Mutagenetix > Incidental Mutations

Incidental Mutation 'R2350:Arpin'

246061

Institutional Source

Beutler Lab

Gene Symbol

Arpin

Ensembl Gene

ENSMUSG00000039043

Gene Name

actin-related protein 2/3 complex inhibitor

Synonyms

2610034B18Rik

MMRRC Submission

040332-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2350 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79925361-79935359 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 79931805 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 56 (K56*)

Ref Sequence

ENSEMBL: ENSMUSP00000049440 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000048731
AA Change: K56*

SMART Domains

Protein: ENSMUSP00000049440
Gene: ENSMUSG00000039043
AA Change: K56*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	C	6: 121,678,088		probably benign	Het
Adam12	T	C	7: 133,919,524	T312A	probably damaging	Het
Adamts20	C	T	15: 94,283,916	C1632Y	probably damaging	Het
Ago2	T	C	15: 73,119,461	M543V	probably benign	Het
Alpk3	T	C	7: 81,094,970	L1271P	probably damaging	Het
Ccdc138	G	T	10: 58,561,893		probably benign	Het
Ccdc63	A	T	5: 122,122,885	M192K	probably benign	Het
Cldn12	A	T	5: 5,507,845	V194D	possibly damaging	Het
Cntnap5b	T	C	1: 100,379,126	L485P	probably damaging	Het
Cpne7	A	G	8: 123,124,469	D165G	probably damaging	Het
Cyp2j6	A	T	4: 96,529,408	M326K	probably damaging	Het
D630003M21Rik	T	A	2: 158,201,011	T870S	probably damaging	Het
Dennd2c	A	G	3: 103,132,001	D155G	probably benign	Het
Dnah3	A	T	7: 120,045,788		probably null	Het
Dqx1	T	A	6: 83,059,087	C133*	probably null	Het
Fam234b	T	A	6: 135,231,724	V545E	probably damaging	Het
Flcn	T	C	11: 59,792,659	H564R	probably damaging	Het
Gsdmc4	T	A	15: 63,893,165	H348L	probably benign	Het
Gucy2c	G	T	6: 136,763,074	P252T	probably damaging	Het
Insl6	T	A	19: 29,325,245	E24V	possibly damaging	Het
Irx1	T	A	13: 71,960,048	T172S	probably damaging	Het
Mocos	C	T	18: 24,666,656		probably benign	Het
Myom2	T	C	8: 15,108,835	V837A	probably benign	Het
Nfatc2ip	T	C	7: 126,395,998	N126S	probably benign	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Npepl1	T	C	2: 174,111,773	S166P	probably benign	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr867	G	T	9: 20,055,088	A125D	probably damaging	Het
Otop2	T	G	11: 115,326,850	C171G	probably damaging	Het
Parpbp	C	A	10: 88,133,088		probably benign	Het
Pcdhb20	T	A	18: 37,504,510	S30T	probably benign	Het
Phkg1	A	T	5: 129,864,532	V359E	probably damaging	Het
Ppp2cb	A	G	8: 33,611,827	D131G	probably null	Het
Scn9a	A	G	2: 66,504,968	Y1226H	probably damaging	Het
Unc5b	A	G	10: 60,778,200	F290S	probably benign	Het
Vmn1r71	A	G	7: 10,747,919	F215L	probably benign	Het
Vmn2r101	T	C	17: 19,589,783	V277A	probably benign	Het
Vmn2r6	T	C	3: 64,556,352	S354G	probably benign	Het
Zfp292	A	T	4: 34,811,281	S588T	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
R3821:Arpin	UTSW	7	79929660	missense	probably damaging	1.00
R3924:Arpin	UTSW	7	79929687	missense	probably benign	0.02
R5287:Arpin	UTSW	7	79928249	missense	probably damaging	1.00
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'- TGCAAGAACCATGTAGTCCCTC -3'
(R):5'- TTCCAGGCCTTCTCAGAGAC -3'

Sequencing Primer
(F):5'- AAGAACCATGTAGTCCCTCTCATCTG -3'
(R):5'- CCTTCTCAGAGACAGGTGACAAG -3'

Posted On

2014-10-30