Mutagenetix > Incidental Mutation

Incidental Mutation 'R7092:Rbsn'

550276

Institutional Source

Beutler Lab

Gene Symbol

Rbsn

Ensembl Gene

ENSMUSG00000014550

Gene Name

rabenosyn, RAB effector

Synonyms

Rabenosyn-5, 5330426D11Rik, Zfyve20

MMRRC Submission

045186-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7092 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92163693-92191874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92166607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 679 (N679S)

Ref Sequence

ENSEMBL: ENSMUSP00000014694 (fasta)

Gene Model

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

AlphaFold

Q80Y56

Predicted Effect

probably damaging
Transcript: ENSMUST00000014694
AA Change: N679S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000014694
Gene: ENSMUSG00000014550
AA Change: N679S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (88/89)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	C	T	3: 137,889,506 (GRCm39)	C37Y	probably benign	Het
A430005L14Rik	T	A	4: 154,045,451 (GRCm39)		probably null	Het
Aadacl2fm3	T	C	3: 59,768,500 (GRCm39)	F10S	probably benign	Het
Abca4	C	G	3: 121,932,218 (GRCm39)	P1499A	probably damaging	Het
Adcy8	T	C	15: 64,743,619 (GRCm39)	N330D	possibly damaging	Het
Arfgef1	A	G	1: 10,223,901 (GRCm39)	Y1466H	probably damaging	Het
Asz1	A	C	6: 18,071,818 (GRCm39)		probably null	Het
Atad5	T	A	11: 80,011,546 (GRCm39)	N1307K	possibly damaging	Het
B4galnt4	C	A	7: 140,648,549 (GRCm39)	F688L	probably damaging	Het
Birc6	C	T	17: 74,953,740 (GRCm39)	T3349I	probably damaging	Het
Ccp110	C	A	7: 118,334,494 (GRCm39)	A989E	probably benign	Het
Ccser2	A	G	14: 36,662,612 (GRCm39)	S191P	probably benign	Het
Cdca2	A	G	14: 67,944,800 (GRCm39)		probably null	Het
Cdcp1	T	A	9: 123,012,678 (GRCm39)	T290S	probably benign	Het
Cep43	C	T	17: 8,391,802 (GRCm39)	P161S	probably benign	Het
Clec2m	T	A	6: 129,299,963 (GRCm39)	T172S	probably benign	Het
Cnnm1	T	C	19: 43,430,387 (GRCm39)	Y502H	probably damaging	Het
Cyba	T	G	8: 123,154,437 (GRCm39)	T29P	probably damaging	Het
Dcaf12	A	T	4: 41,301,366 (GRCm39)	I190N	probably damaging	Het
Depp1	C	A	6: 116,628,749 (GRCm39)	P31T	probably damaging	Het
Epha1	T	C	6: 42,341,179 (GRCm39)	T512A	probably benign	Het
Fancg	G	A	4: 43,004,831 (GRCm39)	P454L	probably benign	Het
Fasn	A	C	11: 120,710,946 (GRCm39)	V268G	possibly damaging	Het
Fip1l1	T	A	5: 74,697,504 (GRCm39)	L42Q	probably damaging	Het
Fjx1	A	G	2: 102,281,101 (GRCm39)	L278P	possibly damaging	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Fundc2b	T	A	3: 40,856,809 (GRCm39)	D22V	possibly damaging	Het
Gm1527	T	A	3: 28,968,696 (GRCm39)		probably null	Het
Gng3	T	A	19: 8,815,611 (GRCm39)	M42L	probably benign	Het
Gsdmc2	T	A	15: 63,696,947 (GRCm39)	Q408L	probably damaging	Het
Gtpbp3	T	A	8: 71,944,909 (GRCm39)	I388K	probably benign	Het
Hmcn1	A	T	1: 150,479,997 (GRCm39)	W4534R	probably damaging	Het
Inhca	G	A	9: 103,158,242 (GRCm39)	S106L	possibly damaging	Het
Ist1	A	T	8: 110,409,228 (GRCm39)		probably null	Het
Kifbp	C	A	10: 62,414,079 (GRCm39)	K26N	probably damaging	Het
Kyat3	T	C	3: 142,435,556 (GRCm39)	I276T	probably damaging	Het
Lipm	C	T	19: 34,098,758 (GRCm39)	P411S	possibly damaging	Het
Lipo3	T	C	19: 33,591,092 (GRCm39)		probably null	Het
Lrrc9	C	A	12: 72,510,238 (GRCm39)	Q446K	possibly damaging	Het
