Mutagenetix > Incidental Mutation

Incidental Mutation 'R1146:Rbsn'

102422

Institutional Source

Beutler Lab

Gene Symbol

Rbsn

Ensembl Gene

ENSMUSG00000014550

Gene Name

rabenosyn, RAB effector

Synonyms

Rabenosyn-5, 5330426D11Rik, Zfyve20

MMRRC Submission

039219-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1146 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92163693-92191874 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 92178711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000014694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014694]

AlphaFold

Q80Y56

Predicted Effect

probably null
Transcript: ENSMUST00000014694

SMART Domains

Protein: ENSMUSP00000014694
Gene: ENSMUSG00000014550

Domain	Start	End	E-Value	Type
ZnF_C2H2	14	37	4.45e0	SMART
low complexity region	53	64	N/A	INTRINSIC
FYVE	148	260	2e-10	SMART
coiled coil region	377	412	N/A	INTRINSIC
Pfam:Rbsn	457	498	9e-21	PFAM
low complexity region	512	535	N/A	INTRINSIC
Pfam:NPF	547	736	2.3e-61	PFAM
Pfam:Rbsn	737	778	6.5e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141332

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 99.4%
3x: 97.6%
10x: 85.8%
20x: 55.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the FYVE zinc finger family of proteins. The encoded protein interacts with Ras-related proteins that regulate membrane trafficking. A missense mutation in this gene is associated with a defect in the early endocytic pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Allele List at MGI

Other mutations in this stock

Total: 46 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
Arrdc4	T	A	7: 68,389,756 (GRCm39)	E356D	probably damaging	Het
Asb4	A	G	6: 5,423,591 (GRCm39)	N246S	probably damaging	Het
Ctsj	G	A	13: 61,150,312 (GRCm39)	P230L	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
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
Gm21738	T	C	14: 19,415,963 (GRCm38)	K192R	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
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
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
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	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
Usp50	T	C	2: 126,551,392 (GRCm39)	Y29C	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	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 Rbsn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01417:Rbsn	APN	6	92,184,100 (GRCm39)	missense	possibly damaging	0.82
IGL02073:Rbsn	APN	6	92,166,340 (GRCm39)	missense	probably damaging	1.00
IGL02962:Rbsn	APN	6	92,167,307 (GRCm39)	missense	probably benign	0.00
R0172:Rbsn	UTSW	6	92,188,588 (GRCm39)	missense	probably damaging	0.99
R0735:Rbsn	UTSW	6	92,166,674 (GRCm39)	missense	probably benign	0.01
R0909:Rbsn	UTSW	6	92,166,791 (GRCm39)	nonsense	probably null
R1146:Rbsn	UTSW	6	92,178,711 (GRCm39)	critical splice donor site	probably null
R1728:Rbsn	UTSW	6	92,167,000 (GRCm39)	missense	possibly damaging	0.69
R1729:Rbsn	UTSW	6	92,167,000 (GRCm39)	missense	possibly damaging	0.69
R1784:Rbsn	UTSW	6	92,167,000 (GRCm39)	missense	possibly damaging	0.69
R2135:Rbsn	UTSW	6	92,166,854 (GRCm39)	missense	probably benign
R2183:Rbsn	UTSW	6	92,166,618 (GRCm39)	missense	probably benign	0.02
R2324:Rbsn	UTSW	6	92,170,947 (GRCm39)	missense	probably damaging	1.00
R2890:Rbsn	UTSW	6	92,184,104 (GRCm39)	missense	possibly damaging	0.52
R3729:Rbsn	UTSW	6	92,168,316 (GRCm39)	missense	possibly damaging	0.81
R4007:Rbsn	UTSW	6	92,166,800 (GRCm39)	missense	probably benign	0.00
R4356:Rbsn	UTSW	6	92,184,029 (GRCm39)	missense	possibly damaging	0.47
R5027:Rbsn	UTSW	6	92,175,231 (GRCm39)	missense	probably damaging	1.00
R5364:Rbsn	UTSW	6	92,170,958 (GRCm39)	missense	probably damaging	0.96
R5787:Rbsn	UTSW	6	92,176,797 (GRCm39)	missense	possibly damaging	0.81
R7092:Rbsn	UTSW	6	92,166,607 (GRCm39)	missense	probably damaging	1.00
R7134:Rbsn	UTSW	6	92,178,608 (GRCm39)	missense	probably damaging	1.00
R7165:Rbsn	UTSW	6	92,168,315 (GRCm39)	missense	probably benign	0.10
R8137:Rbsn	UTSW	6	92,167,003 (GRCm39)	missense	probably benign	0.00
R9063:Rbsn	UTSW	6	92,171,000 (GRCm39)	missense	probably benign	0.45
R9261:Rbsn	UTSW	6	92,166,797 (GRCm39)	missense	probably benign
R9452:Rbsn	UTSW	6	92,178,745 (GRCm39)	missense	possibly damaging	0.92
R9609:Rbsn	UTSW	6	92,179,565 (GRCm39)	missense	probably damaging	0.96
R9678:Rbsn	UTSW	6	92,188,619 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15