Mutagenetix > Incidental Mutation

Incidental Mutation 'R6784:Arrdc4'

531560

Institutional Source

Beutler Lab

Gene Symbol

Arrdc4

Ensembl Gene

ENSMUSG00000042659

Gene Name

arrestin domain containing 4

Synonyms

2410003C09Rik

MMRRC Submission

044898-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R6784 (G1)

Quality Score

174.009

Status

Validated

Chromosome

Chromosomal Location

68386742-68398986 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68398594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 74 (I74T)

Ref Sequence

ENSEMBL: ENSMUSP00000112962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048068] [ENSMUST00000118110]

AlphaFold

A0A0B4J1F4

Predicted Effect

probably benign
Transcript: ENSMUST00000048068
AA Change: I74T

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

SMART Domains

Protein: ENSMUSP00000044578
Gene: ENSMUSG00000042659
AA Change: I74T

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	19	166	6.2e-35	PFAM
Arrestin_C	188	315	8.24e-30	SMART
low complexity region	336	348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118110
AA Change: I74T

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

SMART Domains

Protein: ENSMUSP00000112962
Gene: ENSMUSG00000042659
AA Change: I74T

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	17	166	6.6e-35	PFAM
Arrestin_C	188	296	6.46e-14	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.2%

Validation Efficiency

98% (46/47)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele show a marked reduction in the amount of extracellular vesicles (EVs) released from mouse gut explants. Mutant mouse embryonic fibroblasts exhibit reduced EV release. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	C	T	6: 23,093,895 (GRCm39)	S142N	probably null	Het
Aida	A	G	1: 183,103,346 (GRCm39)	Y275C	probably damaging	Het
C1ql4	A	G	15: 98,985,290 (GRCm39)	V107A	probably benign	Het
Ccnh	T	C	13: 85,360,884 (GRCm39)	V284A	probably benign	Het
Cd180	A	G	13: 102,839,213 (GRCm39)	E32G	probably damaging	Het
Chd6	T	C	2: 160,808,174 (GRCm39)	D1680G	probably damaging	Het
Cog7	A	T	7: 121,563,516 (GRCm39)		probably null	Het
Cyp2j6	T	A	4: 96,423,741 (GRCm39)	Q209L	possibly damaging	Het
Dars1	A	T	1: 128,319,084 (GRCm39)	V116E	probably damaging	Het
Dnah10	A	G	5: 124,854,890 (GRCm39)	K1932E	probably damaging	Het
Dock9	A	G	14: 121,780,926 (GRCm39)	S2086P	probably damaging	Het
Espl1	C	G	15: 102,207,660 (GRCm39)	R375G	probably benign	Het
Fer1l6	C	T	15: 58,443,275 (GRCm39)	S526L	possibly damaging	Het
Galnt9	G	A	5: 110,768,465 (GRCm39)	R587H	probably damaging	Het
Gigyf2	G	T	1: 87,371,396 (GRCm39)	V1170L	probably damaging	Het
Gm14412	G	T	2: 177,009,133 (GRCm39)	T41K	probably benign	Het
Gm45861	A	G	8: 27,990,086 (GRCm39)		probably null	Het
H2bc4	T	C	13: 23,868,483 (GRCm39)	I90T	probably damaging	Het
Hoxc5	A	G	15: 102,922,322 (GRCm39)		probably benign	Het
Jkampl	A	T	6: 73,445,918 (GRCm39)	Y210*	probably null	Het
Klra1	T	C	6: 130,349,817 (GRCm39)	D207G	probably benign	Het
Lancl2	A	G	6: 57,680,240 (GRCm39)	N57D	probably benign	Het
Map2k4	T	C	11: 65,582,577 (GRCm39)		probably benign	Het
Mgat3	G	T	15: 80,096,401 (GRCm39)	Q409H	probably damaging	Het
Mpp3	T	A	11: 101,892,974 (GRCm39)		probably null	Het
Myh1	T	A	11: 67,105,396 (GRCm39)	L1062Q	probably damaging	Het
Nebl	T	A	2: 17,439,725 (GRCm39)	K183*	probably null	Het
Npat	G	C	9: 53,469,458 (GRCm39)	D315H	probably damaging	Het
Nt5c2	A	G	19: 46,912,766 (GRCm39)	V63A	probably damaging	Het
Opn1sw	T	A	6: 29,379,846 (GRCm39)	E129D	probably damaging	Het
Or10ag2	C	T	2: 87,248,796 (GRCm39)	R135C	probably benign	Het
Or1e29	T	G	11: 73,667,676 (GRCm39)	H159P	probably damaging	Het
Or51t4	A	T	7: 102,597,722 (GRCm39)	T17S	possibly damaging	Het
Or5p1	A	T	7: 107,916,989 (GRCm39)	D296V	probably damaging	Het
Prdm16	T	C	4: 154,407,764 (GRCm39)	Y1153C	probably damaging	Het
Prdm6	T	A	18: 53,669,698 (GRCm39)	D105E	probably benign	Het
Pwwp4c	C	T	X: 73,684,021 (GRCm39)	R355H	probably damaging	Homo
Rbm27	T	C	18: 42,434,929 (GRCm39)	M331T	probably benign	Het
S1pr1	A	G	3: 115,505,710 (GRCm39)	Y295H	probably damaging	Het
Sgpp1	G	C	12: 75,782,243 (GRCm39)	P32R	probably benign	Het
Sla2	C	T	2: 156,725,589 (GRCm39)	S3N	unknown	Het
Slc10a6	A	G	5: 103,776,896 (GRCm39)	I68T	probably damaging	Het
Slc5a1	T	C	5: 33,315,460 (GRCm39)	F493S	probably benign	Het
Snx14	A	T	9: 88,263,845 (GRCm39)	Y847N	probably benign	Het
Tmc1	A	G	19: 20,805,015 (GRCm39)		probably null	Het
Vps8	C	A	16: 21,381,957 (GRCm39)	Q1130K	probably benign	Het

