Mutagenetix > Incidental Mutation

Incidental Mutation 'R0570:Rassf1'

46389

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

038761-MU

Accession Numbers

Essential gene?

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

Stock #

R0570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107428752-107439460 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107435165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 224 (T224I)

Ref Sequence

ENSEMBL: ENSMUSP00000113252 (fasta)

Gene Model

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

AlphaFold

Q99MK9

Predicted Effect

probably damaging
Transcript: ENSMUST00000010211
AA Change: T150I

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

SMART Domains

Protein: ENSMUSP00000010211
Gene: ENSMUSG00000010067
AA Change: T150I

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 damaging
Transcript: ENSMUST00000093786
AA Change: T220I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091301
Gene: ENSMUSG00000010067
AA Change: T220I

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 damaging
Transcript: ENSMUST00000122225
AA Change: T224I

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

SMART Domains

Protein: ENSMUSP00000113252
Gene: ENSMUSG00000010067
AA Change: T224I

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: ENSMUST00000129320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191832

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

0.8626

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (85/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	C	A	8: 84,729,733 (GRCm39)		probably benign	Het
Aadacl3	C	T	4: 144,190,130 (GRCm39)	W57*	probably null	Het
Abca2	G	T	2: 25,337,417 (GRCm39)		probably null	Het
Abca3	A	G	17: 24,593,373 (GRCm39)	I257V	probably benign	Het
Adamts2	A	G	11: 50,666,963 (GRCm39)	D420G	probably damaging	Het
Adamts5	A	G	16: 85,696,135 (GRCm39)	F341L	probably damaging	Het
Ahnak	T	A	19: 8,991,062 (GRCm39)	D4115E	probably damaging	Het
Arhgap20	T	C	9: 51,751,751 (GRCm39)	S365P	possibly damaging	Het
Atrn	G	A	2: 130,822,054 (GRCm39)	V916I	probably benign	Het
Blmh	T	C	11: 76,856,651 (GRCm39)	V82A	probably damaging	Het
C1ra	A	T	6: 124,490,664 (GRCm39)	Y19F	probably benign	Het
Cactin	A	G	10: 81,159,067 (GRCm39)	E306G	probably damaging	Het
Celsr1	C	T	15: 85,787,566 (GRCm39)	R2724Q	probably benign	Het
Clca4b	T	C	3: 144,631,110 (GRCm39)	E250G	probably benign	Het
Col17a1	A	T	19: 47,654,317 (GRCm39)	S647T	possibly damaging	Het
Cope	T	A	8: 70,759,181 (GRCm39)	D74E	probably damaging	Het
Dsg1c	T	C	18: 20,403,435 (GRCm39)	I198T	probably damaging	Het
Elfn2	T	C	15: 78,557,434 (GRCm39)	N371S	probably damaging	Het
Elmo2	G	T	2: 165,146,839 (GRCm39)	A246D	probably benign	Het
Ewsr1	A	T	11: 5,035,935 (GRCm39)	M187K	possibly damaging	Het
Faap100	A	T	11: 120,265,114 (GRCm39)	S587R	possibly damaging	Het
Fam234b	C	T	6: 135,186,247 (GRCm39)	S85L	probably benign	Het
Fanca	A	T	8: 124,033,169 (GRCm39)	S292R	probably benign	Het
Fanci	G	A	7: 79,093,711 (GRCm39)	C1021Y	probably damaging	Het
Fhod3	T	C	18: 25,245,640 (GRCm39)	I1230T	probably benign	Het
Fmo5	T	C	3: 97,536,456 (GRCm39)	L27S	probably damaging	Het
Fmo9	A	G	1: 166,502,031 (GRCm39)	V147A	probably null	Het
Fnbp4	A	G	2: 90,583,301 (GRCm39)	Y309C	probably damaging	Het
Foxb1	T	C	9: 69,666,844 (GRCm39)	T229A	probably benign	Het
Gapvd1	A	G	2: 34,618,552 (GRCm39)	Y274H	probably damaging	Het
