Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03379:Arrdc5'

420608

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arrdc5

Ensembl Gene

ENSMUSG00000073380

Gene Name

arrestin domain containing 5

Synonyms

1700013E09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03379

Quality Score

Status

Chromosome

Chromosomal Location

56601111-56607262 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 56601589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 179 (Q179*)

Ref Sequence

ENSEMBL: ENSMUSP00000094906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019726] [ENSMUST00000097303]

AlphaFold

Q497K5

Predicted Effect

probably benign
Transcript: ENSMUST00000019726

SMART Domains

Protein: ENSMUSP00000019726
Gene: ENSMUSG00000024197

Domain	Start	End	E-Value	Type
Pfam:Perilipin	19	415	1.5e-166	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000097303
AA Change: Q179*

SMART Domains

Protein: ENSMUSP00000094906
Gene: ENSMUSG00000073380
AA Change: Q179*

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	7	144	3.3e-21	PFAM
Arrestin_C	170	307	7.47e-19	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	A	G	10: 69,809,602 (GRCm39)	T260A	probably damaging	Het
Arhgap21	A	G	2: 20,885,500 (GRCm39)	V559A	probably benign	Het
Atrnl1	T	C	19: 57,630,973 (GRCm39)	Y247H	probably benign	Het
Bend5	T	A	4: 111,311,468 (GRCm39)	S361T	probably benign	Het
Cdc20b	A	G	13: 113,217,736 (GRCm39)	D385G	probably damaging	Het
Cep120	C	T	18: 53,842,208 (GRCm39)	S709N	probably benign	Het
Eif2b4	A	G	5: 31,347,355 (GRCm39)		probably benign	Het
Eif2s1	T	A	12: 78,913,354 (GRCm39)	D18E	probably benign	Het
Etl4	G	A	2: 20,666,827 (GRCm39)	S209N	possibly damaging	Het
Farp2	T	A	1: 93,535,160 (GRCm39)	F636L	probably benign	Het
Fcgbp	A	T	7: 27,789,342 (GRCm39)	D636V	possibly damaging	Het
Gm5082	T	C	13: 41,809,902 (GRCm39)		noncoding transcript	Het
Gtf2ird1	C	T	5: 134,411,392 (GRCm39)	G672D	possibly damaging	Het
Heatr3	A	G	8: 88,876,738 (GRCm39)	K143R	probably benign	Het
Hrc	A	G	7: 44,986,679 (GRCm39)	E610G	probably benign	Het
Ica1l	G	A	1: 60,036,780 (GRCm39)	S337F	probably benign	Het
Ighv1-43	T	C	12: 114,909,625 (GRCm39)	Y99C	probably benign	Het
Kcna3	T	A	3: 106,944,521 (GRCm39)	F261L	probably benign	Het
Kdm4d	T	C	9: 14,375,139 (GRCm39)	R240G	probably damaging	Het
Kidins220	T	A	12: 25,058,447 (GRCm39)	I620N	probably damaging	Het
Kif5c	A	G	2: 49,591,104 (GRCm39)	M55V	probably damaging	Het
Oas1a	A	T	5: 121,035,062 (GRCm39)	L366Q	possibly damaging	Het
Or5p68	T	C	7: 107,946,196 (GRCm39)		probably benign	Het
Pds5b	T	C	5: 150,711,796 (GRCm39)	V918A	probably damaging	Het
Plcz1	G	A	6: 139,936,490 (GRCm39)	L580F	possibly damaging	Het
Prlr	C	A	15: 10,319,403 (GRCm39)	P147T	possibly damaging	Het
Ptpn18	A	T	1: 34,509,338 (GRCm39)		probably null	Het
Ptprt	A	T	2: 161,397,379 (GRCm39)	C1109*	probably null	Het
Ralgapa2	A	T	2: 146,199,907 (GRCm39)	S1212R	probably benign	Het
Scn2b	T	A	9: 45,037,498 (GRCm39)	C182S	probably damaging	Het
Slc7a14	A	T	3: 31,277,664 (GRCm39)	M647K	probably damaging	Het
Sult2a6	G	A	7: 13,956,511 (GRCm39)	T250I	probably benign	Het
Syn3	A	T	10: 85,900,736 (GRCm39)	M384K	possibly damaging	Het
Tmem8b	A	G	4: 43,685,561 (GRCm39)	T596A	probably benign	Het
Tnpo1	C	T	13: 99,000,348 (GRCm39)	E340K	probably damaging	Het
Vat1l	A	T	8: 115,009,006 (GRCm39)	I247F	probably damaging	Het
Vmn2r110	T	C	17: 20,803,906 (GRCm39)	D223G	probably damaging	Het
Wdr11	T	A	7: 129,200,847 (GRCm39)	D99E	probably damaging	Het
Zan	C	T	5: 137,462,477 (GRCm39)	V901I	unknown	Het

Other mutations in Arrdc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Arrdc5	APN	17	56,601,262 (GRCm39)	missense	probably damaging	1.00
IGL01830:Arrdc5	APN	17	56,601,652 (GRCm39)	missense	probably damaging	0.99
IGL01861:Arrdc5	APN	17	56,607,144 (GRCm39)	missense	possibly damaging	0.78
IGL02210:Arrdc5	APN	17	56,607,026 (GRCm39)	missense	probably damaging	1.00
R0256:Arrdc5	UTSW	17	56,601,382 (GRCm39)	missense	probably damaging	0.99
R0638:Arrdc5	UTSW	17	56,607,020 (GRCm39)	missense	possibly damaging	0.94
R1491:Arrdc5	UTSW	17	56,601,222 (GRCm39)	missense	probably damaging	0.99
R1672:Arrdc5	UTSW	17	56,607,144 (GRCm39)	missense	possibly damaging	0.78
R2094:Arrdc5	UTSW	17	56,604,856 (GRCm39)	missense	probably benign	0.44
R4326:Arrdc5	UTSW	17	56,601,420 (GRCm39)	missense	possibly damaging	0.92
R4327:Arrdc5	UTSW	17	56,601,420 (GRCm39)	missense	possibly damaging	0.92
R5254:Arrdc5	UTSW	17	56,604,897 (GRCm39)	missense	probably benign	0.19
R5363:Arrdc5	UTSW	17	56,607,138 (GRCm39)	missense	probably damaging	0.99
R5610:Arrdc5	UTSW	17	56,604,846 (GRCm39)	missense	probably benign
R5740:Arrdc5	UTSW	17	56,604,838 (GRCm39)	missense	probably benign	0.39
R6054:Arrdc5	UTSW	17	56,601,420 (GRCm39)	missense	possibly damaging	0.92
R7101:Arrdc5	UTSW	17	56,601,522 (GRCm39)	missense	probably damaging	1.00
R7439:Arrdc5	UTSW	17	56,604,931 (GRCm39)	missense	probably benign	0.05
R8878:Arrdc5	UTSW	17	56,601,342 (GRCm39)	missense	probably benign	0.00
Z1176:Arrdc5	UTSW	17	56,607,189 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02