Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02452:Rab19'

293713

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab19

Ensembl Gene

ENSMUSG00000029923

Gene Name

RAB19, member RAS oncogene family

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02452

Quality Score

Status

Chromosome

Chromosomal Location

39381175-39390380 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39389798 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 216 (T216A)

Ref Sequence

ENSEMBL: ENSMUSP00000031986 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000031986
AA Change: T216A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031986
Gene: ENSMUSG00000029923
AA Change: T216A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	C	A	3: 153,941,970	V11F	probably damaging	Het
Alk	A	T	17: 71,902,625	Y941*	probably null	Het
Armc4	C	T	18: 7,129,461	E906K	probably damaging	Het
Blm	A	T	7: 80,503,377		probably null	Het
Blvrb	T	C	7: 27,459,340	V55A	possibly damaging	Het
Cdh23	T	A	10: 60,317,942	T2288S	probably damaging	Het
Csnk1g1	T	A	9: 66,007,785	M242K	probably damaging	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Cyp2d26	T	A	15: 82,792,626	H173L	probably benign	Het
Cyp2g1	T	A	7: 26,811,446	S131T	probably benign	Het
Dupd1	G	A	14: 21,702,922	T52I	probably damaging	Het
Dzip3	T	A	16: 48,938,537		probably benign	Het
Espl1	T	C	15: 102,299,839	S427P	probably damaging	Het
Fasn	A	T	11: 120,808,180	D2424E	probably benign	Het
Flrt2	G	A	12: 95,779,483	M198I	probably benign	Het
Gen1	A	T	12: 11,242,575	S404R	probably benign	Het
Gm11596	A	T	11: 99,792,980	C105S	unknown	Het
Gm8765	A	T	13: 50,703,077	H917L	probably damaging	Het
Hdlbp	A	T	1: 93,417,511	V714D	probably damaging	Het
Igkv4-80	A	G	6: 69,016,832	V25A	probably benign	Het
Igkv8-27	C	T	6: 70,171,941	W76*	probably null	Het
Ikzf1	T	C	11: 11,748,545	L132P	probably damaging	Het
Kcna6	C	A	6: 126,738,480	C482F	possibly damaging	Het
Lhx9	A	T	1: 138,841,842	L47Q	probably damaging	Het
Lrp4	T	A	2: 91,474,002	D175E	probably damaging	Het
Lrrtm3	T	C	10: 64,088,036	K451E	probably damaging	Het
Mcm9	C	T	10: 53,541,557	V17M	probably damaging	Het
Mios	T	A	6: 8,222,492	S475R	probably benign	Het
Mmp24	C	T	2: 155,815,788	R533C	probably damaging	Het
Moxd1	C	T	10: 24,282,752	P435S	probably damaging	Het
Mta2	T	A	19: 8,950,306	I497N	probably benign	Het
Mtus2	T	C	5: 148,077,663	V422A	probably benign	Het
Ndufaf1	A	T	2: 119,656,426	F260Y	probably damaging	Het
Nfasc	C	T	1: 132,620,924		probably null	Het
Nid1	A	T	13: 13,508,720	T1128S	probably benign	Het
Olfr583	A	G	7: 103,051,931	D211G	probably benign	Het
Pcdh12	G	A	18: 38,281,693	P793L	probably benign	Het
Pclo	A	T	5: 14,676,966		probably benign	Het
Prpf31	T	A	7: 3,634,186	N161K	possibly damaging	Het
Prpf6	T	G	2: 181,649,085	N656K	probably benign	Het
Ptprn	T	A	1: 75,258,169	H258L	probably benign	Het
Ryr3	A	C	2: 112,833,990	L1652W	probably damaging	Het
Six2	A	C	17: 85,685,378	S232R	possibly damaging	Het
Spag17	T	C	3: 100,027,391	V663A	probably benign	Het
Spag5	A	G	11: 78,304,623	N252S	probably benign	Het
Sptb	C	T	12: 76,609,036		probably null	Het
Synj1	A	G	16: 90,961,365		probably benign	Het
Tekt2	T	C	4: 126,324,852	H36R	possibly damaging	Het
Tjp1	A	T	7: 65,312,655	M1258K	probably damaging	Het
Txnrd3	T	C	6: 89,674,795	*502Q	probably null	Het

Other mutations in Rab19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Rab19	APN	6	39388198	splice site	probably benign
IGL02188:Rab19	APN	6	39384034	missense	probably benign	0.10
IGL03027:Rab19	APN	6	39383993	missense	probably damaging	1.00
R0009:Rab19	UTSW	6	39389687	missense	probably damaging	1.00
R0312:Rab19	UTSW	6	39384089	missense	probably benign	0.02
R0726:Rab19	UTSW	6	39383959	missense	probably benign	0.00
R1727:Rab19	UTSW	6	39388161	nonsense	probably null
R1954:Rab19	UTSW	6	39384082	missense	probably benign	0.06
R2169:Rab19	UTSW	6	39384041	missense	possibly damaging	0.49
R3796:Rab19	UTSW	6	39384041	missense	probably benign	0.01
R4465:Rab19	UTSW	6	39388126	missense	probably damaging	1.00
R5977:Rab19	UTSW	6	39383926	missense	probably benign	0.07
R6619:Rab19	UTSW	6	39388126	missense	probably damaging	0.99
R7489:Rab19	UTSW	6	39388105	missense	probably benign	0.09
R8385:Rab19	UTSW	6	39383958	missense	probably benign	0.00

Posted On

2015-04-16