Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00773:Rassf6'

13769

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: 0.089) question?

Stock #

IGL00773

Quality Score

Status

Chromosome

Chromosomal Location

90603076-90640657 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90604140 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 272 (V272M)

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: V285M

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

SMART Domains

Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: V285M

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: V285M

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

SMART Domains

Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: V285M

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: V272M

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

SMART Domains

Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370
AA Change: V272M

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	T	C	2: 114,048,113		probably benign	Het
Aff1	C	T	5: 103,784,077	S195F	probably damaging	Het
Atm	G	T	9: 53,522,144	H269N	probably benign	Het
Ccdc144b	A	G	3: 36,035,337	L146P	probably damaging	Het
Cdc25c	A	T	18: 34,747,241	S147T	probably benign	Het
Cdnf	A	G	2: 3,519,355	D57G	possibly damaging	Het
Cep170	T	C	1: 176,755,399	D1138G	probably damaging	Het
Cfap70	A	G	14: 20,447,534	S51P	probably damaging	Het
Csmd3	A	G	15: 47,590,719	M3577T	probably damaging	Het
Cyb5rl	C	T	4: 107,084,296	A246V	probably benign	Het
Dcaf1	T	A	9: 106,858,333	S827T	probably benign	Het
Epha3	T	A	16: 63,566,684	Q862L	probably damaging	Het
Igsf10	A	G	3: 59,331,539	V407A	probably benign	Het
Myh2	T	C	11: 67,194,421	I1751T	probably benign	Het
Pcm1	T	C	8: 41,274,277	L528P	probably damaging	Het
Pla2g7	T	G	17: 43,602,871	I235S	probably damaging	Het
Plekhh2	C	T	17: 84,606,868	T1233M	probably benign	Het
Ptpn21	C	T	12: 98,688,313	M798I	probably benign	Het
Ptprz1	A	G	6: 23,002,629	K1573E	probably benign	Het
Rprd2	A	T	3: 95,765,109	F994Y	probably damaging	Het
Slc13a1	C	T	6: 24,118,017	M240I	possibly damaging	Het
Slc22a6	A	T	19: 8,621,868	I288F	probably benign	Het
Slc6a3	T	A	13: 73,544,741	I160N	probably damaging	Het
Slfn10-ps	T	A	11: 83,035,529		noncoding transcript	Het
Snx14	A	T	9: 88,394,539	D564E	probably damaging	Het
Tceanc	T	A	X: 166,502,861	L179F	probably benign	Het
Tpm2	T	C	4: 43,518,251	K251E	probably damaging	Het
Trpm2	T	A	10: 77,949,214	R191*	probably null	Het
Trpm3	T	A	19: 22,900,159	M602K	possibly damaging	Het
Zbtb21	A	T	16: 97,952,320	D282E	probably benign	Het

Other mutations in Rassf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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