Mutagenetix > Incidental Mutation

Incidental Mutation 'RF052:Rassf6'

605162

Institutional Source

Beutler Lab

Gene Symbol

Rassf6

Ensembl Gene

ENSMUSG00000029370

Gene Name

Ras association (RalGDS/AF-6) domain family member 6

Synonyms

1600016B17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

RF052 (G1)

Quality Score

128.467

Status

Not validated

Chromosome

Chromosomal Location

90750935-90788516 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

CTGTAGAGCAATGGGGATTC to CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC at 90756782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031317] [ENSMUST00000202704] [ENSMUST00000202784]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031317

SMART Domains

Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370

Domain	Start	End	E-Value	Type
RA	188	278	2.67e-9	SMART
Pfam:Nore1-SARAH	290	329	1.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202704

SMART Domains

Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370

Domain	Start	End	E-Value	Type
RA	188	278	2.67e-9	SMART
Pfam:Nore1-SARAH	290	329	1.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202784

SMART Domains

Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370

Domain	Start	End	E-Value	Type
low complexity region	126	135	N/A	INTRINSIC
RA	175	265	2.67e-9	SMART
Pfam:Nore1-SARAH	277	316	8.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202807

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

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-association domain family (RASSF). Members of this family form the core of a highly conserved tumor suppressor network, the Salvador-Warts-Hippo (SWH) pathway. The protein encoded by this gene is a Ras effector protein that induces apoptosis. A genomic region containing this gene has been linked to susceptibility to viral bronchiolitis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	CCGCCCACG	CCGCCCACGCCCACG	16: 56,447,948 (GRCm39)		probably benign	Het
Chd4	CC	CCACTGGC	6: 125,099,108 (GRCm39)		probably benign	Het
Chga	CAG	CAGAAG	12: 102,527,675 (GRCm39)		probably benign	Het
Cnpy3	CTC	CTCATC	17: 47,047,674 (GRCm39)		probably benign	Het
Cyb5r4	GGATGTGACAGACACACTGCCCAG	GGATGTGACAGACACACTGCCCAGTGATGTGACAGACACACTGCCCAG	9: 86,922,475 (GRCm39)		probably benign	Het
Gab3	TTC	TTCGTC	X: 74,043,589 (GRCm39)		probably benign	Het
Gabre	GGCTCC	GGCTCCTGCTCC	X: 71,313,653 (GRCm39)		probably benign	Het
Gm5591	CACAGGCAGA	CA	7: 38,221,999 (GRCm39)		probably null	Het
Irag2	A	ACCCC	6: 145,106,257 (GRCm39)		probably benign	Het
Lkaaear1	C	T	2: 181,339,226 (GRCm39)	D75N	probably damaging	Het
Map1a	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCAGCTCCA	2: 121,136,776 (GRCm39)		probably benign	Het
Nusap1	ACGTTAGCAGTGAGGAGCAAGCTGAGA	ACGTTAGCAGTGAGGAGCAAGCTGAGATACGCGTTAGCAGTGAGGAGCAAGCTGAGA	2: 119,458,065 (GRCm39)		probably benign	Het
Prp2	AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGAGACCCCCTCAAGGCCCACCACC	6: 132,577,475 (GRCm39)		probably benign	Het
Setd1a	G	GTGGTGGTGT	7: 127,384,529 (GRCm39)		probably benign	Het
Supt20	AGCAGC	AGCAGCCGCAGC	3: 54,635,086 (GRCm39)		probably benign	Het
Tnfaip8	ACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,179,900 (GRCm39)		probably null	Het

