Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02231:Rabl6'

285700

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rabl6

Ensembl Gene

ENSMUSG00000015087

Gene Name

RAB, member RAS oncogene family-like 6

Synonyms

Rbel1, Rbel1a, B230208H17Rik, Rbel1b

Accession Numbers

Genbank: NM_001024616; MGI: 2442633

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

25583018-25608521 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25598184 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 109 (K109N)

Ref Sequence

ENSEMBL: ENSMUSP00000058746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058137]

AlphaFold

Q5U3K5

Predicted Effect

probably benign
Transcript: ENSMUST00000058137
AA Change: K109N

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087
AA Change: K109N

Domain	Start	End	E-Value	Type
Pfam:Ras	45	108	1.5e-7	PFAM
Pfam:Roc	45	112	2.2e-8	PFAM
low complexity region	232	245	N/A	INTRINSIC
low complexity region	291	325	N/A	INTRINSIC
low complexity region	343	364	N/A	INTRINSIC
low complexity region	378	397	N/A	INTRINSIC
low complexity region	480	492	N/A	INTRINSIC
coiled coil region	653	669	N/A	INTRINSIC
low complexity region	708	720	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140785

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146012

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ras superfamily of small GTPases. The encoded protein binds to both GTP and GDP and may play a role in cell growth and survival. Overexpression of this gene may play a role in breast cancer tumorigenesis, and pseudogenes of this gene are located on the long arm of chromosome 2 and the short arm of chromosome 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,279,896	G1647D	probably benign	Het
Alcam	T	A	16: 52,274,050		probably benign	Het
Alox15	A	C	11: 70,349,556	D266E	probably benign	Het
Atcay	A	T	10: 81,210,548	V314E	probably damaging	Het
Atp8b1	C	T	18: 64,550,384	G758R	possibly damaging	Het
Cacna2d4	T	A	6: 119,277,908		probably benign	Het
Celsr3	T	C	9: 108,842,510	V2429A	probably damaging	Het
Clspn	T	G	4: 126,559,228	D11E	probably damaging	Het
Cnot3	A	G	7: 3,658,210	T573A	probably benign	Het
Cyp2d34	A	T	15: 82,618,606	S140T	probably benign	Het
Edem1	A	G	6: 108,828,888	D50G	probably benign	Het
Emilin3	G	A	2: 160,908,515	T438I	probably damaging	Het
Etfdh	C	T	3: 79,618,393	V173I	probably damaging	Het
Fat2	T	C	11: 55,281,092	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,385,162	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,385,163	E154V	probably damaging	Het
G3bp1	T	A	11: 55,495,447	L244*	probably null	Het
Itgae	A	T	11: 73,090,622	K2M	possibly damaging	Het
Kcnq2	T	C	2: 181,081,715	I654V	probably benign	Het
Ksr2	C	T	5: 117,500,776	R82C	probably damaging	Het
Lrig3	A	T	10: 125,997,172	D305V	probably damaging	Het
Me1	T	C	9: 86,611,855	K322E	possibly damaging	Het
Med12l	T	A	3: 59,245,882	D1109E	probably damaging	Het
Mest	A	G	6: 30,740,773	K73E	possibly damaging	Het
Nup155	T	G	15: 8,144,064	L881R	probably damaging	Het
Ocln	A	T	13: 100,541,114	S2T	probably damaging	Het
Oosp3	T	C	19: 11,699,439	L54S	probably damaging	Het
Pkp3	G	A	7: 141,084,238	E443K	probably damaging	Het
Plk2	T	A	13: 110,400,069	C632S	probably benign	Het
Ptk6	C	T	2: 181,197,001	V320I	probably damaging	Het
Ptprt	A	T	2: 162,238,060	I273N	probably damaging	Het
Ptprt	A	G	2: 162,278,046		probably null	Het
Rab3gap2	T	C	1: 185,266,898		probably benign	Het
Rabgef1	G	A	5: 130,211,975	A312T	probably damaging	Het
Rbp7	C	T	4: 149,454,877		probably null	Het
Reg3a	C	T	6: 78,382,241	H75Y	possibly damaging	Het
Rnf123	G	T	9: 108,066,399	P546T	probably benign	Het
Rnmt	C	A	18: 68,314,081	C345*	probably null	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Slc14a2	C	T	18: 78,209,021	S25N	possibly damaging	Het
Spata16	G	T	3: 26,913,264	G388W	probably damaging	Het
Speg	C	T	1: 75,423,387	R2493W	probably damaging	Het
Thada	T	A	17: 84,428,697	D970V	probably damaging	Het
Tmem184c	A	G	8: 77,604,812	Y103H	probably damaging	Het
Ttn	A	T	2: 76,798,096	D12827E	probably damaging	Het
Utp20	A	G	10: 88,791,168	L976S	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zfp936	T	A	7: 43,187,485		probably null	Het

Other mutations in Rabl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Rabl6	APN	2	25584120	unclassified	probably benign
IGL00742:Rabl6	APN	2	25588687	missense	probably damaging	0.96
IGL02424:Rabl6	APN	2	25587457	missense	probably benign
IGL02514:Rabl6	APN	2	25608176	missense	probably damaging	0.96
IGL03036:Rabl6	APN	2	25584856	missense	probably benign	0.00
IGL03278:Rabl6	APN	2	25583822	unclassified	probably benign
R0017:Rabl6	UTSW	2	25602567	splice site	probably benign
R0269:Rabl6	UTSW	2	25586866	critical splice donor site	probably null
R0442:Rabl6	UTSW	2	25587522	missense	probably damaging	0.98
R0617:Rabl6	UTSW	2	25586866	critical splice donor site	probably null
R0626:Rabl6	UTSW	2	25592766	critical splice donor site	probably null
R1109:Rabl6	UTSW	2	25587526	missense	probably damaging	1.00
R2034:Rabl6	UTSW	2	25585432	missense	possibly damaging	0.59
R3914:Rabl6	UTSW	2	25588706	missense	possibly damaging	0.91
R4255:Rabl6	UTSW	2	25584779	missense	possibly damaging	0.91
R5177:Rabl6	UTSW	2	25585373	missense	probably benign	0.18
R5389:Rabl6	UTSW	2	25588654	missense	probably damaging	0.96
R6082:Rabl6	UTSW	2	25583825	unclassified	probably benign
R6243:Rabl6	UTSW	2	25585403	missense	probably damaging	0.98
R6430:Rabl6	UTSW	2	25584837	missense	probably damaging	0.96
R6501:Rabl6	UTSW	2	25602447	missense	possibly damaging	0.92
R7485:Rabl6	UTSW	2	25584141	missense	unknown
R7839:Rabl6	UTSW	2	25592817	missense	probably damaging	0.97
R7889:Rabl6	UTSW	2	25584774	critical splice donor site	probably null
R8978:Rabl6	UTSW	2	25587529	missense	probably damaging	1.00
R9106:Rabl6	UTSW	2	25596434	missense	probably benign	0.01
R9439:Rabl6	UTSW	2	25602420	critical splice donor site	probably null

Posted On

2015-04-16