Mutagenetix > Incidental Mutations

Incidental Mutation 'RF018:Rassf6'

603665

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

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

RF018 (G1)

Quality Score

215.468

Status

Not validated

Chromosome

Chromosomal Location

90603076-90640657 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

AGCAATGGGGATTC to AGCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGCGCAATGGGGATTC at 90608929 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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

100% (54/54)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	GTGGCTGCT	GTGGCTGCTTTGGCTGCT	1: 82,913,572		probably benign	Het
Abca15	T	A	7: 120,394,460	V1301E	possibly damaging	Het
Adcy10	T	A	1: 165,552,109	V980E	probably damaging	Het
Aldh1a2	T	C	9: 71,285,270	V469A	probably damaging	Het
Alk	T	A	17: 71,949,813	T684S	probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,560,912		probably benign	Het
Anks1b	G	A	10: 90,033,225	G49D	probably damaging	Het
Blm	CCTCCTCC	CCTCCTCCTCCTACTCCTCC	7: 80,512,926		probably null	Het
Btnl10	CAAA	CAAAAAA	11: 58,923,926		probably benign	Het
C130060K24Rik	T	A	6: 65,456,190	Y331*	probably null	Het
Ccdc81	C	A	7: 89,866,698		probably null	Het
Cd209g	A	G	8: 4,137,398	Y194C	probably benign	Het
Cenpc1	A	T	5: 86,045,369	S220R	possibly damaging	Het
Ddx42	A	T	11: 106,232,804		probably null	Het
Dock4	GTGCCGGTGCCCGT	G	12: 40,844,399		probably null	Het
Eif5b	A	T	1: 38,021,592		probably null	Het
Ell2	C	A	13: 75,763,608	H338N	probably damaging	Het
Entpd2	CTT	CTTT	2: 25,400,895		probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACGCACTCCTGGTGT	17: 23,762,166		probably null	Het
Gm8369	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	19: 11,511,742		probably null	Het
Gnat2	T	C	3: 108,096,329	S107P	unknown	Het
Guk1	T	A	11: 59,186,408	D70V	probably benign	Het
Itpkb	C	T	1: 180,333,322	R338W	probably damaging	Het
Krtap28-10	ACCACAGCCACAGCCACCACAGCCACAGCC	ACCACAGCCACAGCCCCCACAGCCACAGCCACCACAGCCACAGCC	1: 83,042,253		probably benign	Het
Lamp3	A	C	16: 19,701,250	I61R	probably benign	Het
Lrch1	GCTGGTGGTGT	G	14: 74,947,555		probably null	Het
Lrp1b	C	T	2: 41,110,907	E2216K		Het
Lrrc27	A	G	7: 139,226,100	D227G	probably benign	Het
Lrrk1	C	T	7: 66,381,502	G16E	possibly damaging	Het
Lrrtm1	T	A	6: 77,244,351	S264T	possibly damaging	Het
Lypd8	CCAATCACCAACA	CCAATCACCAACAGTTTCCTCGCCTCTGTTACCCCACCAATCACCAACA	11: 58,390,232		probably benign	Het
Mamld1	CAG	CAGAAG	X: 71,118,849		probably benign	Het
Mpo	G	C	11: 87,797,639	A375P	probably damaging	Het
Myo9a	A	G	9: 59,869,586	H1089R	probably benign	Het
Ndufc2	T	C	7: 97,407,021	*109Q	probably null	Het
Nudt16	A	T	9: 105,131,699	Y28N	probably damaging	Het
Nudt4	A	T	10: 95,549,813		probably null	Het
Nusap1	AGATACACGTTAGCAGTGAGGAGCAAGCTG	AGATACACGTTAGCAGTGAGGAGCAAGCTGCGATACACGTTAGCAGTGAGGAGCAAGCTG	2: 119,627,578		probably benign	Het
Olfr697	T	A	7: 106,741,485	I150F	probably benign	Het
P2ry12	T	A	3: 59,217,412	T281S	probably benign	Het
P4ha2	TGTTGG	T	11: 54,110,246		probably null	Het
Pcnx2	A	G	8: 125,877,519	V666A	probably damaging	Het
Pde6a	T	A	18: 61,231,403	I177N	possibly damaging	Het
Pgm2	A	T	4: 99,962,303		probably null	Het
Plce1	T	A	19: 38,717,207	W1019R	probably damaging	Het
Plch1	C	A	3: 63,721,215	K542N	probably damaging	Het
Plekhj1	T	C	10: 80,796,637	Q113R	not run	Het
Postn	A	T	3: 54,384,492	I705F	probably damaging	Het
Ppp1r15b	G	T	1: 133,131,614		probably benign	Het
Prkab1	T	C	5: 116,021,630	E59G	probably damaging	Het
Raph1	GG	GGGGG	1: 60,489,267		probably benign	Het
Rnf144a	TCTC	TCTCTCTCTCTCTCTCACTC	12: 26,314,014		probably benign	Het
Ros1	T	A	10: 52,155,121	M484L	probably benign	Het
Rpa1	GCTGCTGCC	GC	11: 75,318,517		probably null	Het
Sectm1b	A	G	11: 121,054,930	V195A	probably benign	Het
Sirpa	TCATCAG	T	2: 129,609,203		probably null	Het
Slc28a1	T	A	7: 81,169,284		probably null	Het
Sphk1	G	C	11: 116,534,945	S42T	possibly damaging	Het
Spta1	T	C	1: 174,209,319	L1132P	probably damaging	Het
Srrt	A	T	5: 137,300,000	N303K	probably benign	Het
Ssh2	A	G	11: 77,454,054	E955G	probably damaging	Het
Strn	CCAGTC	CCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCACAGTC	17: 78,677,283		probably null	Het
Tchhl1	T	C	3: 93,470,384	F132L	probably benign	Het
Tex14	A	G	11: 87,514,746	E828G	probably benign	Het
Tfeb	CAG	CAGGAG	17: 47,786,095		probably benign	Het
Tmem28	CGCCGC	CGCCGCTGCCGC	X: 99,821,361		probably benign	Het
Tmtc1	T	C	6: 148,247,511	Y699C	probably damaging	Het
Ubn1	A	G	16: 5,064,392	Y239C	probably damaging	Het
Vmn2r23	T	G	6: 123,713,116	L317R	probably benign	Het
Vmn2r78	C	T	7: 86,954,431	R606*	probably null	Het
Vps72	T	G	3: 95,121,408		probably null	Het
Zc3h11a	A	G	1: 133,627,115	S376P	possibly damaging	Het
Zfp384	GCCCAGGC	GCCCAGGCCCAGTCCCAGGC	6: 125,036,489		probably benign	Het
Zfp598	CAACCAC	CAACCACAACCAC	17: 24,680,771		probably benign	Het
Zfp628	TACTCCTCCACCC	T	7: 4,920,949		probably benign	Het

