Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4304:Arpc1b'

510992

Institutional Source

Beutler Lab

Gene Symbol

Arpc1b

Ensembl Gene

ENSMUSG00000029622

Gene Name

actin related protein 2/3 complex, subunit 1B

Synonyms

L72, p41-ARC, SOP2Hs

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

FR4304 ()

Quality Score

165.468

Status

Not validated

Chromosome

Chromosomal Location

145051066-145064996 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GCC to GCCTGTCC at 145063601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031627] [ENSMUST00000085679] [ENSMUST00000136074] [ENSMUST00000196111] [ENSMUST00000141602]

AlphaFold

Q9WV32

Predicted Effect

probably benign
Transcript: ENSMUST00000031627

SMART Domains

Protein: ENSMUSP00000031627
Gene: ENSMUSG00000029623

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	28	47	N/A	INTRINSIC
low complexity region	52	69	N/A	INTRINSIC
Pfam:PP28	84	163	3e-35	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000085679

SMART Domains

Protein: ENSMUSP00000082822
Gene: ENSMUSG00000029622

Domain	Start	End	E-Value	Type
Blast:WD40	1	36	4e-14	BLAST
WD40	41	80	1.21e-7	SMART
WD40	85	124	1.54e0	SMART
WD40	130	170	1.56e-1	SMART
WD40	191	230	7.7e-1	SMART
Blast:WD40	233	271	9e-18	BLAST
WD40	317	358	3.55e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129033

Predicted Effect

probably benign
Transcript: ENSMUST00000136074

SMART Domains

Protein: ENSMUSP00000115022
Gene: ENSMUSG00000029622

Domain	Start	End	E-Value	Type
Pfam:WD40	3	29	2.5e-3	PFAM
WD40	77	121	1.79e-1	SMART
WD40	142	181	7.7e-1	SMART
Blast:WD40	184	222	1e-18	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000196111

SMART Domains

Protein: ENSMUSP00000143438
Gene: ENSMUSG00000029622

Domain	Start	End	E-Value	Type
Blast:WD40	1	36	4e-14	BLAST
WD40	41	80	1.21e-7	SMART
WD40	85	124	1.54e0	SMART
WD40	130	170	1.56e-1	SMART
WD40	191	230	7.7e-1	SMART
Blast:WD40	237	275	2e-16	BLAST
WD40	321	362	3.55e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000138922

SMART Domains

Protein: ENSMUSP00000115515
Gene: ENSMUSG00000029622

Domain	Start	End	E-Value	Type
PDB:2P9U\|C	2	93	4e-43	PDB
SCOP:d1k8kc_	35	93	2e-11	SMART
Blast:WD40	50	87	3e-20	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143439

Predicted Effect

probably benign
Transcript: ENSMUST00000141602

SMART Domains

Protein: ENSMUSP00000122340
Gene: ENSMUSG00000029622

Domain	Start	End	E-Value	Type
Blast:WD40	1	36	2e-15	BLAST
PDB:2P9U\|C	1	56	2e-33	PDB
SCOP:d1k8kc_	9	56	2e-6	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 96.4%

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 ARPC1A. 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. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011]

