Mutagenetix > Incidental Mutations

Incidental Mutation 'R8211:Arpin'

636165

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79925361-79935359 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 79935244 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000049440 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000048731
AA Change: M1L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049440
Gene: ENSMUSG00000039043
AA Change: M1L

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

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	A	G	5: 98,329,435	I28V	possibly damaging	Het
A330017A19Rik	A	G	17: 46,890,383		probably benign	Het
Adamtsl3	T	C	7: 82,523,163	S445P	probably damaging	Het
Afp	T	C	5: 90,501,486	I304T	possibly damaging	Het
Alk	G	A	17: 71,869,707	A1534V	probably benign	Het
Ank3	C	T	10: 69,867,398	P287L	unknown	Het
Appl1	T	C	14: 26,945,598	I367V	probably benign	Het
Aven	C	T	2: 112,559,775	R8W	probably benign	Het
B430203G13Rik	A	T	12: 17,924,539	H82L	noncoding transcript	Het
Bcl11a	T	A	11: 24,078,394	S2T	probably damaging	Het
Cfap46	T	A	7: 139,633,304	M1605L	unknown	Het
Chga	C	A	12: 102,561,419	Q111K	possibly damaging	Het
Drc7	A	G	8: 95,056,079	E24G	unknown	Het
Dst	T	C	1: 34,212,451	L2195P	probably damaging	Het
Enpp5	G	A	17: 44,081,511		probably null	Het
Fat2	A	G	11: 55,312,209	L13P	possibly damaging	Het
Grhl1	T	C	12: 24,586,152		probably null	Het
Ikbke	A	G	1: 131,271,778	I326T	probably damaging	Het
Krt26	C	T	11: 99,335,284	D195N	probably damaging	Het
Lamc2	A	T	1: 153,166,278	C37S	probably damaging	Het
Lrriq1	A	G	10: 103,170,547	L1239P	probably damaging	Het
Mrps5	T	A	2: 127,603,724	H390Q	probably benign	Het
Nphp3	T	A	9: 104,031,897	C769S	possibly damaging	Het
Obscn	A	G	11: 59,115,794	S1181P	probably damaging	Het
Olfr921	G	A	9: 38,775,281	V9M	noncoding transcript	Het
Pabpc6	G	T	17: 9,669,457	A55E	probably damaging	Het
Pcdha9	A	T	18: 36,998,859	E327V	possibly damaging	Het
Pds5b	A	G	5: 150,728,942	T225A	possibly damaging	Het
Pi4ka	A	C	16: 17,282,905	I1807S		Het
Pick1	T	A	15: 79,248,730	I330N	probably damaging	Het
Rbm46	C	T	3: 82,865,468	R119Q	probably benign	Het
Rubcn	A	C	16: 32,836,543	C502W	possibly damaging	Het
Slc26a10	G	A	10: 127,173,965	R571C	probably benign	Het
Slc44a2	A	T	9: 21,348,138	N587Y	probably damaging	Het
Slfn2	T	G	11: 83,069,759	V188G	possibly damaging	Het
Smok2b	T	C	17: 13,235,793	V280A	probably benign	Het
Snx19	A	G	9: 30,437,465	E798G	probably benign	Het
Sspo	T	C	6: 48,492,609		probably null	Het
Ugt2b37	T	C	5: 87,242,376	I404V	probably benign	Het
Vmn1r160	T	C	7: 22,871,326	F35L	possibly damaging	Het
Vmn1r193	A	T	13: 22,219,116	Y235*	probably null	Het
Vmn2r53	T	C	7: 12,581,916	I659V	probably benign	Het
Vmn2r91	A	G	17: 18,106,500	D349G	probably damaging	Het
Zfp292	A	T	4: 34,806,163	S2299T	probably benign	Het
Zfp938	T	C	10: 82,226,585	N67S	possibly 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
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
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'- GTGGACAGAGTACAACCCAC -3'
(R):5'- AAGGACAGTGGTCATTCCAAAAGC -3'

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

Posted On

2020-07-13