Mutagenetix > Incidental Mutations

Incidental Mutation 'R5287:Arpin'

424406

Institutional Source

Beutler Lab

Gene Symbol

Arpin

Ensembl Gene

ENSMUSG00000039043

Gene Name

actin-related protein 2/3 complex inhibitor

Synonyms

2610034B18Rik

MMRRC Submission

042871-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5287 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79925361-79935359 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79928249 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 144 (E144G)

Ref Sequence

ENSEMBL: ENSMUSP00000049440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048731]

Predicted Effect

probably damaging
Transcript: ENSMUST00000048731
AA Change: E144G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049440
Gene: ENSMUSG00000039043
AA Change: E144G

Domain	Start	End	E-Value	Type
Pfam:UPF0552	1	224	4e-110	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206403

Meta Mutation Damage Score

0.5303

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	G	T	17: 56,876,221		probably benign	Het
Accs	T	C	2: 93,835,953	D463G	probably damaging	Het
Adcy8	C	T	15: 64,716,152	V929I	probably benign	Het
Anp32a	A	T	9: 62,341,993	I16F	possibly damaging	Het
Asb18	T	C	1: 90,014,388	T64A	probably benign	Het
Asxl2	A	G	12: 3,496,893	N559S	probably benign	Het
Brd7	G	T	8: 88,357,541	Q148K	probably damaging	Het
Brinp1	A	G	4: 68,792,964	W336R	probably benign	Het
Btnl9	A	G	11: 49,169,607	V438A	probably benign	Het
Cat	T	C	2: 103,474,360	T107A	probably damaging	Het
Catsperg2	T	C	7: 29,697,838	Y1080C	possibly damaging	Het
Ccdc138	T	A	10: 58,575,705	F632I	possibly damaging	Het
Cd46	C	T	1: 195,062,411	V340I	possibly damaging	Het
Celf1	T	C	2: 91,009,207	S326P	possibly damaging	Het
Ces1e	T	G	8: 93,208,612	D404A	probably benign	Het
Chd3	A	T	11: 69,349,069		probably null	Het
Clhc1	A	G	11: 29,578,244		probably benign	Het
Cops8	C	T	1: 90,606,620		probably benign	Het
Cpox	G	A	16: 58,675,286	G322D	probably damaging	Het
Csmd2	C	T	4: 128,486,884	R2078C	probably benign	Het
Dnm1l	A	C	16: 16,333,868	V240G	probably damaging	Het
Fam109a	A	G	5: 121,852,731	E52G	possibly damaging	Het
Fam196b	A	T	11: 34,403,058	T367S	probably benign	Het
Fam208b	G	A	13: 3,575,744	S1402L	probably benign	Het
Fezf1	C	T	6: 23,248,011	V22M	probably benign	Het
Gm6818	T	G	7: 38,400,487		noncoding transcript	Het
Hand2	C	T	8: 57,322,045	L47F	probably damaging	Het
Itga7	C	A	10: 128,943,158	R351S	probably benign	Het
Mmp8	G	T	9: 7,567,506	A456S	probably benign	Het
Mroh5	TGGAG	TG	15: 73,783,074		probably benign	Het
Olfr1416	A	T	1: 92,480,297	V108E	possibly damaging	Het
Opn4	T	C	14: 34,592,937	T460A	probably benign	Het
Otog	T	C	7: 46,269,329	F943S	probably damaging	Het
Pcnx	A	T	12: 81,982,051	Y1668F	probably damaging	Het
Phf24	A	T	4: 42,933,831		probably null	Het
Phkg2	GCTGCCGGACGAGTGGCCT	GCT	7: 127,582,757		probably null	Het
Ppargc1a	G	A	5: 51,462,825		probably benign	Het
Ptprd	G	A	4: 75,954,168	R1355*	probably null	Het
Ptprn2	A	T	12: 117,211,862	M721L	probably damaging	Het
Sec23ip	A	G	7: 128,766,136	E624G	probably benign	Het
Sfmbt1	G	A	14: 30,816,820	V799M	probably damaging	Het
Snrnp200	T	C	2: 127,231,687	V1335A	probably benign	Het
Sp140	G	A	1: 85,610,824		probably null	Het
Spdye4c	T	C	2: 128,592,640	S46P	possibly damaging	Het
Syde1	T	C	10: 78,590,037	R99G	probably benign	Het
T2	A	T	17: 8,418,003	M57L	probably benign	Het
Tfap2e	T	C	4: 126,734,646	I172M	probably benign	Het
Tk1	A	T	11: 117,816,541	V140E	probably damaging	Het
Tln2	G	A	9: 67,242,359	T1192M	probably damaging	Het
Tmed8	C	A	12: 87,174,183	A210S	probably damaging	Het
Tnip2	A	G	5: 34,513,764	L45P	probably damaging	Het
Ttc3	T	C	16: 94,459,844	V1396A	probably benign	Het
Ttn	G	T	2: 76,732,092	S28803Y	probably damaging	Het
Wdr90	A	T	17: 25,861,467		probably benign	Het
Zfp7	G	A	15: 76,891,222	R488Q	probably damaging	Het

Other mutations in Arpin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Arpin	APN	7	79927675	missense	probably benign	0.00
IGL01393:Arpin	APN	7	79931840	missense	possibly damaging	0.51
IGL02127:Arpin	APN	7	79928193	missense	probably benign	0.01
IGL02553:Arpin	APN	7	79927647	missense	possibly damaging	0.71
R2350:Arpin	UTSW	7	79931805	nonsense	probably null
R3821:Arpin	UTSW	7	79929660	missense	probably damaging	1.00
R3924:Arpin	UTSW	7	79929687	missense	probably benign	0.02
R6353:Arpin	UTSW	7	79935345	start gained	probably benign
R7871:Arpin	UTSW	7	79927715	missense	probably damaging	1.00
R8211:Arpin	UTSW	7	79935244	start codon destroyed	probably damaging	1.00
R8350:Arpin	UTSW	7	79931867	missense	possibly damaging	0.96
R8367:Arpin	UTSW	7	79929638	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCACAGGTCATGTCCCATGG -3'
(R):5'- GCTCCTGAAGATCCTCAGAGAATG -3'

Sequencing Primer
(F):5'- AGGTCATGTCCCATGGGAGAC -3'
(R):5'- AGAATGTTTCTCCTCCGGGAACAC -3'

Posted On

2016-08-04