Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01533:Rab12'

89837

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 #

IGL01533

Quality Score

Status

Chromosome

Chromosomal Location

66801507-66826712 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66804430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 176 (I176K)

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: I224K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070134
Gene: ENSMUSG00000023460
AA Change: I224K

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: I176K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128645
Gene: ENSMUSG00000023460
AA Change: I176K

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	C	A	18: 67,538,488 (GRCm39)	E757*	probably null	Het
Arhgap15	T	C	2: 44,133,165 (GRCm39)	V357A	probably damaging	Het
Asb13	T	C	13: 3,692,164 (GRCm39)	V48A	probably benign	Het
Bbs7	T	C	3: 36,664,384 (GRCm39)	R74G	possibly damaging	Het
Capn11	T	C	17: 45,943,830 (GRCm39)	H568R	probably benign	Het
Cbx5	T	C	15: 103,114,061 (GRCm39)	E61G	probably damaging	Het
Ccdc158	T	C	5: 92,757,815 (GRCm39)		probably null	Het
Col14a1	C	A	15: 55,284,236 (GRCm39)	N832K	unknown	Het
Cyp2a4	A	T	7: 26,007,969 (GRCm39)	K125N	probably damaging	Het
Dhx16	T	C	17: 36,192,939 (GRCm39)	L215P	probably damaging	Het
Dtx4	T	C	19: 12,455,579 (GRCm39)	M480V	possibly damaging	Het
Edaradd	A	G	13: 12,493,463 (GRCm39)		probably benign	Het
Galnt13	T	A	2: 54,770,144 (GRCm39)	M312K	probably damaging	Het
Gcdh	T	A	8: 85,615,991 (GRCm39)	R337W	probably damaging	Het
Gm28557	A	T	13: 67,219,396 (GRCm39)	C109*	probably null	Het
Gpr22	C	T	12: 31,758,709 (GRCm39)		probably benign	Het
Gria4	T	G	9: 4,502,395 (GRCm39)	L379F	probably damaging	Het
Gxylt2	T	C	6: 100,760,098 (GRCm39)	L211P	probably damaging	Het
Igsf10	T	A	3: 59,226,651 (GRCm39)	I2341F	probably damaging	Het
Macf1	T	C	4: 123,367,666 (GRCm39)	D2365G	probably damaging	Het
Morc2b	A	G	17: 33,354,695 (GRCm39)		probably benign	Het
Ncoa3	T	C	2: 165,896,945 (GRCm39)	S579P	probably benign	Het
Nlgn1	T	C	3: 25,490,527 (GRCm39)	N400S	possibly damaging	Het
Or5w17	C	A	2: 87,583,412 (GRCm39)	R308S	probably benign	Het
Or8g17	C	T	9: 38,930,097 (GRCm39)	A247T	probably damaging	Het
Pi4ka	A	G	16: 17,126,065 (GRCm39)	S1102P	probably benign	Het
Polr1e	A	G	4: 45,019,328 (GRCm39)	Y59C	probably damaging	Het
Prex2	C	T	1: 11,256,965 (GRCm39)	Q1226*	probably null	Het
Ryr2	A	T	13: 11,736,676 (GRCm39)	N2250K	probably damaging	Het
Sbf1	T	C	15: 89,172,919 (GRCm39)	T1865A	probably damaging	Het
Sema6b	G	A	17: 56,436,499 (GRCm39)		probably benign	Het
Smarcb1	C	T	10: 75,752,602 (GRCm39)		probably null	Het
Sos1	A	G	17: 80,722,511 (GRCm39)	L845S	probably damaging	Het
Stat4	T	A	1: 52,137,578 (GRCm39)	N456K	probably damaging	Het
Tex264	A	G	9: 106,550,798 (GRCm39)	I133T	probably benign	Het
Thoc1	T	C	18: 9,962,376 (GRCm39)	V87A	probably benign	Het
Tmem131	C	T	1: 36,857,803 (GRCm39)	D778N	probably damaging	Het
Tspan14	A	G	14: 40,638,776 (GRCm39)	I88T	probably benign	Het
Ttn	C	A	2: 76,562,918 (GRCm39)	V28679L	possibly damaging	Het
Ttn	A	G	2: 76,782,285 (GRCm39)	S984P	probably damaging	Het
Vangl1	T	C	3: 102,070,667 (GRCm39)	E423G	possibly damaging	Het

Other mutations in Rab12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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