Mutagenetix > Incidental Mutation

Incidental Mutation 'R3796:Rab19'

272759

Institutional Source

Beutler Lab

Gene Symbol

Rab19

Ensembl Gene

ENSMUSG00000029923

Gene Name

RAB19, member RAS oncogene family

Synonyms

MMRRC Submission

040757-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3796 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39358109-39367314 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39360975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 41 (V41A)

Ref Sequence

ENSEMBL: ENSMUSP00000031986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031986]

AlphaFold

P35294

Predicted Effect

probably benign
Transcript: ENSMUST00000031986
AA Change: V41A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000031986
Gene: ENSMUSG00000029923
AA Change: V41A

Domain	Start	End	E-Value	Type
RAB	18	182	3.39e-99	SMART

Meta Mutation Damage Score

0.0603

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	A	G	7: 66,489,662 (GRCm39)		probably null	Het
Alpk3	C	A	7: 80,742,501 (GRCm39)	P773T	probably benign	Het
Alppl2	A	G	1: 87,016,076 (GRCm39)		probably null	Het
Armh3	A	G	19: 45,910,049 (GRCm39)		probably benign	Het
Basp1	C	A	15: 25,364,398 (GRCm39)		probably benign	Het
Clec14a	G	A	12: 58,314,695 (GRCm39)	A309V	probably benign	Het
Clk2	A	G	3: 89,082,996 (GRCm39)	N424S	probably benign	Het
Cops7a	C	T	6: 124,936,795 (GRCm39)	R252H	probably damaging	Het
Csmd2	C	T	4: 128,411,388 (GRCm39)	P2469S	probably benign	Het
Cwf19l1	A	G	19: 44,103,006 (GRCm39)	V403A	probably damaging	Het
Dnajc16	G	T	4: 141,495,048 (GRCm39)	D521E	probably benign	Het
Dnm2	T	C	9: 21,416,783 (GRCm39)	V772A	probably benign	Het
Dst	G	T	1: 34,220,996 (GRCm39)	V2267F	probably benign	Het
Eif3d	A	G	15: 77,852,769 (GRCm39)	F4S	probably damaging	Het
Fgfr1	G	A	8: 26,062,453 (GRCm39)	D663N	probably damaging	Het
Hmcn1	A	G	1: 150,462,169 (GRCm39)	Y5170H	probably damaging	Het
Kcna2	T	A	3: 107,012,906 (GRCm39)	L496I	probably benign	Het
Krt8	T	C	15: 101,907,877 (GRCm39)	I233V	probably benign	Het
Mfap1b	A	G	2: 121,304,386 (GRCm39)	V3A	probably benign	Het
Phrf1	C	T	7: 140,839,831 (GRCm39)	R243*	probably null	Het
Plbd2	A	T	5: 120,630,933 (GRCm39)	I224N	probably damaging	Het
Rrm1	T	A	7: 102,114,910 (GRCm39)		probably null	Het
Sacs	T	C	14: 61,443,570 (GRCm39)	V1872A	possibly damaging	Het
Setd2	T	C	9: 110,378,639 (GRCm39)	V818A	probably benign	Het
Shprh	C	T	10: 11,054,501 (GRCm39)	L1037F	possibly damaging	Het
Slc24a3	A	G	2: 145,458,601 (GRCm39)	D527G	probably damaging	Het
Slc27a6	T	C	18: 58,731,823 (GRCm39)		probably benign	Het
Slc35g3	A	G	11: 69,651,743 (GRCm39)	F103L	probably benign	Het
Slc5a1	A	G	5: 33,309,996 (GRCm39)	D408G	probably damaging	Het
Spag6l	A	T	16: 16,580,916 (GRCm39)	I477N	probably damaging	Het
Srgap1	A	G	10: 121,883,037 (GRCm39)	V21A	probably benign	Het
Trim7	A	G	11: 48,736,497 (GRCm39)		probably null	Het
Trpa1	T	C	1: 14,963,488 (GRCm39)	N578S	possibly damaging	Het
Xdh	T	C	17: 74,214,653 (GRCm39)	E764G	probably damaging	Het
Zfp518a	G	T	19: 40,903,754 (GRCm39)	V1228F	probably damaging	Het

Other mutations in Rab19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Rab19	APN	6	39,365,132 (GRCm39)	splice site	probably benign
IGL02188:Rab19	APN	6	39,360,968 (GRCm39)	missense	probably benign	0.10
IGL02452:Rab19	APN	6	39,366,732 (GRCm39)	missense	probably benign
IGL03027:Rab19	APN	6	39,360,927 (GRCm39)	missense	probably damaging	1.00
R0009:Rab19	UTSW	6	39,366,621 (GRCm39)	missense	probably damaging	1.00
R0312:Rab19	UTSW	6	39,361,023 (GRCm39)	missense	probably benign	0.02
R0726:Rab19	UTSW	6	39,360,893 (GRCm39)	missense	probably benign	0.00
R1727:Rab19	UTSW	6	39,365,095 (GRCm39)	nonsense	probably null
R1954:Rab19	UTSW	6	39,361,016 (GRCm39)	missense	probably benign	0.06
R2169:Rab19	UTSW	6	39,360,975 (GRCm39)	missense	possibly damaging	0.49
R4465:Rab19	UTSW	6	39,365,060 (GRCm39)	missense	probably damaging	1.00
R5977:Rab19	UTSW	6	39,360,860 (GRCm39)	missense	probably benign	0.07
R6619:Rab19	UTSW	6	39,365,060 (GRCm39)	missense	probably damaging	0.99
R7489:Rab19	UTSW	6	39,365,039 (GRCm39)	missense	probably benign	0.09
R8385:Rab19	UTSW	6	39,360,892 (GRCm39)	missense	probably benign	0.00
R9414:Rab19	UTSW	6	39,360,855 (GRCm39)	start codon destroyed	probably null	0.43

Predicted Primers

PCR Primer
(F):5'- CAAGAAAATGAAGGTAATCTCAGCC -3'
(R):5'- GACTGCAGAAATTATGACCTTTAGG -3'

Sequencing Primer
(F):5'- TGAAGGTAATCTCAGCCCTGGATC -3'
(R):5'- GACTCTGGCCAACTAAAG -3'

Posted On

2015-03-25