Mutagenetix > Incidental Mutation

Incidental Mutation 'R1146:Rbsn'

165104

Institutional Source

Beutler Lab

Gene Symbol

Rbsn

Ensembl Gene

ENSMUSG00000014550

Gene Name

rabenosyn, RAB effector

Synonyms

5330426D11Rik, Rabenosyn-5, Zfyve20

MMRRC Submission

039219-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92186712-92214925 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 92201730 bp (GRCm38)

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

Validation Efficiency

98% (44/45)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,531,676	V1848E	probably damaging	Het
Alpk3	A	G	7: 81,077,595	K158E	probably damaging	Het
Arrdc4	T	A	7: 68,740,008	E356D	probably damaging	Het
Asb4	A	G	6: 5,423,591	N246S	probably damaging	Het
Ccdc150	A	T	1: 54,364,971		probably benign	Het
Ctsj	G	A	13: 61,002,498	P230L	probably benign	Het
Dync1i2	C	T	2: 71,227,820		probably benign	Het
Eme1	A	G	11: 94,645,451	L564P	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Frg1	A	G	8: 41,411,217		probably benign	Het
Fzd2	A	T	11: 102,605,380	S217C	possibly damaging	Het
Gaa	G	T	11: 119,274,904	R81L	probably damaging	Het
Gfral	A	G	9: 76,167,059	V368A	probably benign	Het
Gm10774	T	C	2: 126,709,472	Y29C	probably benign	Het
Gucy1a2	T	A	9: 3,759,830	N545K	probably damaging	Het
Herc2	T	C	7: 56,146,696	S1939P	probably benign	Het
Ifnk	T	C	4: 35,152,231	I53T	probably benign	Het
Iqub	G	A	6: 24,505,628	L94F	possibly damaging	Het
Kpna1	C	T	16: 36,033,379	R460*	probably null	Het
Masp1	T	C	16: 23,492,115	E189G	probably damaging	Het
Mogat1	A	G	1: 78,523,613	I105V	probably benign	Het
Mpi	A	G	9: 57,545,189		probably benign	Het
Msh2	C	A	17: 87,680,060	D209E	probably benign	Het
Nsf	G	A	11: 103,828,538	T646I	probably damaging	Het
Olfr1257	C	T	2: 89,881,206	P127S	probably damaging	Het
Olfr1416	G	A	1: 92,479,890	H244Y	probably damaging	Het
Olfr1449	T	A	19: 12,934,965	S76T	possibly damaging	Het
Olfr980	A	T	9: 40,006,094	V285D	possibly damaging	Het
Otogl	T	A	10: 107,886,513	I327F	probably damaging	Het
Pappa2	T	C	1: 158,854,982	D832G	probably damaging	Het
Pax5	G	T	4: 44,697,512		probably benign	Het
Pfkfb4	A	G	9: 109,007,726	E163G	probably benign	Het
Phc1	T	C	6: 122,323,457		probably benign	Het
Piwil1	T	C	5: 128,747,893	S552P	probably benign	Het
Ppfia3	A	C	7: 45,352,215	D424E	probably benign	Het
Prss16	A	G	13: 22,006,968		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rexo1	C	T	10: 80,544,405	S919N	probably benign	Het
Sec31a	T	C	5: 100,362,173	N1152D	probably damaging	Het
Sel1l3	A	T	5: 53,117,103	F1012I	possibly damaging	Het
Sema4c	A	G	1: 36,550,565	V539A	probably benign	Het
Sf3b5	A	G	10: 13,008,831	E70G	possibly damaging	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,357,755		probably benign	Het
Tor1aip2	T	C	1: 156,064,737	V263A	possibly damaging	Het
Unc45b	A	G	11: 82,922,907	E380G	probably damaging	Het
Usp16	C	T	16: 87,474,648	T364M	possibly damaging	Het
Wwox	T	C	8: 114,712,036	S281P	probably damaging	Het
Zfp110	A	G	7: 12,846,794		probably null	Het
Zfp335	G	A	2: 164,896,123	A856V	probably benign	Het
Zfp652	G	A	11: 95,749,782	E178K	possibly damaging	Het

Other mutations in Rbsn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01417:Rbsn	APN	6	92207119	missense	possibly damaging	0.82
IGL02073:Rbsn	APN	6	92189359	missense	probably damaging	1.00
IGL02962:Rbsn	APN	6	92190326	missense	probably benign	0.00
R0172:Rbsn	UTSW	6	92211607	missense	probably damaging	0.99
R0735:Rbsn	UTSW	6	92189693	missense	probably benign	0.01
R0909:Rbsn	UTSW	6	92189810	nonsense	probably null
R1146:Rbsn	UTSW	6	92201730	critical splice donor site	probably null
R1728:Rbsn	UTSW	6	92190019	missense	possibly damaging	0.69
R1729:Rbsn	UTSW	6	92190019	missense	possibly damaging	0.69
R1784:Rbsn	UTSW	6	92190019	missense	possibly damaging	0.69
R2135:Rbsn	UTSW	6	92189873	missense	probably benign
R2183:Rbsn	UTSW	6	92189637	missense	probably benign	0.02
R2324:Rbsn	UTSW	6	92193966	missense	probably damaging	1.00
R2890:Rbsn	UTSW	6	92207123	missense	possibly damaging	0.52
R3729:Rbsn	UTSW	6	92191335	missense	possibly damaging	0.81
R4007:Rbsn	UTSW	6	92189819	missense	probably benign	0.00
R4356:Rbsn	UTSW	6	92207048	missense	possibly damaging	0.47
R5027:Rbsn	UTSW	6	92198250	missense	probably damaging	1.00
R5364:Rbsn	UTSW	6	92193977	missense	probably damaging	0.96
R5787:Rbsn	UTSW	6	92199816	missense	possibly damaging	0.81
R7092:Rbsn	UTSW	6	92189626	missense	probably damaging	1.00
R7134:Rbsn	UTSW	6	92201627	missense	probably damaging	1.00
R7165:Rbsn	UTSW	6	92191334	missense	probably benign	0.10
R8137:Rbsn	UTSW	6	92190022	missense	probably benign	0.00
R9063:Rbsn	UTSW	6	92194019	missense	probably benign	0.45
R9261:Rbsn	UTSW	6	92189816	missense	probably benign
R9452:Rbsn	UTSW	6	92201764	missense	possibly damaging	0.92
R9609:Rbsn	UTSW	6	92202584	missense	probably damaging	0.96
R9678:Rbsn	UTSW	6	92211638	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGCACATGATAGACCCACAGAGG -3'
(R):5'- AGACTGGAGAGTCAGGAGTTCACC -3'

Sequencing Primer
(F):5'- CACAGAGGCGGCAGTGG -3'
(R):5'- AGTCAGGAGTTCACCATTGC -3'

Posted On

2014-03-28