Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01139:Rassf6'

51183

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

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL01139

Quality Score

Status

Chromosome

Chromosomal Location

90603076-90640657 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 90608966 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 31 (*31W)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000031317
AA Change: T138A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: T138A

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: ENSMUST00000202704
AA Change: T138A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: T138A

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

SMART Domains

Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370

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 null
Transcript: ENSMUST00000202807
AA Change: *31W

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	T	1: 125,405,885	I215N	probably damaging	Het
Ambn	C	T	5: 88,464,517		probably benign	Het
Arhgef1	T	A	7: 24,925,951		probably benign	Het
Arid1a	A	C	4: 133,693,997	S832R	unknown	Het
Clca4a	A	T	3: 144,966,269	I304N	probably damaging	Het
Dmxl2	G	A	9: 54,458,964	P274S	probably damaging	Het
Eif4enif1	T	A	11: 3,221,143	D211E	probably damaging	Het
Eri2	A	G	7: 119,786,737		probably null	Het
Fhod3	C	T	18: 25,066,344	P691S	probably benign	Het
Flnb	A	G	14: 7,945,989	S2465G	probably damaging	Het
Ftsj1	G	A	X: 8,246,592	R171C	probably damaging	Het
Glb1l3	G	A	9: 26,818,227	T648I	probably benign	Het
Gm4222	T	A	2: 90,148,545		probably benign	Het
Gm438	A	T	4: 144,777,689	Y297*	probably null	Het
Gm5475	G	A	15: 100,424,215		probably benign	Het
Jaml	C	A	9: 45,101,019	T268N	possibly damaging	Het
Kank3	G	A	17: 33,817,401	G81E	probably damaging	Het
Lrba	A	G	3: 86,642,662	T217A	possibly damaging	Het
Ltn1	A	G	16: 87,416,009	S555P	probably benign	Het
Map3k15	T	A	X: 160,072,879	M350K	probably damaging	Het
Mipol1	C	A	12: 57,306,035	Y53*	probably null	Het
Mn1	A	G	5: 111,421,449	D1095G	probably damaging	Het
Myh14	T	C	7: 44,606,292		probably benign	Het
Nrn1	A	G	13: 36,730,216	C31R	probably damaging	Het
Nup210	A	T	6: 91,030,097	L579H	possibly damaging	Het
Nxf2	T	C	X: 134,950,396	I578V	probably benign	Het
Obscn	G	A	11: 59,078,352	A172V	probably damaging	Het
Olfr1006	T	G	2: 85,674,497	Y218S	probably damaging	Het
Olfr55	T	A	17: 33,176,782	Y123N	probably damaging	Het
Phtf1	A	G	3: 104,005,602	D748G	probably damaging	Het
Psd3	A	T	8: 67,908,535	Y863N	probably damaging	Het
Psmc6	C	T	14: 45,343,710	T321I	probably benign	Het
Rictor	A	C	15: 6,778,268	K791Q	probably damaging	Het
Slc12a9	C	T	5: 137,322,842	M470I	probably damaging	Het
Tex28	A	T	X: 74,151,224	M367K	possibly damaging	Het
Thnsl2	A	T	6: 71,138,734	V163D	probably damaging	Het
Tmco3	G	A	8: 13,319,887	R633Q	possibly damaging	Het
Trf	A	T	9: 103,223,604	V224D	probably damaging	Het
Ttc8	C	T	12: 98,964,545	Q273*	probably null	Het
Usp9x	A	G	X: 13,104,576		probably benign	Het
Vmn2r117	A	G	17: 23,477,804	W210R	probably damaging	Het
Vmn2r5	A	G	3: 64,491,405	S718P	probably benign	Het
Vps13a	T	C	19: 16,640,625	D2932G	probably damaging	Het
Whamm	T	C	7: 81,595,914	L706P	probably damaging	Het
Yeats2	G	A	16: 20,214,393	V45I	probably damaging	Het
Yipf3	G	A	17: 46,250,457		probably null	Het
Zeb1	T	C	18: 5,705,061	V26A	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
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
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

2013-06-21