Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00819:Rassf6'

13768

Institutional Source

Australian Phenomics Network (link to record)

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: 0.131) question?

Stock #

IGL00819

Quality Score

Status

Chromosome

Chromosomal Location

90603076-90640657 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90604071 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 308 (K308E)

Ref Sequence

ENSEMBL: ENSMUSP00000144532 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031317
AA Change: K308E

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: K308E

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
AA Change: K308E

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: K308E

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
AA Change: K295E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370
AA Change: K295E

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	T	3: 96,683,034		probably null	Het
Apaf1	G	T	10: 90,997,340		probably null	Het
Ash1l	T	A	3: 89,007,736	V1891E	possibly damaging	Het
Atm	A	G	9: 53,518,531	S402P	probably damaging	Het
Camk2g	C	T	14: 20,737,330	G500S	probably damaging	Het
Ccdc150	T	A	1: 54,263,573	N117K	probably damaging	Het
Ccl7	A	G	11: 82,046,575	N45S	probably benign	Het
Dnah2	A	T	11: 69,473,350		probably null	Het
Efcab6	A	G	15: 84,018,642	I169T	probably benign	Het
Exo1	T	C	1: 175,896,237	V383A	probably benign	Het
Fbxl2	A	G	9: 113,983,979		probably benign	Het
Fryl	A	T	5: 73,148,108	V106D	possibly damaging	Het
Fsip1	C	A	2: 118,249,912	R121L	possibly damaging	Het
Igsf9	T	C	1: 172,496,636	S789P	probably benign	Het
Klf7	T	C	1: 64,042,317	D284G	possibly damaging	Het
Mbtd1	A	G	11: 93,931,811		probably null	Het
Mef2c	A	T	13: 83,625,380	D125V	probably damaging	Het
Nectin4	T	C	1: 171,384,686	L284S	probably damaging	Het
Numa1	G	T	7: 101,992,710	G122W	possibly damaging	Het
Pcbd1	A	C	10: 61,092,140	E27A	probably benign	Het
Pclo	A	G	5: 14,858,846	N5056S	unknown	Het
Pelp1	G	A	11: 70,394,618	P808L	unknown	Het
Ppp1r12a	T	C	10: 108,240,821	S304P	probably damaging	Het
Ppp1r7	T	A	1: 93,346,256	D51E	probably benign	Het
Rel	A	T	11: 23,743,029	F335I	probably benign	Het
Scnn1g	A	G	7: 121,740,437	E153G	probably benign	Het
Slc2a5	T	C	4: 150,125,656	Y33H	probably damaging	Het
Slit2	G	A	5: 47,989,151	E95K	possibly damaging	Het
Tpra1	T	A	6: 88,909,336	Y65*	probably null	Het
Trip12	C	T	1: 84,754,272	G994S	probably damaging	Het
Trnt1	T	A	6: 106,776,222	Y195*	probably null	Het
Ttn	A	G	2: 76,743,050	I17506T	probably damaging	Het
Ubr4	C	T	4: 139,476,282	T4761I	possibly damaging	Het
Vmn1r204	T	A	13: 22,556,947	Y249*	probably null	Het
Zfp212	C	T	6: 47,931,322	P412S	probably damaging	Het
Zhx1	A	G	15: 58,054,694	V52A	probably benign	Het
Zpbp2	A	T	11: 98,557,592	H245L	probably damaging	Het

Other mutations in Rassf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Rassf6	APN	5	90604140	missense	probably damaging	1.00
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
R8497:Rassf6	UTSW	5	90631532	missense	possibly damaging	0.83
R9472:Rassf6	UTSW	5	90617713	nonsense	probably null
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
RF018:Rassf6	UTSW	5	90608929	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

Posted On

2012-12-06