Mutagenetix > Incidental Mutation

Incidental Mutation 'R5389:Rabl6'

425447

Institutional Source

Beutler Lab

Gene Symbol

Rabl6

Ensembl Gene

ENSMUSG00000015087

Gene Name

RAB, member RAS oncogene family-like 6

Synonyms

Rbel1a, Rbel1b, Rbel1, B230208H17Rik

MMRRC Submission

042961-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5389 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25473029-25498493 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25478666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 255 (E255G)

Ref Sequence

ENSEMBL: ENSMUSP00000058746 (fasta)

Gene Model

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

AlphaFold

Q5U3K5

Predicted Effect

probably damaging
Transcript: ENSMUST00000058137
AA Change: E255G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087
AA Change: E255G

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: ENSMUST00000128942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150206

Meta Mutation Damage Score

0.3772

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (65/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,638,795 (GRCm39)	V398A	probably benign	Het
A430033K04Rik	T	A	5: 138,644,559 (GRCm39)	V148E	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Ankrd26	T	A	6: 118,485,536 (GRCm39)	Q1446L	possibly damaging	Het
Anks6	A	T	4: 47,038,900 (GRCm39)		probably benign	Het
Arrb2	T	C	11: 70,329,484 (GRCm39)	S265P	probably damaging	Het
Baiap2	T	C	11: 119,887,496 (GRCm39)	S264P	probably damaging	Het
Cadps2	A	G	6: 23,329,103 (GRCm39)	V938A	probably damaging	Het
Cavin4	G	T	4: 48,663,907 (GRCm39)	V96F	probably damaging	Het
Cenpe	T	C	3: 134,965,149 (GRCm39)		probably null	Het
Crocc2	C	A	1: 93,143,363 (GRCm39)	Q1322K	probably benign	Het
Cryzl2	T	A	1: 157,289,546 (GRCm39)	C61*	probably null	Het
Dazl	T	C	17: 50,595,718 (GRCm39)	I56V	probably benign	Het
Dnah12	A	T	14: 26,456,904 (GRCm39)	D890V	probably damaging	Het
Dnah9	C	A	11: 65,986,140 (GRCm39)	E1165*	probably null	Het
Dnmt3l	T	A	10: 77,892,665 (GRCm39)		probably null	Het
Elp2	A	G	18: 24,739,960 (GRCm39)	N62S	possibly damaging	Het
Entr1	T	C	2: 26,275,559 (GRCm39)	D244G	probably damaging	Het
Fam216b	T	A	14: 78,322,503 (GRCm39)	H26L	possibly damaging	Het
Fbxw25	T	A	9: 109,481,954 (GRCm39)	Q244L	possibly damaging	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Gvin3	T	C	7: 106,197,442 (GRCm39)		noncoding transcript	Het
Igf2r	T	C	17: 12,944,303 (GRCm39)	Y400C	probably damaging	Het
Iqcc	A	G	4: 129,512,413 (GRCm39)	F20L	probably benign	Het
Klhl5	T	A	5: 65,298,625 (GRCm39)	L135M	possibly damaging	Het
Klk1b16	A	T	7: 43,790,412 (GRCm39)	M196L	possibly damaging	Het
Ltf	T	C	9: 110,858,719 (GRCm39)	M489T	possibly damaging	Het
Mctp2	G	T	7: 71,863,835 (GRCm39)	R343S	possibly damaging	Het
Nbas	T	A	12: 13,584,578 (GRCm39)		probably null	Het
Ncr1	A	T	7: 4,343,932 (GRCm39)	M177L	probably benign	Het
Net1	C	T	13: 3,936,170 (GRCm39)	E305K	probably damaging	Het
Nfx1	T	C	4: 40,985,000 (GRCm39)	F375L	probably damaging	Het
Notch3	T	A	17: 32,358,163 (GRCm39)	I1687L	probably benign	Het
Obsl1	A	T	1: 75,479,905 (GRCm39)		probably benign	Het
Or2ag16	A	T	7: 106,352,290 (GRCm39)	F102I	probably damaging	Het
Or2t46	C	G	11: 58,471,825 (GRCm39)	L52V	possibly damaging	Het
Or51v14	G	T	7: 103,260,797 (GRCm39)	Y254*	probably null	Het
Or5g23	A	G	2: 85,438,627 (GRCm39)	F209S	probably benign	Het
Or5j3	G	A	2: 86,128,561 (GRCm39)	V134M	possibly damaging	Het
Or5p79	A	C	7: 108,221,924 (GRCm39)	I302L	probably damaging	Het
Orai1	A	T	5: 123,167,564 (GRCm39)	M246L	probably benign	Het
Pcdhga12	G	A	18: 37,899,785 (GRCm39)	A206T	probably damaging	Het
Plxdc2	C	A	2: 16,654,998 (GRCm39)	T199K	probably damaging	Het
Prkd1	T	A	12: 50,389,920 (GRCm39)	I819F	probably damaging	Het
Ptpn9	T	C	9: 56,964,121 (GRCm39)		probably benign	Het
Sema3e	T	C	5: 14,286,099 (GRCm39)		probably benign	Het
Serpina3c	T	C	12: 104,115,699 (GRCm39)	M282V	possibly damaging	Het
Slco1a7	A	G	6: 141,686,193 (GRCm39)	F216L	probably benign	Het
Slco2b1	A	G	7: 99,335,132 (GRCm39)	I216T	probably damaging	Het
Slco6b1	T	C	1: 96,916,309 (GRCm39)		noncoding transcript	Het
Slco6d1	A	T	1: 98,371,369 (GRCm39)	I285F	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Sp9	C	A	2: 73,104,641 (GRCm39)	N398K	probably damaging	Het
Sycp2	A	C	2: 178,019,495 (GRCm39)		probably null	Het
Tbc1d23	T	C	16: 57,019,291 (GRCm39)	D219G	probably damaging	Het
Tdpoz3	A	G	3: 93,734,179 (GRCm39)	R285G	probably benign	Het
Trim2	T	A	3: 84,074,960 (GRCm39)	Q694L	probably null	Het
Trim23	T	A	13: 104,328,541 (GRCm39)	V293D	probably damaging	Het
Ttn	A	G	2: 76,665,183 (GRCm39)		probably benign	Het
Vmn2r12	T	A	5: 109,238,261 (GRCm39)	Y493F	probably benign	Het
Vps41	T	A	13: 19,046,708 (GRCm39)	I753N	probably damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Yme1l1	G	A	2: 23,083,246 (GRCm39)	G571R	probably damaging	Het
Zfp322a	A	T	13: 23,541,149 (GRCm39)	C198S	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
IGL02514:Rabl6	APN	2	25,498,188 (GRCm39)	missense	probably damaging	0.96
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
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

Predicted Primers

PCR Primer
(F):5'- CAAAGTCTGGCACTCAGCTC -3'
(R):5'- TGCTAGTGACCAAAGATGTGG -3'

Sequencing Primer
(F):5'- CAGCTCTTATCTGTGAACACTAGGG -3'
(R):5'- AGCAGAAGGTGGCACTTTC -3'

Posted On

2016-08-04