Mutagenetix > Incidental Mutation

Incidental Mutation 'R2034:Rabl6'

224271

Institutional Source

Beutler Lab

Gene Symbol

Rabl6

Ensembl Gene

ENSMUSG00000015087

Gene Name

RAB, member RAS oncogene family-like 6

Synonyms

Rbel1, Rbel1a, B230208H17Rik, Rbel1b

MMRRC Submission

040041-MU

Accession Numbers

Genbank: NM_001024616; MGI: 2442633

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25583018-25608521 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25585432 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 543 (E543G)

Ref Sequence

ENSEMBL: ENSMUSP00000058746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058137] [ENSMUST00000114217] [ENSMUST00000191602]

AlphaFold

Q5U3K5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058137
AA Change: E543G

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087
AA Change: E543G

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

probably benign
Transcript: ENSMUST00000114217

SMART Domains

Protein: ENSMUSP00000109855
Gene: ENSMUSG00000029419

Domain	Start	End	E-Value	Type
low complexity region	61	92	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	617	636	N/A	INTRINSIC
low complexity region	815	843	N/A	INTRINSIC
low complexity region	880	894	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

Predicted Effect

probably benign
Transcript: ENSMUST00000191602

SMART Domains

Protein: ENSMUSP00000140109
Gene: ENSMUSG00000029419

Domain	Start	End	E-Value	Type
low complexity region	61	92	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	617	636	N/A	INTRINSIC
low complexity region	815	843	N/A	INTRINSIC
low complexity region	880	894	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,900,559	I65V	probably benign	Het
Abca13	A	G	11: 9,292,628	N1497S	possibly damaging	Het
Afmid	C	A	11: 117,835,235	N184K	probably benign	Het
Ampd2	A	T	3: 108,077,363	I459N	possibly damaging	Het
Anapc1	T	C	2: 128,648,458	D1018G	possibly damaging	Het
Ano9	T	A	7: 141,108,135	I223F	probably damaging	Het
B3gnt6	A	G	7: 98,194,018	L245P	possibly damaging	Het
Bag6	G	A	17: 35,144,692	R784Q	probably damaging	Het
Brca1	C	G	11: 101,489,849	S1786T	probably benign	Het
Btbd3	T	G	2: 138,278,983	S26A	probably benign	Het
Cacna1d	C	A	14: 30,089,863	V1277L	probably damaging	Het
Casp12	C	T	9: 5,346,491	T6I	probably damaging	Het
Col7a1	T	C	9: 108,963,007	V1262A	unknown	Het
Crh	C	A	3: 19,694,098	G127C	probably damaging	Het
D5Ertd579e	A	T	5: 36,613,538	L64*	probably null	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Ddc	T	A	11: 11,880,456	I63L	probably benign	Het
Eif3a	C	T	19: 60,762,130		probably benign	Het
Fsip2	T	A	2: 82,989,494	N5190K	probably benign	Het
Gm5420	A	G	10: 21,691,613		noncoding transcript	Het
Grb14	A	G	2: 64,923,529		probably benign	Het
Gsap	A	T	5: 21,270,595	I545F	probably damaging	Het
Hectd1	A	T	12: 51,757,116		probably null	Het
Helz2	G	A	2: 181,232,578	P2041L	probably damaging	Het
Herc1	G	A	9: 66,441,972	A2038T	probably benign	Het
Il10	C	A	1: 131,024,185	Q152K	probably benign	Het
Klrg1	A	G	6: 122,279,637		probably null	Het
Lrig2	T	C	3: 104,494,092	T160A	probably benign	Het
Mmd2	A	T	5: 142,575,184		probably null	Het
Mmp2	C	T	8: 92,836,912	S338F	probably damaging	Het
Nalcn	T	G	14: 123,283,603	D1630A	probably benign	Het
Ncoa2	T	C	1: 13,164,983	S909G	probably benign	Het
Neb	A	T	2: 52,280,611	M1683K	possibly damaging	Het
Nfe2l3	A	G	6: 51,458,370	I637V	possibly damaging	Het
Npw	G	A	17: 24,658,268	S53F	probably damaging	Het
Nrbf2	A	T	10: 67,275,564		probably benign	Het
Nrros	C	T	16: 32,144,157	W311*	probably null	Het
Nup188	T	A	2: 30,310,085		probably benign	Het
Olfr1444	T	A	19: 12,861,787	M4K	possibly damaging	Het
Olfr726	T	C	14: 50,083,983	M233V	probably benign	Het
Parp4	A	T	14: 56,634,263	I1133F	probably damaging	Het
Pcdhb11	T	C	18: 37,422,493	V292A	probably benign	Het
Pcnx2	A	G	8: 125,818,667		probably null	Het
Phf2	A	G	13: 48,817,730	S489P	unknown	Het
Pik3r5	T	A	11: 68,493,577	N598K	probably damaging	Het
Pikfyve	A	T	1: 65,222,357	E432D	probably damaging	Het
Pink1	T	C	4: 138,318,032	I274V	possibly damaging	Het
Pkhd1	G	A	1: 20,200,669	T3220I	probably damaging	Het
Plxna2	A	G	1: 194,780,594	I890V	probably benign	Het
Pomgnt1	T	C	4: 116,157,927	V492A	possibly damaging	Het
Prp2	G	T	6: 132,595,984		probably null	Het
Rgp1	T	A	4: 43,581,605		probably null	Het
Rps6kb2	T	C	19: 4,161,107	T140A	probably damaging	Het
S100a11	T	C	3: 93,526,122	I91T	probably benign	Het
Serpine2	A	G	1: 79,796,852	L230P	probably damaging	Het
Sh3tc2	A	G	18: 61,987,666	D370G	probably damaging	Het
Sim2	A	C	16: 94,085,942	I43L	probably damaging	Het
Skp2	C	A	15: 9,113,698	G376C	probably damaging	Het
Slc14a2	A	G	18: 78,183,583	L419P	probably damaging	Het
Srgap1	C	T	10: 121,792,746	E817K	probably damaging	Het
Stag3	A	G	5: 138,298,001	E442G	possibly damaging	Het
Sulf1	A	G	1: 12,820,421	N361S	probably damaging	Het
Tmco6	A	G	18: 36,737,856		probably null	Het
Tmem104	T	A	11: 115,243,547	I303N	probably benign	Het
Ttll6	G	T	11: 96,135,526	D86Y	probably damaging	Het
Vmn1r120	T	G	7: 21,052,958	E276A	possibly damaging	Het
Vmn1r64	A	G	7: 5,883,989	M185T	probably benign	Het
Vmn2r85	A	T	10: 130,426,373		probably benign	Het
Vwa3a	A	T	7: 120,782,645	K568*	probably null	Het
Zcchc11	C	T	4: 108,512,195	R651W	probably damaging	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
IGL02231:Rabl6	APN	2	25598184	missense	probably benign	0.41
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
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

Predicted Primers

PCR Primer
(F):5'- CTTGATTGTCCTCTAGCTCTGGAAG -3'
(R):5'- TCAGCAATGCTCAGAGCCTG -3'

Sequencing Primer
(F):5'- CCTCTAGCTCTGGAAGGATGG -3'
(R):5'- GGATTCCCAGAGTATGTCCAG -3'

Posted On

2014-08-25