

Type of Mutation

splice site (3858 bp from exon)

DNA Base Change (assembly)

A to G at 145037896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114421 (fasta)

Gene Model

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

AlphaFold

Q9R0Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000031625
AA Change: D177G

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000031625
Gene: ENSMUSG00000029621
AA Change: D177G

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

SMART Domains

Protein: ENSMUSP00000114421
Gene: ENSMUSG00000029621

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: ENSMUST00000124379

SMART Domains

Protein: ENSMUSP00000114421
Gene: ENSMUSG00000029621

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: D177G

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143026
Gene: ENSMUSG00000029621
AA Change: D177G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147564

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.6%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	T	5: 77,034,136 (GRCm39)	A472T	probably benign	Het
Adcy4	A	T	14: 56,007,480 (GRCm39)		probably null	Het
Ahcyl2	T	C	6: 29,891,239 (GRCm39)	S448P	probably damaging	Het
Anks1b	A	G	10: 90,346,935 (GRCm39)	Y745C	probably benign	Het
Anxa1	A	T	19: 20,351,103 (GRCm39)	L339Q	probably damaging	Het
Apoa4	A	G	9: 46,153,591 (GRCm39)	D64G	probably benign	Het
Bank1	C	T	3: 135,769,904 (GRCm39)	G727R	probably damaging	Het
Best2	T	C	8: 85,734,593 (GRCm39)	Q375R	probably benign	Het
Cacna1b	T	A	2: 24,596,189 (GRCm39)	M501L	probably benign	Het
Col27a1	T	A	4: 63,143,040 (GRCm39)	Y243N	probably damaging	Het
Cyp11a1	A	T	9: 57,922,560 (GRCm39)	Q80L	possibly damaging	Het
Dnah10	T	A	5: 124,866,860 (GRCm39)	W2260R	probably damaging	Het
Dnajc19	T	C	3: 34,112,128 (GRCm39)	H139R	probably benign	Het
Dppa5a	T	A	9: 78,275,071 (GRCm39)	N77I	probably benign	Het
Edc4	T	C	8: 106,614,764 (GRCm39)	S125P	probably damaging	Het
Eid2	T	C	7: 27,968,014 (GRCm39)	I212T	possibly damaging	Het
Fam234b	T	A	6: 135,186,328 (GRCm39)		probably null	Het
Frem2	T	C	3: 53,562,017 (GRCm39)	E830G	probably benign	Het
Fyb1	A	T	15: 6,681,947 (GRCm39)	I765L	probably benign	Het
Fyn	T	G	10: 39,398,775 (GRCm39)	S124A	probably benign	Het
Gal3st3	T	A	19: 5,356,939 (GRCm39)	F105I	probably damaging	Het
Gpr146	A	G	5: 139,379,177 (GRCm39)	I326M	probably benign	Het
Grk2	G	A	19: 4,337,437 (GRCm39)	R617C	possibly damaging	Het
Gsn	A	G	2: 35,196,598 (GRCm39)	K669R	probably benign	Het
H2-T10	A	T	17: 36,430,266 (GRCm39)	I225N	possibly damaging	Het
Il12rb2	T	C	6: 67,286,127 (GRCm39)	H106R	probably benign	Het
Kat14	A	G	2: 144,215,638 (GRCm39)	E41G	probably damaging	Het
Kcnma1	G	T	14: 23,361,792 (GRCm39)	T1006K	probably damaging	Het
Kif18b	G	A	11: 102,805,525 (GRCm39)	T244I	probably damaging	Het