Allele List at MGI

Other mutations in this stock

Total: 137 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	CTT	CTTTTT	12: 110,634,883 (GRCm39)		probably benign	Homo
1700001K19Rik	TTC	TTCGTC	12: 110,634,884 (GRCm39)		probably benign	Homo
4930433I11Rik	ACCTC	AC	7: 40,642,480 (GRCm39)		probably benign	Het
4930447C04Rik	AAGT	A	12: 72,928,061 (GRCm39)		probably benign	Homo
Acbd4	CAG	CAGACTAG	11: 102,994,931 (GRCm39)		probably null	Homo
Ahdc1	CT	CTCTT	4: 132,790,070 (GRCm39)		probably benign	Homo
Alpk3	TCT	TCTGCT	7: 80,727,510 (GRCm39)		probably benign	Het
Anapc4	C	T	5: 53,021,868 (GRCm39)	T650M	probably damaging	Homo
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,693,977 (GRCm39)		probably benign	Het
Ankrd35	TAGC	TAGCAGC	3: 96,591,163 (GRCm39)		probably benign	Homo
Apc	GCCAATAAA	GCCAATAAAACCAATAAA	18: 34,415,050 (GRCm39)		probably benign	Het
Apol6	TTGT	TTGTCTGT	15: 76,935,636 (GRCm39)		probably null	Het
Arhgap30	TGGCCC	TGGCCCTGGCCCAGGCCTTGGCCCCGGCCC	1: 171,232,736 (GRCm39)		probably benign	Het
Blm	CT	CTACGT	7: 80,113,521 (GRCm39)		probably null	Homo
Blm	TCCTCCTCCTCC	TCCTCCTCCTCCACCTCCTCCTCC	7: 80,162,667 (GRCm39)		probably benign	Het
Btnl10	GA	GAATA	11: 58,814,756 (GRCm39)		probably benign	Homo
Cacna1f	AGG	AGGCGG	X: 7,486,300 (GRCm39)		probably benign	Het
Calhm3	CG	CGG	19: 47,140,335 (GRCm39)		probably null	Homo
Catsper2	C	CTTTTACTTTTTA	2: 121,228,023 (GRCm39)		probably null	Homo
Catsper2	CAT	CATTAT	2: 121,228,263 (GRCm39)		probably benign	Het
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Homo
Ccdc15	AC	ACTTTCC	9: 37,226,453 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,432,117 (GRCm39)	D1792G	possibly damaging	Het
Ccdc170	CCA	CCATCA	10: 4,511,021 (GRCm39)		probably benign	Het
Ccdc73	TAAG	T	2: 104,822,185 (GRCm39)		probably benign	Homo
Ccdc85c	GCC	GCCCCC	12: 108,240,871 (GRCm39)		probably benign	Het
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Het
Cd80	AGA	AGAGGA	16: 38,306,677 (GRCm39)		probably benign	Homo
Cep89	GACT	G	7: 35,109,066 (GRCm39)		probably benign	Het
Cfap74	A	G	4: 155,500,217 (GRCm39)	D21G	possibly damaging	Homo
Cgref1	T	TCTA	5: 31,091,124 (GRCm39)		probably benign	Homo
Chd4	GCC	GCCACTCCC	6: 125,099,107 (GRCm39)		probably benign	Het
Cnpy3	TCC	TCCCCC	17: 47,047,669 (GRCm39)		probably benign	Het
Cnpy3	TCC	TCCACC	17: 47,047,672 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,407 (GRCm39)		probably benign	Het
Cntnap1	CCCCAG	CCCCAGACCCAG	11: 101,080,415 (GRCm39)		probably benign	Het
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Homo
Cpeb4	T	TGA	11: 31,877,638 (GRCm39)		probably benign	Homo
Cpne1	AGA	AGAGAGA	2: 155,913,945 (GRCm39)		probably null	Homo
Cttnbp2	ATTGCTG	ATTGCTGTTGCTG	6: 18,367,457 (GRCm39)		probably benign	Het
Dhx37	CTGG	C	5: 125,504,594 (GRCm39)		probably benign	Het
Dhx8	CGAGAC	CGAGACGGAGAC	11: 101,629,014 (GRCm39)		probably benign	Homo
Dnaaf9	TCC	TCCCCC	2: 130,612,668 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Homo
Dst	C	A	1: 34,240,045 (GRCm39)	S1798Y	probably damaging	Het
Eif3a	TA	TATTTCA	19: 60,763,728 (GRCm39)		probably benign	Homo
