Mutagenetix > Incidental Mutation

Incidental Mutation 'ANU18:Rab40b'

262551

Institutional Source

Beutler Lab

Gene Symbol

Rab40b

Ensembl Gene

ENSMUSG00000025170

Gene Name

Rab40B, member RAS oncogene family

Synonyms

rar

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

ANU18

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121246951-121279077 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 121248788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 156 (V156L)

Ref Sequence

ENSEMBL: ENSMUSP00000101713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026173] [ENSMUST00000106107] [ENSMUST00000106110] [ENSMUST00000136797]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026173

SMART Domains

Protein: ENSMUSP00000026173
Gene: ENSMUSG00000025173

Domain	Start	End	E-Value	Type
Blast:WD40	11	37	2e-9	BLAST
low complexity region	70	79	N/A	INTRINSIC
Blast:WD40	89	124	6e-11	BLAST
Blast:WD40	128	170	1e-5	BLAST
WD40	174	214	1.38e-2	SMART
WD40	217	258	3.71e-1	SMART
low complexity region	278	289	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106107
AA Change: V156L

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000101713
Gene: ENSMUSG00000025170
AA Change: V156L

Domain	Start	End	E-Value	Type
RAB	16	178	1.11e-76	SMART
SOCS	184	227	1.1e-15	SMART
SOCS_box	190	226	1.49e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106110

SMART Domains

Protein: ENSMUSP00000101716
Gene: ENSMUSG00000025173

Domain	Start	End	E-Value	Type
PDB:4EXV\|A	3	205	9e-16	PDB
Blast:WD40	9	37	7e-11	BLAST
SCOP:d1tbga_	9	205	6e-10	SMART
Blast:WD40	89	124	2e-11	BLAST
Blast:WD40	128	170	2e-6	BLAST
Blast:WD40	174	210	2e-16	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124639

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135290

Predicted Effect

probably benign
Transcript: ENSMUST00000136797

SMART Domains

Protein: ENSMUSP00000119591
Gene: ENSMUSG00000025173

Domain	Start	End	E-Value	Type
PDB:4EXV\|A	3	171	1e-9	PDB
Blast:WD40	9	37	2e-11	BLAST
SCOP:d1tbga_	18	171	6e-8	SMART
Blast:WD40	55	90	6e-12	BLAST
Blast:WD40	94	136	1e-6	BLAST
Blast:WD40	140	172	2e-15	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149948

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has similarity to a yeast protein which suggests a role of the gene product in regulating secretory vesicles. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 15,164,181 (GRCm39)		probably null	Het
Acacb	A	T	5: 114,384,559 (GRCm39)	I2238L	probably benign	Het
Aldh1l2	T	C	10: 83,358,710 (GRCm39)	Y95C	probably damaging	Het
Asxl2	A	G	12: 3,551,425 (GRCm39)	T1056A	probably damaging	Het
B4galnt1	A	G	10: 127,005,648 (GRCm39)	T250A	possibly damaging	Het
Cela3b	A	T	4: 137,151,154 (GRCm39)		probably null	Het
Chst3	T	C	10: 60,021,654 (GRCm39)	T398A	probably damaging	Het
Cngb3	A	G	4: 19,425,625 (GRCm39)	T478A	probably damaging	Het
Cyp4a10	T	C	4: 115,375,652 (GRCm39)	L45P	probably damaging	Het
D630003M21Rik	A	G	2: 158,059,568 (GRCm39)	S111P	probably benign	Het
Defb21	A	G	2: 152,416,671 (GRCm39)	E49G	possibly damaging	Het
Dnajc1	T	C	2: 18,313,645 (GRCm39)	T159A	probably damaging	Het
Dnmbp	A	G	19: 43,890,793 (GRCm39)	S325P	probably benign	Het
Fam91a1	T	C	15: 58,314,720 (GRCm39)	F534L	probably damaging	Het
Fermt2	T	C	14: 45,702,320 (GRCm39)	E488G	probably damaging	Het
Filip1	T	C	9: 79,726,462 (GRCm39)	D719G	possibly damaging	Het
Gad1-ps	A	G	10: 99,281,013 (GRCm39)		noncoding transcript	Het
Glra3	C	A	8: 56,393,997 (GRCm39)	A36E	probably benign	Het
Hnrnpm	C	T	17: 33,888,142 (GRCm39)		probably null	Het
Lct	T	A	1: 128,235,784 (GRCm39)	R408*	probably null	Het
Lrrk2	T	A	15: 91,651,542 (GRCm39)	Y1733N	probably damaging	Het
Mindy1	T	C	3: 95,195,701 (GRCm39)	L148P	probably damaging	Het
Mkrn2	C	A	6: 115,588,750 (GRCm39)	Y164*	probably null	Het
Msra	T	C	14: 64,447,884 (GRCm39)	Y135C	probably damaging	Het
Ndst3	C	T	3: 123,342,565 (GRCm39)	A749T	probably damaging	Het
Ngdn	G	T	14: 55,254,571 (GRCm39)	A41S	probably benign	Het
Nlrp12	A	T	7: 3,288,722 (GRCm39)	S597T	probably damaging	Het
Or5b99	A	T	19: 12,976,781 (GRCm39)	I144F	probably damaging	Het
Pabpc6	A	G	17: 9,886,899 (GRCm39)	S551P	probably benign	Het
Plekhg5	C	T	4: 152,197,010 (GRCm39)	A752V	probably benign	Het
Prpf4b	T	C	13: 35,068,274 (GRCm39)	S368P	probably benign	Het
Pus7	A	G	5: 23,951,422 (GRCm39)		probably null	Het
Slc9a9	T	A	9: 94,937,512 (GRCm39)	S455T	probably benign	Het
Tmem26	A	T	10: 68,614,436 (GRCm39)	N284Y	probably damaging	Het
Tmem87a	T	C	2: 120,211,250 (GRCm39)	I232V	probably benign	Het
Trpm2	A	G	10: 77,759,818 (GRCm39)	L1106P	probably damaging	Het
Tshz1	A	G	18: 84,032,786 (GRCm39)	Y541H	probably damaging	Het
Zfp213	G	T	17: 23,780,391 (GRCm39)	A43D	probably benign	Het
Zfp365	A	G	10: 67,745,184 (GRCm39)	V198A	probably damaging	Het
Zfp618	G	A	4: 63,051,063 (GRCm39)	V615M	probably damaging	Het

Other mutations in Rab40b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0512:Rab40b	UTSW	11	121,250,412 (GRCm39)	missense	probably damaging	1.00
R0554:Rab40b	UTSW	11	121,250,432 (GRCm39)	missense	probably damaging	1.00
R3821:Rab40b	UTSW	11	121,248,874 (GRCm39)	missense	probably damaging	1.00
R5272:Rab40b	UTSW	11	121,248,134 (GRCm39)	missense	probably damaging	1.00
R7524:Rab40b	UTSW	11	121,278,878 (GRCm39)	missense	probably damaging	0.97
R7597:Rab40b	UTSW	11	121,248,709 (GRCm39)	missense	probably benign	0.41
R8944:Rab40b	UTSW	11	121,250,384 (GRCm39)	critical splice donor site	probably null
R9406:Rab40b	UTSW	11	121,254,352 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAGCCACTTCACATCTGATGGAGC -3'
(R):5'- CCTAGTGGGTGAGCATCAAGCC -3'

Sequencing Primer
(F):5'- CTTCACATCTGATGGAGCTAAAGG -3'
(R):5'- aataatccccccctccaattc -3'

Posted On

2015-02-04