Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02514:Rabl6'

296692

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rabl6

Ensembl Gene

ENSMUSG00000015087

Gene Name

RAB, member RAS oncogene family-like 6

Synonyms

Rbel1a, Rbel1b, Rbel1, B230208H17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02514

Quality Score

Status

Chromosome

Chromosomal Location

25473029-25498493 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25498188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 23 (A23S)

Ref Sequence

ENSEMBL: ENSMUSP00000058746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028309] [ENSMUST00000058137]

AlphaFold

Q5U3K5

Predicted Effect

probably benign
Transcript: ENSMUST00000028309

SMART Domains

Protein: ENSMUSP00000028309
Gene: ENSMUSG00000026940

Domain	Start	End	E-Value	Type
coiled coil region	118	147	N/A	INTRINSIC
low complexity region	171	183	N/A	INTRINSIC
coiled coil region	321	406	N/A	INTRINSIC
low complexity region	524	534	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000058137
AA Change: A23S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087
AA Change: A23S

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: ENSMUST00000129520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140785

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155684

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	T	1: 138,779,909 (GRCm39)	C114*	probably null	Het
4933421I07Rik	A	G	7: 42,096,981 (GRCm39)	M110T	probably damaging	Het
Amer1	A	G	X: 94,470,117 (GRCm39)	V667A	possibly damaging	Het
Casr	C	T	16: 36,320,687 (GRCm39)	G487E	probably damaging	Het
Catsperd	G	A	17: 56,968,271 (GRCm39)	G552D	probably damaging	Het
Ceacam3	A	G	7: 16,896,906 (GRCm39)	D624G	possibly damaging	Het
Celsr2	A	G	3: 108,304,826 (GRCm39)	V2208A	probably benign	Het
Cibar1	T	G	4: 12,164,080 (GRCm39)		probably benign	Het
Clca4a	G	A	3: 144,660,832 (GRCm39)	S664F	probably damaging	Het
Ddx23	A	T	15: 98,556,199 (GRCm39)	S40T	unknown	Het
Dhodh	G	A	8: 110,332,896 (GRCm39)	R58*	probably null	Het
Dhx36	A	G	3: 62,408,319 (GRCm39)	L173S	possibly damaging	Het
Dnaaf5	C	T	5: 139,159,872 (GRCm39)		probably benign	Het
Dnah3	T	C	7: 119,565,470 (GRCm39)	D2546G	probably damaging	Het
Eef2	T	G	10: 81,015,427 (GRCm39)	I316S	probably benign	Het
Efcab6	T	C	15: 83,917,143 (GRCm39)	D139G	possibly damaging	Het
Efcab6	A	T	15: 83,755,512 (GRCm39)		probably benign	Het
Eif4g3	T	A	4: 137,853,505 (GRCm39)	I357N	possibly damaging	Het
Elovl2	G	A	13: 41,348,247 (GRCm39)	T44M	probably benign	Het
Fbln1	T	A	15: 85,128,463 (GRCm39)	C553*	probably null	Het
Fip1l1	T	C	5: 74,731,813 (GRCm39)	V310A	probably damaging	Het
Gast	A	G	11: 100,227,718 (GRCm39)	D100G	probably benign	Het
Gk	G	A	X: 84,756,970 (GRCm39)		probably benign	Het
Gm1330	G	A	2: 148,841,305 (GRCm39)		probably benign	Het
Hspg2	C	A	4: 137,296,887 (GRCm39)	T4355K	probably benign	Het
Ipo7	T	C	7: 109,648,035 (GRCm39)	V639A	possibly damaging	Het
Lrrc7	T	C	3: 157,865,929 (GRCm39)	M1271V	probably damaging	Het
Msantd1	T	A	5: 35,078,887 (GRCm39)	S141T	probably damaging	Het
Myo9b	T	C	8: 71,743,650 (GRCm39)	I237T	probably damaging	Het
Or10ag59	G	A	2: 87,405,537 (GRCm39)	M36I	probably benign	Het
Or13a21	A	T	7: 139,999,507 (GRCm39)	Y60N	probably damaging	Het
Or2w3	T	C	11: 58,556,469 (GRCm39)	F28S	probably damaging	Het
Or4k40	A	C	2: 111,251,117 (GRCm39)	Y60D	probably damaging	Het
Pan2	A	T	10: 128,146,610 (GRCm39)	M416L	possibly damaging	Het
Pank4	T	C	4: 155,054,922 (GRCm39)	F209L	probably damaging	Het
Pcdhb13	A	T	18: 37,576,044 (GRCm39)	I141L	possibly damaging	Het
Pik3r2	A	G	8: 71,223,236 (GRCm39)	Y422H	probably benign	Het
Pramel14	T	C	4: 143,719,772 (GRCm39)	K198E	probably benign	Het
Prdm4	A	T	10: 85,743,781 (GRCm39)	I158N	probably damaging	Het
Prl	T	G	13: 27,243,377 (GRCm39)	L14R	probably damaging	Het
Rbm15b	T	A	9: 106,762,176 (GRCm39)	H664L	probably damaging	Het
Rhobtb1	T	A	10: 69,125,471 (GRCm39)	H618Q	probably benign	Het
Slc15a1	T	C	14: 121,724,452 (GRCm39)	K140R	probably damaging	Het
Slc6a17	A	G	3: 107,402,993 (GRCm39)	S145P	possibly damaging	Het
Snx31	T	C	15: 36,525,728 (GRCm39)	T324A	probably damaging	Het
Spatc1l	T	C	10: 76,405,490 (GRCm39)		probably benign	Het
Taar7b	A	G	10: 23,876,882 (GRCm39)	N349S	probably benign	Het
Tbx19	T	C	1: 164,981,273 (GRCm39)	I74V	probably benign	Het
Tmtc2	G	A	10: 105,025,960 (GRCm39)	T836I	possibly damaging	Het
Vmn2r72	C	A	7: 85,387,907 (GRCm39)	M552I	possibly damaging	Het
Vsig10l	A	G	7: 43,113,338 (GRCm39)	T199A	probably benign	Het
Washc4	A	T	10: 83,405,947 (GRCm39)	E481V	probably damaging	Het
Zc3h15	T	A	2: 83,483,725 (GRCm39)	N33K	probably damaging	Het