Other mutations in Rassf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Rassf6	APN	5	90604140	missense	probably damaging	1.00
IGL00819:Rassf6	APN	5	90604071	missense	probably benign	0.03
IGL01139:Rassf6	APN	5	90608966	makesense	probably null
IGL03114:Rassf6	APN	5	90608790	splice site	probably benign
R1956:Rassf6	UTSW	5	90615871	nonsense	probably null
R2167:Rassf6	UTSW	5	90603938	missense	probably damaging	1.00
R2351:Rassf6	UTSW	5	90631559	missense	probably benign	0.05
R2877:Rassf6	UTSW	5	90606805	missense	probably damaging	1.00
R3943:Rassf6	UTSW	5	90604326	missense	possibly damaging	0.49
R3944:Rassf6	UTSW	5	90604326	missense	possibly damaging	0.49
R4131:Rassf6	UTSW	5	90609787	missense	probably damaging	1.00
R5134:Rassf6	UTSW	5	90604366	critical splice acceptor site	probably null
R5153:Rassf6	UTSW	5	90606840	missense	possibly damaging	0.81
R5633:Rassf6	UTSW	5	90604118	missense	possibly damaging	0.84
R5994:Rassf6	UTSW	5	90617768	missense	probably damaging	1.00
R6000:Rassf6	UTSW	5	90603877	missense	probably damaging	1.00
R6746:Rassf6	UTSW	5	90609774	missense	possibly damaging	0.80
R7038:Rassf6	UTSW	5	90609725	missense	probably benign	0.13
R7190:Rassf6	UTSW	5	90606807	missense	probably damaging	1.00
R7549:Rassf6	UTSW	5	90606802	missense	probably damaging	1.00
RF002:Rassf6	UTSW	5	90608921	utr 3 prime	probably benign
RF002:Rassf6	UTSW	5	90608925	nonsense	probably null
RF004:Rassf6	UTSW	5	90608919	utr 3 prime	probably benign
RF011:Rassf6	UTSW	5	90608921	utr 3 prime	probably benign
RF013:Rassf6	UTSW	5	90608941	utr 3 prime	probably benign
RF032:Rassf6	UTSW	5	90608939	utr 3 prime	probably benign
RF034:Rassf6	UTSW	5	90608912	utr 3 prime	probably benign
RF034:Rassf6	UTSW	5	90608917	utr 3 prime	probably benign
RF034:Rassf6	UTSW	5	90608923	utr 3 prime	probably benign
RF035:Rassf6	UTSW	5	90608908	utr 3 prime	probably benign
RF036:Rassf6	UTSW	5	90608915	utr 3 prime	probably benign
RF038:Rassf6	UTSW	5	90608924	utr 3 prime	probably benign
RF038:Rassf6	UTSW	5	90608930	utr 3 prime	probably benign
RF039:Rassf6	UTSW	5	90608915	utr 3 prime	probably benign
RF039:Rassf6	UTSW	5	90608939	utr 3 prime	probably benign
RF043:Rassf6	UTSW	5	90608932	utr 3 prime	probably benign
RF043:Rassf6	UTSW	5	90608939	utr 3 prime	probably benign
RF049:Rassf6	UTSW	5	90608913	utr 3 prime	probably benign
RF051:Rassf6	UTSW	5	90608929	utr 3 prime	probably benign
RF052:Rassf6	UTSW	5	90608916	utr 3 prime	probably benign
RF052:Rassf6	UTSW	5	90608923	utr 3 prime	probably benign
RF054:Rassf6	UTSW	5	90608911	utr 3 prime	probably benign
RF054:Rassf6	UTSW	5	90608924	utr 3 prime	probably benign
RF054:Rassf6	UTSW	5	90608931	utr 3 prime	probably benign
RF063:Rassf6	UTSW	5	90608942	nonsense	probably null
X0017:Rassf6	UTSW	5	90606789	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2019-12-04