Other mutations in Rassf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Rassf6	APN	5	90,751,999 (GRCm39)	missense	probably damaging	1.00
IGL00819:Rassf6	APN	5	90,751,930 (GRCm39)	missense	probably benign	0.03
IGL01139:Rassf6	APN	5	90,756,825 (GRCm39)	makesense	probably null
IGL03114:Rassf6	APN	5	90,756,649 (GRCm39)	splice site	probably benign
R1956:Rassf6	UTSW	5	90,763,730 (GRCm39)	nonsense	probably null
R2167:Rassf6	UTSW	5	90,751,797 (GRCm39)	missense	probably damaging	1.00
R2351:Rassf6	UTSW	5	90,779,418 (GRCm39)	missense	probably benign	0.05
R2877:Rassf6	UTSW	5	90,754,664 (GRCm39)	missense	probably damaging	1.00
R3943:Rassf6	UTSW	5	90,752,185 (GRCm39)	missense	possibly damaging	0.49
R3944:Rassf6	UTSW	5	90,752,185 (GRCm39)	missense	possibly damaging	0.49
R4131:Rassf6	UTSW	5	90,757,646 (GRCm39)	missense	probably damaging	1.00
R5134:Rassf6	UTSW	5	90,752,225 (GRCm39)	critical splice acceptor site	probably null
R5153:Rassf6	UTSW	5	90,754,699 (GRCm39)	missense	possibly damaging	0.81
R5633:Rassf6	UTSW	5	90,751,977 (GRCm39)	missense	possibly damaging	0.84
R5994:Rassf6	UTSW	5	90,765,627 (GRCm39)	missense	probably damaging	1.00
R6000:Rassf6	UTSW	5	90,751,736 (GRCm39)	missense	probably damaging	1.00
R6746:Rassf6	UTSW	5	90,757,633 (GRCm39)	missense	possibly damaging	0.80
R7038:Rassf6	UTSW	5	90,757,584 (GRCm39)	missense	probably benign	0.13
R7190:Rassf6	UTSW	5	90,754,666 (GRCm39)	missense	probably damaging	1.00
R7549:Rassf6	UTSW	5	90,754,661 (GRCm39)	missense	probably damaging	1.00
R8497:Rassf6	UTSW	5	90,779,391 (GRCm39)	missense	possibly damaging	0.83
R9472:Rassf6	UTSW	5	90,765,572 (GRCm39)	nonsense	probably null
RF002:Rassf6	UTSW	5	90,756,784 (GRCm39)	nonsense	probably null
RF002:Rassf6	UTSW	5	90,756,780 (GRCm39)	utr 3 prime	probably benign
RF004:Rassf6	UTSW	5	90,756,778 (GRCm39)	utr 3 prime	probably benign
RF011:Rassf6	UTSW	5	90,756,780 (GRCm39)	utr 3 prime	probably benign
RF013:Rassf6	UTSW	5	90,756,800 (GRCm39)	utr 3 prime	probably benign
RF018:Rassf6	UTSW	5	90,756,788 (GRCm39)	utr 3 prime	probably benign
RF032:Rassf6	UTSW	5	90,756,798 (GRCm39)	utr 3 prime	probably benign
RF034:Rassf6	UTSW	5	90,756,776 (GRCm39)	utr 3 prime	probably benign
RF034:Rassf6	UTSW	5	90,756,771 (GRCm39)	utr 3 prime	probably benign
RF034:Rassf6	UTSW	5	90,756,782 (GRCm39)	utr 3 prime	probably benign
RF035:Rassf6	UTSW	5	90,756,767 (GRCm39)	utr 3 prime	probably benign
RF036:Rassf6	UTSW	5	90,756,774 (GRCm39)	utr 3 prime	probably benign
RF038:Rassf6	UTSW	5	90,756,789 (GRCm39)	utr 3 prime	probably benign
RF038:Rassf6	UTSW	5	90,756,783 (GRCm39)	utr 3 prime	probably benign
RF039:Rassf6	UTSW	5	90,756,798 (GRCm39)	utr 3 prime	probably benign
RF039:Rassf6	UTSW	5	90,756,774 (GRCm39)	utr 3 prime	probably benign
RF043:Rassf6	UTSW	5	90,756,798 (GRCm39)	utr 3 prime	probably benign
RF043:Rassf6	UTSW	5	90,756,791 (GRCm39)	utr 3 prime	probably benign
RF049:Rassf6	UTSW	5	90,756,772 (GRCm39)	utr 3 prime	probably benign
RF051:Rassf6	UTSW	5	90,756,788 (GRCm39)	utr 3 prime	probably benign
RF052:Rassf6	UTSW	5	90,756,775 (GRCm39)	utr 3 prime	probably benign
RF054:Rassf6	UTSW	5	90,756,790 (GRCm39)	utr 3 prime	probably benign
RF054:Rassf6	UTSW	5	90,756,783 (GRCm39)	utr 3 prime	probably benign
RF054:Rassf6	UTSW	5	90,756,770 (GRCm39)	utr 3 prime	probably benign
RF063:Rassf6	UTSW	5	90,756,801 (GRCm39)	nonsense	probably null
X0017:Rassf6	UTSW	5	90,754,648 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAGGCATCTGCTACCGCTG -3'
(R):5'- CCAGGAAATAGCAGTCATTCTTG -3'

Sequencing Primer
(F):5'- CCGCTGTTATTACTAACTTGAATGC -3'
(R):5'- TCTTGTTAATAAAAGCACGCCAGCG -3'

Posted On

2019-12-04