Mutagenetix > Incidental Mutation

Incidental Mutation 'R6619:Rab19'

524270

Institutional Source

Beutler Lab

Gene Symbol

Rab19

Ensembl Gene

ENSMUSG00000029923

Gene Name

RAB19, member RAS oncogene family

Synonyms

MMRRC Submission

044742-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6619 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39358109-39367314 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39365060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 107 (S107T)

Ref Sequence

ENSEMBL: ENSMUSP00000031986 (fasta)

Gene Model

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

AlphaFold

P35294

Predicted Effect

probably damaging
Transcript: ENSMUST00000031986
AA Change: S107T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031986
Gene: ENSMUSG00000029923
AA Change: S107T

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

Meta Mutation Damage Score

0.1886

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	G	A	16: 29,167,833 (GRCm39)	P109S	probably benign	Het
Baiap2l1	T	C	5: 144,222,916 (GRCm39)	K106R	probably benign	Het
Coro6	A	G	11: 77,357,030 (GRCm39)	I111V	possibly damaging	Het
Crocc2	A	G	1: 93,118,223 (GRCm39)	E382G	probably benign	Het
Dhrs7l	A	T	12: 72,668,724 (GRCm39)	N44K	possibly damaging	Het
Dnah5	C	A	15: 28,409,266 (GRCm39)	N3561K	probably benign	Het
Dsc2	T	A	18: 20,165,335 (GRCm39)	E879D	probably benign	Het
Frk	A	G	10: 34,481,835 (GRCm39)	Y375C	probably benign	Het
Herc2	A	T	7: 55,717,840 (GRCm39)	R61*	probably null	Het
Jarid2	A	G	13: 45,027,872 (GRCm39)	D146G	probably damaging	Het
Lancl2	C	A	6: 57,699,566 (GRCm39)	T127K	probably damaging	Het
Large1	G	A	8: 73,609,892 (GRCm39)	Q359*	probably null	Het
Mast2	C	A	4: 116,173,694 (GRCm39)	E521*	probably null	Het
Mrc1	T	A	2: 14,299,597 (GRCm39)		probably null	Het
Obi1	T	C	14: 104,759,993 (GRCm39)	H19R	possibly damaging	Het
Or4z4	A	G	19: 12,076,727 (GRCm39)	I92T	probably damaging	Het
Or5ak23	T	C	2: 85,244,425 (GRCm39)	N266S	probably benign	Het
Or6c38	A	T	10: 128,929,323 (GRCm39)	D173E	possibly damaging	Het
Or8k38	T	C	2: 86,488,406 (GRCm39)	Y132C	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
P2ry14	T	C	3: 59,023,154 (GRCm39)	Y102C	probably damaging	Het
Pcdhga6	T	A	18: 37,842,702 (GRCm39)	D807E	probably benign	Het
Pcdhgb4	T	A	18: 37,854,737 (GRCm39)	N377K	probably damaging	Het
Phf13	T	A	4: 152,076,114 (GRCm39)	N263Y	probably damaging	Het
Rasgrf2	A	T	13: 92,165,027 (GRCm39)	F380I	probably damaging	Het
Reep1	T	C	6: 71,784,826 (GRCm39)		probably benign	Het
Rpgrip1l	C	T	8: 91,959,499 (GRCm39)	E1134K	possibly damaging	Het
Serpina3m	A	T	12: 104,357,766 (GRCm39)	Y230F	probably benign	Het
Skint3	T	C	4: 112,111,061 (GRCm39)	I62T	probably damaging	Het
Smg6	T	C	11: 74,823,279 (GRCm39)		probably null	Het
Sp4	G	A	12: 118,263,077 (GRCm39)	T323I	possibly damaging	Het
Strc	A	G	2: 121,198,913 (GRCm39)	I1378T	probably damaging	Het
Tepsin	C	T	11: 119,986,428 (GRCm39)	G128D	probably benign	Het
Togaram2	A	G	17: 71,996,266 (GRCm39)	N89D	probably damaging	Het
Trim36	T	C	18: 46,321,475 (GRCm39)	T191A	probably damaging	Het
Trp53bp1	A	T	2: 121,077,980 (GRCm39)		probably null	Het
Zfp418	G	A	7: 7,184,895 (GRCm39)	C286Y	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
R3796:Rab19	UTSW	6	39,360,975 (GRCm39)	missense	probably benign	0.01
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
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'- ATTTGCTGTACGTGCCTCTG -3'
(R):5'- GCTCTCAGACACTCAGGATC -3'

Sequencing Primer
(F):5'- TTCAGACTTGGCAGTAGCAC -3'
(R):5'- GGATCTCATAATCCACTACTGAGG -3'

Posted On

2018-06-22