Mutagenetix > Incidental Mutation

Incidental Mutation 'R9106:Rabl6'

691997

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

068970-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9106 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25473029-25498493 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25486446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 153 (W153R)

Ref Sequence

ENSEMBL: ENSMUSP00000058746 (fasta)

Gene Model

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

AlphaFold

Q5U3K5

Predicted Effect

probably benign
Transcript: ENSMUST00000058137
AA Change: W153R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087
AA Change: W153R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (63/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	C	A	1: 179,614,601 (GRCm39)	K394N	probably benign	Het
Banp	A	T	8: 122,705,372 (GRCm39)	T81S	possibly damaging	Het
Btn2a2	T	C	13: 23,662,465 (GRCm39)	E495G	probably benign	Het
Cfap69	T	C	5: 5,690,190 (GRCm39)	I158M	possibly damaging	Het
Cgnl1	C	A	9: 71,628,873 (GRCm39)		probably benign	Het
Clip1	T	A	5: 123,753,223 (GRCm39)	Q186L	probably damaging	Het
Clspn	G	A	4: 126,471,243 (GRCm39)		probably benign	Het
Cnst	A	G	1: 179,432,162 (GRCm39)	E224G	probably damaging	Het
Ctdsp1	T	C	1: 74,433,884 (GRCm39)	L155P	probably damaging	Het
D5Ertd579e	C	T	5: 36,773,682 (GRCm39)	A238T	probably benign	Het
Dnah6	T	C	6: 73,121,752 (GRCm39)	Y1410C	probably damaging	Het
Fam186a	AGCCGCTGCCGCTGCCGCTGCCGC	AGCCGCTGCCGCTGCCGC	15: 99,844,107 (GRCm39)		probably benign	Het
Farp2	T	C	1: 93,488,910 (GRCm39)		probably null	Het
Galnt7	T	G	8: 57,985,729 (GRCm39)	D547A	probably damaging	Het
Gm1527	C	A	3: 28,956,440 (GRCm39)	D135E	probably damaging	Het
Grm5	T	C	7: 87,723,747 (GRCm39)	I679T	probably damaging	Het
Hectd4	C	A	5: 121,467,619 (GRCm39)	R2523S	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Htr1f	A	T	16: 64,746,637 (GRCm39)	S218R	probably damaging	Het
Lrit1	G	A	14: 36,776,891 (GRCm39)	A4T	unknown	Het
Ly6f	G	T	15: 75,141,706 (GRCm39)	D50Y	probably damaging	Het
Mafg	GGTTCTTCAGTGT	GGT	11: 120,520,415 (GRCm39)		probably null	Het
Map2	T	A	1: 66,454,522 (GRCm39)	Y1137*	probably null	Het
Map4k3	C	A	17: 81,035,257 (GRCm39)	R21L	possibly damaging	Het
Mapk10	A	T	5: 103,186,442 (GRCm39)	V90D	probably damaging	Het
Mapkapk3	T	A	9: 107,136,067 (GRCm39)	E219V	probably damaging	Het
Mideas	T	C	12: 84,199,327 (GRCm39)	Y1040C	probably damaging	Het
Mos	T	G	4: 3,871,457 (GRCm39)	I120L	probably benign	Het
Mrgprb4	A	G	7: 47,848,679 (GRCm39)	V83A	probably benign	Het
Mrnip	A	G	11: 50,065,768 (GRCm39)	Q19R	probably damaging	Het
Myrip	T	C	9: 120,261,544 (GRCm39)	S386P	probably benign	Het
Mzt2	A	G	16: 15,666,568 (GRCm39)	W141R	probably benign	Het
Ncam1	A	G	9: 49,428,856 (GRCm39)	Y710H	probably damaging	Het
Nlrp9c	G	T	7: 26,081,837 (GRCm39)	L630I	probably benign	Het
Odad2	A	T	18: 7,294,527 (GRCm39)	S29T	probably benign	Het
Oplah	C	A	15: 76,189,876 (GRCm39)	G150C	probably benign	Het
Or4c11b	A	G	2: 88,625,016 (GRCm39)	T97A	probably benign	Het
Or51q1	A	T	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Or52a20	G	A	7: 103,366,737 (GRCm39)	C312Y	probably benign	Het
Or6k2	A	G	1: 173,986,369 (GRCm39)	Q10R	probably benign	Het
Patl1	A	G	19: 11,908,973 (GRCm39)	K460R	probably damaging	Het
Pdgfrb	A	T	18: 61,179,100 (GRCm39)		probably null	Het
Phldb2	T	C	16: 45,680,757 (GRCm39)	I17V	probably benign	Het
Ppp3r1	A	G	11: 17,144,789 (GRCm39)	D134G	probably damaging	Het
Ppp4r4	C	T	12: 103,570,315 (GRCm39)	T763I	probably benign	Het
Prmt9	A	G	8: 78,276,358 (GRCm39)	D61G	probably benign	Het
Ptk2	T	C	15: 73,131,457 (GRCm39)	M589V	possibly damaging	Het
Rb1cc1	A	G	1: 6,319,109 (GRCm39)	I843V		Het
Resf1	T	C	6: 149,230,368 (GRCm39)	V1138A	possibly damaging	Het
Rnf19b	A	G	4: 128,977,940 (GRCm39)	E719G		Het
Sart3	T	C	5: 113,892,410 (GRCm39)	D363G	possibly damaging	Het
Sgo2a	C	A	1: 58,037,283 (GRCm39)	D9E	possibly damaging	Het
Slc27a5	A	G	7: 12,725,097 (GRCm39)	V450A	probably benign	Het
Slc8b1	T	A	5: 120,668,416 (GRCm39)	Y483N	probably damaging	Het
Slco1b2	A	G	6: 141,617,974 (GRCm39)	T475A	probably damaging	Het
Slfn3	T	C	11: 83,103,458 (GRCm39)	F110L	probably benign	Het
Spata31e5	T	C	1: 28,815,975 (GRCm39)	I686V	probably benign	Het
Ssr2	T	A	3: 88,495,269 (GRCm39)	Y175N	probably damaging	Het
Tagap	A	T	17: 8,150,280 (GRCm39)	N222Y	probably damaging	Het
Tecta	C	T	9: 42,278,479 (GRCm39)	V1010M	probably benign	Het
Trim36	A	T	18: 46,300,664 (GRCm39)	I669N	possibly damaging	Het
Ubp1	A	G	9: 113,799,319 (GRCm39)	T425A	probably benign	Het
Usp47	T	C	7: 111,681,713 (GRCm39)	I508T	probably damaging	Het
Vit	G	A	17: 78,934,278 (GRCm39)	D627N	probably damaging	Het
Vmn2r59	A	T	7: 41,695,884 (GRCm39)	I176N	probably benign	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
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
R9439:Rabl6	UTSW	2	25,492,432 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TAAGCCTGAGCCAACTCCTG -3'
(R):5'- CCACAAGGGTTTCCTCAAGG -3'

Sequencing Primer
(F):5'- TGAGCCAACTCCTGCCTAC -3'
(R):5'- GATTTCTGAGTTCAAGGCCAGCC -3'

Posted On

2021-12-30