Mutagenetix > Incidental Mutation

Incidental Mutation 'R8705:Rab9'

669254

Institutional Source

Beutler Lab

Gene Symbol

Rab9

Ensembl Gene

ENSMUSG00000079316

Gene Name

RAB9, member RAS oncogene family

Synonyms

SID 99, 2410064E05Rik

MMRRC Submission

068559-MU

Accession Numbers

Essential gene?

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

Stock #

R8705 (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: 99.8%
20x: 99.5%

Validation Efficiency

97% (36/37)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c6	G	T	13: 4,484,447 (GRCm39)	G20W	probably damaging	Het
Ces1c	A	G	8: 93,857,518 (GRCm39)	L21P	probably benign	Het
Col11a2	G	T	17: 34,268,769 (GRCm39)	G394V	unknown	Het
Cyp2c70	A	G	19: 40,168,948 (GRCm39)	V113A	probably benign	Het
Foxp1	C	G	6: 98,993,507 (GRCm39)	Q132H	unknown	Het
Fras1	A	T	5: 96,839,260 (GRCm39)	D1593V	probably benign	Het
Frzb	G	A	2: 80,277,241 (GRCm39)		probably benign	Het
Gas6	T	C	8: 13,525,156 (GRCm39)	D276G	probably damaging	Het
Gdf7	C	T	12: 8,348,167 (GRCm39)	E377K	probably damaging	Het
Ggnbp2	A	G	11: 84,753,132 (GRCm39)	F36L	possibly damaging	Het
Gm40460	A	T	7: 141,794,734 (GRCm39)	C28S	unknown	Het
Hnrnpd	A	G	5: 100,111,588 (GRCm39)		probably benign	Het
Hsd17b11	G	A	5: 104,140,703 (GRCm39)	L265F	probably benign	Het
Hyal6	G	A	6: 24,734,673 (GRCm39)	R202H	probably benign	Het
Igkv5-43	A	G	6: 69,800,592 (GRCm39)	S32P	probably benign	Het
Kank1	A	G	19: 25,388,907 (GRCm39)	Y860C	probably damaging	Het
Krt79	G	A	15: 101,846,441 (GRCm39)	T169M	probably damaging	Het
Lama5	C	T	2: 179,820,354 (GRCm39)	C3296Y	probably damaging	Het
Ly75	A	T	2: 60,148,729 (GRCm39)	I1200K	probably damaging	Het
Myo1b	A	T	1: 51,902,495 (GRCm39)	Y78*	probably null	Het
Napb	A	G	2: 148,542,396 (GRCm39)	V188A	probably benign	Het
Neb	T	C	2: 52,148,795 (GRCm39)	Y2584C	probably damaging	Het
Or52e8	T	C	7: 104,624,446 (GRCm39)	I253V	possibly damaging	Het
P4htm	G	A	9: 108,457,240 (GRCm39)	A381V	probably damaging	Het
Pcdha8	T	A	18: 37,126,906 (GRCm39)	F463I	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,775,612 (GRCm39)	T1030A	probably damaging	Het
Phrf1	T	A	7: 140,838,651 (GRCm39)	F615L	unknown	Het
Prrc2a	A	G	17: 35,372,542 (GRCm39)	S1700P	possibly damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Sf3b5	G	T	10: 12,884,554 (GRCm39)	R63L	probably damaging	Het
Sh3rf1	T	C	8: 61,802,591 (GRCm39)	L308P	probably damaging	Het
Slc7a2	A	T	8: 41,368,032 (GRCm39)	T599S	probably damaging	Het
Sox5	T	C	6: 143,987,012 (GRCm39)	N184S	possibly damaging	Het
Traf3	A	G	12: 111,208,938 (GRCm39)	E119G	possibly damaging	Het
Trim24	T	C	6: 37,880,588 (GRCm39)		probably benign	Het
Ubxn11	A	T	4: 133,853,551 (GRCm39)	I368F	probably damaging	Het
Vmn2r27	C	T	6: 124,207,188 (GRCm39)	G151D	probably damaging	Het
Wfdc16	T	A	2: 164,480,395 (GRCm39)	R33S	possibly damaging	Het
Zfp654	A	G	16: 64,605,433 (GRCm39)	V382A	possibly 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
R8704: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'- CCTTTGTGATTTTGGGCAACAAG -3'

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

Posted On

2021-04-30