Mutagenetix > Incidental Mutation

Incidental Mutation 'R3727:Rab42'

270824

Institutional Source

Beutler Lab

Gene Symbol

Rab42

Ensembl Gene

ENSMUSG00000089687

Gene Name

RAB42, member RAS oncogene family

Synonyms

9530096D07Rik, Rab42-ps

MMRRC Submission

040718-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R3727 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132029508-132030696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132029964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 86 (M86T)

Ref Sequence

ENSEMBL: ENSMUSP00000047735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040411]

AlphaFold

Q0PD08

Predicted Effect

probably benign
Transcript: ENSMUST00000040411
AA Change: M86T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000047735
Gene: ENSMUSG00000089687
AA Change: M86T

Domain	Start	End	E-Value	Type
RAB	10	177	2.32e-65	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	C	T	15: 72,985,706 (GRCm39)	V630M	probably damaging	Het
Alk	T	C	17: 72,208,395 (GRCm39)		probably benign	Het
Atp6v0a1	T	A	11: 100,921,246 (GRCm39)	S243T	probably benign	Het
BC035044	C	A	6: 128,867,822 (GRCm39)	G37*	probably null	Het
C3	G	T	17: 57,514,379 (GRCm39)	N1435K	possibly damaging	Het
Caly	T	C	7: 139,650,417 (GRCm39)	E175G	probably damaging	Het
Ccng2	T	C	5: 93,422,810 (GRCm39)	F330S	probably damaging	Het
Cemip2	G	A	19: 21,822,075 (GRCm39)	A1157T	probably benign	Het
Cyp2c38	A	G	19: 39,380,739 (GRCm39)		probably benign	Het
Cypt1	T	A	X: 16,389,674 (GRCm39)	L128*	probably null	Het
Dmgdh	A	G	13: 93,828,575 (GRCm39)	N239D	probably damaging	Het
Dnah8	C	T	17: 30,958,622 (GRCm39)	Q2155*	probably null	Het
Dpp3	A	G	19: 4,973,213 (GRCm39)	I127T	probably benign	Het
Eps15	G	T	4: 109,227,882 (GRCm39)		probably benign	Het
Exosc10	A	G	4: 148,649,734 (GRCm39)	D388G	probably damaging	Het
Flt3	C	A	5: 147,291,733 (GRCm39)	R572S	probably damaging	Het
Gm44501	T	C	17: 40,887,506 (GRCm39)	F8S	unknown	Het
Hormad2	C	A	11: 4,358,598 (GRCm39)	G270C	probably benign	Het
Ifrd2	C	T	9: 107,468,881 (GRCm39)	R40*	probably null	Het
Ina	G	A	19: 47,004,158 (GRCm39)	R322H	possibly damaging	Het
Kif13b	A	G	14: 65,003,197 (GRCm39)		probably benign	Het
Lrp2	T	C	2: 69,340,773 (GRCm39)	N1034S	probably damaging	Het
Macf1	T	A	4: 123,353,104 (GRCm39)	E1770V	probably damaging	Het
Mpi	T	C	9: 57,452,132 (GRCm39)	I381M	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Nt5c	C	T	11: 115,381,474 (GRCm39)	W185*	probably null	Het
Or2j3	A	T	17: 38,616,310 (GRCm39)	I14N	possibly damaging	Het
Or2y1e	G	A	11: 49,218,622 (GRCm39)	R128H	probably benign	Het
Pcdhga9	G	A	18: 37,871,995 (GRCm39)	R608H	probably benign	Het
Pdzrn3	T	A	6: 101,133,906 (GRCm39)	D441V	probably damaging	Het
Slc52a3	C	T	2: 151,847,701 (GRCm39)	P270S	probably benign	Het
Stpg2	T	C	3: 139,004,257 (GRCm39)	F278S	probably damaging	Het
Styxl2	G	A	1: 165,927,075 (GRCm39)	R846C	probably damaging	Het
Tmem240	T	C	4: 155,824,235 (GRCm39)		probably benign	Het
Vmn2r22	A	G	6: 123,627,584 (GRCm39)	L4P	possibly damaging	Het
Vmn2r95	C	T	17: 18,661,744 (GRCm39)	Q497*	probably null	Het
Wnk1	T	C	6: 119,969,414 (GRCm39)	H347R	probably damaging	Het
Zmym2	A	T	14: 57,156,806 (GRCm39)		probably benign	Het

Other mutations in Rab42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02487:Rab42	APN	4	132,029,614 (GRCm39)	missense	probably benign	0.00
R0111:Rab42	UTSW	4	132,029,676 (GRCm39)	missense	possibly damaging	0.73
R1443:Rab42	UTSW	4	132,029,658 (GRCm39)	missense	probably benign	0.00
R1888:Rab42	UTSW	4	132,030,529 (GRCm39)	missense	probably benign
R1888:Rab42	UTSW	4	132,030,529 (GRCm39)	missense	probably benign
R2136:Rab42	UTSW	4	132,029,790 (GRCm39)	missense	probably damaging	1.00
R4623:Rab42	UTSW	4	132,030,504 (GRCm39)	missense	possibly damaging	0.80
R4629:Rab42	UTSW	4	132,030,548 (GRCm39)	missense	probably benign	0.31
R5451:Rab42	UTSW	4	132,029,827 (GRCm39)	missense	probably benign	0.01
R7465:Rab42	UTSW	4	132,029,925 (GRCm39)	missense	possibly damaging	0.50
R9516:Rab42	UTSW	4	132,029,890 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- ACATTGCAGTTGCTTTTGGCC -3'
(R):5'- CCGAAGCAGACATGTCAAGG -3'

Sequencing Primer
(F):5'- AGAGGCAGCAAGTTCCTCTG -3'
(R):5'- CAGACATGTCAAGGGGTGG -3'

Posted On

2015-03-18