Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02656:Rab12'

302341

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab12

Ensembl Gene

ENSMUSG00000023460

Gene Name

RAB12, member RAS oncogene family

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02656

Quality Score

Status

Chromosome

Chromosomal Location

66494512-66519717 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66506054 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 88 (K88M)

Ref Sequence

ENSEMBL: ENSMUSP00000128645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070538] [ENSMUST00000167962]

Predicted Effect

probably damaging
Transcript: ENSMUST00000070538
AA Change: K136M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070134
Gene: ENSMUSG00000023460
AA Change: K136M

Domain	Start	End	E-Value	Type
low complexity region	25	45	N/A	INTRINSIC
low complexity region	75	86	N/A	INTRINSIC
RAB	90	254	2.49e-97	SMART
low complexity region	273	286	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146279

Predicted Effect

probably damaging
Transcript: ENSMUST00000167962
AA Change: K88M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128645
Gene: ENSMUSG00000023460
AA Change: K88M

Domain	Start	End	E-Value	Type
low complexity region	27	38	N/A	INTRINSIC
RAB	42	206	2.49e-97	SMART
low complexity region	225	238	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	G	T	14: 31,702,240	A981D	possibly damaging	Het
Ccdc69	G	T	11: 55,052,437	Q114K	possibly damaging	Het
Cct5	A	T	15: 31,597,430	D66E	probably damaging	Het
Ces2e	G	T	8: 104,927,056	R42I	possibly damaging	Het
Cib2	T	G	9: 54,545,898	D178A	probably damaging	Het
Cldn7	G	A	11: 69,967,008	V97I	probably benign	Het
Dok3	A	T	13: 55,528,480	I12N	probably damaging	Het
Fndc5	T	A	4: 129,139,446	V102E	probably damaging	Het
Gas2	T	C	7: 51,943,744	S191P	probably benign	Het
Herc6	T	A	6: 57,611,836		probably null	Het
Krt18	A	G	15: 102,030,922	T277A	probably benign	Het
Mpp3	A	G	11: 102,008,601	S365P	probably benign	Het
Msmo1	T	C	8: 64,727,872	T3A	probably benign	Het
Olfr1509	G	T	14: 52,450,709	A99S	possibly damaging	Het
Olfr1537	T	A	9: 39,238,160	E88V	probably benign	Het
Olfr394	A	G	11: 73,888,039	F111S	probably damaging	Het
Pex19	C	A	1: 172,130,685	A77E	probably benign	Het
Phf20l1	A	G	15: 66,629,827	D620G	probably damaging	Het
Prr5	A	G	15: 84,699,136	D105G	probably damaging	Het
Rictor	T	C	15: 6,776,920	V673A	probably damaging	Het
Rps26	A	G	10: 128,625,257	S88P	possibly damaging	Het
Sema5a	T	A	15: 32,631,285	S605T	possibly damaging	Het
Slc35a4	T	C	18: 36,682,447	M110T	probably damaging	Het
Sowahb	T	C	5: 93,043,247	S538G	probably benign	Het
Srrt	T	A	5: 137,299,676		probably benign	Het
Ssbp2	G	A	13: 91,669,752		probably benign	Het
Supt20	C	T	3: 54,708,395	R236W	probably damaging	Het
Tenm4	A	G	7: 96,885,433	D1791G	probably damaging	Het
Tgm6	G	A	2: 130,145,103	G497D	probably damaging	Het
Trim12c	C	T	7: 104,341,203	V356I	probably damaging	Het
Vwce	T	A	19: 10,664,352	I814K	probably benign	Het

Other mutations in Rab12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01533:Rab12	APN	17	66497435	missense	probably damaging	0.97
IGL01541:Rab12	APN	17	66497409	missense	probably damaging	1.00
IGL01702:Rab12	APN	17	66519389	missense	probably damaging	1.00
IGL02373:Rab12	APN	17	66498065	missense	probably damaging	1.00
IGL02826:Rab12	APN	17	66498116	splice site	probably benign
R0165:Rab12	UTSW	17	66500317	missense	probably damaging	1.00
R0193:Rab12	UTSW	17	66500362	missense	probably damaging	1.00
R1716:Rab12	UTSW	17	66500320	missense	possibly damaging	0.89
R4039:Rab12	UTSW	17	66500401	missense	possibly damaging	0.70
R4863:Rab12	UTSW	17	66498108	missense	probably damaging	1.00
R5568:Rab12	UTSW	17	66497423	missense	probably damaging	1.00

Posted On

2015-04-16