Mutagenetix > Incidental Mutation

Incidental Mutation 'R8086:Rassf1'

629661

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

067519-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R8086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107428752-107439460 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107435173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 223 (R223C)

Ref Sequence

ENSEMBL: ENSMUSP00000091301 (fasta)

Gene Model

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

AlphaFold

Q99MK9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010211
AA Change: R153C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000010211
Gene: ENSMUSG00000010067
AA Change: R153C

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
AA Change: R223C

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000091301
Gene: ENSMUSG00000010067
AA Change: R223C

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

probably damaging
Transcript: ENSMUST00000122225
AA Change: R227C

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113252
Gene: ENSMUSG00000010067
AA Change: R227C

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

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

Meta Mutation Damage Score

0.1952

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 98.9%
20x: 96.4%

Validation Efficiency

98% (51/52)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,055,808 (GRCm39)	H372L		Het
Abcb1a	A	T	5: 8,724,833 (GRCm39)	T89S	probably benign	Het
Ago1	A	G	4: 126,354,774 (GRCm39)	V146A	probably benign	Het
App	T	C	16: 84,917,428 (GRCm39)	Y72C	unknown	Het
Arhgap20	T	C	9: 51,760,563 (GRCm39)	S805P	probably benign	Het
Bak1	T	A	17: 27,239,911 (GRCm39)	R208S	probably benign	Het
Btnl4	A	C	17: 34,692,976 (GRCm39)		probably null	Het
Cacng7	T	C	7: 3,387,518 (GRCm39)	S134P	probably benign	Het
Capn9	A	T	8: 125,334,692 (GRCm39)		probably null	Het
Cox4i1	T	A	8: 121,400,779 (GRCm39)	M148K	probably damaging	Het
Ctnna1	A	G	18: 35,285,713 (GRCm39)	I20V	possibly damaging	Het
Dennd2c	T	A	3: 103,040,661 (GRCm39)	Y309N	possibly damaging	Het
Dnah14	C	A	1: 181,593,797 (GRCm39)	T3380K	probably damaging	Het
Dnajc3	G	T	14: 119,208,192 (GRCm39)	E276*	probably null	Het
Dock10	C	A	1: 80,481,707 (GRCm39)	C1772F	probably benign	Het
Fank1	A	T	7: 133,454,959 (GRCm39)	E26D	possibly damaging	Het
Fcgbp	G	T	7: 27,813,389 (GRCm39)	C2308F	probably damaging	Het
Fyco1	A	T	9: 123,659,471 (GRCm39)	M235K	probably damaging	Het
Gm7361	C	T	5: 26,465,446 (GRCm39)	R148C	probably damaging	Het
Hinfp	C	T	9: 44,210,286 (GRCm39)	R183Q	probably damaging	Het
Hpd	T	C	5: 123,314,252 (GRCm39)	Y221C	probably benign	Het
Hrnr	A	T	3: 93,230,728 (GRCm39)	H322L	unknown	Het
Il6st	T	A	13: 112,631,094 (GRCm39)		probably null	Het
Impa1	T	C	3: 10,387,988 (GRCm39)	K145E	probably benign	Het
Itga9	A	T	9: 118,679,869 (GRCm39)	M847L	probably benign	Het
Itgb6	A	G	2: 60,480,376 (GRCm39)	V320A	probably damaging	Het
Lrrfip1	T	A	1: 91,043,630 (GRCm39)	H678Q	probably benign	Het
Mettl16	A	G	11: 74,696,091 (GRCm39)	T311A	probably benign	Het
Nefl	T	C	14: 68,323,480 (GRCm39)	Y369H	probably damaging	Het
Or1d2	C	A	11: 74,255,780 (GRCm39)	P95Q	probably benign	Het
Pkd1	A	G	17: 24,800,188 (GRCm39)	Y2983C	probably damaging	Het
Potegl	A	G	2: 23,130,934 (GRCm39)		probably null	Het
Prr5l	C	T	2: 101,571,709 (GRCm39)	E123K	probably benign	Het
Ptprq	A	T	10: 107,482,500 (GRCm39)	Y1024*	probably null	Het
Ramp2	T	A	11: 101,138,762 (GRCm39)	L147Q	probably damaging	Het
Rcbtb2	T	C	14: 73,411,305 (GRCm39)	F357L	probably damaging	Het
Rnf24	A	G	2: 131,145,468 (GRCm39)	V114A	probably benign	Het
Slc7a1	T	G	5: 148,288,899 (GRCm39)	N116T	probably damaging	Het
Sstr2	T	C	11: 113,515,998 (GRCm39)	C306R	probably damaging	Het
Tatdn2	T	C	6: 113,686,482 (GRCm39)	S697P	probably damaging	Het
Tmem67	T	A	4: 12,040,738 (GRCm39)	N935I	probably damaging	Het
Trp73	G	A	4: 154,201,052 (GRCm39)	P4S	unknown	Het
Vmn1r237	T	G	17: 21,534,509 (GRCm39)	D77E	possibly damaging	Het
Vmn1r238	C	T	18: 3,123,250 (GRCm39)	A55T	probably damaging	Het
Vsig10l	C	A	7: 43,114,876 (GRCm39)	A359E	possibly damaging	Het
Wdr24	T	C	17: 26,045,101 (GRCm39)	Y279H	probably damaging	Het
Zbtb25	A	G	12: 76,395,923 (GRCm39)	V433A	probably benign	Het
Zfp180	C	A	7: 23,805,535 (GRCm39)	D651E	probably benign	Het
Zfp979	T	C	4: 147,698,004 (GRCm39)	D235G	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
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
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

PCR Primer
(F):5'- TTCAGCTGAAACTAGTGCGTCC -3'
(R):5'- TTCAAGGGCTGCTCGTCATC -3'

Sequencing Primer
(F):5'- AAACTAGTGCGTCCTGTTTCAG -3'
(R):5'- TTAAAGACAGACTCAGGTGGCTC -3'

Posted On

2020-06-30