Mutagenetix > Incidental Mutations

Incidental Mutation 'R5633:Rassf6'

439971

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

043284-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5633 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90603076-90640657 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90604118 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 292 (H292R)

Ref Sequence

ENSEMBL: ENSMUSP00000144532 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031317
AA Change: H292R

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: H292R

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: H292R

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: H292R

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: ENSMUST00000202784
AA Change: H279R

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370
AA Change: H279R

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

0.0913

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (55/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,618,028	C125S	probably benign	Het
Abcb8	T	C	5: 24,403,109	L382P	probably damaging	Het
Acot3	A	G	12: 84,058,950		probably null	Het
Acsl6	A	T	11: 54,337,189	Q345L	probably benign	Het
Adcy8	A	G	15: 64,699,285	S1170P	probably damaging	Het
Ankrd28	T	G	14: 31,735,065	D182A	probably damaging	Het
B3galt5	A	T	16: 96,315,509	H114L	probably benign	Het
BC053393	C	T	11: 46,574,606	S9L	unknown	Het
Bcas2	T	A	3: 103,178,424	Y207*	probably null	Het
Best1	A	G	19: 9,992,103	L197P	probably benign	Het
Chil6	C	A	3: 106,388,752	C389F	probably damaging	Het
Chrna4	T	C	2: 181,029,460	T168A	probably damaging	Het
Ckmt1	C	G	2: 121,363,629		probably benign	Het
Dhcr7	T	C	7: 143,847,423	L441P	probably damaging	Het
Dmtn	T	C	14: 70,604,979	M365V	probably benign	Het
Dmxl1	T	A	18: 49,877,697	S974T	probably damaging	Het
Dnajb13	T	C	7: 100,507,419	D150G	probably benign	Het
Eef2k	C	A	7: 120,873,290		probably benign	Het
Elp2	T	A	18: 24,615,210	V213E	probably damaging	Het
Fbxo43	A	T	15: 36,162,095		probably null	Het
Gm11559	C	A	11: 99,864,586	C20*	probably null	Het
Gnb2	T	C	5: 137,529,192	I213V	probably benign	Het
Gnb5	C	T	9: 75,344,514	T306I	probably damaging	Het
Ica1	A	T	6: 8,667,257	I303N	possibly damaging	Het
Idh1	A	G	1: 65,165,136	Y272H	probably damaging	Het
Ikzf2	G	A	1: 69,539,097	Q273*	probably null	Het
Itpkb	A	T	1: 180,327,225		probably benign	Het
Kntc1	C	T	5: 123,819,057	T2143I	probably damaging	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Lmbrd1	C	A	1: 24,748,862	D464E	possibly damaging	Het
Med13	A	G	11: 86,278,931		probably benign	Het
Mn1	T	C	5: 111,420,326	F721L	possibly damaging	Het
Myo9a	T	A	9: 59,868,184	L1026Q	possibly damaging	Het
Olfr773	A	T	10: 129,186,849	F191I	probably benign	Het
P4htm	A	C	9: 108,579,723	D428E	probably damaging	Het
Parp8	C	T	13: 116,876,580	R602H	probably damaging	Het
Pkd2	T	A	5: 104,498,506	S726R	probably damaging	Het
Pla2g6	A	T	15: 79,299,142	I495N	possibly damaging	Het
Psmd5	A	G	2: 34,856,488	I359T	probably benign	Het
Rnf145	T	C	11: 44,560,088	I413T	probably damaging	Het
Rpn2	T	A	2: 157,283,596	V9D	possibly damaging	Het
Rpp30	T	C	19: 36,086,990	L57P	probably damaging	Het
Slc41a1	A	G	1: 131,846,587	H464R	possibly damaging	Het
Slc47a1	G	T	11: 61,369,261	P163Q	probably damaging	Het
Smc4	T	A	3: 69,008,110	I165K	probably damaging	Het
Stra6l	T	A	4: 45,881,455	I439K	probably benign	Het
Syt9	C	T	7: 107,425,296	T132I	probably damaging	Het
Trpm2	T	C	10: 77,938,353	I471V	possibly damaging	Het
Uap1l1	A	G	2: 25,363,349	M358T	probably benign	Het
Vmn1r91	A	T	7: 20,101,945	H263L	possibly damaging	Het
Zfp407	T	C	18: 84,561,044	D648G	probably benign	Het
Zpbp2	T	C	11: 98,554,758	I150T	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
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
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
X0017:Rassf6	UTSW	5	90606789	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGCCTGTTTACTCTGTAGAC -3'
(R):5'- AATGCTCGGATCTTCCTCATGG -3'

Sequencing Primer
(F):5'- TCAGGATAAAGGCCCTTTCG -3'
(R):5'- GCTCGGATCTTCCTCATGGATAAAG -3'

Posted On

2016-11-08