Mutagenetix > Incidental Mutation

Incidental Mutation 'R2167:Rassf6'

235537

Institutional Source

Beutler Lab

Gene Symbol

Rassf6

Ensembl Gene

ENSMUSG00000029370

Gene Name

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

Synonyms

1600016B17Rik

MMRRC Submission

040170-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R2167 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90603076-90640657 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90603938 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 308 (E308K)

Ref Sequence

ENSEMBL: ENSMUSP00000144337 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031317
AA Change: E321K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: E321K

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 damaging
Transcript: ENSMUST00000202704
AA Change: E321K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: E321K

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 damaging
Transcript: ENSMUST00000202784
AA Change: E308K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370
AA Change: E308K

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

Meta Mutation Damage Score

0.2421

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (57/58)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,288,532	T710M	probably benign	Het
Acan	A	G	7: 79,099,957	E1492G	probably benign	Het
Acsl1	A	G	8: 46,533,590	D638G	possibly damaging	Het
Acsl6	C	A	11: 54,327,157	T207K	probably benign	Het
Ahnak	A	T	19: 9,011,494	K3381*	probably null	Het
Art1	T	C	7: 102,106,824	V74A	probably damaging	Het
Bhmt2	A	T	13: 93,662,504	W270R	probably benign	Het
Calm2	T	C	17: 87,435,145	T118A	probably benign	Het
Ccdc88b	G	T	19: 6,854,084	Q497K	possibly damaging	Het
Ccne2	A	T	4: 11,197,249	M183L	probably benign	Het
Cdc42bpg	A	G	19: 6,317,677	I1026V	probably damaging	Het
Celsr2	T	C	3: 108,413,193	T768A	probably damaging	Het
Cog5	T	C	12: 31,837,289	F470L	probably damaging	Het
Cpne5	T	C	17: 29,162,332	D374G	probably damaging	Het
Disp2	A	C	2: 118,791,685	E966A	probably damaging	Het
Dmrtc2	C	T	7: 24,873,919		probably benign	Het
Eif2b3	T	A	4: 117,028,540	I93N	probably damaging	Het
Elfn2	C	A	15: 78,672,446	V634L	probably benign	Het
Fasl	T	G	1: 161,787,138	S119R	probably benign	Het
Foxp2	C	G	6: 15,437,902	P701A	probably damaging	Het
Helz	T	A	11: 107,672,964		probably benign	Het
Kctd6	T	C	14: 8,222,683	V175A	probably benign	Het
Leo1	A	G	9: 75,445,709	N178S	probably benign	Het
Lhx6	C	A	2: 36,103,359	R80L	probably damaging	Het
Man1a2	A	G	3: 100,591,900	L406P	probably damaging	Het
Mapkap1	T	C	2: 34,597,482	F231L	probably damaging	Het
Mknk2	A	G	10: 80,668,701	Y256H	probably damaging	Het
Msh6	A	G	17: 87,989,483	T1203A	probably damaging	Het
Nbeal2	T	C	9: 110,638,308	Y604C	probably damaging	Het
Ncam1	G	T	9: 49,568,481	Q66K	probably benign	Het
Nsd2	T	A	5: 33,882,919	H933Q	probably damaging	Het
Olfr1341	T	C	4: 118,710,055	V216A	probably benign	Het
Olfr1564	T	A	17: 33,215,568	I262F	probably damaging	Het
Olfr191	T	A	16: 59,085,586	K299I	probably benign	Het
Olfr709-ps1	A	G	7: 106,926,590	Y290H	probably damaging	Het
Pappa	A	C	4: 65,156,445	D412A	probably damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rb1	T	C	14: 73,211,651	T680A	probably damaging	Het
Rfpl4	T	A	7: 5,110,853	I104F	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnase6	A	C	14: 51,130,517	D122A	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,579,906		probably benign	Het
Sec31b	G	A	19: 44,543,353	T39I	possibly damaging	Het
Slc12a1	A	G	2: 125,173,681	I385V	probably damaging	Het
Slc6a17	A	T	3: 107,491,501	Y261*	probably null	Het
Supt6	G	A	11: 78,208,167	P1626L	possibly damaging	Het
Tbx15	A	G	3: 99,326,455		probably benign	Het
Telo2	A	G	17: 25,110,818	V240A	probably benign	Het
Trhr	C	T	15: 44,229,242	L292F	probably damaging	Het
Trps1	G	A	15: 50,831,730	L340F	possibly damaging	Het
Ube2e1	T	C	14: 18,284,429		probably benign	Het
Yeats2	T	C	16: 20,213,401		probably benign	Het
Zbtb39	G	A	10: 127,742,975	E473K	probably benign	Het
Zfp235	T	A	7: 24,140,962	S269T	possibly damaging	Het
Zfp580	C	A	7: 5,053,064	P141Q	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- GGCATTCGTTCGTCCAAAGC -3'
(R):5'- AGGGTGCTTCTTAACCTAAAACC -3'

Sequencing Primer
(F):5'- GCTTCAGAGCCATGCATATTAGG -3'
(R):5'- AGGTGGCTCCGTACATTAATTTTCAC -3'

Posted On

2014-10-01