Mutagenetix > Incidental Mutation

Incidental Mutation 'R5173:Rab39'

398907

Institutional Source

Beutler Lab

Gene Symbol

Rab39

Ensembl Gene

ENSMUSG00000055069

Gene Name

RAB39, member RAS oncogene family

Synonyms

C230094F14Rik, Rab39a

MMRRC Submission

042753-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53684110-53706232 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53686500 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 155 (E155G)

Ref Sequence

ENSEMBL: ENSMUSP00000063804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068449]

AlphaFold

Q8BHD0

Predicted Effect

probably damaging
Transcript: ENSMUST00000068449
AA Change: E155G

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

SMART Domains

Protein: ENSMUSP00000063804
Gene: ENSMUSG00000055069
AA Change: E155G

Domain	Start	End	E-Value	Type
RAB	9	178	8.35e-99	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118010

Meta Mutation Damage Score

0.8796

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530032D15Rik	G	A	1: 85,100,567	R54*	probably null	Het
Abca13	AC	A	11: 9,682,032		probably null	Het
Abca6	A	T	11: 110,191,720	F1142L	probably benign	Het
Ap1g1	T	A	8: 109,851,132		probably null	Het
Apob	T	C	12: 8,008,238	V2207A	probably benign	Het
Cenpp	CAAACCTGAAAA	CAAA	13: 49,464,782		probably null	Het
Chd3	A	G	11: 69,369,243		probably benign	Het
Coch	C	A	12: 51,596,507	Y103*	probably null	Het
Cul3	A	T	1: 80,281,416	D382E	possibly damaging	Het
Cul5	T	C	9: 53,642,734	T291A	probably benign	Het
Dab1	T	C	4: 104,688,448		probably null	Het
Dmtf1	A	G	5: 9,140,356		probably benign	Het
Dpp4	T	C	2: 62,387,130	Y41C	probably damaging	Het
Eif2ak4	A	G	2: 118,408,360	I45M	probably damaging	Het
Epn3	T	C	11: 94,496,097	K149R	probably damaging	Het
Flnc	A	G	6: 29,455,538	E2029G	probably damaging	Het
Gm5799	A	G	14: 43,544,659	N96S	probably damaging	Het
Gm9573	G	T	17: 35,620,741		probably benign	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Grik5	T	C	7: 25,062,894	H224R	possibly damaging	Het
Lpar6	A	T	14: 73,239,097	E166V	probably benign	Het
Mical1	T	C	10: 41,484,989	L683P	probably damaging	Het
Mis18bp1	T	C	12: 65,149,375	I538M	possibly damaging	Het
Mobp	A	G	9: 120,168,245	R77G	possibly damaging	Het
Mylk	A	G	16: 34,977,013	H1614R	probably benign	Het
Olfr1179	G	A	2: 88,402,922	T4I	probably benign	Het
Olfr1388	T	C	11: 49,443,886	F12L	probably benign	Het
Olfr371	T	C	8: 85,230,576	L27P	probably damaging	Het
Osbpl1a	C	T	18: 12,762,640	V390I	probably benign	Het
Pcdha7	C	A	18: 36,974,652	D243E	probably benign	Het
Pi4ka	A	T	16: 17,350,906	N653K	possibly damaging	Het
Plin5	T	G	17: 56,115,548		probably null	Het
Plod1	A	G	4: 147,916,301		probably benign	Het
Psd3	T	C	8: 67,696,989	K372E	probably damaging	Het
Psmd11	C	T	11: 80,460,740	T263I	probably benign	Het
Ptprt	A	T	2: 161,927,756	N396K	probably benign	Het
Rimbp2	T	C	5: 128,797,648	D293G	probably benign	Het
Rnf220	T	C	4: 117,289,274		probably benign	Het
Rnmt	C	T	18: 68,321,359		probably benign	Het
Slc10a1	T	A	12: 80,956,028	I279F	probably damaging	Het
Taar6	A	G	10: 23,985,352	Y99H	probably damaging	Het
Tas2r144	T	A	6: 42,216,114	F263I	probably benign	Het
Tex15	T	A	8: 33,571,740	N399K	possibly damaging	Het
Tlr9	T	A	9: 106,225,952	V814D	possibly damaging	Het
Tmem53	T	A	4: 117,265,711		probably benign	Het
Ubap2l	T	C	3: 90,021,030	I511V	possibly damaging	Het
Vmn2r60	T	C	7: 42,195,511	M766T	probably damaging	Het
Zfp462	T	C	4: 55,011,115	V1027A	probably damaging	Het

Other mutations in Rab39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03131:Rab39	APN	9	53686561	missense	probably damaging	1.00
R0207:Rab39	UTSW	9	53705971	missense	possibly damaging	0.71
R0238:Rab39	UTSW	9	53706030	missense	probably damaging	0.98
R0238:Rab39	UTSW	9	53706030	missense	probably damaging	0.98
R0529:Rab39	UTSW	9	53686716	missense	probably damaging	1.00
R1869:Rab39	UTSW	9	53705931	missense	possibly damaging	0.82
R2020:Rab39	UTSW	9	53686398	missense	possibly damaging	0.78
R3967:Rab39	UTSW	9	53686632	missense	possibly damaging	0.52
R3968:Rab39	UTSW	9	53686632	missense	possibly damaging	0.52
R3969:Rab39	UTSW	9	53686632	missense	possibly damaging	0.52
R4128:Rab39	UTSW	9	53686504	missense	probably benign	0.01
R4394:Rab39	UTSW	9	53686650	missense	probably benign
R5839:Rab39	UTSW	9	53706087	missense	probably damaging	1.00
R6351:Rab39	UTSW	9	53686521	missense	probably benign
R6521:Rab39	UTSW	9	53706031	missense	probably benign	0.28
R6908:Rab39	UTSW	9	53706069	missense	probably damaging	1.00
R7747:Rab39	UTSW	9	53686400	missense	probably benign
R8078:Rab39	UTSW	9	53705955	missense	possibly damaging	0.88
R8285:Rab39	UTSW	9	53705931	missense	probably damaging	1.00
R9200:Rab39	UTSW	9	53686365	missense	probably benign	0.06
R9406:Rab39	UTSW	9	53686615	missense	probably damaging	0.98
Z1177:Rab39	UTSW	9	53686714	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCACTCTTTTCTGGGCTTG -3'
(R):5'- TCCTATTACCGCAACTCAGTTG -3'

Sequencing Primer
(F):5'- GGGCTTGACTGCTTCCTCAG -3'
(R):5'- GTGTTTGACATTACTAACCGACGGTC -3'

Posted On

2016-07-06