Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00940:Rassf1'

28190

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rassf1

Ensembl Gene

ENSMUSG00000010067

Gene Name

Ras association (RalGDS/AF-6) domain family member 1

Synonyms

Rassf1A, RDA32, REH3P21, Rassf1C, Rassf1B, 123F protein, NORE2A

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

IGL00940

Quality Score

Status

Chromosome

Chromosomal Location

107428752-107439460 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 107435510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010198] [ENSMUST00000010211] [ENSMUST00000093786] [ENSMUST00000122225] [ENSMUST00000156198]

AlphaFold

Q99MK9

Predicted Effect

probably benign
Transcript: ENSMUST00000010198

SMART Domains

Protein: ENSMUSP00000010198
Gene: ENSMUSG00000010054

Domain	Start	End	E-Value	Type
Pfam:TUSC2	1	109	9.2e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000010211

SMART Domains

Protein: ENSMUSP00000010211
Gene: ENSMUSG00000010067

Domain	Start	End	E-Value	Type
low complexity region	98	115	N/A	INTRINSIC
RA	124	218	6.26e-24	SMART
PDB:4LGD\|H	219	264	3e-13	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000093786

SMART Domains

Protein: ENSMUSP00000091301
Gene: ENSMUSG00000010067

Domain	Start	End	E-Value	Type
C1	44	101	4.7e-7	SMART
low complexity region	168	185	N/A	INTRINSIC
RA	194	288	6.26e-24	SMART
PDB:4LGD\|H	289	334	3e-12	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121635

SMART Domains

Protein: ENSMUSP00000113037
Gene: ENSMUSG00000010067

Domain	Start	End	E-Value	Type
low complexity region	50	67	N/A	INTRINSIC
RA	76	170	6.26e-24	SMART
PDB:4LGD\|H	171	216	1e-13	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000122225

SMART Domains

Protein: ENSMUSP00000113252
Gene: ENSMUSG00000010067

Domain	Start	End	E-Value	Type
C1	44	105	1.92e-3	SMART
low complexity region	172	189	N/A	INTRINSIC
RA	198	292	6.26e-24	SMART
Pfam:Nore1-SARAH	299	338	4.2e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125386

Predicted Effect

probably benign
Transcript: ENSMUST00000156198

SMART Domains

Protein: ENSMUSP00000117722
Gene: ENSMUSG00000010067

Domain	Start	End	E-Value	Type
Blast:C1	44	83	6e-24	BLAST
SCOP:d1ptq__	52	82	5e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191832

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129320

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 protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found to interact with DNA repair protein XPA. The protein was also shown to inhibit the accumulation of cyclin D1, and thus induce cell cycle arrest. Several alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, May 2011]
PHENOTYPE: Homozygous and heterozygous null mice display increased tumor incidence, especially of lung adenomas and lymphomas, and increased sensitivity to chemically induced tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks1	A	G	17: 28,276,328 (GRCm39)	N1024D	probably damaging	Het
Cts7	A	G	13: 61,504,723 (GRCm39)		probably null	Het
Dock3	T	A	9: 106,788,576 (GRCm39)		probably benign	Het
Fbxo6	A	G	4: 148,230,567 (GRCm39)	F232L	probably benign	Het
Hsd3b6	A	T	3: 98,713,940 (GRCm39)	F120I	probably damaging	Het
Il4ra	G	A	7: 125,168,347 (GRCm39)		probably null	Het
Irs4	A	T	X: 140,505,140 (GRCm39)	F1019I	unknown	Het
Klc1	A	G	12: 111,753,932 (GRCm39)	T464A	probably damaging	Het
Mical3	T	C	6: 120,999,371 (GRCm39)	T660A	possibly damaging	Het
Ndufs7	T	A	10: 80,090,955 (GRCm39)	V158E	probably damaging	Het
Nhs	T	A	X: 160,620,226 (GRCm39)	N1510I	probably damaging	Het
Or51e2	A	G	7: 102,391,469 (GRCm39)	V247A	probably damaging	Het
Or8k38	T	G	2: 86,488,070 (GRCm39)	H244P	probably damaging	Het
Pole2	G	A	12: 69,262,134 (GRCm39)	T148I	probably damaging	Het
Pramel1	T	A	4: 143,124,126 (GRCm39)	L267H	probably damaging	Het
Rag1	T	C	2: 101,472,733 (GRCm39)	E803G	probably damaging	Het
Rnf220	T	C	4: 117,164,872 (GRCm39)	K210R	probably benign	Het
Setd7	T	A	3: 51,440,459 (GRCm39)	D194V	probably damaging	Het
Snd1	T	C	6: 28,745,174 (GRCm39)		probably benign	Het
Spmip9	C	A	6: 70,890,372 (GRCm39)	R140L	probably benign	Het
Ssb	T	A	2: 69,701,179 (GRCm39)		probably null	Het
Tlr5	T	C	1: 182,801,761 (GRCm39)	V355A	possibly damaging	Het
Ush2a	A	T	1: 188,090,158 (GRCm39)	R414*	probably null	Het
Zfyve26	A	G	12: 79,327,674 (GRCm39)	S559P	probably benign	Het

Other mutations in Rassf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0570:Rassf1	UTSW	9	107,435,165 (GRCm39)	missense	probably damaging	1.00
R1548:Rassf1	UTSW	9	107,429,045 (GRCm39)	missense	probably benign	0.00
R1826:Rassf1	UTSW	9	107,435,392 (GRCm39)	missense	probably damaging	0.99
R2312:Rassf1	UTSW	9	107,434,749 (GRCm39)	missense	probably damaging	1.00
R2899:Rassf1	UTSW	9	107,431,393 (GRCm39)	missense	probably null	0.00
R3902:Rassf1	UTSW	9	107,432,039 (GRCm39)	missense	probably damaging	1.00
R4705:Rassf1	UTSW	9	107,435,066 (GRCm39)	missense	probably benign	0.04
R5491:Rassf1	UTSW	9	107,438,614 (GRCm39)	missense	possibly damaging	0.95
R5733:Rassf1	UTSW	9	107,435,213 (GRCm39)	missense	probably damaging	1.00
R5863:Rassf1	UTSW	9	107,435,023 (GRCm39)	missense	probably damaging	1.00
R5986:Rassf1	UTSW	9	107,429,021 (GRCm39)	missense	possibly damaging	0.51
R7571:Rassf1	UTSW	9	107,428,982 (GRCm39)	missense	possibly damaging	0.70
R7841:Rassf1	UTSW	9	107,438,744 (GRCm39)	makesense	probably null
R8086:Rassf1	UTSW	9	107,435,173 (GRCm39)	missense	probably benign	0.38
R8784:Rassf1	UTSW	9	107,435,041 (GRCm39)	missense	probably benign
R8880:Rassf1	UTSW	9	107,434,740 (GRCm39)	missense	probably damaging	0.99
R8979:Rassf1	UTSW	9	107,429,004 (GRCm39)	missense	probably benign	0.03

Posted On

2013-04-17