Mutagenetix > Incidental Mutation

Incidental Mutation 'R0172:Rbsn'

24272

Institutional Source

Beutler Lab

Gene Symbol

Rbsn

Ensembl Gene

ENSMUSG00000014550

Gene Name

rabenosyn, RAB effector

Synonyms

Rabenosyn-5, 5330426D11Rik, Zfyve20

MMRRC Submission

038444-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0172 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

92163693-92191874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92188588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 42 (D42E)

Ref Sequence

ENSEMBL: ENSMUSP00000014694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014694] [ENSMUST00000138041] [ENSMUST00000203516]

AlphaFold

Q80Y56

Predicted Effect

probably damaging
Transcript: ENSMUST00000014694
AA Change: D42E

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

SMART Domains

Protein: ENSMUSP00000014694
Gene: ENSMUSG00000014550
AA Change: D42E

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

possibly damaging
Transcript: ENSMUST00000138041
AA Change: D42E

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000203516

Meta Mutation Damage Score

0.0773

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.4%

Validation Efficiency

82% (40/49)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,645,578 (GRCm39)	C488S	probably damaging	Het
Abca12	T	G	1: 71,318,561 (GRCm39)	D1814A	probably damaging	Het
Acp7	T	C	7: 28,314,549 (GRCm39)	N272S	possibly damaging	Het
Ank3	T	C	10: 69,811,888 (GRCm39)	V1145A	probably damaging	Het
Ap1m2	A	T	9: 21,209,628 (GRCm39)		probably null	Het
Atp12a	T	C	14: 56,610,301 (GRCm39)	V224A	probably damaging	Het
Cdh23	T	C	10: 60,155,411 (GRCm39)	E2253G	probably damaging	Het
Cep350	T	C	1: 155,829,193 (GRCm39)	N237S	probably benign	Het
Crispld2	T	C	8: 120,752,810 (GRCm39)	V286A	possibly damaging	Het
Cyp2c65	G	T	19: 39,076,100 (GRCm39)	V351L	possibly damaging	Het
D130043K22Rik	T	C	13: 25,056,389 (GRCm39)	F574L	probably benign	Het
Dag1	G	A	9: 108,086,031 (GRCm39)	T370M	possibly damaging	Het
Dmwd	C	T	7: 18,814,267 (GRCm39)	R306C	probably damaging	Het
Dnah11	T	C	12: 117,951,188 (GRCm39)	Y3040C	probably damaging	Het
Dst	C	A	1: 34,309,935 (GRCm39)	H1536Q	probably damaging	Het
Eif3j1	A	G	2: 121,882,246 (GRCm39)	I202V	probably benign	Het
Epg5	T	A	18: 78,070,574 (GRCm39)	V2283D	probably benign	Het
Evi5	T	C	5: 107,938,328 (GRCm39)	N625S	probably benign	Het
Exosc10	T	C	4: 148,649,814 (GRCm39)	S415P	probably benign	Het
F830016B08Rik	G	T	18: 60,433,036 (GRCm39)	D40Y	possibly damaging	Het
Fam118a	A	G	15: 84,929,951 (GRCm39)	I60V	probably benign	Het
Fam186a	A	T	15: 99,852,768 (GRCm39)	M150K	unknown	Het
Fam193a	C	T	5: 34,622,957 (GRCm39)	R1182W	probably damaging	Het
Fastkd2	T	A	1: 63,771,187 (GRCm39)	I181K	possibly damaging	Het
Hip1r	T	A	5: 124,135,003 (GRCm39)	Y380N	possibly damaging	Het
Hivep2	C	A	10: 14,015,218 (GRCm39)	P1795Q	probably damaging	Het
Hnrnpab	T	C	11: 51,493,494 (GRCm39)	E238G	probably damaging	Het
Kcnma1	C	T	14: 23,853,234 (GRCm39)	A172T	probably damaging	Het
Lipg	G	T	18: 75,081,245 (GRCm39)	H279N	possibly damaging	Het
Lrrc9	A	G	12: 72,510,260 (GRCm39)	D453G	possibly damaging	Het
Map1s	T	A	8: 71,367,612 (GRCm39)	M839K	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Myo1h	T	A	5: 114,467,225 (GRCm39)		probably null	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nrn1	T	C	13: 36,914,544 (GRCm39)	R19G	probably benign	Het
Nwd2	T	C	5: 63,963,712 (GRCm39)	Y1099H	probably benign	Het
Nxpe2	G	A	9: 48,231,209 (GRCm39)	R387C	possibly damaging	Het
Or2a25	T	C	6: 42,888,913 (GRCm39)	V152A	probably benign	Het
Pappa2	C	T	1: 158,682,419 (GRCm39)		probably null	Het
Pcdhb13	A	T	18: 37,575,990 (GRCm39)	I123L	probably benign	Het
Plcg2	A	G	8: 118,306,521 (GRCm39)	T292A	probably benign	Het
Pnpla8	T	A	12: 44,358,111 (GRCm39)	V469D	probably damaging	Het
Pop4	T	C	7: 37,962,679 (GRCm39)	Y195C	probably damaging	Het
Sclt1	A	T	3: 41,672,222 (GRCm39)	I123N	possibly damaging	Het
Slc22a27	C	A	19: 7,843,201 (GRCm39)	G393*	probably null	Het
Smu1	C	T	4: 40,738,439 (GRCm39)	V432I	probably benign	Het
Sohlh1	A	G	2: 25,736,215 (GRCm39)		probably null	Het
Spta1	T	A	1: 174,058,352 (GRCm39)	I1940K	probably damaging	Het
Sufu	G	T	19: 46,385,563 (GRCm39)	V8F	possibly damaging	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem184b	A	G	15: 79,262,740 (GRCm39)	V39A	possibly damaging	Het
Tmem236	A	G	2: 14,223,694 (GRCm39)	D161G	probably benign	Het
Ufl1	T	C	4: 25,280,685 (GRCm39)	K54R	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	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
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
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

PCR Primer
(F):5'- TGCCCAAACAATCCCAGGTGAAGG -3'
(R):5'- GCTCAAGCTAACACTGCCAGAGTC -3'

Sequencing Primer
(F):5'- aggaggcagagtgagcag -3'
(R):5'- AGTCAAGCTTACTTGGCATGAG -3'

Posted On

2013-04-16