Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03278:Rab37'

415489

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab37

Ensembl Gene

ENSMUSG00000020732

Gene Name

RAB37, member RAS oncogene family

Synonyms

B230354I04Rik, B230331O03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL03278

Quality Score

Status

Chromosome

Chromosomal Location

114982257-115053062 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 115050517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 121 (I121L)

Ref Sequence

ENSEMBL: ENSMUSP00000065016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021076] [ENSMUST00000021077] [ENSMUST00000067754]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021076
AA Change: I128L

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000021076
Gene: ENSMUSG00000020732
AA Change: I128L

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
RAB	31	194	9.38e-93	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000021077

SMART Domains

Protein: ENSMUSP00000021077
Gene: ENSMUSG00000020733

Domain	Start	End	E-Value	Type
PDZ	22	94	2.9e-20	SMART
PDZ	157	229	6.03e-18	SMART
Pfam:EBP50_C	230	355	1.4e-47	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067754
AA Change: I121L

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000065016
Gene: ENSMUSG00000020732
AA Change: I121L

Domain	Start	End	E-Value	Type
RAB	23	187	1.27e-89	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156383

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rab proteins are low molecular mass GTPases that are critical regulators of vesicle trafficking. For additional background information on Rab proteins, see MIM 179508.[supplied by OMIM, Apr 2006]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,205,599 (GRCm39)		probably benign	Het
Acss2	A	G	2: 155,403,921 (GRCm39)	D676G	possibly damaging	Het
Antxr1	A	G	6: 87,181,439 (GRCm39)		probably benign	Het
Ccdc134	C	T	15: 82,015,682 (GRCm39)	A54V	possibly damaging	Het
Ccdc40	A	T	11: 119,133,336 (GRCm39)	I465F	probably damaging	Het
Cdk5rap1	A	T	2: 154,212,622 (GRCm39)	S79T	probably benign	Het
Col6a6	T	C	9: 105,586,651 (GRCm39)	E1790G	probably benign	Het
Cops8	C	A	1: 90,532,087 (GRCm39)		probably null	Het
Dnah7a	T	C	1: 53,536,124 (GRCm39)	T2640A	probably benign	Het
F2	G	A	2: 91,465,527 (GRCm39)	A86V	probably benign	Het
Fhip1b	C	A	7: 105,034,331 (GRCm39)	M433I	possibly damaging	Het
Gabrb1	T	G	5: 72,026,939 (GRCm39)	D113E	probably damaging	Het
Git2	C	A	5: 114,883,640 (GRCm39)		probably benign	Het
Git2	A	T	5: 114,883,641 (GRCm39)		probably null	Het
Gm4847	A	T	1: 166,462,605 (GRCm39)	I295N	probably benign	Het
H2-M10.6	C	A	17: 37,124,715 (GRCm39)	H211N	probably damaging	Het
Hmgcr	A	G	13: 96,793,270 (GRCm39)		probably benign	Het
Larp1	T	C	11: 57,934,882 (GRCm39)		probably benign	Het
Lrguk	A	G	6: 34,093,381 (GRCm39)	E634G	possibly damaging	Het
Nanog	A	G	6: 122,688,704 (GRCm39)	Y95C	probably damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nfe2l1	C	A	11: 96,713,018 (GRCm39)	R55L	probably benign	Het
Or1f19	C	T	16: 3,410,971 (GRCm39)	A237V	possibly damaging	Het
Pkmyt1	A	G	17: 23,953,221 (GRCm39)	E259G	probably damaging	Het
Pld4	A	G	12: 112,733,165 (GRCm39)	N247S	probably damaging	Het
Prdm4	A	T	10: 85,743,622 (GRCm39)	M211K	probably damaging	Het
Rabl6	T	C	2: 25,473,834 (GRCm39)		probably benign	Het
Slc34a3	A	T	2: 25,122,059 (GRCm39)	V154E	probably benign	Het
Slc38a9	T	G	13: 112,826,052 (GRCm39)		probably benign	Het
Sptlc3	G	A	2: 139,431,579 (GRCm39)	G367D	probably damaging	Het
Stk24	T	C	14: 121,540,182 (GRCm39)	K139R	possibly damaging	Het
Tacc2	T	C	7: 130,335,298 (GRCm39)		probably null	Het
Tap1	A	T	17: 34,410,457 (GRCm39)	K378M	probably damaging	Het
Tfr2	A	T	5: 137,569,298 (GRCm39)	R10*	probably null	Het
Trim38	A	G	13: 23,974,979 (GRCm39)	D306G	possibly damaging	Het
Ttc6	A	T	12: 57,668,812 (GRCm39)	K418I	probably damaging	Het
Ush2a	T	A	1: 188,581,313 (GRCm39)	L3731Q	probably damaging	Het
Vmn2r89	A	T	14: 51,692,557 (GRCm39)	Y120F	probably damaging	Het
Vps35	A	T	8: 86,021,590 (GRCm39)		probably benign	Het

Other mutations in Rab37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02057:Rab37	APN	11	115,051,543 (GRCm39)	missense	probably benign	0.00
R0051:Rab37	UTSW	11	115,049,491 (GRCm39)	missense	probably damaging	1.00
R0360:Rab37	UTSW	11	115,047,790 (GRCm39)	missense	probably damaging	1.00
R0364:Rab37	UTSW	11	115,047,790 (GRCm39)	missense	probably damaging	1.00
R0592:Rab37	UTSW	11	115,051,349 (GRCm39)	splice site	probably benign
R0639:Rab37	UTSW	11	115,049,528 (GRCm39)	missense	probably benign	0.04
R1958:Rab37	UTSW	11	115,051,177 (GRCm39)	missense	probably damaging	1.00
R4301:Rab37	UTSW	11	115,049,390 (GRCm39)	missense	possibly damaging	0.53
R5423:Rab37	UTSW	11	115,047,853 (GRCm39)	missense	possibly damaging	0.63
R6196:Rab37	UTSW	11	115,051,132 (GRCm39)	missense	probably benign	0.30
R6488:Rab37	UTSW	11	115,048,789 (GRCm39)	missense	probably benign	0.01
R7539:Rab37	UTSW	11	115,051,487 (GRCm39)	missense	probably benign	0.00
R8075:Rab37	UTSW	11	114,982,759 (GRCm39)	critical splice donor site	probably null
R9218:Rab37	UTSW	11	115,051,475 (GRCm39)	missense	probably damaging	1.00
R9296:Rab37	UTSW	11	115,045,065 (GRCm39)	missense	probably benign

Posted On

2016-08-02