Other mutations in Arrdc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01637:Arrdc4	APN	7	68,394,580 (GRCm39)	nonsense	probably null
IGL02164:Arrdc4	APN	7	68,389,285 (GRCm39)	unclassified	probably benign
IGL03009:Arrdc4	APN	7	68,389,241 (GRCm39)	missense	probably damaging	1.00
R0454:Arrdc4	UTSW	7	68,391,619 (GRCm39)	missense	probably damaging	1.00
R1146:Arrdc4	UTSW	7	68,389,756 (GRCm39)	missense	probably damaging	0.99
R1146:Arrdc4	UTSW	7	68,389,756 (GRCm39)	missense	probably damaging	0.99
R1588:Arrdc4	UTSW	7	68,391,484 (GRCm39)	missense	possibly damaging	0.95
R1764:Arrdc4	UTSW	7	68,391,622 (GRCm39)	missense	probably damaging	1.00
R1956:Arrdc4	UTSW	7	68,391,547 (GRCm39)	missense	probably benign	0.16
R4717:Arrdc4	UTSW	7	68,391,406 (GRCm39)	missense	probably damaging	0.98
R6321:Arrdc4	UTSW	7	68,398,793 (GRCm39)	missense	probably benign	0.21
R7329:Arrdc4	UTSW	7	68,390,775 (GRCm39)	missense	probably damaging	1.00
R7689:Arrdc4	UTSW	7	68,391,623 (GRCm39)	missense	probably damaging	1.00
R7909:Arrdc4	UTSW	7	68,394,924 (GRCm39)	missense	probably benign	0.30
R7911:Arrdc4	UTSW	7	68,394,924 (GRCm39)	missense	probably benign	0.30
R7970:Arrdc4	UTSW	7	68,390,820 (GRCm39)	missense	probably damaging	1.00
R9356:Arrdc4	UTSW	7	68,394,627 (GRCm39)	missense	possibly damaging	0.55
R9623:Arrdc4	UTSW	7	68,390,741 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- ATGACTCCCCTTCCAGAAGC -3'
(R):5'- TTAAAGAGACAGGGCCCCAG -3'

Sequencing Primer
(F):5'- AGAAGCTTCCCTCAGTGCC -3'
(R):5'- CCAGTGCGGGTGTTTCAC -3'

Posted On

2018-08-29