Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02210:Arrdc5'

284666

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 #

IGL02210

Quality Score

Status

Chromosome

Chromosomal Location

56601111-56607262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56607026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 73 (D73G)

Ref Sequence

ENSEMBL: ENSMUSP00000094906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001258] [ENSMUST00000097303] [ENSMUST00000113035] [ENSMUST00000113038] [ENSMUST00000113039] [ENSMUST00000142387]

AlphaFold

Q497K5

Predicted Effect

probably benign
Transcript: ENSMUST00000001258

SMART Domains

Protein: ENSMUSP00000001258
Gene: ENSMUSG00000001228

Domain	Start	End	E-Value	Type
UBQ	1	74	9.37e-10	SMART
Pfam:DUF3590	136	232	1.1e-42	PFAM
PHD	322	369	6.39e-12	SMART
RING	323	368	1.09e0	SMART
low complexity region	381	398	N/A	INTRINSIC
SRA	419	590	8.5e-113	SMART
low complexity region	635	653	N/A	INTRINSIC
RING	713	751	8.43e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000097303
AA Change: D73G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000094906
Gene: ENSMUSG00000073380
AA Change: D73G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113035

SMART Domains

Protein: ENSMUSP00000108658
Gene: ENSMUSG00000001228

Domain	Start	End	E-Value	Type
UBQ	1	74	9.37e-10	SMART
Pfam:DUF3590	136	232	1.1e-42	PFAM
PHD	314	361	6.39e-12	SMART
RING	315	360	1.09e0	SMART
low complexity region	373	390	N/A	INTRINSIC
SRA	411	582	8.5e-113	SMART
low complexity region	627	645	N/A	INTRINSIC
RING	705	743	8.43e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113038

SMART Domains

Protein: ENSMUSP00000108661
Gene: ENSMUSG00000001228

Domain	Start	End	E-Value	Type
UBQ	1	74	9.37e-10	SMART
Pfam:DUF3590	136	232	1.1e-42	PFAM
PHD	314	361	6.39e-12	SMART
RING	315	360	1.09e0	SMART
low complexity region	373	390	N/A	INTRINSIC
SRA	411	582	8.5e-113	SMART
low complexity region	627	645	N/A	INTRINSIC
RING	705	743	8.43e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113039

SMART Domains

Protein: ENSMUSP00000108662
Gene: ENSMUSG00000001228

Domain	Start	End	E-Value	Type
UBQ	1	74	9.37e-10	SMART
Pfam:TTD	128	281	8e-61	PFAM
PHD	322	369	6.39e-12	SMART
RING	323	368	1.09e0	SMART
low complexity region	381	398	N/A	INTRINSIC
SRA	419	590	8.5e-113	SMART
low complexity region	635	653	N/A	INTRINSIC
RING	713	751	8.43e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142387

SMART Domains

Protein: ENSMUSP00000125830
Gene: ENSMUSG00000001228

Domain	Start	End	E-Value	Type
UBQ	1	74	9.37e-10	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,633,097 (GRCm39)	F215S	probably damaging	Het
Acvr2a	A	T	2: 48,788,538 (GRCm39)	H422L	probably damaging	Het
Adcy6	T	C	15: 98,492,852 (GRCm39)	Y908C	possibly damaging	Het
Alyref	A	C	11: 120,488,499 (GRCm39)	S110A	possibly damaging	Het
Ankrd1	T	C	19: 36,095,714 (GRCm39)	D86G	probably damaging	Het
Anpep	T	A	7: 79,476,652 (GRCm39)	Y29F	probably benign	Het
Appl1	T	C	14: 26,647,909 (GRCm39)		probably benign	Het
Atp12a	T	A	14: 56,609,201 (GRCm39)	Y142*	probably null	Het
Clec4a3	T	A	6: 122,931,067 (GRCm39)	I52N	probably damaging	Het
Cmya5	G	A	13: 93,229,242 (GRCm39)	P1949S	probably benign	Het
Crybb2	T	A	5: 113,206,253 (GRCm39)	Q194L	probably damaging	Het
Dmxl2	A	C	9: 54,311,333 (GRCm39)	L1796R	probably damaging	Het
Ecm1	A	G	3: 95,643,289 (GRCm39)	F337S	probably damaging	Het
F5	T	C	1: 164,017,710 (GRCm39)	S596P	probably benign	Het
Fat4	A	G	3: 38,946,002 (GRCm39)	T1632A	probably benign	Het
Gm5070	T	G	3: 95,317,936 (GRCm39)		noncoding transcript	Het
Hps5	T	C	7: 46,435,994 (GRCm39)	Y184C	probably benign	Het
Letmd1	T	C	15: 100,367,128 (GRCm39)		probably null	Het
Lipo5	A	T	19: 33,445,277 (GRCm39)	N97K	unknown	Het
Mis18bp1	A	T	12: 65,183,605 (GRCm39)	Y922*	probably null	Het
Mob3c	C	A	4: 115,690,952 (GRCm39)	H181N	probably damaging	Het
Muc4	A	T	16: 32,574,054 (GRCm39)	T711S	probably benign	Het
Nav3	T	C	10: 109,602,851 (GRCm39)	T1233A	probably benign	Het
Nherf4	T	G	9: 44,159,614 (GRCm39)	T461P	probably benign	Het
Or12e8	T	A	2: 87,188,347 (GRCm39)	D186E	probably damaging	Het
Or12k8	G	T	2: 36,975,631 (GRCm39)	T43N	possibly damaging	Het
Pcnt	T	C	10: 76,225,053 (GRCm39)	E1817G	possibly damaging	Het
Pgap4	A	G	4: 49,586,686 (GRCm39)	Y161H	probably benign	Het
Phc3	A	G	3: 30,990,858 (GRCm39)	V420A	probably damaging	Het
Plekhn1	A	T	4: 156,308,106 (GRCm39)	C316S	probably damaging	Het
Ppp1cb	T	A	5: 32,640,818 (GRCm39)		probably benign	Het
Slc29a4	T	C	5: 142,704,534 (GRCm39)	Y359H	probably damaging	Het
Sspo	T	C	6: 48,477,426 (GRCm39)	I4982T	probably damaging	Het
Sstr4	T	A	2: 148,238,229 (GRCm39)	L280Q	probably damaging	Het
Stap1	G	A	5: 86,225,920 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,247,020 (GRCm39)	V865A	possibly damaging	Het
Tnr	T	A	1: 159,679,671 (GRCm39)	V215D	probably benign	Het
Trpm1	T	C	7: 63,860,613 (GRCm39)	L288P	probably damaging	Het
Ttll5	T	A	12: 85,959,319 (GRCm39)		probably benign	Het
Usp8	T	C	2: 126,559,976 (GRCm39)		probably benign	Het
Uxs1	T	C	1: 43,789,446 (GRCm39)	Y403C	possibly damaging	Het
Wnk2	T	C	13: 49,244,345 (GRCm39)	E497G	probably damaging	Het
Xdh	T	C	17: 74,250,890 (GRCm39)	K21E	probably benign	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
IGL03379:Arrdc5	APN	17	56,601,589 (GRCm39)	nonsense	probably null
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

2015-04-16