Mutagenetix > Incidental Mutation

Incidental Mutation 'R8704:Rab9'

669213

Institutional Source

Beutler Lab

Gene Symbol

Rab9

Ensembl Gene

ENSMUSG00000079316

Gene Name

RAB9, member RAS oncogene family

Synonyms

SID 99, 2410064E05Rik

MMRRC Submission

068558-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R8704 (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: 100.0%
10x: 99.9%
20x: 99.5%

Validation Efficiency

98% (39/40)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	T	C	11: 69,773,489 (GRCm39)	Q628R	possibly damaging	Het
Agbl1	G	T	7: 76,239,302 (GRCm39)		probably benign	Het
Brf2	A	G	8: 27,618,499 (GRCm39)	V35A	possibly damaging	Het
Chtf8	A	C	8: 107,612,672 (GRCm39)	M89R	probably benign	Het
Copa	A	G	1: 171,931,693 (GRCm39)	I315V	probably benign	Het
Csmd2	G	A	4: 128,091,147 (GRCm39)	E229K		Het
Etf1	T	C	18: 35,039,139 (GRCm39)	E376G	probably damaging	Het
Fat2	T	A	11: 55,172,137 (GRCm39)	I2859F	probably damaging	Het
Foxp1	C	G	6: 98,993,507 (GRCm39)	Q132H	unknown	Het
Gal3st3	T	C	19: 5,352,663 (GRCm39)	V30A	probably benign	Het
Gars1	C	T	6: 55,040,215 (GRCm39)	R381C	probably damaging	Het
Gjd3	C	T	11: 98,873,445 (GRCm39)	R133H	probably damaging	Het
Haspin	T	C	11: 73,028,828 (GRCm39)	N87S	probably benign	Het
Hcrt	A	T	11: 100,652,752 (GRCm39)		probably benign	Het
Heatr6	T	A	11: 83,668,104 (GRCm39)	M866K	probably benign	Het
Igf1r	T	C	7: 67,819,802 (GRCm39)		probably benign	Het
Lgr5	A	G	10: 115,288,610 (GRCm39)	L678P	probably benign	Het
Lypd5	A	G	7: 24,050,982 (GRCm39)	H31R	possibly damaging	Het
Mib2	A	G	4: 155,743,620 (GRCm39)	M275T	possibly damaging	Het
Mmp19	G	A	10: 128,634,703 (GRCm39)	V440I	probably benign	Het
Nefm	T	C	14: 68,358,510 (GRCm39)	E508G	unknown	Het
Nlrp4a	A	T	7: 26,156,563 (GRCm39)	I763L	probably benign	Het
Or5p61	A	T	7: 107,758,711 (GRCm39)	V123D	possibly damaging	Het
Or9g4	T	A	2: 85,504,562 (GRCm39)	H311L		Het
Pcdhb1	T	A	18: 37,399,402 (GRCm39)	V451D	possibly damaging	Het
Pfkfb2	T	C	1: 130,625,780 (GRCm39)	N467D	probably benign	Het
Ptprc	G	A	1: 138,043,362 (GRCm39)	T63I	probably benign	Het
Rhobtb2	G	A	14: 70,031,373 (GRCm39)	P584L	probably damaging	Het
Rhoc	G	C	3: 104,699,342 (GRCm39)	A44P	probably damaging	Het
Sardh	T	C	2: 27,120,477 (GRCm39)	E435G	possibly damaging	Het
Stfa1	A	T	16: 36,105,536 (GRCm39)	D89V	probably damaging	Het
Tec	T	C	5: 72,926,105 (GRCm39)	K316E	probably damaging	Het
Tsen15	A	T	1: 152,247,541 (GRCm39)	Y150*	probably null	Het
Ugt1a5	T	C	1: 88,094,087 (GRCm39)	I105T	probably benign	Het
Usp25	A	G	16: 76,856,178 (GRCm39)	D257G	probably benign	Het
Vmn1r195	A	G	13: 22,463,058 (GRCm39)	Y176C	possibly damaging	Het
Wdr31	G	A	4: 62,380,442 (GRCm39)	A87V	probably benign	Het
Wwp2	A	T	8: 108,212,228 (GRCm39)	T177S	probably benign	Het
Zfp28	T	C	7: 6,397,637 (GRCm39)	C691R	probably damaging	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
R8705:Rab9	UTSW	X	165,240,754 (GRCm39)	missense	probably benign	0.00
R8731: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'- TTCTCCCACCGACTAATGAGG -3'
(R):5'- CCCTTTGTGATTTTGGGCAAC -3'

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

Posted On

2021-04-30