Mutagenetix > Incidental Mutation

Incidental Mutation 'R9406:Rab40b'

711547

Institutional Source

Beutler Lab

Gene Symbol

Rab40b

Ensembl Gene

ENSMUSG00000025170

Gene Name

Rab40B, member RAS oncogene family

Synonyms

rar

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9406 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121246951-121279077 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 121254352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 62 (R62*)

Ref Sequence

ENSEMBL: ENSMUSP00000101713 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000106107
AA Change: R62*

SMART Domains

Protein: ENSMUSP00000101713
Gene: ENSMUSG00000025170
AA Change: R62*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	A	G	17: 35,879,487 (GRCm39)	Y275C	possibly damaging	Het
4932414N04Rik	A	G	2: 68,498,019 (GRCm39)	K150R	unknown	Het
Aatf	ACACACACACACACACACACACACACACACACACACACACACACACAC	ACACACACACACACACACACACACACACACACACACACACACACACACAC	11: 84,361,866 (GRCm39)		probably null	Het
Ank3	C	A	10: 69,645,011 (GRCm39)	T92K	unknown	Het
Armh4	C	T	14: 50,010,945 (GRCm39)	G254E	possibly damaging	Het
Cdca2	T	C	14: 67,937,772 (GRCm39)	S294G	unknown	Het
Cerk	A	G	15: 86,028,787 (GRCm39)	I423T	possibly damaging	Het
Cfap74	A	T	4: 155,510,626 (GRCm39)	K404*	probably null	Het
Cftr	T	C	6: 18,299,866 (GRCm39)	V1213A	probably benign	Het
Chst11	A	G	10: 83,026,881 (GRCm39)	T103A	possibly damaging	Het
Col22a1	A	G	15: 71,845,541 (GRCm39)	I407T	probably damaging	Het
Cpn2	A	G	16: 30,078,360 (GRCm39)	V447A	probably benign	Het
Crybg3	T	C	16: 59,378,839 (GRCm39)	E805G	probably benign	Het
Cstb	A	G	10: 78,263,173 (GRCm39)	H66R	probably benign	Het
Cyp2g1	T	C	7: 26,518,910 (GRCm39)		probably null	Het
Fkbp1b	G	T	12: 4,883,732 (GRCm39)	H88N	probably benign	Het
Gm4884	A	T	7: 40,692,565 (GRCm39)	D178V	probably damaging	Het
Grik5	T	C	7: 24,757,969 (GRCm39)	T371A	probably benign	Het
Hydin	G	A	8: 111,314,412 (GRCm39)	G4299S	probably null	Het
Ibtk	A	T	9: 85,603,393 (GRCm39)	Y537*	probably null	Het
Ighv8-9	A	G	12: 115,432,257 (GRCm39)	L18P	probably damaging	Het
Lbp	G	T	2: 158,159,477 (GRCm39)	K203N	probably benign	Het
Lilra6	C	T	7: 3,917,853 (GRCm39)	R97Q	probably benign	Het
Man1c1	A	G	4: 134,303,318 (GRCm39)	I392T	probably damaging	Het
Mcf2l	A	T	8: 13,059,676 (GRCm39)	H727L	probably damaging	Het
Med7	T	A	11: 46,331,865 (GRCm39)	F153L	probably benign	Het
Neurl1b	G	C	17: 26,657,820 (GRCm39)	V253L	probably benign	Het
Noc2l	T	C	4: 156,320,511 (GRCm39)	S4P	probably benign	Het
Obscn	A	C	11: 58,947,805 (GRCm39)	F4408C		Het
Or1j17	A	G	2: 36,578,296 (GRCm39)	Y94C	possibly damaging	Het
Or4f62	A	G	2: 111,986,643 (GRCm39)	I116V	probably benign	Het
Orc2	T	C	1: 58,506,842 (GRCm39)	Q498R	probably damaging	Het
Oxsm	A	C	14: 16,242,531 (GRCm38)	D79E	probably benign	Het
Pask	G	A	1: 93,251,987 (GRCm39)	T464I	probably benign	Het
Pcdha8	A	G	18: 37,126,922 (GRCm39)	N468S	probably damaging	Het
Pcm1	T	A	8: 41,728,722 (GRCm39)	V565E	probably damaging	Het
Pcsk5	T	C	19: 17,771,097 (GRCm39)	I67V	probably benign	Het
Pde4d	A	G	13: 109,877,064 (GRCm39)	D139G	probably damaging	Het
Pdzd8	C	T	19: 59,333,245 (GRCm39)	E259K		Het
Phactr3	T	C	2: 177,925,856 (GRCm39)	L377P	probably damaging	Het
Ppargc1b	G	A	18: 61,444,051 (GRCm39)	P387S	possibly damaging	Het
Prmt7	T	G	8: 106,970,435 (GRCm39)	V426G	probably damaging	Het
Rab39	G	C	9: 53,597,915 (GRCm39)	P117A	probably damaging	Het
Rpf1	T	G	3: 146,213,937 (GRCm39)	H220P	probably damaging	Het
Rps6kl1	A	G	12: 85,186,280 (GRCm39)	I276T	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Sestd1	G	A	2: 77,075,421 (GRCm39)		probably benign	Het
Slc38a6	T	A	12: 73,376,767 (GRCm39)	Y140*	probably null	Het
Smpd1	C	A	7: 105,203,750 (GRCm39)	H4Q	possibly damaging	Het
Sox8	A	T	17: 25,786,634 (GRCm39)	S356R	probably damaging	Het
Tapbpl	A	G	6: 125,205,319 (GRCm39)	L209P	probably damaging	Het
Txndc11	A	G	16: 10,893,498 (GRCm39)	L744P	probably benign	Het
Ush2a	C	T	1: 187,995,646 (GRCm39)	P139L	probably benign	Het
Vmn1r54	A	T	6: 90,246,092 (GRCm39)	N2I	probably damaging	Het
Vmn2r112	C	T	17: 22,824,223 (GRCm39)	Q493*	probably null	Het
Vps16	T	C	2: 130,283,425 (GRCm39)		probably null	Het
Zfp40	A	T	17: 23,396,129 (GRCm39)	S153T	possibly damaging	Het
Zfp523	G	A	17: 28,416,840 (GRCm39)	A109T	probably benign	Het
Zfp78	A	T	7: 6,382,182 (GRCm39)	N411Y	probably benign	Het

Other mutations in Rab40b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
ANU18:Rab40b	UTSW	11	121,248,788 (GRCm39)	missense	probably benign	0.08
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

Predicted Primers

PCR Primer
(F):5'- AAGGCTCTTTCTTGGACACAG -3'
(R):5'- TCAGGGTCTCACAACAACTG -3'

Sequencing Primer
(F):5'- GACACAGCTTAGCCCTTGGTAC -3'
(R):5'- GGGTCTCACAACAACTGCTTGTG -3'

Posted On

2022-05-16