Mutagenetix > Incidental Mutation

Incidental Mutation 'R0097:Rab5b'

16846

Institutional Source

Beutler Lab

Gene Symbol

Rab5b

Ensembl Gene

ENSMUSG00000000711

Gene Name

RAB5B, member RAS oncogene family

Synonyms

C030027M18Rik

MMRRC Submission

038383-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0097 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

128513044-128532133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128518809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 108 (F108I)

Ref Sequence

ENSEMBL: ENSMUSP00000000727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000727]

AlphaFold

P61021

Predicted Effect

probably damaging
Transcript: ENSMUST00000000727
AA Change: F108I

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

SMART Domains

Protein: ENSMUSP00000000727
Gene: ENSMUSG00000000711
AA Change: F108I

Domain	Start	End	E-Value	Type
RAB	21	184	1.7e-90	SMART
low complexity region	204	215	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220593

Meta Mutation Damage Score

0.7704

Coding Region Coverage

1x: 89.4%
3x: 86.4%
10x: 78.0%
20x: 64.9%

Validation Efficiency

86% (56/65)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,206,129 (GRCm39)	I353K	probably benign	Het
Albfm1	T	A	5: 90,732,795 (GRCm39)	S535R	probably benign	Het
Arfgap2	T	A	2: 91,105,160 (GRCm39)	V422E	probably benign	Het
Baz1b	T	C	5: 135,227,113 (GRCm39)	S105P	probably benign	Het
Cacna1s	T	A	1: 136,028,360 (GRCm39)	M899K	possibly damaging	Het
Ccnd2	G	A	6: 127,123,015 (GRCm39)	A180V	probably benign	Het
Ciao3	T	C	17: 25,995,976 (GRCm39)	S67P	possibly damaging	Het
Dmrta1	A	T	4: 89,577,109 (GRCm39)	R188S	probably benign	Het
Eml3	T	A	19: 8,914,015 (GRCm39)	F465L	probably benign	Het
Gm9938	T	A	19: 23,701,828 (GRCm39)		probably benign	Het
Gpr87	G	A	3: 59,086,506 (GRCm39)	T333I	probably damaging	Het
Lzic	A	G	4: 149,572,533 (GRCm39)	E41G	probably damaging	Het
Mprip	T	A	11: 59,649,317 (GRCm39)	L1007Q	possibly damaging	Het
Mtfr2	T	A	10: 20,224,122 (GRCm39)	S19T	probably damaging	Het
Mycbp2	A	T	14: 103,393,198 (GRCm39)	M3121K	probably damaging	Het
Myocd	T	A	11: 65,069,840 (GRCm39)	M667L	possibly damaging	Het
Neb	T	C	2: 52,094,906 (GRCm39)	N4882S	probably damaging	Het
Neo1	T	C	9: 58,882,021 (GRCm38)		probably benign	Het
Neu2	A	G	1: 87,525,188 (GRCm39)	D391G	probably benign	Het
Nol4	C	A	18: 22,852,198 (GRCm39)	A456S	probably benign	Het
Or5m13	T	C	2: 85,749,184 (GRCm39)	V305A	probably benign	Het
Padi6	C	T	4: 140,458,268 (GRCm39)	V513M	probably benign	Het
Prss38	A	G	11: 59,266,434 (GRCm39)	L8S	possibly damaging	Het
Ryr3	T	C	2: 112,630,400 (GRCm39)	D2157G	probably damaging	Het
Secisbp2l	T	C	2: 125,613,376 (GRCm39)	D206G	probably damaging	Het
Sh3pxd2b	T	A	11: 32,353,978 (GRCm39)	I182N	probably damaging	Het
Slc3a1	A	T	17: 85,340,288 (GRCm39)	I237F	probably damaging	Het
St6galnac6	T	C	2: 32,489,814 (GRCm39)	L8P	probably damaging	Het
T	A	T	17: 8,658,733 (GRCm39)		probably benign	Het
Tenm4	A	T	7: 96,542,133 (GRCm39)	D1882V	probably damaging	Het
Tgfbr1	T	A	4: 47,403,451 (GRCm39)	L283*	probably null	Het
Ubp1	T	C	9: 113,802,575 (GRCm39)		probably benign	Het
Ushbp1	C	T	8: 71,843,357 (GRCm39)	C314Y	probably damaging	Het
Vav2	A	T	2: 27,189,374 (GRCm39)		probably benign	Het
Vmn1r228	T	C	17: 20,996,625 (GRCm39)	M298V	probably benign	Het
Zmpste24	A	T	4: 120,952,740 (GRCm39)		probably benign	Het

Other mutations in Rab5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0038:Rab5b	UTSW	10	128,518,772 (GRCm39)	missense	probably benign	0.05
R0097:Rab5b	UTSW	10	128,518,809 (GRCm39)	missense	probably damaging	1.00
R0276:Rab5b	UTSW	10	128,522,615 (GRCm39)	critical splice donor site	probably null
R0366:Rab5b	UTSW	10	128,518,772 (GRCm39)	missense	probably benign	0.05
R0367:Rab5b	UTSW	10	128,518,772 (GRCm39)	missense	probably benign	0.05
R0368:Rab5b	UTSW	10	128,518,772 (GRCm39)	missense	probably benign	0.05
R1120:Rab5b	UTSW	10	128,515,483 (GRCm39)	missense	probably benign	0.02
R1645:Rab5b	UTSW	10	128,522,695 (GRCm39)	missense	possibly damaging	0.95
R4624:Rab5b	UTSW	10	128,519,130 (GRCm39)	missense	probably benign	0.27
R7107:Rab5b	UTSW	10	128,519,062 (GRCm39)	critical splice donor site	probably null
R7645:Rab5b	UTSW	10	128,517,260 (GRCm39)	missense	possibly damaging	0.95
R8496:Rab5b	UTSW	10	128,518,776 (GRCm39)	nonsense	probably null
R8744:Rab5b	UTSW	10	128,518,751 (GRCm39)	missense	probably damaging	1.00
R9211:Rab5b	UTSW	10	128,519,063 (GRCm39)	critical splice donor site	probably null
R9774:Rab5b	UTSW	10	128,522,658 (GRCm39)	missense	probably benign	0.18

Posted On

2013-01-20