Mutagenetix > Incidental Mutation

Incidental Mutation 'R8367:Arpin'

646213

Institutional Source

Beutler Lab

Gene Symbol

Arpin

Ensembl Gene

ENSMUSG00000039043

Gene Name

actin-related protein 2/3 complex inhibitor

Synonyms

2610034B18Rik

MMRRC Submission

067874-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8367 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79575107-79585012 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79579386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 79 (N79I)

Ref Sequence

ENSEMBL: ENSMUSP00000049440 (fasta)

Gene Model

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

AlphaFold

Q9D0A3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048731
AA Change: N79I

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049440
Gene: ENSMUSG00000039043
AA Change: N79I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	G	A	2: 152,284,417 (GRCm39)		probably null	Het
8030423J24Rik	A	T	13: 71,032,096 (GRCm39)	E56V	unknown	Het
Abcb1a	A	G	5: 8,736,221 (GRCm39)	T205A	probably benign	Het
Aplp2	T	C	9: 31,089,202 (GRCm39)	E93G	probably damaging	Het
Atg7	T	A	6: 114,663,060 (GRCm39)	D225E	probably benign	Het
Bltp3b	T	A	10: 89,641,239 (GRCm39)	D803E	probably damaging	Het
Cc2d2b	A	G	19: 40,754,419 (GRCm39)	M229V	unknown	Het
Cep295	C	T	9: 15,245,826 (GRCm39)	V877I	probably benign	Het
Clca3a2	A	T	3: 144,523,508 (GRCm39)		probably null	Het
Cmip	C	T	8: 118,163,610 (GRCm39)	P359L	probably benign	Het
Cyb5rl	A	G	4: 106,928,146 (GRCm39)	Y94C	probably benign	Het
Cyp19a1	A	G	9: 54,087,543 (GRCm39)	I125T	probably damaging	Het
Cyp2c54	T	G	19: 40,062,125 (GRCm39)	Q44P	probably damaging	Het
Cyp2c67	A	T	19: 39,627,118 (GRCm39)	H237Q	probably benign	Het
Dlgap2	A	T	8: 14,893,544 (GRCm39)	Y953F	probably benign	Het
Hgfac	G	T	5: 35,202,790 (GRCm39)	C430F	probably damaging	Het
Kdm4b	T	C	17: 56,662,875 (GRCm39)	W149R	probably damaging	Het
Krt23	C	T	11: 99,383,715 (GRCm39)	W59*	probably null	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Lrrc7	T	A	3: 157,908,007 (GRCm39)	Q271L	possibly damaging	Het
Ltc4s	C	A	11: 50,127,511 (GRCm39)	R108L	possibly damaging	Het
Mcm3ap	T	C	10: 76,313,693 (GRCm39)	S596P	possibly damaging	Het
Myot	A	G	18: 44,470,166 (GRCm39)	T48A	probably benign	Het
Mypn	G	C	10: 62,971,539 (GRCm39)	P834A	probably damaging	Het
Or5d16	T	C	2: 87,773,441 (GRCm39)	N177S	possibly damaging	Het
Or8k30	C	T	2: 86,339,025 (GRCm39)	S74L	probably damaging	Het
Parp14	T	C	16: 35,678,124 (GRCm39)	K615E	probably benign	Het
Pramel6	A	C	2: 87,340,814 (GRCm39)	Q382P	probably damaging	Het
Prdx2	A	G	8: 85,698,244 (GRCm39)	D145G	probably damaging	Het
Prune1	A	G	3: 95,172,837 (GRCm39)	V76A	probably benign	Het
Sppl2b	A	T	10: 80,699,025 (GRCm39)	H198L	probably benign	Het
Ttll9	C	A	2: 152,836,068 (GRCm39)	H271N	probably benign	Het
Vmn2r59	C	A	7: 41,661,247 (GRCm39)	R856M	probably benign	Het
Yeats2	C	T	16: 20,041,575 (GRCm39)	T1155I	probably damaging	Het
Zbbx	A	G	3: 74,989,034 (GRCm39)		probably null	Het
Zfp160	A	G	17: 21,245,804 (GRCm39)	D118G	probably benign	Het
Zfp366	A	G	13: 99,380,551 (GRCm39)	M549V	possibly damaging	Het
Zp3r	A	G	1: 130,526,610 (GRCm39)	S198P	probably damaging	Het

Other mutations in Arpin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Arpin	APN	7	79,577,423 (GRCm39)	missense	probably benign	0.00
IGL01393:Arpin	APN	7	79,581,588 (GRCm39)	missense	possibly damaging	0.51
IGL02127:Arpin	APN	7	79,577,941 (GRCm39)	missense	probably benign	0.01
IGL02553:Arpin	APN	7	79,577,395 (GRCm39)	missense	possibly damaging	0.71
R2350:Arpin	UTSW	7	79,581,553 (GRCm39)	nonsense	probably null
R3821:Arpin	UTSW	7	79,579,408 (GRCm39)	missense	probably damaging	1.00
R3924:Arpin	UTSW	7	79,579,435 (GRCm39)	missense	probably benign	0.02
R5287:Arpin	UTSW	7	79,577,997 (GRCm39)	missense	probably damaging	1.00
R6353:Arpin	UTSW	7	79,585,093 (GRCm39)	start gained	probably benign
R7871:Arpin	UTSW	7	79,577,463 (GRCm39)	missense	probably damaging	1.00
R8211:Arpin	UTSW	7	79,584,992 (GRCm39)	start codon destroyed	probably damaging	1.00
R8350:Arpin	UTSW	7	79,581,615 (GRCm39)	missense	possibly damaging	0.96
R9344:Arpin	UTSW	7	79,577,983 (GRCm39)	missense	probably benign	0.10
R9488:Arpin	UTSW	7	79,584,979 (GRCm39)	missense	probably damaging	1.00
R9582:Arpin	UTSW	7	79,585,038 (GRCm39)	start gained	probably benign
R9700:Arpin	UTSW	7	79,578,015 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGCCAAGTTATGCTAAGAATCCACTG -3'
(R):5'- ATCTGTCCAGCCTATGCAGC -3'

Sequencing Primer
(F):5'- TGCTAAGAATCCACTGTCAAGG -3'
(R):5'- CAGCCTATGCAGCAGGGTAG -3'

Posted On

2020-09-02