Mutagenetix > Incidental Mutation

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

2900054P15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02656

Quality Score

Status

Chromosome

Chromosomal Location

66801507-66826712 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66813049 bp (GRCm39)

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]

AlphaFold

P35283

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: 31,424,197 (GRCm39)	A981D	possibly damaging	Het
Ccdc69	G	T	11: 54,943,263 (GRCm39)	Q114K	possibly damaging	Het
Cct5	A	T	15: 31,597,576 (GRCm39)	D66E	probably damaging	Het
Ces2e	G	T	8: 105,653,688 (GRCm39)	R42I	possibly damaging	Het
Cib2	T	G	9: 54,453,182 (GRCm39)	D178A	probably damaging	Het
Cldn7	G	A	11: 69,857,834 (GRCm39)	V97I	probably benign	Het
Dok3	A	T	13: 55,676,293 (GRCm39)	I12N	probably damaging	Het
Fndc5	T	A	4: 129,033,239 (GRCm39)	V102E	probably damaging	Het
Gas2	T	C	7: 51,593,492 (GRCm39)	S191P	probably benign	Het
Herc6	T	A	6: 57,588,821 (GRCm39)		probably null	Het
Krt18	A	G	15: 101,939,357 (GRCm39)	T277A	probably benign	Het
Mpp3	A	G	11: 101,899,427 (GRCm39)	S365P	probably benign	Het
Msmo1	T	C	8: 65,180,906 (GRCm39)	T3A	probably benign	Het
Or1e34	A	G	11: 73,778,865 (GRCm39)	F111S	probably damaging	Het
Or4e2	G	T	14: 52,688,166 (GRCm39)	A99S	possibly damaging	Het
Or8g18	T	A	9: 39,149,456 (GRCm39)	E88V	probably benign	Het
Pex19	C	A	1: 171,958,252 (GRCm39)	A77E	probably benign	Het
Phf20l1	A	G	15: 66,501,676 (GRCm39)	D620G	probably damaging	Het
Prr5	A	G	15: 84,583,337 (GRCm39)	D105G	probably damaging	Het
Rictor	T	C	15: 6,806,401 (GRCm39)	V673A	probably damaging	Het
Rps26	A	G	10: 128,461,126 (GRCm39)	S88P	possibly damaging	Het
Sema5a	T	A	15: 32,631,431 (GRCm39)	S605T	possibly damaging	Het
Slc35a4	T	C	18: 36,815,500 (GRCm39)	M110T	probably damaging	Het
Sowahb	T	C	5: 93,191,106 (GRCm39)	S538G	probably benign	Het
Srrt	T	A	5: 137,297,938 (GRCm39)		probably benign	Het
Ssbp2	G	A	13: 91,817,871 (GRCm39)		probably benign	Het
Supt20	C	T	3: 54,615,816 (GRCm39)	R236W	probably damaging	Het
Tenm4	A	G	7: 96,534,640 (GRCm39)	D1791G	probably damaging	Het
Tgm6	G	A	2: 129,987,023 (GRCm39)	G497D	probably damaging	Het
Trim12c	C	T	7: 103,990,410 (GRCm39)	V356I	probably damaging	Het
Vwce	T	A	19: 10,641,716 (GRCm39)	I814K	probably benign	Het

Other mutations in Rab12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01533:Rab12	APN	17	66,804,430 (GRCm39)	missense	probably damaging	0.97
IGL01541:Rab12	APN	17	66,804,404 (GRCm39)	missense	probably damaging	1.00
IGL01702:Rab12	APN	17	66,826,384 (GRCm39)	missense	probably damaging	1.00
IGL02373:Rab12	APN	17	66,805,060 (GRCm39)	missense	probably damaging	1.00
IGL02826:Rab12	APN	17	66,805,111 (GRCm39)	splice site	probably benign
R0165:Rab12	UTSW	17	66,807,312 (GRCm39)	missense	probably damaging	1.00
R0193:Rab12	UTSW	17	66,807,357 (GRCm39)	missense	probably damaging	1.00
R1716:Rab12	UTSW	17	66,807,315 (GRCm39)	missense	possibly damaging	0.89
R4039:Rab12	UTSW	17	66,807,396 (GRCm39)	missense	possibly damaging	0.70
R4863:Rab12	UTSW	17	66,805,103 (GRCm39)	missense	probably damaging	1.00
R5568:Rab12	UTSW	17	66,804,418 (GRCm39)	missense	probably damaging	1.00
R9645:Rab12	UTSW	17	66,826,421 (GRCm39)	missense	probably damaging	1.00
R9686:Rab12	UTSW	17	66,826,513 (GRCm39)	missense	probably benign	0.06

Posted On

2015-04-16