Incidental Mutation 'R5491:Rassf1'
ID 432086
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 043052-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R5491 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 107428752-107439460 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107438614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 228 (M228K)
Ref Sequence ENSEMBL: ENSMUSP00000010211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010198] [ENSMUST00000010211] [ENSMUST00000093786] [ENSMUST00000122225] [ENSMUST00000193418] [ENSMUST00000156198]
AlphaFold Q99MK9
Predicted Effect probably benign
Transcript: ENSMUST00000010198
SMART Domains Protein: ENSMUSP00000010198
Gene: ENSMUSG00000010054

DomainStartEndE-ValueType
Pfam:TUSC2 1 109 9.2e-47 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000010211
AA Change: M228K

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000010211
Gene: ENSMUSG00000010067
AA Change: M228K

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000093786
AA Change: M298K

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000091301
Gene: ENSMUSG00000010067
AA Change: M298K

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000122225
AA Change: M302K

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113252
Gene: ENSMUSG00000010067
AA Change: M302K

DomainStartEndE-ValueType
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: ENSMUST00000125386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194628
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191832
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181099
Predicted Effect probably benign
Transcript: ENSMUST00000193418
SMART Domains Protein: ENSMUSP00000141635
Gene: ENSMUSG00000010054

DomainStartEndE-ValueType
Pfam:TUSC2 1 102 7.4e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156198
SMART Domains Protein: ENSMUSP00000117722
Gene: ENSMUSG00000010067

DomainStartEndE-ValueType
Blast:C1 44 83 6e-24 BLAST
SCOP:d1ptq__ 52 82 5e-10 SMART
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 95.0%
  • 20x: 89.9%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G T 19: 31,895,462 (GRCm39) A182S possibly damaging Het
Aldh1l2 A T 10: 83,358,649 (GRCm39) D2E probably benign Het
Bach2 G T 4: 32,562,681 (GRCm39) D383Y probably damaging Het
Cd248 T C 19: 5,120,237 (GRCm39) L695P probably damaging Het
Cela1 T A 15: 100,580,861 (GRCm39) N132Y probably damaging Het
Cisd2 A T 3: 135,114,601 (GRCm39) D123E probably damaging Het
Col6a6 T A 9: 105,615,435 (GRCm39) D1571V probably damaging Het
Eif4a3l1 C G 6: 136,306,555 (GRCm39) R339G probably damaging Het
Fbxo48 C T 11: 16,904,280 (GRCm39) T144M probably damaging Het
Fbxo7 C A 10: 85,883,890 (GRCm39) P497Q probably damaging Het
Garin5b T C 7: 4,760,925 (GRCm39) I596V probably benign Het
Gm12695 T A 4: 96,657,905 (GRCm39) H88L possibly damaging Het
Gpat4 A G 8: 23,670,680 (GRCm39) I133T probably benign Het
Hmcn1 C T 1: 150,485,576 (GRCm39) probably null Het
Ncaph T C 2: 126,965,595 (GRCm39) T252A probably benign Het
Nebl G T 2: 17,439,783 (GRCm39) Y163* probably null Het
Neurod4 C T 10: 130,106,936 (GRCm39) V113I possibly damaging Het
Or13j1 A G 4: 43,705,990 (GRCm39) S193P probably damaging Het
Or3a1d A T 11: 74,237,740 (GRCm39) H103Q probably benign Het
Or4f56 T A 2: 111,703,907 (GRCm39) I98F probably benign Het
Pbxip1 T A 3: 89,350,466 (GRCm39) M37K probably benign Het
Phactr2 T C 10: 13,137,590 (GRCm39) N184S possibly damaging Het
Phf20l1 C T 15: 66,487,634 (GRCm39) P480L possibly damaging Het
Psme4 T C 11: 30,765,246 (GRCm39) S538P possibly damaging Het
Rpn2 A G 2: 157,139,303 (GRCm39) D231G probably damaging Het
She A T 3: 89,739,097 (GRCm39) D96V probably damaging Het
Shisal1 C A 15: 84,290,711 (GRCm39) V199L probably benign Het
Tmem260 T A 14: 48,749,627 (GRCm39) probably null Het
Ttn T A 2: 76,562,702 (GRCm39) I28751F probably damaging Het
Zfp60 T G 7: 27,447,940 (GRCm39) probably null Het
Other mutations in Rassf1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GGACTTAAAGAGTTGGCTTAGC -3'
(R):5'- GGCACGCTCTTTGCACTG -3'

Sequencing Primer
(F):5'- TTCTGAAGGACCCGGGTTCAATAC -3'
(R):5'- GCTCTTTGCACTGCCTGTTC -3'
Posted On 2016-10-05