Mutagenetix > Incidental Mutation

Incidental Mutation 'R3924:Arpin'

307089

Institutional Source

Beutler Lab

Gene Symbol

Arpin

Ensembl Gene

ENSMUSG00000039043

Gene Name

actin-related protein 2/3 complex inhibitor

Synonyms

2610034B18Rik

MMRRC Submission

040915-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3924 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79575107-79585012 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79579435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 63 (Y63H)

Ref Sequence

ENSEMBL: ENSMUSP00000049440 (fasta)

Gene Model

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

AlphaFold

Q9D0A3

Predicted Effect

probably benign
Transcript: ENSMUST00000048731
AA Change: Y63H

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000049440
Gene: ENSMUSG00000039043
AA Change: Y63H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206403

Meta Mutation Damage Score

0.1433

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (39/40)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	G	T	9: 53,343,705 (GRCm39)	V119F	probably benign	Het
Agtpbp1	A	T	13: 59,648,221 (GRCm39)	V533D	probably benign	Het
Ahnak	G	A	19: 8,983,692 (GRCm39)	D1659N	probably benign	Het
Aldh3b3	A	G	19: 4,018,491 (GRCm39)	N402S	probably damaging	Het
Amn	T	C	12: 111,242,114 (GRCm39)	V367A	possibly damaging	Het
Brinp2	A	G	1: 158,073,778 (GRCm39)	L781P	probably damaging	Het
Cdkl1	G	T	12: 69,803,373 (GRCm39)	R168S	probably damaging	Het
Cfap43	T	C	19: 47,785,555 (GRCm39)	K445R	probably benign	Het
Csad	T	C	15: 102,086,991 (GRCm39)	S427G	probably benign	Het
Dach1	A	G	14: 98,153,339 (GRCm39)	V443A	probably damaging	Het
Dlat	A	G	9: 50,569,490 (GRCm39)	S160P	possibly damaging	Het
Dpf1	A	G	7: 29,011,098 (GRCm39)	R165G	possibly damaging	Het
Dtd2	G	C	12: 52,051,734 (GRCm39)		probably null	Het
Fa2h	A	G	8: 112,120,147 (GRCm39)	Y80H	probably damaging	Het
Flii	A	G	11: 60,610,902 (GRCm39)	F509S	probably damaging	Het
Fmo9	A	G	1: 166,492,221 (GRCm39)	S350P	probably benign	Het
Gabra4	A	G	5: 71,799,596 (GRCm39)		probably benign	Het
Gm3604	A	G	13: 62,518,044 (GRCm39)	S105P	probably damaging	Het
Gpr155	T	A	2: 73,200,420 (GRCm39)	L362F	probably damaging	Het
Lmbrd2	T	C	15: 9,149,624 (GRCm39)	V86A	probably benign	Het
Lpcat4	G	T	2: 112,077,061 (GRCm39)	Q468H	possibly damaging	Het
Luzp1	T	C	4: 136,270,168 (GRCm39)	I797T	probably damaging	Het
Myh8	A	T	11: 67,187,963 (GRCm39)	I912F	probably damaging	Het
Notch2	G	T	3: 98,029,350 (GRCm39)	G1038*	probably null	Het
Nptx1	G	T	11: 119,438,333 (GRCm39)	T28N	possibly damaging	Het
Onecut2	A	G	18: 64,474,591 (GRCm39)	K381E	probably damaging	Het
Or9i2	T	C	19: 13,816,130 (GRCm39)	T136A	probably damaging	Het
Plekha5	A	G	6: 140,516,105 (GRCm39)	N317S	possibly damaging	Het
Polr1a	A	G	6: 71,906,434 (GRCm39)	M417V	probably benign	Het
Ptpn13	T	C	5: 103,698,607 (GRCm39)		probably benign	Het
Qrfpr	T	C	3: 36,276,072 (GRCm39)	N106S	possibly damaging	Het
Rasd2	A	G	8: 75,948,602 (GRCm39)	N176S	probably damaging	Het
Rsbn1l	A	G	5: 21,124,785 (GRCm39)	V339A	probably damaging	Het
Ryr3	A	G	2: 112,859,048 (GRCm39)		probably benign	Het
Shkbp1	A	G	7: 27,041,827 (GRCm39)	W676R	probably benign	Het
Sipa1	G	A	19: 5,710,407 (GRCm39)	T201I	probably benign	Het
Slc35g2	A	T	9: 100,434,780 (GRCm39)	I297N	probably benign	Het
Usp28	T	C	9: 48,942,223 (GRCm39)		probably null	Het
Zfp946	G	T	17: 22,674,682 (GRCm39)	G479C	probably benign	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
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
R8367:Arpin	UTSW	7	79,579,386 (GRCm39)	missense	possibly damaging	0.95
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'- ATCCACTGTCAAGGACCTCAG -3'
(R):5'- GTATTTAAACGAGGCATCTGTCCAG -3'

Sequencing Primer
(F):5'- CTGTCAAGGACCTCAGGAGAC -3'
(R):5'- ATCTGTCCAGCCTATGCAGCAG -3'

Posted On

2015-04-17