Mutagenetix > Incidental Mutation

Incidental Mutation 'R8496:Rab5b'

658280

Institutional Source

Beutler Lab

Gene Symbol

Rab5b

Ensembl Gene

ENSMUSG00000000711

Gene Name

RAB5B, member RAS oncogene family

Synonyms

C030027M18Rik

MMRRC Submission

067938-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8496 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128513044-128532133 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 128518776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 119 (Q119*)

Ref Sequence

ENSEMBL: ENSMUSP00000000727 (fasta)

Gene Model

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

AlphaFold

P61021

Predicted Effect

probably null
Transcript: ENSMUST00000000727
AA Change: Q119*

SMART Domains

Protein: ENSMUSP00000000727
Gene: ENSMUSG00000000711
AA Change: Q119*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	G	5: 138,645,120 (GRCm39)	E335G	probably benign	Het
Afp	C	T	5: 90,639,572 (GRCm39)	S34F	probably damaging	Het
Ano6	T	A	15: 95,847,807 (GRCm39)	I639N	probably damaging	Het
Atp13a1	T	G	8: 70,250,618 (GRCm39)	V411G	probably damaging	Het
Cadm2	A	T	16: 66,461,309 (GRCm39)	C383S	probably damaging	Het
Capn2	T	C	1: 182,304,840 (GRCm39)	I556V	probably benign	Het
Cd34	A	G	1: 194,642,089 (GRCm39)	E322G	probably benign	Het
Cel	T	C	2: 28,446,200 (GRCm39)	D557G	probably benign	Het
Cemip	T	C	7: 83,600,634 (GRCm39)	I996V	probably benign	Het
Clca3a1	A	T	3: 144,453,182 (GRCm39)	*514R	probably null	Het
Cry2	C	G	2: 92,257,284 (GRCm39)	R95P	probably damaging	Het
Ctse	T	A	1: 131,592,118 (GRCm39)	I148N	probably damaging	Het
Cyp4f13	G	C	17: 33,143,833 (GRCm39)	P497R	probably damaging	Het
Dsn1	C	T	2: 156,839,640 (GRCm39)	V254M	probably benign	Het
Fcgbpl1	A	G	7: 27,843,377 (GRCm39)	D755G	possibly damaging	Het
Gm4847	T	A	1: 166,469,761 (GRCm39)	H104L	possibly damaging	Het
Gpr88	T	C	3: 116,046,117 (GRCm39)	T65A	possibly damaging	Het
Gtse1	A	G	15: 85,746,283 (GRCm39)	D33G	probably damaging	Het
Ints6	A	G	14: 62,943,325 (GRCm39)	Y455H	probably benign	Het
Kctd1	A	T	18: 15,107,228 (GRCm39)	C150S	probably damaging	Het
Kctd11	T	G	11: 69,770,877 (GRCm39)	T54P	probably damaging	Het
Kif1b	C	A	4: 149,277,068 (GRCm39)	G56*	probably null	Het
Kifap3	T	A	1: 163,656,866 (GRCm39)		probably null	Het
Naip5	G	T	13: 100,349,247 (GRCm39)	H1360Q	probably benign	Het
Ncapd2	T	C	6: 125,147,127 (GRCm39)	E1198G	probably damaging	Het
Nova1	T	A	12: 46,760,325 (GRCm39)	K90*	probably null	Het
Odc1	T	A	12: 17,598,396 (GRCm39)	L179H	probably damaging	Het
Or10w1	T	A	19: 13,632,388 (GRCm39)	H193Q	probably damaging	Het
Or1ad8	T	C	11: 50,897,877 (GRCm39)	V26A	probably benign	Het
Or1s2	A	G	19: 13,758,384 (GRCm39)	N136S	probably benign	Het
Palm	C	T	10: 79,642,485 (GRCm39)	T6I	probably benign	Het
Parp10	T	A	15: 76,117,749 (GRCm39)	D879V	probably damaging	Het
Phf2	A	G	13: 48,971,181 (GRCm39)	V497A	unknown	Het
Pparg	A	G	6: 115,440,112 (GRCm39)	I199V	probably benign	Het
Ppm1b	T	A	17: 85,301,660 (GRCm39)	I180N	probably damaging	Het
Prdx5	A	T	19: 6,885,542 (GRCm39)	C37*	probably null	Het
Ptprz1	A	T	6: 22,972,797 (GRCm39)	T236S	probably damaging	Het
Rdh19	T	A	10: 127,695,469 (GRCm39)	W228R	probably damaging	Het
Schip1	G	T	3: 68,401,946 (GRCm39)	G36C	probably damaging	Het
Secisbp2	T	C	13: 51,819,383 (GRCm39)	V321A	probably damaging	Het
Slc6a5	T	A	7: 49,585,960 (GRCm39)	V426D	probably damaging	Het
Syne1	T	A	10: 5,178,896 (GRCm39)	E4526V	probably damaging	Het
Syne1	T	C	10: 5,268,441 (GRCm39)	K2083E	probably damaging	Het
Tecta	T	A	9: 42,241,547 (GRCm39)	I2143F	probably benign	Het
Tfap4	T	C	16: 4,369,170 (GRCm39)	D90G	probably damaging	Het
Ttll12	T	C	15: 83,462,010 (GRCm39)	Y569C	probably damaging	Het
Zfp326	T	G	5: 106,036,451 (GRCm39)	S121A	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCATTTGGTCACACTGTTGCTG -3'
(R):5'- AGGTGCAGGTTGTCAGAGAC -3'

Sequencing Primer
(F):5'- ACACTGTTGCTGTATCTAATCTGG -3'
(R):5'- CAGGTTGTCAGAGACCTATGATTTC -3'

Posted On

2021-01-18