Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01541:Rab12'

90144

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 #

IGL01541

Quality Score

Status

Chromosome

Chromosomal Location

66801507-66826712 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66804404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 185 (S185G)

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: S233G

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

SMART Domains

Protein: ENSMUSP00000070134
Gene: ENSMUSG00000023460
AA Change: S233G

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 damaging
Transcript: ENSMUST00000167962
AA Change: S185G

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

SMART Domains

Protein: ENSMUSP00000128645
Gene: ENSMUSG00000023460
AA Change: S185G

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,875,169 (GRCm39)	H668Y	probably benign	Het
Adamts10	A	G	17: 33,762,205 (GRCm39)	S505G	probably benign	Het
Ahnak	C	T	19: 8,985,243 (GRCm39)	H2176Y	possibly damaging	Het
Ash1l	G	T	3: 88,973,572 (GRCm39)	D2544Y	probably damaging	Het
Ccdc88a	T	A	11: 29,350,283 (GRCm39)	F88L	probably benign	Het
Cdc42bpa	A	T	1: 179,978,723 (GRCm39)		probably null	Het
Celsr3	T	C	9: 108,708,907 (GRCm39)	V1251A	probably damaging	Het
CN725425	T	A	15: 91,129,955 (GRCm39)	F273I	possibly damaging	Het
Eif2b1	A	G	5: 124,714,965 (GRCm39)	C104R	probably damaging	Het
Ercc3	A	T	18: 32,381,372 (GRCm39)	D396V	possibly damaging	Het
Fga	A	T	3: 82,940,014 (GRCm39)	D556V	probably damaging	Het
Frg1	C	T	8: 41,863,362 (GRCm39)		probably benign	Het
Fto	T	C	8: 92,136,376 (GRCm39)	Y217H	probably damaging	Het
Garin4	A	T	1: 190,896,606 (GRCm39)	Y12*	probably null	Het
Grin3a	A	T	4: 49,792,533 (GRCm39)	V400E	probably damaging	Het
Gtse1	T	A	15: 85,759,855 (GRCm39)	L682*	probably null	Het
Igkv6-32	A	G	6: 70,051,290 (GRCm39)	I22T	probably benign	Het
Lama1	G	A	17: 68,092,065 (GRCm39)	R1646H	probably benign	Het
Lamp1	T	C	8: 13,215,905 (GRCm39)	C35R	probably damaging	Het
Lzts3	A	T	2: 130,478,126 (GRCm39)	L324Q	probably damaging	Het
Muc6	T	A	7: 141,236,069 (GRCm39)	R453*	probably null	Het
Naa35	T	A	13: 59,748,777 (GRCm39)	H132Q	probably damaging	Het
Pgm5	C	A	19: 24,793,777 (GRCm39)	G296W	probably damaging	Het
Pkd1	T	A	17: 24,805,272 (GRCm39)	C3275S	probably damaging	Het
Podxl2	A	G	6: 88,826,331 (GRCm39)	L325P	probably benign	Het
Prom2	A	G	2: 127,371,050 (GRCm39)		probably null	Het
Rnf43	T	G	11: 87,621,046 (GRCm39)	M313R	probably null	Het
Rusc2	T	C	4: 43,415,840 (GRCm39)	V382A	probably benign	Het
Sbno1	A	T	5: 124,516,618 (GRCm39)		probably benign	Het
Smg6	T	C	11: 74,816,770 (GRCm39)	I10T	probably benign	Het
Smpd1	T	C	7: 105,205,033 (GRCm39)	F304S	possibly damaging	Het
Spta1	G	A	1: 174,044,725 (GRCm39)	V1454I	probably benign	Het
Tdrd7	A	T	4: 46,018,551 (GRCm39)	I722F	possibly damaging	Het
Topors	T	C	4: 40,262,364 (GRCm39)	T307A	possibly damaging	Het
Ttn	C	T	2: 76,807,502 (GRCm39)	R77Q	probably damaging	Het
Vmn1r210	C	T	13: 23,011,778 (GRCm39)	M169I	probably benign	Het
Zc3h4	A	G	7: 16,168,257 (GRCm39)	S789G	unknown	Het
Zfp629	G	T	7: 127,211,917 (GRCm39)		probably benign	Het
Zfp977	C	A	7: 42,230,156 (GRCm39)	R123I	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
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
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

2013-12-03