Incidental Mutation 'R3052:Rsu1'
ID 264978
Institutional Source Beutler Lab
Gene Symbol Rsu1
Ensembl Gene ENSMUSG00000026727
Gene Name Ras suppressor protein 1
Synonyms RsuI, rsp-1
MMRRC Submission 040561-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R3052 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 13081778-13276255 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 13174946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028059] [ENSMUST00000114791] [ENSMUST00000191959]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000028059
SMART Domains Protein: ENSMUSP00000028059
Gene: ENSMUSG00000026727

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
SMART Domains Protein: ENSMUSP00000110439
Gene: ENSMUSG00000026727

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: ENSMUST00000161912
SMART Domains Protein: ENSMUSP00000125279
Gene: ENSMUSG00000026727

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

DomainStartEndE-ValueType
Blast:CUB 1 36 2e-15 BLAST
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 100% (38/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 G A 8: 46,974,374 (GRCm39) V330I probably benign Het
Adcy5 T C 16: 35,124,086 (GRCm39) L1255P probably damaging Het
Ampd2 C T 3: 107,993,803 (GRCm39) probably benign Het
Asb18 T A 1: 89,920,707 (GRCm39) H149L probably damaging Het
Atp8b1 T C 18: 64,686,179 (GRCm39) E668G probably benign Het
Axdnd1 T C 1: 156,169,440 (GRCm39) T809A probably damaging Het
B430306N03Rik T C 17: 48,623,938 (GRCm39) S80P probably damaging Het
Banp G A 8: 122,732,426 (GRCm39) probably null Het
Capn2 G A 1: 182,315,337 (GRCm39) T306M probably benign Het
Ccpg1 A T 9: 72,913,150 (GRCm39) S229C probably damaging Het
Cep250 G T 2: 155,832,968 (GRCm39) S1630I probably damaging Het
Ces1g C A 8: 94,061,676 (GRCm39) V77L possibly damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Col6a3 T A 1: 90,729,852 (GRCm39) H1211L possibly damaging Het
Cyp2a5 A G 7: 26,542,410 (GRCm39) I471V possibly damaging Het
Gm10384 A G 15: 36,871,996 (GRCm39) noncoding transcript Het
Gm973 T C 1: 59,672,299 (GRCm39) probably benign Het
Ift88 C T 14: 57,668,025 (GRCm39) P9S probably damaging Het
Mfsd2a A G 4: 122,845,635 (GRCm39) L172P probably damaging Het
Nav3 T A 10: 109,739,613 (GRCm39) I119F probably damaging Het
Nbeal2 T C 9: 110,462,153 (GRCm39) E1428G possibly damaging Het
Or12e7 C A 2: 87,288,247 (GRCm39) T246K probably damaging Het
Phf13 T C 4: 152,076,820 (GRCm39) D124G possibly damaging Het
Ppp3ca T G 3: 136,503,605 (GRCm39) S59R probably benign Het
Rttn T C 18: 89,033,370 (GRCm39) probably benign Het
Ryr1 A T 7: 28,752,515 (GRCm39) V3598E probably damaging Het
Sc5d G T 9: 42,166,866 (GRCm39) N224K probably damaging Het
Tacc2 G A 7: 130,227,226 (GRCm39) E1323K possibly damaging Het
Tbc1d21 T A 9: 58,270,352 (GRCm39) D141V probably damaging Het
Trp53bp2 T C 1: 182,281,347 (GRCm39) F983L probably damaging Het
Ubxn2a T A 12: 4,941,322 (GRCm39) K95* probably null Het
Ugt3a1 G T 15: 9,365,374 (GRCm39) W329L probably damaging Het
Unk T C 11: 115,940,949 (GRCm39) Y237H probably benign Het
Vcam1 A C 3: 115,918,079 (GRCm39) probably null Het
Xpo6 T C 7: 125,703,893 (GRCm39) N1086D probably damaging Het
Zc3h12c A T 9: 52,055,356 (GRCm39) L132Q possibly damaging Het
Other mutations in Rsu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02411:Rsu1 APN 2 13,082,308 (GRCm39) utr 3 prime probably benign
IGL02494:Rsu1 APN 2 13,222,002 (GRCm39) splice site probably null
R0276: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
Predicted Primers PCR Primer
(F):5'- CTGGTGTTTTAGCAAAGCAGAG -3'
(R):5'- GAAAAGTGCTTTCTCGGGTTTC -3'

Sequencing Primer
(F):5'- GGTGTTTTAGCAAAGCAGAGTTTAC -3'
(R):5'- TTGGCAGCCATTTCTTGAATCAG -3'
Posted On 2015-02-05