Other mutations in Rabl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Rabl6	APN	2	25,474,132 (GRCm39)	unclassified	probably benign
IGL00742:Rabl6	APN	2	25,478,699 (GRCm39)	missense	probably damaging	0.96
IGL02231:Rabl6	APN	2	25,488,196 (GRCm39)	missense	probably benign	0.41
IGL02424:Rabl6	APN	2	25,477,469 (GRCm39)	missense	probably benign
IGL03036:Rabl6	APN	2	25,474,868 (GRCm39)	missense	probably benign	0.00
IGL03278:Rabl6	APN	2	25,473,834 (GRCm39)	unclassified	probably benign
R0017:Rabl6	UTSW	2	25,492,579 (GRCm39)	splice site	probably benign
R0269:Rabl6	UTSW	2	25,476,878 (GRCm39)	critical splice donor site	probably null
R0442:Rabl6	UTSW	2	25,477,534 (GRCm39)	missense	probably damaging	0.98
R0617:Rabl6	UTSW	2	25,476,878 (GRCm39)	critical splice donor site	probably null
R0626:Rabl6	UTSW	2	25,482,778 (GRCm39)	critical splice donor site	probably null
R1109:Rabl6	UTSW	2	25,477,538 (GRCm39)	missense	probably damaging	1.00
R2034:Rabl6	UTSW	2	25,475,444 (GRCm39)	missense	possibly damaging	0.59
R3914:Rabl6	UTSW	2	25,478,718 (GRCm39)	missense	possibly damaging	0.91
R4255:Rabl6	UTSW	2	25,474,791 (GRCm39)	missense	possibly damaging	0.91
R5177:Rabl6	UTSW	2	25,475,385 (GRCm39)	missense	probably benign	0.18
R5389:Rabl6	UTSW	2	25,478,666 (GRCm39)	missense	probably damaging	0.96
R6082:Rabl6	UTSW	2	25,473,837 (GRCm39)	unclassified	probably benign
R6243:Rabl6	UTSW	2	25,475,415 (GRCm39)	missense	probably damaging	0.98
R6430:Rabl6	UTSW	2	25,474,849 (GRCm39)	missense	probably damaging	0.96
R6501:Rabl6	UTSW	2	25,492,459 (GRCm39)	missense	possibly damaging	0.92
R7485:Rabl6	UTSW	2	25,474,153 (GRCm39)	missense	unknown
R7839:Rabl6	UTSW	2	25,482,829 (GRCm39)	missense	probably damaging	0.97
R7889:Rabl6	UTSW	2	25,474,786 (GRCm39)	critical splice donor site	probably null
R8978:Rabl6	UTSW	2	25,477,541 (GRCm39)	missense	probably damaging	1.00
R9106:Rabl6	UTSW	2	25,486,446 (GRCm39)	missense	probably benign	0.01
R9439:Rabl6	UTSW	2	25,492,432 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16