Ermn	TTC	TTCCTC	2: 57,938,090 (GRCm39)		probably benign	Het
Ermn	CTT	CTTGTT	2: 57,938,098 (GRCm39)		probably benign	Het
Fbxo43	TGTGCC	TGTGCCAGTGCC	15: 36,152,243 (GRCm39)		probably benign	Het
Fbxo43	GCCTGT	GCCTGTCCCTGT	15: 36,152,246 (GRCm39)		probably benign	Het
Fbxo43	GCCTGT	GCCTGTTCCTGT	15: 36,152,240 (GRCm39)		probably benign	Het
Fmn1	TCC	TCCTCCACC	2: 113,356,128 (GRCm39)		probably benign	Homo
Fmn1	TCCTCC	TCCTCCCCCTCC	2: 113,356,119 (GRCm39)		probably benign	Het
Foxd3	GGACCCTACGGCCG	GG	4: 99,545,633 (GRCm39)		probably benign	Homo
Frmpd2	G	T	14: 33,232,978 (GRCm39)	L399F	probably damaging	Homo
Gabre	ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	X: 71,313,648 (GRCm39)		probably benign	Homo
Gbp2b	A	G	3: 142,309,413 (GRCm39)	I175V	probably benign	Het
Gm4340	CAG	CAGAAG	10: 104,031,933 (GRCm39)		probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,031,943 (GRCm39)		probably benign	Het
Gm5114	T	C	7: 39,060,529 (GRCm39)	R107G	probably benign	Het
Gm5114	A	C	7: 39,060,530 (GRCm39)	H106Q	probably benign	Het
H1f6	GAGAA	GA	13: 23,879,903 (GRCm39)		probably benign	Homo
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Het
H2-T10	TGTTTCCCACTG	T	17: 36,431,173 (GRCm39)		probably null	Het
Ifi203	C	T	1: 173,755,894 (GRCm39)		probably benign	Het
Ifi208	ATGGTG	ATG	1: 173,505,264 (GRCm39)		probably benign	Homo
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Homo
Il17rd	CGG	CGGTGG	14: 26,804,637 (GRCm39)		probably benign	Het
Il2	AGTGG	AGTGGGGCTTGAGGTGG	3: 37,179,975 (GRCm39)		probably benign	Het
Ipo9	TCC	TCCGCC	1: 135,314,013 (GRCm39)		probably benign	Het
Ipo9	CCT	CCTACT	1: 135,314,017 (GRCm39)		probably null	Het
Isg20l2	AAG	AAGCAG	3: 87,839,019 (GRCm39)		probably benign	Homo
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,788 (GRCm39)		probably benign	Het
Kmt2c	TGCTGCTG	TGCTGCTGCTGCTG	5: 25,520,764 (GRCm39)		probably benign	Homo
Krt10	CGCC	CGCCGCC	11: 99,277,025 (GRCm39)		probably benign	Het
Krt10	CCTCCT	CCTCCTACTCCT	11: 99,280,100 (GRCm39)		probably benign	Het
Las1l	GAG	GAGCAG	X: 94,984,426 (GRCm39)		probably benign	Het
Las1l	AGG	AGGCGG	X: 94,984,427 (GRCm39)		probably benign	Het
Lkaaear1	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCATCTCCAGCTCCAGCTCCAGCTCCA	2: 181,339,372 (GRCm39)		probably benign	Het
Lrch1	A	T	14: 75,057,005 (GRCm39)	C241S	possibly damaging	Het
Lrit3	G	GCTT	3: 129,582,468 (GRCm39)		probably benign	Het
Maml2	GCAGCAGCAACAGCAGCA	GCAGCAGCA	9: 13,532,755 (GRCm39)		probably benign	Homo
Mast4	T	TTTC	13: 102,871,370 (GRCm39)		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,183,403 (GRCm39)		probably benign	Het
Muc21	T	G	17: 35,933,013 (GRCm39)		probably benign	Homo
Noc2l	TGC	TGCAGC	4: 156,324,553 (GRCm39)		probably benign	Het
Nrg3	G	GACATTT	14: 38,119,230 (GRCm39)		probably benign	Homo
Or51q1	TCC	TCCC	7: 103,629,110 (GRCm39)		probably null	Het
Padi3	TCTCAC	TC	4: 140,520,283 (GRCm39)		probably benign	Homo
Patl2	GCT	GCTTCT	2: 121,956,616 (GRCm39)		probably benign	Het
Pdik1l	TTTT	TTTTGTTTTTGGTTT	4: 134,006,685 (GRCm39)		probably null	Homo
