Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02973:Rassf8'

365914

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rassf8

Ensembl Gene

ENSMUSG00000030259

Gene Name

Ras association (RalGDS/AF-6) domain family (N-terminal) member 8

Synonyms

5133400D11Rik, mHoj-1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.774) question?

Stock #

IGL02973

Quality Score

Status

Chromosome

Chromosomal Location

145746748-145821079 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 145817190 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032388] [ENSMUST00000058538] [ENSMUST00000111704] [ENSMUST00000140966]

Predicted Effect

probably benign
Transcript: ENSMUST00000032388

SMART Domains

Protein: ENSMUSP00000032388
Gene: ENSMUSG00000030259

Domain	Start	End	E-Value	Type
RA	1	82	4.17e-11	SMART
coiled coil region	161	354	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000058538

Predicted Effect

probably benign
Transcript: ENSMUST00000111704

SMART Domains

Protein: ENSMUSP00000107333
Gene: ENSMUSG00000030259

Domain	Start	End	E-Value	Type
RA	1	82	4.17e-11	SMART
coiled coil region	161	354	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140966

SMART Domains

Protein: ENSMUSP00000122684
Gene: ENSMUSG00000030259

Domain	Start	End	E-Value	Type
RA	1	80	7.85e-7	SMART

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-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	A	G	2: 163,731,133	L193P	probably benign	Het
Ago2	A	T	15: 73,123,465		probably benign	Het
Ankrd26	A	G	6: 118,523,550	S987P	probably damaging	Het
Ap2a2	T	C	7: 141,631,364	F938L	possibly damaging	Het
Arhgap35	A	G	7: 16,562,878	V754A	possibly damaging	Het
Atp10b	A	T	11: 43,197,509	N314I	probably damaging	Het
Atp5a1	T	C	18: 77,780,149	V291A	probably damaging	Het
Ccm2	C	A	11: 6,584,544	P19T	probably damaging	Het
Cdc5l	C	A	17: 45,404,647	A680S	probably benign	Het
Cds1	A	G	5: 101,812,510	T276A	probably damaging	Het
Cit	A	G	5: 116,005,999	R1976G	possibly damaging	Het
Col6a5	T	C	9: 105,925,821	D1315G	unknown	Het
Emilin1	T	G	5: 30,920,663	L922R	probably damaging	Het
Fank1	T	C	7: 133,876,849	L213P	probably damaging	Het
Foxc2	T	C	8: 121,118,049	S479P	probably benign	Het
Gm14548	T	C	7: 3,897,240	Y121C	probably damaging	Het
Golgb1	G	A	16: 36,912,080	R563H	possibly damaging	Het
Hoxb13	A	G	11: 96,194,843	Y134C	probably damaging	Het
Krtap4-16	A	T	11: 99,851,341	C78S	possibly damaging	Het
Lars	C	T	18: 42,214,759		probably null	Het
Lipe	T	C	7: 25,383,632	N740S	probably damaging	Het
Mbd1	C	T	18: 74,275,427		probably benign	Het
Mbd5	A	G	2: 49,313,709	D1700G	probably damaging	Het
Mpp7	A	G	18: 7,403,297	Y338H	probably damaging	Het
Pdgfrl	A	G	8: 40,985,594	D189G	probably damaging	Het
Plxnc1	T	C	10: 94,810,684	N1293S	probably damaging	Het
Ppm1e	C	A	11: 87,240,662	A302S	probably damaging	Het
Rttn	T	C	18: 88,972,494	W52R	probably damaging	Het
Skint8	T	C	4: 111,939,593	V298A	probably benign	Het
Tulp1	A	T	17: 28,358,542		probably benign	Het
Unc5c	T	A	3: 141,788,890	D321E	probably benign	Het
Usp16	G	A	16: 87,479,739	C654Y	probably damaging	Het
Vwce	G	A	19: 10,655,400	W575*	probably null	Het
Wdr89	T	G	12: 75,633,099	D127A	probably damaging	Het
Zc3h6	G	A	2: 128,997,795	R176Q	probably damaging	Het
Zfp942	A	G	17: 21,932,991		probably null	Het

Other mutations in Rassf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03017:Rassf8	APN	6	145817198	splice site	probably null
IGL03091:Rassf8	APN	6	145815810	missense	probably benign	0.00
R0230:Rassf8	UTSW	6	145819974	unclassified	probably benign
R0967:Rassf8	UTSW	6	145819950	unclassified	probably benign
R1429:Rassf8	UTSW	6	145815190	missense	probably damaging	1.00
R1622:Rassf8	UTSW	6	145820103	unclassified	probably benign
R1738:Rassf8	UTSW	6	145815308	missense	probably benign	0.03
R1894:Rassf8	UTSW	6	145808473	missense	probably damaging	1.00
R2126:Rassf8	UTSW	6	145815182	missense	probably benign	0.00
R2238:Rassf8	UTSW	6	145817184	missense	probably damaging	1.00
R2439:Rassf8	UTSW	6	145815334	missense	probably damaging	1.00
R3699:Rassf8	UTSW	6	145820076	unclassified	probably benign
R4678:Rassf8	UTSW	6	145815082	missense	probably damaging	1.00
R4734:Rassf8	UTSW	6	145815540	missense	probably benign	0.34
R4826:Rassf8	UTSW	6	145816550	missense	probably damaging	1.00
R4910:Rassf8	UTSW	6	145815280	nonsense	probably null
R4988:Rassf8	UTSW	6	145817144	missense	possibly damaging	0.89
R5425:Rassf8	UTSW	6	145815542	missense	probably benign
R5620:Rassf8	UTSW	6	145820181	unclassified	probably benign
R5747:Rassf8	UTSW	6	145815815	missense	probably benign	0.00
R6136:Rassf8	UTSW	6	145815656	missense	probably benign	0.00
R6220:Rassf8	UTSW	6	145817133	missense	probably damaging	1.00
R7274:Rassf8	UTSW	6	145815569	missense	probably benign	0.03
R7315:Rassf8	UTSW	6	145815751	missense	probably benign
R7480:Rassf8	UTSW	6	145820031	missense	unknown
R7593:Rassf8	UTSW	6	145815403	missense	probably benign	0.08
R7714:Rassf8	UTSW	6	145815247	missense	probably damaging	0.98
R7962:Rassf8	UTSW	6	145815943	critical splice donor site	probably null
R8222:Rassf8	UTSW	6	145820057	missense	unknown
R8374:Rassf8	UTSW	6	145815137	nonsense	probably null
R8409:Rassf8	UTSW	6	145815703	missense	probably benign
Z1088:Rassf8	UTSW	6	145815482	missense	probably benign
Z1088:Rassf8	UTSW	6	145816616	missense	probably benign	0.41
Z1176:Rassf8	UTSW	6	145816642	nonsense	probably null

Posted On

2015-12-18