Incidental Mutation 'IGL02810:Nms'
ID 360538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nms
Ensembl Gene ENSMUSG00000067604
Gene Name neuromedin S
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL02810
Quality Score
Status
Chromosome 1
Chromosomal Location 38978230-38989357 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38987725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 147 (Y147H)
Ref Sequence ENSEMBL: ENSMUSP00000085346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088029] [ENSMUST00000160214]
AlphaFold Q5H8A1
Predicted Effect possibly damaging
Transcript: ENSMUST00000088029
AA Change: Y147H

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000085346
Gene: ENSMUSG00000067604
AA Change: Y147H

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160214
SMART Domains Protein: ENSMUSP00000125166
Gene: ENSMUSG00000067604

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 96 107 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the neuromedin family of neuropeptides. The encoded protein is a precursor that is proteolytically processed to generate a biologically active neuropeptide that plays a role in the regulation of circadian rhythm, anorexigenic action, antidiuretic action, cardiovascular function and stimulation of oxytocin and vasopressin release. Mice lacking the encoded neuropeptide exhibit decreased heart rate without any accompanying changes in blood pressure. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate the mature peptide. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,249,401 (GRCm39) K1491E probably damaging Het
Abi3bp T C 16: 56,498,138 (GRCm39) S696P probably damaging Het
Ago1 A G 4: 126,336,886 (GRCm39) V273A probably benign Het
Atosb C A 4: 43,034,429 (GRCm39) V389F probably damaging Het
Bbs2 A G 8: 94,813,539 (GRCm39) Y213H probably benign Het
Car10 T A 11: 93,469,522 (GRCm39) Y142N probably damaging Het
Eml6 T C 11: 29,799,016 (GRCm39) K415E possibly damaging Het
Exoc3l A T 8: 106,021,980 (GRCm39) I41N probably damaging Het
Fat3 T C 9: 16,288,146 (GRCm39) D459G probably damaging Het
Gabbr1 T C 17: 37,373,654 (GRCm39) F401L probably damaging Het
Galnt10 G A 11: 57,616,412 (GRCm39) R109Q probably damaging Het
Gpr108 C T 17: 57,549,742 (GRCm39) D265N probably benign Het
Helb T C 10: 119,927,608 (GRCm39) N834S possibly damaging Het
Igkv8-30 A G 6: 70,094,342 (GRCm39) V23A probably benign Het
Iqck A T 7: 118,570,662 (GRCm39) K271N possibly damaging Het
Klhl17 T C 4: 156,318,514 (GRCm39) E36G possibly damaging Het
Klrb1b A G 6: 128,795,430 (GRCm39) probably null Het
Mybl1 G A 1: 9,743,340 (GRCm39) P571S probably damaging Het
Mybl1 T C 1: 9,748,613 (GRCm39) T328A probably benign Het
Nav3 A T 10: 109,652,135 (GRCm39) D873E probably damaging Het
Nrde2 A T 12: 100,110,017 (GRCm39) M338K possibly damaging Het
Oasl2 T A 5: 115,035,852 (GRCm39) F43I probably damaging Het
Oxr1 G A 15: 41,676,979 (GRCm39) V91I probably benign Het
Pcnx2 C T 8: 126,613,942 (GRCm39) C503Y probably benign Het
Polr2m A T 9: 71,390,848 (GRCm39) I14K probably benign Het
Ppara T C 15: 85,661,878 (GRCm39) S40P probably damaging Het
Shisa6 T A 11: 66,115,774 (GRCm39) T288S possibly damaging Het
Slc26a5 T C 5: 22,018,381 (GRCm39) probably benign Het
Spag1 A G 15: 36,234,693 (GRCm39) N818D probably damaging Het
Srcap T C 7: 127,120,835 (GRCm39) probably null Het
Tctn1 C T 5: 122,380,664 (GRCm39) probably null Het
Triobp A G 15: 78,886,403 (GRCm39) N507S possibly damaging Het
Tut7 A G 13: 59,929,830 (GRCm39) probably null Het
Ugt2b34 C A 5: 87,054,383 (GRCm39) V133L probably benign Het
Yju2b A G 8: 84,990,997 (GRCm39) probably benign Het
Other mutations in Nms
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Nms APN 1 38,985,192 (GRCm39) missense possibly damaging 0.92
IGL01959:Nms APN 1 38,981,006 (GRCm39) splice site probably benign
IGL02088:Nms APN 1 38,978,358 (GRCm39) utr 5 prime probably benign
IGL03001:Nms APN 1 38,980,993 (GRCm39) missense probably benign 0.12
alacrity UTSW 1 38,980,976 (GRCm39) missense probably benign 0.04
R1087:Nms UTSW 1 38,983,192 (GRCm39) critical splice donor site probably null
R3689:Nms UTSW 1 38,986,075 (GRCm39) splice site probably benign
R4426:Nms UTSW 1 38,978,377 (GRCm39) missense probably benign
R6910:Nms UTSW 1 38,980,976 (GRCm39) missense probably benign 0.04
R7258:Nms UTSW 1 38,986,051 (GRCm39) missense probably benign 0.01
R8848:Nms UTSW 1 38,978,391 (GRCm39) missense probably benign
R9108:Nms UTSW 1 38,985,147 (GRCm39) missense possibly damaging 0.78
R9493:Nms UTSW 1 38,980,982 (GRCm39) missense probably benign
Posted On 2015-12-18