Pik3c2g	AG	AGAGGG	6: 139,612,654 (GRCm39)		probably null	Homo
Plekhs1	T	TTCAGACCTCCCC	19: 56,468,290 (GRCm39)		probably benign	Het
Prkd3	G	T	17: 79,283,249 (GRCm39)		probably null	Homo
Prkn	G	A	17: 12,073,650 (GRCm39)	V323M	probably damaging	Het
Prr13	TCC	TCCCCC	15: 102,370,612 (GRCm39)		probably benign	Homo
Prrc2b	G	A	2: 32,111,179 (GRCm39)	A1852T	probably damaging	Homo
Ptms	CTT	CTTTTT	6: 124,891,421 (GRCm39)		probably benign	Homo
Rtl1	TTCCTCTTCCTCCTC	TTCCTC	12: 109,557,632 (GRCm39)		probably benign	Homo
Scaf4	TGCGGC	TGC	16: 90,026,742 (GRCm39)		probably benign	Homo
Serac1	T	A	17: 6,121,083 (GRCm39)	K70N	probably damaging	Homo
Six3	CGG	CGGTGG	17: 85,928,796 (GRCm39)		probably benign	Het
Sry	GTG	GTGCTG	Y: 2,662,837 (GRCm39)		probably benign	Homo
Stard8	GGAAGA	GGAAGAAGA	X: 98,110,111 (GRCm39)		probably benign	Het
Supt20	TTCAGCA	TTCAGCATCAGCA	3: 54,635,068 (GRCm39)		probably benign	Het
Supt20	CAGCAG	CAGCAGTAGCAG	3: 54,635,085 (GRCm39)		probably null	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,635,083 (GRCm39)		probably benign	Het
Sytl1	CTCT	C	4: 132,984,304 (GRCm39)		probably benign	Homo
Tcof1	AGC	AGCGGC	18: 60,968,814 (GRCm39)		probably benign	Het
Tdpoz2	T	TCA	3: 93,558,922 (GRCm39)		probably null	Homo
Tert	GCC	GCCAAGGGTTCC	13: 73,796,421 (GRCm39)		probably benign	Homo
Tfeb	GCA	GCAACA	17: 48,097,019 (GRCm39)		probably benign	Het
Ticrr	ATT	ATTTTT	7: 79,344,059 (GRCm39)		probably benign	Homo
Tnfaip8	ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,179,906 (GRCm39)		probably null	Homo
Tnfrsf9	T	TGCC	4: 151,018,852 (GRCm39)		probably benign	Homo
Tob1	GCA	GCAACA	11: 94,105,290 (GRCm39)		probably benign	Het
Tob1	CA	CAGTA	11: 94,105,303 (GRCm39)		probably null	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,887,207 (GRCm39)		probably benign	Homo
Triobp	TCGTCG	TCGTCGTCG	15: 78,877,587 (GRCm39)		probably benign	Homo
Tsbp1	A	AGCC	17: 34,679,029 (GRCm39)		probably benign	Het
Tsbp1	GC	GCATC	17: 34,679,051 (GRCm39)		probably benign	Het
Tsen2	AGG	AGGGGG	6: 115,537,030 (GRCm39)		probably benign	Het
Ubtf	TCC	TCCGCC	11: 102,197,782 (GRCm39)		probably benign	Het
Ubtf	CTCGTCGTC	CTCGTCGTCGTC	11: 102,197,784 (GRCm39)		probably benign	Het
Vars1	TGG	TGGAGTCCTGGGCGG	17: 35,234,965 (GRCm39)		probably benign	Homo
Vmn1r171	C	T	7: 23,332,105 (GRCm39)	A110V	probably benign	Het
Vmn2r31	G	T	7: 7,387,607 (GRCm39)	Q655K	probably damaging	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Homo
Zc3h13	CG	CGAGATGTGTG	14: 75,561,050 (GRCm39)		probably benign	Het
Zc3h13	AGATGTGCG	AGATGTGCGGGATGTGCG	14: 75,561,043 (GRCm39)		probably benign	Het
Zfp282	GGC	GGCCGC	6: 47,881,731 (GRCm39)		probably benign	Het
Zfp384	AGGC	AGGCCCAGGCCCCGGC	6: 125,013,456 (GRCm39)		probably benign	Het
Zfp459	TGA	TGAGCGA	13: 67,556,393 (GRCm39)		probably null	Homo
Zfp462	GCCACC	GCCACCTCAGCCACAACCACC	4: 55,009,757 (GRCm39)		probably benign	Het
Zfp462	CCACC	CCACCTCAGCCACAGTCACC	4: 55,009,758 (GRCm39)		probably benign	Het
Zfp598	CACCAC	CACCACAACCAC	17: 24,899,749 (GRCm39)		probably benign	Het
Zfp831	CCT	CCTGCT	2: 174,487,274 (GRCm39)		probably benign	Het

