Mutagenetix > Incidental Mutation

Incidental Mutation 'R1120:Rab5b'

95524

Institutional Source

Beutler Lab

Gene Symbol

Rab5b

Ensembl Gene

ENSMUSG00000000711

Gene Name

RAB5B, member RAS oncogene family

Synonyms

C030027M18Rik

MMRRC Submission

039193-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1120 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128513044-128532133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 128515483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 188 (N188K)

Ref Sequence

ENSEMBL: ENSMUSP00000000727 (fasta)

Gene Model

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

AlphaFold

P61021

Predicted Effect

probably benign
Transcript: ENSMUST00000000727
AA Change: N188K

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000000727
Gene: ENSMUSG00000000711
AA Change: N188K

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

0.0598

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	G	5: 24,613,818 (GRCm39)		probably null	Het
Akp3	A	T	1: 87,053,159 (GRCm39)	Q77L	probably damaging	Het
Blm	A	G	7: 80,131,214 (GRCm39)	L878S	probably damaging	Het
Cabin1	A	G	10: 75,561,550 (GRCm39)	Y984H	probably damaging	Het
Cadps2	T	C	6: 23,838,793 (GRCm39)	Q86R	probably damaging	Het
Cd2	C	T	3: 101,194,804 (GRCm39)	D95N	probably damaging	Het
Cd36	A	G	5: 17,990,826 (GRCm39)	I438T	possibly damaging	Het
Crhbp	G	T	13: 95,578,593 (GRCm39)	T176K	probably benign	Het
D630045J12Rik	G	T	6: 38,171,705 (GRCm39)	T821K	probably damaging	Het
Disp1	T	C	1: 182,880,139 (GRCm39)	D288G	probably benign	Het
Dsc3	A	G	18: 20,120,034 (GRCm39)	V208A	probably benign	Het
Eef1e1	A	T	13: 38,842,910 (GRCm39)	N20K	probably damaging	Het
Ercc5	A	G	1: 44,201,001 (GRCm39)	D187G	probably damaging	Het
Etl4	T	A	2: 20,811,514 (GRCm39)	M1199K	probably benign	Het
Fnbp1	A	T	2: 30,926,606 (GRCm39)	Y433N	probably damaging	Het
Fxyd3	A	G	7: 30,770,803 (GRCm39)		probably benign	Het
Hfm1	A	T	5: 107,052,084 (GRCm39)		probably benign	Het
Irak2	T	A	6: 113,652,720 (GRCm39)		probably benign	Het
Jpt2	T	C	17: 25,179,585 (GRCm39)	M1V	probably null	Het
Knl1	A	G	2: 118,892,856 (GRCm39)	R51G	probably damaging	Het
Krtap8-1	A	G	16: 89,284,753 (GRCm39)	Y15H	probably benign	Het
Lrba	A	T	3: 86,202,499 (GRCm39)	D250V	probably damaging	Het
Mgat4a	A	G	1: 37,491,662 (GRCm39)	S357P	probably damaging	Het
Nup98	T	A	7: 101,809,923 (GRCm39)	T536S	probably damaging	Het
Or4a27	A	G	2: 88,559,281 (GRCm39)	Y221H	probably damaging	Het
Or4c109	A	G	2: 88,818,423 (GRCm39)	M41T	possibly damaging	Het
Or9k2	A	G	10: 129,998,406 (GRCm39)	L263P	probably damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pnpla8	A	G	12: 44,351,730 (GRCm39)	T568A	possibly damaging	Het
Ptprn	A	G	1: 75,234,825 (GRCm39)	I254T	probably benign	Het
Samd5	A	G	10: 9,504,792 (GRCm39)	V154A	possibly damaging	Het
Smarcb1	A	G	10: 75,757,157 (GRCm39)	F25L	probably benign	Het
Smchd1	A	T	17: 71,665,141 (GRCm39)	Y1847*	probably null	Het
Smpd4	T	C	16: 17,456,350 (GRCm39)		probably benign	Het
Tex14	T	A	11: 87,429,502 (GRCm39)		probably benign	Het
Tnfrsf26	G	A	7: 143,171,651 (GRCm39)	R101C	probably damaging	Het
Trmu	A	G	15: 85,774,486 (GRCm39)	K37E	possibly damaging	Het
Tsen54	C	T	11: 115,705,839 (GRCm39)	A52V	probably damaging	Het
Ubb	T	C	11: 62,443,009 (GRCm39)	I13T	possibly damaging	Het
Vmn2r101	A	T	17: 19,797,723 (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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTCACTGTCTTGCACCTAGAACAC -3'
(R):5'- ACTTGCTTGGTAACGTCCATCCTTG -3'

Sequencing Primer
(F):5'- TCTTGCACCTAGAACACGAAGTG -3'
(R):5'- GGTGGCAGCTTTAGCTCTC -3'

Posted On

2014-01-05