Incidental Mutation 'IGL00516:Hras'
ID5095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hras
Ensembl Gene ENSMUSG00000025499
Gene NameHarvey rat sarcoma virus oncogene
Synonymsras, c-rasHa, Harvey-ras, Ha-ras, Hras-1, H-ras, c-H-ras, Hras1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00516
Quality Score
Status
Chromosome7
Chromosomal Location141189105-141194005 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 141192870 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 24 (I24T)
Ref Sequence ENSEMBL: ENSMUSP00000132110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026572] [ENSMUST00000047093] [ENSMUST00000070458] [ENSMUST00000084446] [ENSMUST00000097957] [ENSMUST00000124314] [ENSMUST00000124971] [ENSMUST00000144008] [ENSMUST00000168550] [ENSMUST00000209220]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026572
AA Change: I24T

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026572
Gene: ENSMUSG00000025499
AA Change: I24T

DomainStartEndE-ValueType
RAS 1 166 1.12e-122 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000047093
SMART Domains Protein: ENSMUSP00000048691
Gene: ENSMUSG00000038637

DomainStartEndE-ValueType
low complexity region 59 71 N/A INTRINSIC
Pfam:LRR_4 138 177 9.1e-8 PFAM
LRRcap 212 230 4.44e-1 SMART
low complexity region 294 310 N/A INTRINSIC
low complexity region 390 404 N/A INTRINSIC
low complexity region 449 458 N/A INTRINSIC
low complexity region 474 496 N/A INTRINSIC
low complexity region 523 536 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000070458
SMART Domains Protein: ENSMUSP00000063912
Gene: ENSMUSG00000038637

DomainStartEndE-ValueType
low complexity region 59 71 N/A INTRINSIC
Pfam:LRR_7 116 132 4e-2 PFAM
Pfam:LRR_8 116 171 8.7e-8 PFAM
Pfam:LRR_4 117 158 7.2e-11 PFAM
Pfam:LRR_1 139 159 2.9e-2 PFAM
LRRcap 212 230 4.44e-1 SMART
low complexity region 294 310 N/A INTRINSIC
low complexity region 390 404 N/A INTRINSIC
low complexity region 449 458 N/A INTRINSIC
low complexity region 474 496 N/A INTRINSIC
low complexity region 523 536 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000084446
SMART Domains Protein: ENSMUSP00000081486
Gene: ENSMUSG00000038637

DomainStartEndE-ValueType
low complexity region 59 71 N/A INTRINSIC
Pfam:LRR_7 116 132 3.5e-2 PFAM
Pfam:LRR_8 116 171 6.9e-8 PFAM
Pfam:LRR_4 117 158 6.7e-11 PFAM
Pfam:LRR_6 136 160 5.9e-2 PFAM
Pfam:LRR_1 139 159 2.6e-2 PFAM
Pfam:LRR_6 157 182 4.1e-2 PFAM
Pfam:LRR_1 161 199 5.9e-2 PFAM
LRRcap 212 230 4.44e-1 SMART
low complexity region 294 310 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000097957
AA Change: I24T

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095570
Gene: ENSMUSG00000025499
AA Change: I24T

DomainStartEndE-ValueType
RAS 1 166 1.12e-122 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000124314
AA Change: I24T

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000124971
AA Change: I24T

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138189
Gene: ENSMUSG00000025499
AA Change: I24T

DomainStartEndE-ValueType
RAS 1 108 4.18e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128993
Predicted Effect probably benign
Transcript: ENSMUST00000134008
Predicted Effect probably benign
Transcript: ENSMUST00000144008
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150141
Predicted Effect possibly damaging
Transcript: ENSMUST00000168550
AA Change: I24T

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132110
Gene: ENSMUSG00000025499
AA Change: I24T

DomainStartEndE-ValueType
RAS 1 158 4.97e-106 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209220
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 belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, mental retardation, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted null mutations are viable and fertile with no gross morphological or histological abnormalities, defects in neuronal development or defects in lymphocyte cell populations. A decreased susceptibility to DMBA induced skin papillomas was also demonstrated. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik T C 11: 80,376,812 D91G possibly damaging Het
Abcc1 T A 16: 14,413,312 L438* probably null Het
Asph A T 4: 9,639,322 N14K probably damaging Het
Baz1b T C 5: 135,216,590 Y298H probably damaging Het
Ccdc66 A T 14: 27,498,456 W267R probably damaging Het
Cd81 A C 7: 143,067,164 K193N probably damaging Het
Cdkn1a C A 17: 29,098,520 A38E possibly damaging Het
Cflar T C 1: 58,732,310 I199T probably benign Het
Cmya5 A G 13: 93,098,167 S138P possibly damaging Het
Cnot1 T C 8: 95,726,079 N2123S probably damaging Het
Crybg3 A G 16: 59,530,440 S846P probably benign Het
Cyp2d9 A G 15: 82,455,094 I21M probably benign Het
Ddx41 T C 13: 55,532,467 T371A probably damaging Het
Dnhd1 A T 7: 105,657,211 I425F possibly damaging Het
Dsc1 T C 18: 20,101,886 D237G probably damaging Het
Emc1 T C 4: 139,355,082 probably benign Het
Epc1 T A 18: 6,450,515 D367V probably damaging Het
Glp1r A G 17: 30,925,558 Y235C probably damaging Het
Helb A G 10: 120,105,424 V453A probably damaging Het
Hsf2 A T 10: 57,512,028 I423L probably benign Het
Igkv2-109 T A 6: 68,303,070 S92T probably benign Het
Kiss1r G A 10: 79,918,716 A15T possibly damaging Het
Krt79 T C 15: 101,940,166 S17G probably damaging Het
Lrrc14b T C 13: 74,360,959 D443G probably damaging Het
Map4k4 T A 1: 40,014,602 V953E probably damaging Het
Mybpc2 G A 7: 44,505,405 probably benign Het
Nadsyn1 T C 7: 143,812,793 E173G probably damaging Het
Neurl4 C T 11: 69,910,393 R1199W probably damaging Het
Otog T A 7: 46,251,282 V333E probably damaging Het
Pdcd2l A T 7: 34,184,821 probably null Het
Plagl1 A G 10: 13,127,872 probably benign Het
Rbm34 T C 8: 126,969,986 N122S probably benign Het
Shank2 A G 7: 144,410,775 K917E possibly damaging Het
Slc17a8 T C 10: 89,591,295 K315E possibly damaging Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Sytl2 A G 7: 90,372,905 T183A probably benign Het
Tnik T A 3: 28,654,218 I1067N probably damaging Het
Tpd52l2 A G 2: 181,513,068 D192G probably damaging Het
Trhde A T 10: 114,446,199 I791N probably benign Het
Ttc28 A T 5: 111,225,688 N966Y probably damaging Het
Vps13b A T 15: 35,640,557 D1356V probably damaging Het
Zmym2 A G 14: 56,947,937 probably benign Het
Other mutations in Hras
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5330:Hras UTSW 7 141192940 start codon destroyed probably null 0.91
R5331:Hras UTSW 7 141192940 start codon destroyed probably null 0.91
R5453:Hras UTSW 7 141192855 missense probably damaging 1.00
R5924:Hras UTSW 7 141192461 missense possibly damaging 0.86
R7651:Hras UTSW 7 141192151 missense possibly damaging 0.66
Posted On2012-04-20