Other mutations in Arpc1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01517:Arpc1b	APN	5	145,064,679 (GRCm39)	utr 3 prime	probably benign
IGL01625:Arpc1b	APN	5	145,058,555 (GRCm39)	splice site	probably null
IGL01859:Arpc1b	APN	5	145,060,540 (GRCm39)	missense	probably damaging	0.98
illusory	UTSW	5	145,059,377 (GRCm39)	missense	probably damaging	1.00
FR4340:Arpc1b	UTSW	5	145,063,602 (GRCm39)	frame shift	probably null
FR4737:Arpc1b	UTSW	5	145,063,597 (GRCm39)	frame shift	probably null
R0110:Arpc1b	UTSW	5	145,064,525 (GRCm39)	missense	probably damaging	1.00
R0245:Arpc1b	UTSW	5	145,063,670 (GRCm39)	missense	probably damaging	1.00
R0469:Arpc1b	UTSW	5	145,064,525 (GRCm39)	missense	probably damaging	1.00
R0652:Arpc1b	UTSW	5	145,063,670 (GRCm39)	missense	probably damaging	1.00
R0827:Arpc1b	UTSW	5	145,062,566 (GRCm39)	missense	probably benign	0.34
R1117:Arpc1b	UTSW	5	145,062,564 (GRCm39)	missense	possibly damaging	0.95
R1453:Arpc1b	UTSW	5	145,062,555 (GRCm39)	missense	probably damaging	1.00
R1895:Arpc1b	UTSW	5	145,059,443 (GRCm39)	missense	probably null	0.99
R1946:Arpc1b	UTSW	5	145,059,443 (GRCm39)	missense	probably null	0.99
R2050:Arpc1b	UTSW	5	145,062,729 (GRCm39)	missense	probably damaging	1.00
R2112:Arpc1b	UTSW	5	145,060,579 (GRCm39)	missense	probably damaging	0.99
R4924:Arpc1b	UTSW	5	145,063,625 (GRCm39)	missense	probably benign	0.02
R6534:Arpc1b	UTSW	5	145,059,377 (GRCm39)	missense	probably damaging	1.00
R6883:Arpc1b	UTSW	5	145,063,739 (GRCm39)	missense	probably benign	0.31
R8523:Arpc1b	UTSW	5	145,061,492 (GRCm39)	missense	probably damaging	1.00
R8854:Arpc1b	UTSW	5	145,060,405 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATCTAGGGTTAAGGTCTCTTGTCTC -3'
(R):5'- CCAGCTCTCAGAGTGGTTCTTAG -3'

Sequencing Primer
(F):5'- ATTTCCTGGTAGCCCTCAGAGG -3'
(R):5'- TTAGGTCTCTGGAAGCACCTGAC -3'

Posted On

2018-04-05