Mutagenetix > Incidental Mutation

Incidental Mutation 'R9582:Arpin'

722604

Institutional Source

Beutler Lab

Gene Symbol

Arpin

Ensembl Gene

ENSMUSG00000039043

Gene Name

actin-related protein 2/3 complex inhibitor

Synonyms

2610034B18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9582 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79575107-79585012 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to C at 79585038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000049440 (fasta)

Gene Model

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

AlphaFold

Q9D0A3

Predicted Effect

probably benign
Transcript: ENSMUST00000048731

SMART Domains

Protein: ENSMUSP00000049440
Gene: ENSMUSG00000039043

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,772,766 (GRCm39)	F652I	probably damaging	Het
Adam17	A	T	12: 21,386,665 (GRCm39)	I457K	probably benign	Het
Bhlhe40	A	G	6: 108,638,467 (GRCm39)	E51G	probably benign	Het
Ces1a	C	T	8: 93,766,156 (GRCm39)	D153N	probably benign	Het
Cog7	T	C	7: 121,536,200 (GRCm39)	M547V	probably benign	Het
Csrnp2	C	T	15: 100,386,067 (GRCm39)	R57K	possibly damaging	Het
Dact1	A	T	12: 71,365,619 (GRCm39)	K763M	probably damaging	Het
Ddost	A	T	4: 138,035,583 (GRCm39)	I101F	possibly damaging	Het
Dyrk1b	C	T	7: 27,882,028 (GRCm39)	R130W	probably damaging	Het
Ep400	A	C	5: 110,824,315 (GRCm39)		probably null	Het
Fam227a	A	G	15: 79,501,978 (GRCm39)	V532A	probably benign	Het
Flnc	C	A	6: 29,460,736 (GRCm39)	T2609K	probably damaging	Het
Gbp10	A	G	5: 105,372,256 (GRCm39)	V168A	probably benign	Het
Gp5	A	G	16: 30,127,057 (GRCm39)	V539A	probably benign	Het
H2-T13	T	A	17: 36,392,375 (GRCm39)	R33S	unknown	Het
Itih5	A	G	2: 10,195,013 (GRCm39)	E135G	probably benign	Het
L2hgdh	A	G	12: 69,739,172 (GRCm39)	V433A	probably benign	Het
Leng9	A	G	7: 4,152,263 (GRCm39)	S138P	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Ly6g6e	T	C	17: 35,296,159 (GRCm39)	V10A	probably benign	Het
Lypla1	C	T	1: 4,911,248 (GRCm39)	P178S	probably benign	Het
Mark1	A	G	1: 184,651,858 (GRCm39)	F216L	possibly damaging	Het
Mertk	G	A	2: 128,624,527 (GRCm39)	R646Q	possibly damaging	Het
Mmp9	A	C	2: 164,791,235 (GRCm39)	D135A	probably benign	Het
Nefl	A	G	14: 68,324,849 (GRCm39)	K529E	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nwd1	A	G	8: 73,421,917 (GRCm39)	T988A	probably damaging	Het
P4ha2	T	A	11: 54,022,065 (GRCm39)	C529*	probably null	Het
Pcdhb4	T	A	18: 37,441,417 (GRCm39)	F242L	probably damaging	Het
Pced1b	A	G	15: 97,282,450 (GRCm39)	N163S	probably damaging	Het
Pde8b	A	G	13: 95,169,369 (GRCm39)	V585A	probably damaging	Het
Pknox2	T	A	9: 36,804,252 (GRCm39)	T432S	probably damaging	Het
Rad18	A	G	6: 112,658,298 (GRCm39)		probably null	Het
Rpgrip1l	C	T	8: 91,996,886 (GRCm39)	V665I	probably benign	Het
Rreb1	A	G	13: 38,114,734 (GRCm39)	I698V	probably benign	Het
Schip1	TCTGGCC	TC	3: 68,525,060 (GRCm39)		probably null	Het
Slc2a4	C	T	11: 69,837,450 (GRCm39)	V32M	probably damaging	Het
Slc40a1	A	G	1: 45,950,499 (GRCm39)	Y318H	probably damaging	Het
Spag16	A	G	1: 69,897,717 (GRCm39)	T156A	probably benign	Het
Srebf1	C	A	11: 60,097,868 (GRCm39)	A103S	probably benign	Het
Sspn	C	T	6: 145,899,334 (GRCm39)		probably benign	Het
Stoml2	A	T	4: 43,030,238 (GRCm39)		probably null	Het
Stra6	T	A	9: 58,054,770 (GRCm39)	V319E	probably damaging	Het
Syt7	T	C	19: 10,416,780 (GRCm39)	F414L	probably damaging	Het
Tet3	G	T	6: 83,381,226 (GRCm39)	P314Q	probably damaging	Het
Tnrc18	A	T	5: 142,757,128 (GRCm39)	L1313Q		Het
Topors	A	T	4: 40,260,460 (GRCm39)	D941E	unknown	Het
Txnip	T	A	3: 96,465,659 (GRCm39)	C36*	probably null	Het
Uba3	A	T	6: 97,168,491 (GRCm39)	M178K	probably damaging	Het
Vmn1r6	A	G	6: 56,979,925 (GRCm39)	T196A	probably benign	Het
Vwc2	T	A	11: 11,066,129 (GRCm39)	S72R	probably benign	Het
Wnk2	A	G	13: 49,210,975 (GRCm39)	S1627P	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
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
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
R9700:Arpin	UTSW	7	79,578,015 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGTCCACATCTGGCTAACAATG -3'
(R):5'- TGGTCATTCCAAAAGCCCC -3'

Sequencing Primer
(F):5'- GAAAGTGCAACCCATCTCTGG -3'
(R):5'- CCTGTTACTGCACGAGGTCTG -3'

Posted On

2022-08-09