Gbp8	T	C	5: 105,165,541 (GRCm39)		probably null	Het
Gcn1	T	A	5: 115,730,480 (GRCm39)	L888Q	probably damaging	Het
Gm17490	T	C	2: 11,630,460 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,237,785 (GRCm39)		probably null	Het
H2-Q1	A	G	17: 35,540,373 (GRCm39)	T153A	possibly damaging	Het
Ina	A	C	19: 47,011,938 (GRCm39)	E452A	probably benign	Het
Kars1	A	G	8: 112,721,494 (GRCm39)		probably null	Het
Kif1c	A	G	11: 70,595,291 (GRCm39)	E124G	probably damaging	Het
Lpin3	T	C	2: 160,745,944 (GRCm39)		probably benign	Het
Lrp1	A	T	10: 127,390,878 (GRCm39)	C3006*	probably null	Het
Lyst	T	C	13: 13,883,971 (GRCm39)	L2953P	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Melk	T	C	4: 44,308,906 (GRCm39)	Y88H	probably damaging	Het
Myrf	A	G	19: 10,189,161 (GRCm39)	S857P	probably damaging	Het
Nos2	A	G	11: 78,826,187 (GRCm39)	I153M	possibly damaging	Het
Or4n4	T	G	14: 50,519,370 (GRCm39)	L113F	probably benign	Het
Otof	A	G	5: 30,529,225 (GRCm39)		probably benign	Het
Patl2	A	G	2: 121,955,789 (GRCm39)	V249A	probably damaging	Het
Pcgf5	A	G	19: 36,389,580 (GRCm39)	Y19C	probably benign	Het
Pcnt	A	T	10: 76,247,941 (GRCm39)	V951E	probably damaging	Het
Pcolce2	T	C	9: 95,520,710 (GRCm39)	V29A	probably benign	Het
Pdgfrb	A	T	18: 61,210,775 (GRCm39)	M761L	probably benign	Het
Pi16	A	T	17: 29,538,189 (GRCm39)	M1L	possibly damaging	Het
Pkd2	T	A	5: 104,603,471 (GRCm39)		probably benign	Het
Plcb2	A	G	2: 118,547,806 (GRCm39)	W474R	probably benign	Het
Psapl1	A	G	5: 36,361,624 (GRCm39)	D72G	possibly damaging	Het
Ptpn5	T	A	7: 46,728,681 (GRCm39)		probably benign	Het
Ptprg	A	G	14: 12,215,896 (GRCm38)	E1115G	probably damaging	Het
Rbpms2	T	A	9: 65,566,476 (GRCm39)	C168*	probably null	Het
Rhag	A	G	17: 41,139,804 (GRCm39)		probably benign	Het
Rhebl1	C	T	15: 98,779,034 (GRCm39)	V17I	probably benign	Het
Rnf130	A	T	11: 49,986,703 (GRCm39)	D349V	possibly damaging	Het
Rprd1a	A	G	18: 24,642,952 (GRCm39)	L60P	probably damaging	Het
Rspry1	T	C	8: 95,356,420 (GRCm39)	I25T	probably damaging	Het
Ruvbl2	C	T	7: 45,071,621 (GRCm39)	V421M	probably damaging	Het
Sap30	T	C	8: 57,936,000 (GRCm39)	N209D	possibly damaging	Het
Sfswap	T	C	5: 129,581,042 (GRCm39)		probably benign	Het
Slc1a2	G	A	2: 102,586,352 (GRCm39)	V319M	probably damaging	Het
Smad2	T	C	18: 76,422,250 (GRCm39)		probably benign	Het
Spdya	T	C	17: 71,869,585 (GRCm39)		probably null	Het
Stk39	G	A	2: 68,240,392 (GRCm39)	T113M	probably damaging	Het
Tanc1	A	G	2: 59,626,382 (GRCm39)		probably benign	Het
Tas2r122	T	C	6: 132,688,774 (GRCm39)	K40E	probably damaging	Het
Tph2	G	T	10: 115,010,039 (GRCm39)		probably benign	Het
Trip12	G	A	1: 84,729,269 (GRCm39)	S1083F	probably damaging	Het
Tsc2	A	T	17: 24,845,701 (GRCm39)	C206S	probably damaging	Het
Tsc22d4	A	G	5: 137,760,681 (GRCm39)	Q34R	possibly damaging	Het
Uroc1	G	T	6: 90,315,546 (GRCm39)	M142I	possibly damaging	Het
Uso1	T	C	5: 92,347,682 (GRCm39)	S766P	probably benign	Het
Usp21	G	A	1: 171,111,319 (GRCm39)		probably benign	Het
Usp48	T	A	4: 137,360,437 (GRCm39)	I658K	possibly damaging	Het
Vmn1r206	T	C	13: 22,804,583 (GRCm39)	H208R	probably damaging	Het
Vmn2r109	C	T	17: 20,760,937 (GRCm39)	A807T	probably damaging	Het
Zfp329	A	T	7: 12,544,379 (GRCm39)	C382S	probably damaging	Het
Zfp341	A	G	2: 154,487,988 (GRCm39)	E817G	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TAGTGCGTCCTGTTTCAGTGCC -3'
(R):5'- TGCAAGAAGCCGCAGCTTCAAG -3'

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

Posted On

2013-06-11