Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03307:Arrdc1'

416425

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arrdc1

Ensembl Gene

ENSMUSG00000026972

Gene Name

arrestin domain containing 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03307

Quality Score

Status

Chromosome

Chromosomal Location

24815364-24825264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24816354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 205 (I205N)

Ref Sequence

ENSEMBL: ENSMUSP00000117695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028349] [ENSMUST00000102935] [ENSMUST00000133934] [ENSMUST00000142887] [ENSMUST00000144963]

AlphaFold

Q99KN1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028349
AA Change: I242N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028349
Gene: ENSMUSG00000026972
AA Change: I242N

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	7	139	8.5e-19	PFAM
Arrestin_C	162	286	1.19e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102935
AA Change: I241N

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099999
Gene: ENSMUSG00000026972
AA Change: I241N

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	7	139	4.1e-31	PFAM
Arrestin_C	162	285	2.7e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129784

Predicted Effect

probably benign
Transcript: ENSMUST00000132074

SMART Domains

Protein: ENSMUSP00000116352
Gene: ENSMUSG00000026972

Domain	Start	End	E-Value	Type
Blast:Arrestin_C	2	84	4e-48	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133396

Predicted Effect

probably damaging
Transcript: ENSMUST00000133934
AA Change: I205N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117695
Gene: ENSMUSG00000026972
AA Change: I205N

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	38	102	1.4e-16	PFAM
Pfam:Arrestin_C	125	210	1.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142887

SMART Domains

Protein: ENSMUSP00000117372
Gene: ENSMUSG00000026972

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	6	95	2e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155953

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156706

Predicted Effect

probably benign
Transcript: ENSMUST00000144963

SMART Domains

Protein: ENSMUSP00000114684
Gene: ENSMUSG00000026972

Domain	Start	End	E-Value	Type
Blast:Arrestin_C	3	58	5e-21	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mouse embryonic fibroblasts exhibit reduced extracellular vesicle release. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	T	C	12: 88,425,823 (GRCm39)	I417T	possibly damaging	Het
Atp6v1a	A	G	16: 43,931,922 (GRCm39)	V122A	possibly damaging	Het
Atp8a2	A	G	14: 60,253,321 (GRCm39)		probably null	Het
Cdh18	A	G	15: 23,226,872 (GRCm39)	H111R	probably damaging	Het
Cpsf3	T	A	12: 21,346,715 (GRCm39)	I196N	possibly damaging	Het
Cyp2b9	C	T	7: 25,898,476 (GRCm39)	S277L	probably benign	Het
Grik3	T	C	4: 125,535,347 (GRCm39)	M248T	possibly damaging	Het
Gusb	T	C	5: 130,028,872 (GRCm39)	*145W	probably null	Het
Il18rap	T	C	1: 40,582,227 (GRCm39)	Y383H	probably benign	Het
Lama4	T	C	10: 38,893,379 (GRCm39)	V162A	probably benign	Het
Macc1	A	T	12: 119,410,155 (GRCm39)	M308L	probably benign	Het
Or52s1b	C	T	7: 102,822,623 (GRCm39)	V74I	probably benign	Het
Or8g27	A	T	9: 39,129,309 (GRCm39)	I219F	probably benign	Het
Postn	A	G	3: 54,282,548 (GRCm39)	D503G	probably benign	Het
Robo3	A	T	9: 37,333,860 (GRCm39)	V658D	probably damaging	Het
Scrn1	G	A	6: 54,525,322 (GRCm39)	R16*	probably null	Het
Setd1b	C	A	5: 123,286,734 (GRCm39)	D593E	unknown	Het
Slc2a13	C	T	15: 91,160,317 (GRCm39)	V546M	probably damaging	Het
Spock1	T	C	13: 57,577,160 (GRCm39)	D423G	probably null	Het
Stox2	T	C	8: 47,647,065 (GRCm39)	T132A	probably damaging	Het
Tle2	T	C	10: 81,426,074 (GRCm39)	S703P	probably damaging	Het
Trgc1	A	G	13: 19,398,528 (GRCm39)		probably benign	Het
Ttc41	T	C	10: 86,580,304 (GRCm39)	I750T	possibly damaging	Het
Vmn2r107	A	T	17: 20,577,038 (GRCm39)	K345N	probably benign	Het
Vmn2r60	T	C	7: 41,765,971 (GRCm39)	V26A	probably benign	Het
Vmn2r98	G	A	17: 19,286,242 (GRCm39)	V247I	possibly damaging	Het
Zan	A	G	5: 137,472,287 (GRCm39)	V153A	probably damaging	Het

Other mutations in Arrdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02227:Arrdc1	APN	2	24,816,164 (GRCm39)	missense	possibly damaging	0.93
IGL02510:Arrdc1	APN	2	24,825,112 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Arrdc1	UTSW	2	24,816,645 (GRCm39)	missense	probably damaging	1.00
R1192:Arrdc1	UTSW	2	24,816,152 (GRCm39)	missense	probably benign	0.22
R1466:Arrdc1	UTSW	2	24,815,807 (GRCm39)	missense	probably benign	0.04
R1466:Arrdc1	UTSW	2	24,815,807 (GRCm39)	missense	probably benign	0.04
R1550:Arrdc1	UTSW	2	24,816,351 (GRCm39)	missense	probably damaging	1.00
R1584:Arrdc1	UTSW	2	24,815,807 (GRCm39)	missense	probably benign	0.04
R2061:Arrdc1	UTSW	2	24,816,364 (GRCm39)	nonsense	probably null
R2157:Arrdc1	UTSW	2	24,816,987 (GRCm39)	missense	probably damaging	1.00
R4904:Arrdc1	UTSW	2	24,816,676 (GRCm39)	missense	possibly damaging	0.93
R4946:Arrdc1	UTSW	2	24,815,860 (GRCm39)	missense	probably benign	0.36
R5632:Arrdc1	UTSW	2	24,817,840 (GRCm39)	missense	probably benign	0.01
R5766:Arrdc1	UTSW	2	24,816,417 (GRCm39)	missense	probably damaging	0.99
R6875:Arrdc1	UTSW	2	24,815,677 (GRCm39)	missense	probably benign	0.19
R7860:Arrdc1	UTSW	2	24,816,158 (GRCm39)	missense	probably damaging	1.00
R9136:Arrdc1	UTSW	2	24,817,193 (GRCm39)	splice site	probably benign

Posted On

2016-08-02