Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00427:Arpin'

6285

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arpin

Ensembl Gene

ENSMUSG00000039043

Gene Name

actin-related protein 2/3 complex inhibitor

Synonyms

2610034B18Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00427

Quality Score

Status

Chromosome

Chromosomal Location

79925361-79935359 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79927675 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 208 (N208I)

Ref Sequence

ENSEMBL: ENSMUSP00000049440 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000048731
AA Change: N208I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000049440
Gene: ENSMUSG00000039043
AA Change: N208I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206403

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	A	G	12: 4,194,357	D289G	probably damaging	Het
Adnp	C	T	2: 168,182,562	D938N	probably benign	Het
Cby3	A	G	11: 50,357,811		probably benign	Het
Cnih4	T	A	1: 181,153,747	S28T	probably damaging	Het
D130052B06Rik	G	T	11: 33,623,558	V97L	possibly damaging	Het
Dchs1	T	C	7: 105,758,424	E2067G	probably damaging	Het
Dennd6a	C	T	14: 26,608,613	T113I	probably damaging	Het
Dock4	T	A	12: 40,832,306	F1590L	possibly damaging	Het
Dopey1	G	T	9: 86,521,500	Q1582H	probably benign	Het
Dopey1	C	A	9: 86,521,498	Q1582K	possibly damaging	Het
Dopey1	A	T	9: 86,521,499	Q1582L	probably damaging	Het
Ebna1bp2	A	T	4: 118,625,821	K291M	probably damaging	Het
Evpl	G	T	11: 116,234,505	Q73K	probably benign	Het
Fam131b	G	T	6: 42,318,961	T139K	probably damaging	Het
Gm10704	A	C	3: 88,576,923		probably benign	Het
Golga3	A	G	5: 110,220,887	T1358A	probably damaging	Het
Gpr1	A	T	1: 63,183,338	I246N	probably damaging	Het
Hgf	G	A	5: 16,578,486	D265N	probably benign	Het
Homer1	A	G	13: 93,402,114	N333S	probably benign	Het
Igkv17-134	A	T	6: 67,720,984		probably benign	Het
Il16	T	C	7: 83,652,458	D152G	probably benign	Het
Ireb2	T	C	9: 54,899,482		probably benign	Het
Itgb2	C	T	10: 77,557,956	T410I	probably benign	Het
Kctd14	C	A	7: 97,457,712	A111E	possibly damaging	Het
Lmod3	A	C	6: 97,252,297	V92G	probably damaging	Het
Lmtk2	A	G	5: 144,134,155	D83G	probably damaging	Het
Myh1	A	G	11: 67,220,865	E1682G	probably damaging	Het
Myo9a	T	A	9: 59,843,059		probably benign	Het
Nlrc4	T	C	17: 74,447,092	N99D	probably benign	Het
P2rx3	A	G	2: 85,035,272	Y10H	probably damaging	Het
Pcsk7	C	A	9: 45,927,660	D623E	probably benign	Het
Plxna1	A	G	6: 89,320,998	I1766T	probably damaging	Het
Ptk7	T	C	17: 46,574,427	Y691C	probably damaging	Het
Rec8	A	T	14: 55,618,651	T17S	probably damaging	Het
Ryr1	T	C	7: 29,104,737		probably benign	Het
Scg3	T	G	9: 75,663,237	K345T	probably damaging	Het
Serpina3b	A	T	12: 104,132,941	K238N	probably benign	Het
Slc38a9	T	A	13: 112,701,618	S306T	probably damaging	Het
Txndc16	A	G	14: 45,145,090		probably benign	Het
Vmn1r238	T	A	18: 3,123,243	Y57F	probably benign	Het
Vmn2r104	A	T	17: 20,038,239	S548T	probably damaging	Het
Xrcc1	T	A	7: 24,547,884		probably null	Het

Other mutations in Arpin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8211:Arpin	UTSW	7	79935244	start codon destroyed	probably damaging	1.00
R8350:Arpin	UTSW	7	79931867
R8367:Arpin	UTSW	7	79929638	missense	possibly damaging	0.95

Posted On

2012-04-20