Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00585:Rab20'

13723

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab20

Ensembl Gene

ENSMUSG00000031504

Gene Name

RAB20, member RAS oncogene family

Synonyms

D8Ertd350e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00585

Quality Score

Status

Chromosome

Chromosomal Location

11503518-11528710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11504212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 163 (Y163H)

Ref Sequence

ENSEMBL: ENSMUSP00000033900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033899] [ENSMUST00000033900]

AlphaFold

P35295

Predicted Effect

probably benign
Transcript: ENSMUST00000033899

SMART Domains

Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Collagen	56	119	1.2e-10	PFAM
Pfam:Collagen	112	174	3.9e-8	PFAM
low complexity region	193	229	N/A	INTRINSIC
Pfam:Collagen	289	348	1.3e-10	PFAM
low complexity region	370	389	N/A	INTRINSIC
low complexity region	427	445	N/A	INTRINSIC
Pfam:Collagen	488	546	2e-10	PFAM
Pfam:Collagen	590	655	4.5e-9	PFAM
low complexity region	665	673	N/A	INTRINSIC
Pfam:Collagen	674	731	3.5e-10	PFAM
Pfam:Collagen	714	775	4.3e-10	PFAM
Pfam:Collagen	773	831	1.5e-10	PFAM
Pfam:Collagen	861	935	8.1e-10	PFAM
Pfam:Collagen	915	976	1.1e-9	PFAM
Pfam:Collagen	978	1038	2.6e-8	PFAM
Pfam:Collagen	1027	1091	1.7e-10	PFAM
Pfam:Collagen	1094	1155	5.5e-11	PFAM
Pfam:Collagen	1147	1211	1e-10	PFAM
Pfam:Collagen	1271	1340	2.1e-8	PFAM
Pfam:Collagen	1330	1392	7.1e-10	PFAM
C4	1484	1591	7.85e-59	SMART
C4	1592	1706	7.65e-71	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000033900
AA Change: Y163H

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000033900
Gene: ENSMUSG00000031504
AA Change: Y163H

Domain	Start	End	E-Value	Type
Pfam:Arf	1	137	1e-13	PFAM
Pfam:Roc	7	117	3.1e-24	PFAM
Pfam:Ras	7	201	2.3e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209418

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele fail to develop M. tuberculosis-containing proteolytic spacious phagosomes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,519,294 (GRCm39)	I664F	probably damaging	Het
Abcg4	A	T	9: 44,192,920 (GRCm39)	M142K	probably benign	Het
Afdn	A	G	17: 14,104,890 (GRCm39)	T1198A	probably damaging	Het
Angptl2	T	C	2: 33,136,239 (GRCm39)	S475P	probably damaging	Het
Ap3s2	T	C	7: 79,565,824 (GRCm39)	E34G	probably benign	Het
C1qtnf9	T	C	14: 61,017,442 (GRCm39)	F324S	probably damaging	Het
Cacng7	A	G	7: 3,414,547 (GRCm39)	Y170C	probably damaging	Het
Ceacam18	G	A	7: 43,286,435 (GRCm39)	V103M	possibly damaging	Het
Chrnb1	G	A	11: 69,684,742 (GRCm39)	P144S	probably damaging	Het
Chuk	T	C	19: 44,066,751 (GRCm39)	H652R	probably damaging	Het
Ckap5	C	T	2: 91,450,170 (GRCm39)	L1948F	probably damaging	Het
Clstn1	A	T	4: 149,722,769 (GRCm39)	H469L	probably benign	Het
Csf2rb2	C	T	15: 78,169,047 (GRCm39)	G594S	possibly damaging	Het
Ctsq	A	T	13: 61,184,941 (GRCm39)	D248E	probably benign	Het
Ep400	A	T	5: 110,903,771 (GRCm39)	I276K	possibly damaging	Het
Gbf1	G	A	19: 46,272,688 (GRCm39)		probably null	Het
Gldn	T	A	9: 54,245,748 (GRCm39)	I433N	probably damaging	Het
Gm136	T	A	4: 34,752,322 (GRCm39)	E69V	probably damaging	Het
Gm28177	T	C	1: 52,121,738 (GRCm39)		probably null	Het
Gtf2h2	A	G	13: 100,617,506 (GRCm39)		probably benign	Het
Ints12	T	C	3: 132,806,570 (GRCm39)		probably null	Het
Ltbp4	T	C	7: 27,026,158 (GRCm39)	D615G	probably damaging	Het
Mgme1	C	T	2: 144,113,909 (GRCm39)	P4S	probably benign	Het
Nae1	A	G	8: 105,252,910 (GRCm39)		probably null	Het
Nup133	G	A	8: 124,636,733 (GRCm39)	A956V	probably damaging	Het
Oacyl	T	A	18: 65,882,711 (GRCm39)	M529K	possibly damaging	Het
Osbpl1a	T	A	18: 12,890,683 (GRCm39)	E519V	possibly damaging	Het
Pacs1	A	T	19: 5,203,726 (GRCm39)	V333E	probably damaging	Het
Pik3c3	T	G	18: 30,436,131 (GRCm39)		probably benign	Het
Polh	C	T	17: 46,483,169 (GRCm39)		probably benign	Het
Ppp6r3	A	G	19: 3,540,826 (GRCm39)	C431R	probably damaging	Het
Pprc1	T	C	19: 46,051,087 (GRCm39)	S206P	possibly damaging	Het
Sde2	T	A	1: 180,683,383 (GRCm39)	C46S	possibly damaging	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Spata20	T	G	11: 94,369,943 (GRCm39)	L784F	probably damaging	Het
Tnnt1	A	C	7: 4,510,549 (GRCm39)	M224R	possibly damaging	Het
Trank1	T	C	9: 111,178,358 (GRCm39)	F349L	possibly damaging	Het
Ttf1	T	C	2: 28,963,895 (GRCm39)		probably benign	Het
Usp54	T	A	14: 20,623,905 (GRCm39)	S651C	probably damaging	Het
Vps45	A	G	3: 95,907,378 (GRCm39)	*571R	probably null	Het
Yod1	G	A	1: 130,646,870 (GRCm39)	G249E	probably damaging	Het
Ythdc2	A	G	18: 44,997,428 (GRCm39)	Y340C	probably damaging	Het
Zfp366	G	A	13: 99,383,080 (GRCm39)		probably benign	Het
Zfp648	T	A	1: 154,079,935 (GRCm39)	D31E	possibly damaging	Het

Other mutations in Rab20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0129:Rab20	UTSW	8	11,504,415 (GRCm39)	missense	probably damaging	1.00
R1488:Rab20	UTSW	8	11,504,268 (GRCm39)	missense	probably benign	0.36
R1774:Rab20	UTSW	8	11,504,223 (GRCm39)	missense	probably benign	0.06
R4694:Rab20	UTSW	8	11,504,485 (GRCm39)	missense	probably damaging	1.00
R8053:Rab20	UTSW	8	11,504,443 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06