Mfsd4a	G	T	1: 131,995,401 (GRCm39)	T77N	probably benign	Het
Mmp1b	T	A	9: 7,386,981 (GRCm39)	D77V	probably damaging	Het
Mrgprb4	A	G	7: 47,847,984 (GRCm39)	S315P	probably benign	Het
Mroh2b	C	A	15: 4,964,160 (GRCm39)	N887K	possibly damaging	Het
Mto1	A	G	9: 78,377,955 (GRCm39)	K599R	probably benign	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,363,385 (GRCm39)		probably benign	Het
Mylk2	A	G	2: 152,757,110 (GRCm39)	N295S	probably benign	Het
Nr1i3	G	A	1: 171,041,747 (GRCm39)		probably null	Het
Nup107	T	C	10: 117,626,399 (GRCm39)	K25E	probably damaging	Het
Odc1	G	A	12: 17,598,314 (GRCm39)	V152I	possibly damaging	Het
Or13a20	G	A	7: 140,232,150 (GRCm39)	G86D	probably benign	Het
Or1l4b	T	A	2: 37,036,623 (GRCm39)	M133K	probably damaging	Het
Or5m10b	A	T	2: 85,698,951 (GRCm39)	N5I	probably damaging	Het
Or7g16	G	A	9: 18,727,353 (GRCm39)	P79L	probably damaging	Het
Pde1b	G	T	15: 103,435,458 (GRCm39)	V438L	probably benign	Het
Pde4b	G	A	4: 102,459,048 (GRCm39)	V523M	probably damaging	Het
Pdgfc	C	T	3: 81,111,659 (GRCm39)	P205S	probably damaging	Het
Per2	A	G	1: 91,349,153 (GRCm39)	S1073P	probably damaging	Het
Plekhg5	C	T	4: 152,198,965 (GRCm39)	T1051I	probably damaging	Het
Ppme1	A	T	7: 100,021,029 (GRCm39)	M1K	probably null	Het
Prokr2	A	T	2: 132,223,236 (GRCm39)	V102D	possibly damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ptprh	C	A	7: 4,583,860 (GRCm39)		probably null	Het
Rce1	T	C	19: 4,673,118 (GRCm39)	T303A	probably damaging	Het
Rnf123	C	A	9: 107,945,799 (GRCm39)	R329L	probably benign	Het
Robo2	T	A	16: 73,753,531 (GRCm39)	N782I	probably damaging	Het
Ror2	A	C	13: 53,264,272 (GRCm39)	V940G	probably benign	Het
Rpe65	C	T	3: 159,321,228 (GRCm39)	R347C	probably damaging	Het
Rrp8	A	T	7: 105,383,316 (GRCm39)	F317I	probably damaging	Het
Sidt1	A	G	16: 44,120,192 (GRCm39)	V163A	possibly damaging	Het
Sin3b	T	C	8: 73,474,498 (GRCm39)		probably null	Het
Slamf1	A	G	1: 171,604,757 (GRCm39)	T176A	probably benign	Het
Slc12a4	G	T	8: 106,671,855 (GRCm39)	A922D	probably damaging	Het
Slco1a5	T	A	6: 142,194,401 (GRCm39)	Q414L	probably benign	Het
Snx11	C	A	11: 96,663,665 (GRCm39)	R58L	probably damaging	Het
Sp9	A	G	2: 73,104,115 (GRCm39)	D223G	probably damaging	Het
Sptbn1	T	C	11: 30,087,119 (GRCm39)	I1107V	possibly damaging	Het
Stap2	T	C	17: 56,309,954 (GRCm39)	R66G	probably benign	Het
Synrg	T	G	11: 83,899,683 (GRCm39)	F552V	possibly damaging	Het
Trim60	C	T	8: 65,453,700 (GRCm39)	R183H	probably benign	Het
Ttn	T	C	2: 76,733,760 (GRCm39)	D4505G	unknown	Het
Ubxn4	A	G	1: 128,179,959 (GRCm39)	I34M	probably benign	Het
Vac14	T	A	8: 111,442,128 (GRCm39)	M702K	probably damaging	Het
Vmn1r43	T	C	6: 89,846,885 (GRCm39)	I200M	probably benign	Het
Vmn2r108	T	A	17: 20,701,338 (GRCm39)	Y54F	probably benign	Het
Vps13b	T	C	15: 35,640,780 (GRCm39)	Y1382H	probably damaging	Het
Wdr72	T	C	9: 74,117,754 (GRCm39)	I834T	probably damaging	Het
Zfp970	T	A	2: 177,167,085 (GRCm39)	C220S	probably damaging	Het
Zkscan5	T	G	5: 145,156,899 (GRCm39)	I467S	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
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
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
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'- CACTGCTTGGCATCAAAGATG -3'
(R):5'- GTGATAAGGCCTCACTCAACC -3'

Sequencing Primer
(F):5'- CTTGGCATCAAAGATGTAAGCC -3'
(R):5'- CCGTTTGATGAAGACGACCTC -3'

Posted On

2019-05-15