Mutagenetix > Incidental Mutation

Incidental Mutation 'R8731:Rab9'

662776

Institutional Source

Beutler Lab

Gene Symbol

Rab9

Ensembl Gene

ENSMUSG00000079316

Gene Name

RAB9, member RAS oncogene family

Synonyms

SID 99, 2410064E05Rik

MMRRC Submission

068579-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R8731 (G1)

Quality Score

221.999

Status

Validated

Chromosome

Chromosomal Location

165240249-165262863 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 165240754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 186 (D186N)

Ref Sequence

ENSEMBL: ENSMUSP00000123325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049435] [ENSMUST00000112091] [ENSMUST00000112192] [ENSMUST00000112194] [ENSMUST00000116495] [ENSMUST00000149315]

AlphaFold

Q9R0M6

PDB Structure

GppNHp-Bound Rab9 GTPase [X-RAY DIFFRACTION]
Crystal structure of the Rab9A-RUTBC2 RBD complex [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000049435
AA Change: D200N

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000045127
Gene: ENSMUSG00000079316
AA Change: D200N

Domain	Start	End	E-Value	Type
RAB	22	189	1.01e-92	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112091
AA Change: D186N

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

SMART Domains

Protein: ENSMUSP00000123325
Gene: ENSMUSG00000079316
AA Change: D186N

Domain	Start	End	E-Value	Type
RAB	8	175	1.01e-92	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112192

SMART Domains

Protein: ENSMUSP00000107811
Gene: ENSMUSG00000079317

Domain	Start	End	E-Value	Type
Pfam:Sedlin_N	9	71	6.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112194

SMART Domains

Protein: ENSMUSP00000107813
Gene: ENSMUSG00000079317

Domain	Start	End	E-Value	Type
Pfam:Sedlin_N	9	136	1.7e-51	PFAM
Pfam:Sybindin	46	137	8.7e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116495

SMART Domains

Protein: ENSMUSP00000112195
Gene: ENSMUSG00000079317

Domain	Start	End	E-Value	Type
Pfam:Sedlin_N	9	136	1.6e-52	PFAM
Pfam:Sybindin	46	137	9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149315

SMART Domains

Protein: ENSMUSP00000119240
Gene: ENSMUSG00000079316

Domain	Start	End	E-Value	Type
Pfam:Miro	9	59	1.6e-6	PFAM
Pfam:Ras	9	59	3.4e-16	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 95.9%

Validation Efficiency

100% (48/48)

MGI Phenotype

PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E9.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	T	3: 59,932,367 (GRCm39)	D294V	probably benign	Het
Abcc8	T	G	7: 45,803,986 (GRCm39)	Y396S	probably damaging	Het
Ace	T	A	11: 105,861,426 (GRCm39)	F192I	possibly damaging	Het
Apeh	A	G	9: 107,964,422 (GRCm39)	S494P	probably benign	Het
Bod1	A	G	11: 31,619,242 (GRCm39)		probably null	Het
Cap2	T	C	13: 46,800,006 (GRCm39)	M404T	probably benign	Het
Cc2d2a	A	T	5: 43,892,788 (GRCm39)	D1450V	probably damaging	Het
Cdk5rap2	A	T	4: 70,163,747 (GRCm39)		probably benign	Het
Clip1	A	C	5: 123,752,756 (GRCm39)	S342A		Het
Cox10	A	G	11: 63,855,045 (GRCm39)	F412S	probably damaging	Het
Cracr2a	T	G	6: 127,602,890 (GRCm39)		probably null	Het
Dcaf7	T	A	11: 105,945,548 (GRCm39)	M299K	possibly damaging	Het
Dffb	T	C	4: 154,059,101 (GRCm39)	T59A	possibly damaging	Het
Dgkd	A	G	1: 87,844,535 (GRCm39)	M234V	possibly damaging	Het
Disp1	A	T	1: 182,869,072 (GRCm39)	V1116E	possibly damaging	Het
Dpysl3	C	T	18: 43,571,157 (GRCm39)	C39Y	probably damaging	Het
Dync1h1	T	A	12: 110,607,018 (GRCm39)	V2565D	possibly damaging	Het
Fam227b	A	T	2: 125,968,898 (GRCm39)	Y59N	possibly damaging	Het
Gm21680	A	T	5: 26,173,230 (GRCm39)	V210D	probably damaging	Het
Gm57858	A	T	3: 36,089,434 (GRCm39)	N163K	probably benign	Het
Gnas	T	C	2: 174,126,699 (GRCm39)	V78A	probably benign	Het
Gpr179	T	C	11: 97,234,555 (GRCm39)	T509A	probably damaging	Het
Igfn1	A	G	1: 135,925,574 (GRCm39)	M60T	probably benign	Het
Llgl2	A	G	11: 115,742,016 (GRCm39)	Q686R	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Mylk3	T	G	8: 86,085,634 (GRCm39)	E300A	probably benign	Het
Myo1b	A	C	1: 51,799,570 (GRCm39)		probably benign	Het
Myo9b	T	C	8: 71,806,486 (GRCm39)		probably null	Het
Nalcn	T	C	14: 123,837,266 (GRCm39)	I33V	probably benign	Het
Nsl1	A	G	1: 190,814,609 (GRCm39)	Y270C	probably damaging	Het
Or5af1	C	T	11: 58,722,268 (GRCm39)	A96V	probably benign	Het
Otulin	A	G	15: 27,608,928 (GRCm39)	M205T	probably benign	Het
Plch1	A	T	3: 63,605,059 (GRCm39)	V1615E	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Scn3a	A	T	2: 65,298,507 (GRCm39)	Y1397*	probably null	Het
Scrib	A	T	15: 75,935,488 (GRCm39)	H549Q	probably benign	Het
Slc36a4	A	G	9: 15,631,048 (GRCm39)	I56V	possibly damaging	Het
Spata7	T	A	12: 98,624,541 (GRCm39)	S148T	probably damaging	Het
Stk31	T	A	6: 49,415,435 (GRCm39)	L590Q	probably benign	Het
Tanc1	T	C	2: 59,673,596 (GRCm39)	V1567A	probably benign	Het
Tspan33	T	C	6: 29,717,310 (GRCm39)	F237S	probably damaging	Het
Uhrf1	T	A	17: 56,629,363 (GRCm39)	L737Q	probably damaging	Het
Vmn2r2	A	G	3: 64,024,404 (GRCm39)	F726L	probably benign	Het
Vmn2r65	A	T	7: 84,589,447 (GRCm39)	L823*	probably null	Het
Vps11	T	C	9: 44,265,756 (GRCm39)	N508D	probably benign	Het

Other mutations in Rab9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Rab9	APN	X	165,240,860 (GRCm39)	nonsense	probably null
IGL03400:Rab9	APN	X	165,240,744 (GRCm39)	missense	probably benign
R4177:Rab9	UTSW	X	165,241,296 (GRCm39)	nonsense	probably null
R8703:Rab9	UTSW	X	165,240,754 (GRCm39)	missense	probably benign	0.00
R8704:Rab9	UTSW	X	165,240,754 (GRCm39)	missense	probably benign	0.00
R8705:Rab9	UTSW	X	165,240,754 (GRCm39)	missense	probably benign	0.00
R8732:Rab9	UTSW	X	165,240,754 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTCCCACCGACTAATGAGG -3'
(R):5'- GCCTGAAAGCTTTCCCTTTG -3'

Sequencing Primer
(F):5'- CGACTAATGAGGCAACAATATGC -3'
(R):5'- CCTTTGTGATTTTGGGCAACAAGAC -3'

Posted On

2021-03-08