Mutagenetix > Incidental Mutation

Incidental Mutation 'R1146:Arrdc4'

165110

Institutional Source

Beutler Lab

Gene Symbol

Arrdc4

Ensembl Gene

ENSMUSG00000042659

Gene Name

arrestin domain containing 4

Synonyms

2410003C09Rik

MMRRC Submission

039219-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.383) question?

Stock #

R1146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68386742-68398986 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68389756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 356 (E356D)

Ref Sequence

ENSEMBL: ENSMUSP00000044578 (fasta)

Gene Model

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

AlphaFold

A0A0B4J1F4

Predicted Effect

probably damaging
Transcript: ENSMUST00000048068
AA Change: E356D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000044578
Gene: ENSMUSG00000042659
AA Change: E356D

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

SMART Domains

Protein: ENSMUSP00000112962
Gene: ENSMUSG00000042659

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.6%
3x: 98.5%
10x: 95.4%
20x: 88.7%

Validation Efficiency

98% (44/45)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,679,795 (GRCm39)	V1848E	probably damaging	Het
Alpk3	A	G	7: 80,727,343 (GRCm39)	K158E	probably damaging	Het
Asb4	A	G	6: 5,423,591 (GRCm39)	N246S	probably damaging	Het
Ccdc150	A	T	1: 54,404,130 (GRCm39)		probably benign	Het
Ctsj	G	A	13: 61,150,312 (GRCm39)	P230L	probably benign	Het
Dync1i2	C	T	2: 71,058,164 (GRCm39)		probably benign	Het
Eme1	A	G	11: 94,536,277 (GRCm39)	L564P	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Frg1	A	G	8: 41,864,254 (GRCm39)		probably benign	Het
Fzd2	A	T	11: 102,496,206 (GRCm39)	S217C	possibly damaging	Het
Gaa	G	T	11: 119,165,730 (GRCm39)	R81L	probably damaging	Het
Gfral	A	G	9: 76,074,341 (GRCm39)	V368A	probably benign	Het
Gm10774	T	C	2: 126,551,392 (GRCm39)	Y29C	probably benign	Het
Gucy1a2	T	A	9: 3,759,830 (GRCm39)	N545K	probably damaging	Het
Herc2	T	C	7: 55,796,444 (GRCm39)	S1939P	probably benign	Het
Ifnk	T	C	4: 35,152,231 (GRCm39)	I53T	probably benign	Het
Iqub	G	A	6: 24,505,627 (GRCm39)	L94F	possibly damaging	Het
Kpna1	C	T	16: 35,853,749 (GRCm39)	R460*	probably null	Het
Masp1	T	C	16: 23,310,865 (GRCm39)	E189G	probably damaging	Het
Mogat1	A	G	1: 78,500,250 (GRCm39)	I105V	probably benign	Het
Mpi	A	G	9: 57,452,472 (GRCm39)		probably benign	Het
Msh2	C	A	17: 87,987,488 (GRCm39)	D209E	probably benign	Het
Nsf	G	A	11: 103,719,364 (GRCm39)	T646I	probably damaging	Het
Or10g9b	A	T	9: 39,917,390 (GRCm39)	V285D	possibly damaging	Het
Or4c10b	C	T	2: 89,711,550 (GRCm39)	P127S	probably damaging	Het
Or5b24	T	A	19: 12,912,329 (GRCm39)	S76T	possibly damaging	Het
Or6b2	G	A	1: 92,407,612 (GRCm39)	H244Y	probably damaging	Het
Otogl	T	A	10: 107,722,374 (GRCm39)	I327F	probably damaging	Het
Pappa2	T	C	1: 158,682,552 (GRCm39)	D832G	probably damaging	Het
Pax5	G	T	4: 44,697,512 (GRCm39)		probably benign	Het
Pfkfb4	A	G	9: 108,836,794 (GRCm39)	E163G	probably benign	Het
Phc1	T	C	6: 122,300,416 (GRCm39)		probably benign	Het
Piwil1	T	C	5: 128,824,957 (GRCm39)	S552P	probably benign	Het
Ppfia3	A	C	7: 45,001,639 (GRCm39)	D424E	probably benign	Het
Prss16	A	G	13: 22,191,138 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbsn	A	G	6: 92,178,711 (GRCm39)		probably null	Het
Rexo1	C	T	10: 80,380,239 (GRCm39)	S919N	probably benign	Het
Sec31a	T	C	5: 100,510,032 (GRCm39)	N1152D	probably damaging	Het
Sel1l3	A	T	5: 53,274,445 (GRCm39)	F1012I	possibly damaging	Het
Sema4c	A	G	1: 36,589,646 (GRCm39)	V539A	probably benign	Het
Sf3b5	A	G	10: 12,884,575 (GRCm39)	E70G	possibly damaging	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,285,493 (GRCm39)		probably benign	Het
Tor1aip2	T	C	1: 155,940,483 (GRCm39)	V263A	possibly damaging	Het
Unc45b	A	G	11: 82,813,733 (GRCm39)	E380G	probably damaging	Het
Usp16	C	T	16: 87,271,536 (GRCm39)	T364M	possibly damaging	Het
Wwox	T	C	8: 115,438,776 (GRCm39)	S281P	probably damaging	Het
Zfp110	A	G	7: 12,580,721 (GRCm39)		probably null	Het
Zfp335	G	A	2: 164,738,043 (GRCm39)	A856V	probably benign	Het
Zfp652	G	A	11: 95,640,608 (GRCm39)	E178K	possibly damaging	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
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
R6784:Arrdc4	UTSW	7	68,398,594 (GRCm39)	missense	probably benign	0.00
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'- GCATCACCAGGATGTGGATCAACC -3'
(R):5'- GAACCAAAACTTGTCTTGTGGTGGC -3'

Sequencing Primer
(F):5'- GGTAACCACCTGTCATGAAGTTC -3'
(R):5'- GGCCATAATATCTCTTGTTTGACTC -3'

Posted On

2014-03-28