Mutagenetix > Incidental Mutation

Incidental Mutation 'R2877:Rassf6'

260597

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

040465-MU

Accession Numbers

Essential gene?

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

Stock #

R2877 (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 90606805 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 205 (V205I)

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: V218I

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

SMART Domains

Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: V218I

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: V218I

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

SMART Domains

Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: V218I

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: V205I

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

SMART Domains

Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370
AA Change: V205I

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

0.5796

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

96% (66/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	C	5: 109,738,945		probably benign	Het
Abca13	C	T	11: 9,291,889	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,859,410	M384K	probably damaging	Het
Adssl1	A	C	12: 112,634,189	K197N	probably damaging	Het
Alg11	A	G	8: 22,065,358	N170D	possibly damaging	Het
Ambn	T	C	5: 88,460,700		probably benign	Het
Anapc7	T	C	5: 122,428,156	Y43H	probably benign	Het
Anxa10	T	A	8: 62,060,339	I255F	probably damaging	Het
Atg2b	A	T	12: 105,664,009	Y374*	probably null	Het
Axl	T	A	7: 25,766,524	M563L	probably damaging	Het
Carmil2	A	G	8: 105,695,423	E1108G	probably damaging	Het
Casp1	T	C	9: 5,303,110	M188T	probably damaging	Het
Chd3	A	T	11: 69,361,172	C87*	probably null	Het
Col6a3	G	A	1: 90,775,599	T2475I	unknown	Het
Creb3l4	A	T	3: 90,242,308	S83R	probably damaging	Het
Cyp2a4	G	A	7: 26,312,187	E278K	possibly damaging	Het
Dync1li2	A	C	8: 104,429,415	Y265D	probably damaging	Het
Eif3f	G	A	7: 108,934,812		probably null	Het
Eipr1	C	T	12: 28,760,092	T22I	possibly damaging	Het
Fbxo48	A	G	11: 16,953,382	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,181,466	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,485,970	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,838,666	P60S	probably benign	Het
Foxa3	A	T	7: 19,014,880	M107K	probably benign	Het
Foxj2	G	A	6: 122,842,832	D560N	probably damaging	Het
Gfm2	A	G	13: 97,153,249	R181G	possibly damaging	Het
Gpr25	C	T	1: 136,260,815	G20D	possibly damaging	Het
Grin1	A	G	2: 25,297,629	V594A	probably damaging	Het
Itpripl1	A	G	2: 127,141,614	V196A	probably benign	Het
Kcns1	A	G	2: 164,164,762	I427T	probably damaging	Het
Kiz	T	C	2: 146,889,556	V322A	possibly damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Muc19	T	A	15: 91,893,006		noncoding transcript	Het
Naa16	A	G	14: 79,343,298	M592T	probably benign	Het
Nat6	A	T	9: 107,583,168	E87D	possibly damaging	Het
Ncapd3	T	A	9: 27,044,487		probably null	Het
Nebl	C	A	2: 17,434,929	D178Y	probably damaging	Het
Nedd1	T	A	10: 92,714,126	N99I	possibly damaging	Het
Nuak1	T	C	10: 84,375,345	D293G	possibly damaging	Het
Olfr1036	T	C	2: 86,075,331	M197T	possibly damaging	Het
Olfr1487	A	T	19: 13,619,632	I157F	probably damaging	Het
Palb2	A	G	7: 122,114,429	V877A	probably damaging	Het
Rbak	A	G	5: 143,174,105	Y398H	probably damaging	Het
Rcbtb1	A	G	14: 59,210,592		probably benign	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Smpdl3a	C	A	10: 57,809,085	T317K	probably damaging	Het
Speer4e	C	T	5: 14,937,116	V92M	probably damaging	Het
Syne2	A	G	12: 76,000,831	I4009V	probably benign	Het
Tarbp1	G	A	8: 126,427,832	L1474F	probably damaging	Het
Tchh	A	G	3: 93,444,228	E325G	unknown	Het
Trpc4	T	C	3: 54,291,340	S562P	probably damaging	Het
Ttn	T	C	2: 76,737,065	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,260,039	D258G	probably benign	Het
Vmn1r215	A	G	13: 23,076,561	H257R	probably benign	Het
Vmn2r56	A	C	7: 12,711,027	M433R	probably benign	Het
Vmn2r76	C	A	7: 86,225,993	C592F	probably benign	Het
Zcchc8	C	T	5: 123,700,703	V591I	probably benign	Het
Znhit6	G	C	3: 145,576,654	G96A	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
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'- GCATGACATCTTCCCAGCTC -3'
(R):5'- GGAGTTGCATCATCACTTCTTAG -3'

Sequencing Primer
(F):5'- TGGGCTACAGCTACCCCAAG -3'
(R):5'- ACTTCTTAGAATTACATCCCCCAC -3'

Posted On

2015-01-23