Mutagenetix > Incidental Mutation

Incidental Mutation 'R3902:Rassf1'

474506

Institutional Source

Beutler Lab

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

MMRRC Submission

040811-MU

Accession Numbers

Essential gene?

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

Stock #

R3902 (G1)

Quality Score

109

Status

Not validated

Chromosome

Chromosomal Location

107428752-107439460 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107432039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 21 (Y21C)

Ref Sequence

ENSEMBL: ENSMUSP00000010211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010188] [ENSMUST00000010211] [ENSMUST00000093786] [ENSMUST00000122225] [ENSMUST00000193303] [ENSMUST00000156198]

AlphaFold

Q99MK9

Predicted Effect

probably benign
Transcript: ENSMUST00000010188

SMART Domains

Protein: ENSMUSP00000010188
Gene: ENSMUSG00000010044

Domain	Start	End	E-Value	Type
Pfam:zf-MYND	394	430	1.1e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000010211
AA Change: Y21C

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

SMART Domains

Protein: ENSMUSP00000010211
Gene: ENSMUSG00000010067
AA Change: Y21C

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

noncoding transcript
Transcript: ENSMUST00000193782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191832

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144129

Predicted Effect

probably benign
Transcript: ENSMUST00000193303

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atmin	A	G	8: 117,683,036 (GRCm39)	N232S	probably benign	Het
Brat1	A	C	5: 140,703,751 (GRCm39)	D668A	possibly damaging	Het
Eif2b3	C	T	4: 116,879,404 (GRCm39)	R15W	probably damaging	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
F5	A	G	1: 164,003,798 (GRCm39)	T198A	probably benign	Het
Fbxl20	T	A	11: 97,987,861 (GRCm39)	T61S	probably benign	Het
Fry	A	G	5: 150,269,392 (GRCm39)	E211G	probably damaging	Het
Gatd1	A	G	7: 140,989,014 (GRCm39)	L215P	probably damaging	Het
Gys2	A	G	6: 142,418,526 (GRCm39)	M1T	probably null	Het
Hacd4	A	C	4: 88,355,738 (GRCm39)	I49R	probably damaging	Het
Jph3	G	T	8: 122,480,158 (GRCm39)	D279Y	possibly damaging	Het
Klhl26	T	C	8: 70,905,016 (GRCm39)	D217G	probably damaging	Het
Kmt2e	A	G	5: 23,706,640 (GRCm39)	N1401S	probably benign	Het
Mettl21a	C	T	1: 64,647,240 (GRCm39)	V106I	probably benign	Het
Mpdz	A	G	4: 81,225,353 (GRCm39)	V1427A	probably damaging	Het
Mug2	A	T	6: 122,052,526 (GRCm39)	D1024V	probably damaging	Het
Myl7	T	A	11: 5,848,430 (GRCm39)	K38M	probably damaging	Het
Myl7	T	G	11: 5,848,431 (GRCm39)	K38Q	probably damaging	Het
Myom2	T	C	8: 15,154,165 (GRCm39)	V701A	probably benign	Het
Nipbl	A	G	15: 8,379,730 (GRCm39)	S1021P	possibly damaging	Het
Optc	A	G	1: 133,825,701 (GRCm39)	M275T	probably benign	Het
Pclo	A	T	5: 14,762,536 (GRCm39)	T385S	probably benign	Het
Pdgfra	T	A	5: 75,353,169 (GRCm39)	N986K	probably benign	Het
Pira1	G	A	7: 3,740,276 (GRCm39)	T315I	probably damaging	Het
Plekhn1	T	A	4: 156,310,126 (GRCm39)	I63F	possibly damaging	Het
Pogk	C	T	1: 166,231,193 (GRCm39)	V45I	probably damaging	Het
Slc12a1	A	T	2: 125,030,113 (GRCm39)	I562F	probably damaging	Het
Slc16a6	A	G	11: 109,349,387 (GRCm39)	S141P	probably damaging	Het
Sntn	T	C	14: 13,679,084 (GRCm38)	L86P	probably damaging	Het
Styx-ps	A	G	X: 67,865,253 (GRCm39)	M101V	probably benign	Het
Taar4	T	A	10: 23,836,913 (GRCm39)	N174K	probably damaging	Het
Trav12-3	G	T	14: 53,859,486 (GRCm39)	C44F	probably damaging	Het
Triml2	A	G	8: 43,643,397 (GRCm39)	R240G	probably benign	Het
Vmn1r3	A	G	4: 3,185,241 (GRCm39)	M22T	probably benign	Het
Vmn2r7	C	A	3: 64,626,937 (GRCm39)	Q26H	possibly damaging	Het
Vmn2r72	T	C	7: 85,398,943 (GRCm39)	D470G	possibly damaging	Het
Xpo6	A	G	7: 125,719,581 (GRCm39)	Y602H	probably damaging	Het
Zfp287	T	C	11: 62,603,028 (GRCm39)	T241A	probably benign	Het
Zfp386	A	G	12: 116,023,775 (GRCm39)	K498E	probably damaging	Het
Zzef1	T	C	11: 72,799,326 (GRCm39)	L2392P	probably damaging	Het

Other mutations in Rassf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Rassf1	APN	9	107,435,510 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

Posted On

2017-04-14