Mutagenetix > Incidental Mutation

Incidental Mutation 'R7839:Rabl6'

606145

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

045893-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7839 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25473029-25498493 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25482829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 183 (H183Q)

Ref Sequence

ENSEMBL: ENSMUSP00000058746 (fasta)

Gene Model

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

AlphaFold

Q5U3K5

Predicted Effect

probably damaging
Transcript: ENSMUST00000058137
AA Change: H183Q

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087
AA Change: H183Q

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (51/51)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 110,025,085 (GRCm39)	M986K	probably benign	Het
Adcyap1	A	G	17: 93,511,413 (GRCm39)	K129R	probably benign	Het
Anapc1	T	C	2: 128,526,528 (GRCm39)	D90G	probably damaging	Het
Ankrd17	G	A	5: 90,411,213 (GRCm39)	H1361Y	probably damaging	Het
Aqp4	T	A	18: 15,532,737 (GRCm39)	I119F	possibly damaging	Het
Bfsp1	T	A	2: 143,673,770 (GRCm39)	I313F	possibly damaging	Het
Cxcl9	A	G	5: 92,475,869 (GRCm39)	V5A	probably benign	Het
Cyfip1	G	A	7: 55,536,483 (GRCm39)	V304M	probably damaging	Het
Cyp2d22	A	G	15: 82,256,772 (GRCm39)	V334A	probably damaging	Het
Cyp2j12	A	G	4: 95,987,893 (GRCm39)	V499A	possibly damaging	Het
Cyth3	A	G	5: 143,683,509 (GRCm39)	E136G	probably benign	Het
Degs2	CTTAGTGAAT	CT	12: 108,658,460 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,606,334 (GRCm39)	S1229P	probably benign	Het
Dop1a	T	A	9: 86,424,818 (GRCm39)	C2087*	probably null	Het
Dop1b	A	T	16: 93,560,829 (GRCm39)	H889L	probably damaging	Het
Elf1	A	G	14: 79,773,855 (GRCm39)	E22G	probably benign	Het
Gbgt1	T	C	2: 28,393,182 (GRCm39)	V90A	probably damaging	Het
Glis3	T	C	19: 28,294,773 (GRCm39)	D675G	possibly damaging	Het
Glt8d1	G	T	14: 30,723,788 (GRCm39)		probably benign	Het
Gzf1	T	A	2: 148,525,815 (GRCm39)	Y95*	probably null	Het
Insig2	T	C	1: 121,240,049 (GRCm39)	I84V	probably benign	Het
Mapkapk2	A	G	1: 131,025,256 (GRCm39)	S3P	unknown	Het
Nell2	T	C	15: 95,196,819 (GRCm39)	N499S	probably benign	Het
Nlrp9b	G	A	7: 19,758,398 (GRCm39)	R545H	possibly damaging	Het
Obox7	T	A	7: 14,399,350 (GRCm39)	I192N	probably benign	Het
Or10ad1	T	C	15: 98,106,026 (GRCm39)	I80V	probably damaging	Het
Or6c76b	A	T	10: 129,692,899 (GRCm39)	I171F	possibly damaging	Het
Plec	A	T	15: 76,060,583 (GRCm39)	V3118E	probably damaging	Het
Plk3	T	C	4: 116,986,527 (GRCm39)	T571A	probably damaging	Het
Ppa2	T	C	3: 133,082,351 (GRCm39)		probably null	Het
Rad51ap2	T	A	12: 11,507,238 (GRCm39)	S387T	possibly damaging	Het
Rbm33	A	G	5: 28,573,397 (GRCm39)		probably null	Het
Robo4	T	C	9: 37,322,055 (GRCm39)	S724P	probably damaging	Het
Rtf2	T	C	2: 172,308,253 (GRCm39)		probably null	Het
Sft2d1rt	T	C	11: 45,942,887 (GRCm39)	T79A	possibly damaging	Het
Slc45a2	A	T	15: 11,027,835 (GRCm39)	Q468L	probably benign	Het
Slc6a15	A	G	10: 103,240,660 (GRCm39)	I428V	probably benign	Het
Sp140l2	C	T	1: 85,224,736 (GRCm39)	M266I	probably benign	Het
Taar7f	C	A	10: 23,925,967 (GRCm39)	A187E	possibly damaging	Het
Tmt1a	T	C	15: 100,202,957 (GRCm39)	V77A	possibly damaging	Het
Tob1	T	A	11: 94,104,598 (GRCm39)	Y45N	probably damaging	Het
Trappc10	A	G	10: 78,024,646 (GRCm39)	V1161A	possibly damaging	Het
Trbv13-2	T	C	6: 41,098,521 (GRCm39)	V32A	probably benign	Het
Trpm8	T	A	1: 88,254,176 (GRCm39)	L133Q	possibly damaging	Het
Ttn	T	C	2: 76,538,512 (GRCm39)	T34729A	probably benign	Het
Uba6	G	T	5: 86,270,271 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,840,596 (GRCm39)	D85G	possibly damaging	Het
Vmn1r176	T	C	7: 23,534,394 (GRCm39)	D253G	possibly damaging	Het
Vmn2r34	T	A	7: 7,687,173 (GRCm39)	I175F	possibly damaging	Het
Vmn2r61	T	A	7: 41,916,032 (GRCm39)	I215N	probably damaging	Het
Vwa5a	C	A	9: 38,634,799 (GRCm39)	S202R	probably damaging	Het
Zfp383	G	A	7: 29,614,483 (GRCm39)	C246Y	probably damaging	Het
Zfp40	T	C	17: 23,395,963 (GRCm39)	D208G	probably damaging	Het
Zfp992	C	A	4: 146,550,875 (GRCm39)	L199I	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
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'- CCTGGCATATGGTCTTCACATC -3'
(R):5'- CAAGTGCTCTGGGGAGTTAG -3'

Sequencing Primer
(F):5'- TCGTGGAAACCTGGAATTCC -3'
(R):5'- TGCTCTGGGGAGTTAGACCAAAAAG -3'

Posted On

2019-12-20