Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02826:Rab12'

361237

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 #

IGL02826

Quality Score

Status

Chromosome

Chromosomal Location

66801507-66826712 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 66805111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128645 (fasta)

Gene Model

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

AlphaFold

P35283

Predicted Effect

probably benign
Transcript: ENSMUST00000070538

SMART Domains

Protein: ENSMUSP00000070134
Gene: ENSMUSG00000023460

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: ENSMUST00000155026

Predicted Effect

probably benign
Transcript: ENSMUST00000167962

SMART Domains

Protein: ENSMUSP00000128645
Gene: ENSMUSG00000023460

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,655,302 (GRCm39)		probably benign	Het
Alk	C	T	17: 72,176,531 (GRCm39)	G1591D	probably damaging	Het
Angptl2	T	C	2: 33,118,327 (GRCm39)	S34P	probably benign	Het
Atp2a2	A	G	5: 122,627,354 (GRCm39)	V137A	probably benign	Het
Atp8b5	A	G	4: 43,366,770 (GRCm39)	M845V	probably damaging	Het
Camk1d	A	G	2: 5,570,571 (GRCm39)	V30A	possibly damaging	Het
Ceacam19	G	A	7: 19,616,535 (GRCm39)	T193I	probably benign	Het
Cfap298	A	C	16: 90,722,950 (GRCm39)	D261E	probably benign	Het
Chst15	T	A	7: 131,868,475 (GRCm39)	D315V	probably damaging	Het
Cux1	G	T	5: 136,336,857 (GRCm39)	P885Q	probably damaging	Het
Cyth1	C	T	11: 118,076,307 (GRCm39)	E88K	possibly damaging	Het
Dido1	A	G	2: 180,325,751 (GRCm39)	V479A	probably benign	Het
Dlc1	G	T	8: 37,037,429 (GRCm39)		probably benign	Het
H2-Ab1	G	A	17: 34,483,885 (GRCm39)	R82Q	probably damaging	Het
Hps6	T	A	19: 45,994,480 (GRCm39)	*806K	probably null	Het
Ilf3	T	C	9: 21,309,340 (GRCm39)	S486P	probably benign	Het
Kdm1b	C	A	13: 47,233,943 (GRCm39)	T759K	probably damaging	Het
Kirrel1	C	A	3: 86,995,792 (GRCm39)	V381F	probably damaging	Het
Kmt2b	A	T	7: 30,276,569 (GRCm39)	V1701E	probably damaging	Het
Lrmda	T	C	14: 22,878,805 (GRCm39)	Y100H	probably damaging	Het
Mastl	T	C	2: 23,035,421 (GRCm39)	I169V	probably damaging	Het
Mroh2b	A	G	15: 4,991,630 (GRCm39)	E1576G	probably damaging	Het
Nek3	A	T	8: 22,650,384 (GRCm39)		probably null	Het
Nipal3	G	T	4: 135,195,861 (GRCm39)	Y247*	probably null	Het
Nt5e	A	C	9: 88,237,758 (GRCm39)	K229N	probably damaging	Het
Opa1	A	G	16: 29,429,705 (GRCm39)	M290V	probably null	Het
Or2a14	A	G	6: 43,130,511 (GRCm39)	I91V	possibly damaging	Het
Or8d6	G	T	9: 39,854,254 (GRCm39)	G233C	probably damaging	Het
Parp2	T	A	14: 51,052,872 (GRCm39)	I155K	probably benign	Het
Pde4dip	G	T	3: 97,674,403 (GRCm39)	A171E	probably damaging	Het
Prom2	C	T	2: 127,373,036 (GRCm39)	E678K	probably benign	Het
Rgs8	A	T	1: 153,546,545 (GRCm39)	T13S	probably damaging	Het
Setd3	A	G	12: 108,078,383 (GRCm39)		probably benign	Het
Shisal1	A	G	15: 84,304,330 (GRCm39)		probably benign	Het
Slx4ip	G	A	2: 136,846,893 (GRCm39)	V53I	probably damaging	Het
Stil	A	G	4: 114,881,295 (GRCm39)	D613G	probably benign	Het
Tektip1	A	G	10: 81,200,570 (GRCm39)		probably benign	Het
Tjp3	T	A	10: 81,109,523 (GRCm39)	S858C	probably damaging	Het
Tmem215	A	G	4: 40,474,632 (GRCm39)	*236W	probably null	Het
Ttbk1	A	G	17: 46,781,586 (GRCm39)	V389A	probably benign	Het
Wdfy4	A	G	14: 32,693,707 (GRCm39)	F2706S	possibly damaging	Het
Xpo4	C	A	14: 57,866,877 (GRCm39)	V222L	possibly damaging	Het
Zfc3h1	A	G	10: 115,236,809 (GRCm39)	S428G	probably benign	Het
Zfp286	T	C	11: 62,678,786 (GRCm39)	Q47R	probably damaging	Het
Zfp318	A	G	17: 46,709,680 (GRCm39)	K468E	probably damaging	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
IGL02656:Rab12	APN	17	66,813,049 (GRCm39)	missense	probably damaging	1.00
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

2015-12-18