Klb	A	T	5: 65,506,338 (GRCm39)	H195L	probably damaging	Het
Lrriq4	T	C	3: 30,704,727 (GRCm39)	F252L	probably benign	Het
Lum	C	T	10: 97,404,252 (GRCm39)	T49I	possibly damaging	Het
Map3k4	T	A	17: 12,475,681 (GRCm39)	L84*	probably null	Het
Mindy2	A	G	9: 70,514,738 (GRCm39)		probably null	Het
Mpped2	G	T	2: 106,614,077 (GRCm39)	R137L	possibly damaging	Het
Myo18b	G	A	5: 112,905,425 (GRCm39)	R2058W	probably damaging	Het
Nol8	T	A	13: 49,808,703 (GRCm39)	L65Q	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or4c108	A	G	2: 88,804,109 (GRCm39)	I42T	probably benign	Het
Or4x6	A	T	2: 89,949,202 (GRCm39)	L247M	probably damaging	Het
Or5b105	G	A	19: 13,080,380 (GRCm39)	A96V	possibly damaging	Het
Or5g9	A	G	2: 85,551,917 (GRCm39)	H56R	probably damaging	Het
Or8b3	T	G	9: 38,314,601 (GRCm39)	C144G	possibly damaging	Het
Or9a4	C	T	6: 40,548,833 (GRCm39)	S171L	probably benign	Het
Parp12	G	T	6: 39,079,495 (GRCm39)	D338E	probably benign	Het
Pde6d	T	C	1: 86,474,414 (GRCm39)	E77G	probably damaging	Het
Phkg1	A	C	5: 129,902,055 (GRCm39)		probably null	Het
Pigw	A	C	11: 84,769,186 (GRCm39)	S48A	probably benign	Het
Pkm	T	A	9: 59,576,193 (GRCm39)		probably null	Het
Ppp1r3f	G	A	X: 7,426,602 (GRCm39)	T553M	probably damaging	Het
Retreg2	T	A	1: 75,120,103 (GRCm39)	F44L	possibly damaging	Het
Ryr2	A	T	13: 11,753,035 (GRCm39)	M1762K	probably benign	Het
Sec16a	A	G	2: 26,313,579 (GRCm39)	V1927A	probably benign	Het
Sec23a	G	T	12: 59,025,345 (GRCm39)	A492E	probably damaging	Het
Skint4	T	A	4: 111,975,311 (GRCm39)	H82Q	probably benign	Het
Srbd1	T	C	17: 86,446,580 (GRCm39)	K60E	probably benign	Het
Stk24	A	G	14: 121,545,456 (GRCm39)	Y101H	probably damaging	Het
Sult1e1	A	T	5: 87,726,396 (GRCm39)	N239K	probably damaging	Het
Tgs1	C	T	4: 3,604,848 (GRCm39)	P757S	probably damaging	Het
Tmc2	A	T	2: 130,090,650 (GRCm39)	E665D	probably damaging	Het
Tmprss15	C	A	16: 78,875,846 (GRCm39)	D163Y	probably benign	Het
Unc13a	C	A	8: 72,101,625 (GRCm39)	V1009L	possibly damaging	Het
Unc45b	G	T	11: 82,819,496 (GRCm39)	G490C	probably damaging	Het
Vmn1r177	T	A	7: 23,565,765 (GRCm39)	H37L	probably damaging	Het
Vwa5a	A	G	9: 38,645,264 (GRCm39)	M450V	possibly damaging	Het
Wars2	T	C	3: 99,094,843 (GRCm39)	I46T	probably benign	Het
Wdfy3	G	T	5: 101,999,176 (GRCm39)	T3098K	possibly damaging	Het
Zan	A	T	5: 137,387,622 (GRCm39)	I4863N	unknown	Het
Zfp616	A	G	11: 73,974,064 (GRCm39)		probably null	Het
Zfp770	A	T	2: 114,027,514 (GRCm39)	I185N	probably damaging	Het
Zfp808	T	G	13: 62,320,821 (GRCm39)	H683Q	probably damaging	Het
Zmym4	A	T	4: 126,776,275 (GRCm39)	W1221R	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
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'- AGATTGATTGGCCTTGCCCGTC -3'
(R):5'- TAACCTGGCAGTTCTGAAGGGACC -3'

Sequencing Primer
(F):5'- GCCCGTCGTGTTTTGTTC -3'
(R):5'- GCACACTTTTTGAGGCATCAG -3'

Posted On

2014-03-14