Incidental Mutation 'IGL02494:Rsu1'
ID 295798
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rsu1
Ensembl Gene ENSMUSG00000026727
Gene Name Ras suppressor protein 1
Synonyms RsuI, rsp-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # IGL02494
Quality Score
Status
Chromosome 2
Chromosomal Location 13081778-13276255 bp(-) (GRCm39)
Type of Mutation splice site (1915 bp from exon)
DNA Base Change (assembly) T to C at 13222002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028059] [ENSMUST00000114791] [ENSMUST00000134551] [ENSMUST00000137670] [ENSMUST00000191959]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000028059
AA Change: I161V

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000028059
Gene: ENSMUSG00000026727
AA Change: I161V

DomainStartEndE-ValueType
LRR 39 61 1.12e1 SMART
LRR 62 84 5.26e0 SMART
LRR 85 107 2.17e-1 SMART
LRR 108 132 3.65e1 SMART
LRR 133 155 1.37e1 SMART
LRR 156 177 1.71e1 SMART
LRR_TYP 179 202 8.34e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114791
AA Change: I144V

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000110439
Gene: ENSMUSG00000026727
AA Change: I144V

DomainStartEndE-ValueType
Blast:CUB 1 36 6e-13 BLAST
LRR 45 67 5.26e0 SMART
LRR 68 90 2.17e-1 SMART
LRR 91 115 3.65e1 SMART
LRR 116 138 1.37e1 SMART
LRR 139 160 1.71e1 SMART
LRR_TYP 162 185 8.34e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131226
Predicted Effect probably benign
Transcript: ENSMUST00000134551
SMART Domains Protein: ENSMUSP00000125338
Gene: ENSMUSG00000026727

DomainStartEndE-ValueType
Blast:CUB 1 44 3e-21 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000137670
SMART Domains Protein: ENSMUSP00000117460
Gene: ENSMUSG00000026727

DomainStartEndE-ValueType
LRR 39 61 1.12e1 SMART
LRR 62 85 2.49e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161912
SMART Domains Protein: ENSMUSP00000125279
Gene: ENSMUSG00000026727

DomainStartEndE-ValueType
Blast:CUB 1 38 7e-17 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162223
Predicted Effect probably benign
Transcript: ENSMUST00000191959
SMART Domains Protein: ENSMUSP00000141763
Gene: ENSMUSG00000026727

DomainStartEndE-ValueType
Blast:CUB 1 36 2e-15 BLAST
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 that is involved in the Ras signal transduction pathway, growth inhibition, and nerve-growth factor induced differentiation processes, as determined in mouse and human cell line studies. In mouse, the encoded protein was initially isolated based on its ability to inhibit v-Ras transformation. Multiple alternatively spliced transcript variants for this gene have been reported; one of these variants was found only in glioma tumors. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldob C T 4: 49,541,138 (GRCm39) C178Y possibly damaging Het
Arg2 A G 12: 79,198,697 (GRCm39) R242G probably benign Het
Ash1l T A 3: 88,973,525 (GRCm39) L2528* probably null Het
Astn2 T A 4: 65,910,585 (GRCm39) M468L probably benign Het
Bglap2 A T 3: 88,285,243 (GRCm39) C74* probably null Het
Cand1 A G 10: 119,049,522 (GRCm39) V408A probably benign Het
Ccdc14 A G 16: 34,543,784 (GRCm39) Y714C probably damaging Het
Ccdc88c C T 12: 100,911,734 (GRCm39) G707D probably benign Het
Cdk13 G A 13: 17,913,710 (GRCm39) R890* probably null Het
Cep192 A G 18: 67,937,453 (GRCm39) E61G probably benign Het
Ctdspl T C 9: 118,866,484 (GRCm39) L181P probably damaging Het
Dock7 C T 4: 98,877,471 (GRCm39) V442M probably benign Het
Dop1a T C 9: 86,408,871 (GRCm39) V1860A probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fscn2 G A 11: 120,253,228 (GRCm39) V232M probably benign Het
Gemin5 A T 11: 58,012,583 (GRCm39) C1458S probably benign Het
Glrb A G 3: 80,752,539 (GRCm39) V408A probably benign Het
Gtse1 C T 15: 85,751,704 (GRCm39) P299L probably damaging Het
Hcfc1r1 T A 17: 23,893,559 (GRCm39) M46K probably damaging Het
Hdc A G 2: 126,436,041 (GRCm39) F610S probably benign Het
Hip1 A T 5: 135,473,645 (GRCm39) C224* probably null Het
Hsd17b10 G T X: 150,787,230 (GRCm39) A241S probably benign Het
Igsf10 G T 3: 59,235,427 (GRCm39) Q1585K probably damaging Het
Kat2b T C 17: 53,960,233 (GRCm39) Y514H probably damaging Het
Krt78 T C 15: 101,862,486 (GRCm39) I58M probably benign Het
Lcat C A 8: 106,668,571 (GRCm39) probably benign Het
Naca G A 10: 127,877,179 (GRCm39) probably benign Het
Nbea T C 3: 55,712,772 (GRCm39) K2102E probably benign Het
Ocrl G A X: 47,022,315 (GRCm39) D262N probably benign Het
Or1e35 A C 11: 73,797,550 (GRCm39) I256S possibly damaging Het
Or4b1b G A 2: 90,112,295 (GRCm39) S208F probably benign Het
Or4n4 A T 14: 50,519,683 (GRCm39) V9D probably damaging Het
Or7c19 C A 8: 85,957,312 (GRCm39) L63I possibly damaging Het
Patj T A 4: 98,592,224 (GRCm39) probably benign Het
Pcdhb17 G A 18: 37,618,347 (GRCm39) A46T possibly damaging Het
Phf8 T C X: 150,408,227 (GRCm39) V859A probably benign Het
Plec T A 15: 76,060,979 (GRCm39) E3054V probably damaging Het
Prr12 C A 7: 44,678,270 (GRCm39) K1958N unknown Het
Psmf1 A G 2: 151,582,929 (GRCm39) probably null Het
Samm50 T C 15: 84,080,015 (GRCm39) V31A probably benign Het
St14 A G 9: 31,019,941 (GRCm39) V56A possibly damaging Het
Trpc1 T C 9: 95,590,360 (GRCm39) N699S probably damaging Het
Ttn A T 2: 76,574,144 (GRCm39) M25583K probably damaging Het
Utrn A G 10: 12,585,798 (GRCm39) V993A probably benign Het
Other mutations in Rsu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02411:Rsu1 APN 2 13,082,308 (GRCm39) utr 3 prime probably benign
R0276:Rsu1 UTSW 2 13,174,946 (GRCm39) intron probably benign
R3052:Rsu1 UTSW 2 13,174,946 (GRCm39) intron probably benign
R4598:Rsu1 UTSW 2 13,174,815 (GRCm39) missense probably damaging 1.00
R4599:Rsu1 UTSW 2 13,174,815 (GRCm39) missense probably damaging 1.00
R4797:Rsu1 UTSW 2 13,221,537 (GRCm39) intron probably benign
R5896:Rsu1 UTSW 2 13,229,170 (GRCm39) missense probably damaging 1.00
R7292:Rsu1 UTSW 2 13,174,827 (GRCm39) missense probably damaging 1.00
R7469:Rsu1 UTSW 2 13,082,371 (GRCm39) missense probably benign
R7485:Rsu1 UTSW 2 13,221,686 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16