Mutagenetix > Incidental Mutations

Incidental Mutation 'R3943:Rassf6'

307536

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

040924-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R3943 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90603076-90640657 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 90604326 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 258 (Q258K)

Ref Sequence

ENSEMBL: ENSMUSP00000144532 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031317
AA Change: Q258K

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: Q258K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202704
AA Change: Q258K

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: Q258K

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: Q245K

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370
AA Change: Q245K

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

0.0976

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (49/50)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,269,524	L603*	probably null	Het
6030419C18Rik	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	9: 58,499,432		probably benign	Het
Adnp	A	G	2: 168,185,060	I105T	possibly damaging	Het
Atf3	A	G	1: 191,171,516	I171T	possibly damaging	Het
Atp6v0a1	A	G	11: 101,055,517	I773V	probably benign	Het
Cad	T	A	5: 31,072,385		probably null	Het
Camkv	T	A	9: 107,947,983	D366E	possibly damaging	Het
Dnah8	T	A	17: 30,694,065		probably benign	Het
Dock7	A	G	4: 98,992,431	S932P	probably damaging	Het
Fam227a	C	T	15: 79,620,859		probably benign	Het
Fbp2	A	G	13: 62,841,793	F233S	possibly damaging	Het
Gm7534	T	C	4: 134,200,345	T366A	probably benign	Het
Gnptab	G	T	10: 88,433,894	V820L	probably benign	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Gpr158	C	A	2: 21,368,559	R102S	possibly damaging	Het
Gramd1b	A	T	9: 40,531,044	M1K	probably null	Het
H2-T23	A	G	17: 36,030,643	V312A	probably benign	Het
Hltf	A	T	3: 20,092,744	I494F	probably damaging	Het
Il16	G	A	7: 83,652,015	L300F	probably damaging	Het
Kcnq1	T	C	7: 143,426,088	L657P	probably damaging	Het
Krt4	G	A	15: 101,921,250	T281M	probably benign	Het
Mia3	A	G	1: 183,358,783	F196S	possibly damaging	Het
Naip6	T	C	13: 100,294,739	T1197A	probably benign	Het
Nrxn2	T	A	19: 6,473,335	N204K	probably damaging	Het
Olfr845	T	A	9: 19,339,075	M205K	probably benign	Het
Rhpn1	T	C	15: 75,711,806	L380P	probably damaging	Het
Ribc2	A	G	15: 85,135,250	M78V	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Skint5	T	A	4: 113,942,753	H73L	probably damaging	Het
Smg6	G	A	11: 74,929,541	G213R	probably damaging	Het
Sspn	T	A	6: 145,934,357	W62R	probably damaging	Het
Stard9	A	G	2: 120,698,229	S1656G	probably benign	Het
Svep1	T	A	4: 58,084,807		probably null	Het
Tab1	T	C	15: 80,153,740	L258P	probably damaging	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Tnrc6c	C	T	11: 117,723,529	R838W	probably damaging	Het
Trf	T	A	9: 103,222,952	I271F	probably benign	Het
Trpm7	A	T	2: 126,831,218	N538K	possibly damaging	Het
Usp28	T	A	9: 49,000,366	L25I	probably benign	Het
Vmn2r14	A	T	5: 109,216,064	I662N	probably damaging	Het
Vmn2r42	A	T	7: 8,194,780	F280Y	possibly damaging	Het
Vps8	A	T	16: 21,470,123	N411Y	probably damaging	Het
Vwa2	T	G	19: 56,909,315	L684R	probably damaging	Het
Zfp712	T	C	13: 67,041,332	Q377R	probably benign	Het
Zfp947	C	A	17: 22,145,820	G291V	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
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
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
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'- CAGGAGGTTTTAGGTTAAGAAGCAC -3'
(R):5'- GTCACATGTTCCTTGGGGTC -3'

Sequencing Primer
(F):5'- TTAAGAAGCACCCTGTCAGTG -3'
(R):5'- TAATGGGGCATGGCTCTCC -3'

Posted On

2015-04-17