Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02708:Rab6b'

304465

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab6b

Ensembl Gene

ENSMUSG00000032549

Gene Name

RAB6B, member RAS oncogene family

Synonyms

D9Bwg0185e, C330006L04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02708

Quality Score

Status

Chromosome

Chromosomal Location

102988986-103062475 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 103038074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035155] [ENSMUST00000189134]

AlphaFold

P61294

Predicted Effect

probably null
Transcript: ENSMUST00000035155

SMART Domains

Protein: ENSMUSP00000035155
Gene: ENSMUSG00000032549

Domain	Start	End	E-Value	Type
RAB	14	177	5.19e-86	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000189134

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in growth retardation and multiple behavioral and immunological abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,738,213 (GRCm39)	V1104D	probably damaging	Het
Adgrl2	A	T	3: 148,532,161 (GRCm39)	V1024E	probably damaging	Het
Agbl2	A	G	2: 90,631,686 (GRCm39)	H348R	probably benign	Het
Aifm2	T	C	10: 61,574,354 (GRCm39)		probably benign	Het
Ankrd26	T	C	6: 118,495,379 (GRCm39)		probably benign	Het
Avpr1b	A	G	1: 131,528,389 (GRCm39)	D304G	probably damaging	Het
Duox1	A	G	2: 122,156,498 (GRCm39)	D475G	possibly damaging	Het
E2f8	T	C	7: 48,516,982 (GRCm39)		probably null	Het
Fat2	T	A	11: 55,173,211 (GRCm39)	I2501F	probably damaging	Het
Gm4181	A	G	14: 51,870,689 (GRCm39)	C91R	probably benign	Het
Gm5424	T	A	10: 61,907,390 (GRCm39)		noncoding transcript	Het
Gnai3	A	G	3: 108,025,660 (GRCm39)	F140L	probably benign	Het
Htra1	A	T	7: 130,563,765 (GRCm39)	D212V	probably damaging	Het
Irgm2	T	C	11: 58,111,350 (GRCm39)	V347A	probably benign	Het
Itch	A	G	2: 155,015,964 (GRCm39)	T150A	probably benign	Het
Itgb3	A	C	11: 104,528,655 (GRCm39)	I261L	possibly damaging	Het
Kalrn	C	T	16: 34,212,420 (GRCm39)	V31M	probably damaging	Het
Klra7	C	T	6: 130,203,463 (GRCm39)	C181Y	probably damaging	Het
Klrb1	A	G	6: 128,690,548 (GRCm39)	L58S	probably benign	Het
Kndc1	A	G	7: 139,481,097 (GRCm39)	E61G	probably damaging	Het
Krt78	T	A	15: 101,861,842 (GRCm39)	T135S	possibly damaging	Het
Mpdz	A	G	4: 81,202,808 (GRCm39)		probably null	Het
Mphosph6	A	G	8: 118,519,525 (GRCm39)		probably benign	Het
Myo19	T	C	11: 84,790,222 (GRCm39)	S393P	possibly damaging	Het
Or51a5	A	G	7: 102,771,027 (GRCm39)		probably benign	Het
Or8g53	T	C	9: 39,683,214 (GRCm39)	N294S	probably damaging	Het
Pkdrej	T	C	15: 85,704,988 (GRCm39)	Y316C	probably damaging	Het
Pkp3	A	T	7: 140,669,681 (GRCm39)		probably benign	Het
Pramel31	T	A	4: 144,089,983 (GRCm39)	L341H	probably damaging	Het
Psmb8	A	G	17: 34,420,217 (GRCm39)	K270E	probably benign	Het
Ptprq	T	C	10: 107,488,561 (GRCm39)	N959D	probably damaging	Het
Rhobtb3	T	C	13: 76,065,843 (GRCm39)	D180G	probably damaging	Het
Sccpdh	G	A	1: 179,508,074 (GRCm39)	C238Y	probably benign	Het
Srm	C	T	4: 148,677,803 (GRCm39)	S147L	probably benign	Het
Synj1	A	T	16: 90,788,350 (GRCm39)	S173T	probably damaging	Het
Tas1r1	T	C	4: 152,112,797 (GRCm39)	E752G	possibly damaging	Het
Tmem151a	G	T	19: 5,132,875 (GRCm39)	Y110*	probably null	Het
Ttn	A	G	2: 76,556,957 (GRCm39)	V30016A	probably damaging	Het
Txnrd2	A	G	16: 18,287,590 (GRCm39)	E331G	probably benign	Het
Vldlr	T	C	19: 27,215,485 (GRCm39)	C161R	possibly damaging	Het
Vmn1r91	T	A	7: 19,835,415 (GRCm39)	S111R	probably damaging	Het
Vmn2r66	T	A	7: 84,655,796 (GRCm39)	I407F	probably benign	Het
Vps13d	T	C	4: 144,854,850 (GRCm39)	M2258V	probably benign	Het
Ypel1	A	T	16: 16,923,872 (GRCm39)	V59D	probably benign	Het

Other mutations in Rab6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Rab6b	APN	9	103,041,094 (GRCm39)	missense	probably benign	0.26
IGL01543:Rab6b	APN	9	103,039,837 (GRCm39)	missense	probably damaging	1.00
R0139:Rab6b	UTSW	9	103,017,576 (GRCm39)	splice site	probably null
R1034:Rab6b	UTSW	9	103,044,323 (GRCm39)	missense	probably benign	0.10
R1084:Rab6b	UTSW	9	103,039,834 (GRCm39)	missense	probably damaging	1.00
R3721:Rab6b	UTSW	9	103,044,373 (GRCm39)	critical splice donor site	probably null
R4591:Rab6b	UTSW	9	103,044,373 (GRCm39)	critical splice donor site	probably null
R5095:Rab6b	UTSW	9	103,017,583 (GRCm39)	missense	probably damaging	1.00
R5725:Rab6b	UTSW	9	103,041,061 (GRCm39)	missense	probably damaging	0.97
R8795:Rab6b	UTSW	9	103,039,825 (GRCm39)	missense	probably damaging	1.00
R9489:Rab6b	UTSW	9	103,017,601 (GRCm39)	missense	probably benign	0.03
R9605:Rab6b	UTSW	9	103,017,601 (GRCm39)	missense	probably benign	0.03
R9794:Rab6b	UTSW	9	103,041,061 (GRCm39)	missense	possibly damaging	0.93

Posted On

2015-04-16