Incidental Mutation 'IGL01983:Nus1'
ID183517
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nus1
Ensembl Gene ENSMUSG00000023068
Gene NameNUS1 dehydrodolichyl diphosphate synthase subunit
Synonyms1600027K07Rik, D10Ertd438e, NgBR
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01983
Quality Score
Status
Chromosome10
Chromosomal Location52417547-52440183 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 52436657 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 295 (L295Q)
Ref Sequence ENSEMBL: ENSMUSP00000023830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023830]
Predicted Effect probably damaging
Transcript: ENSMUST00000023830
AA Change: L295Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023830
Gene: ENSMUSG00000023068
AA Change: L295Q

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
low complexity region 63 88 N/A INTRINSIC
Pfam:Prenyltransf 105 296 2.7e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218983
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele die prior to E6.5. MEFs homozygous for a conditionally activated knock-out allele exhibit impaired glycosylation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl G A 1: 66,841,624 Q328* probably null Het
Alpk2 T C 18: 65,350,682 Y85C probably damaging Het
Arhgap31 C T 16: 38,601,765 R1313Q probably damaging Het
Chrnb1 G T 11: 69,795,729 R22S probably benign Het
Clec7a G A 6: 129,465,576 probably benign Het
Epb41l5 A G 1: 119,579,084 probably benign Het
Fam49b A G 15: 63,937,387 S251P probably benign Het
Gm10093 T A 17: 78,492,853 D424E probably benign Het
Hydin A C 8: 110,514,895 I2106L probably benign Het
Igkv3-5 T A 6: 70,663,686 D50E probably benign Het
Irf2bp1 G T 7: 19,005,295 A287S possibly damaging Het
Ldb3 G A 14: 34,577,199 S156L probably benign Het
Lnpep A T 17: 17,531,178 W942R probably damaging Het
Mst1r T A 9: 107,917,276 V1218D probably damaging Het
Naxd G T 8: 11,510,218 probably benign Het
Nol9 T C 4: 152,046,037 probably null Het
Nxph2 A G 2: 23,399,934 I99M probably benign Het
Plekhg1 T A 10: 3,945,904 I432N probably damaging Het
Pon3 A G 6: 5,240,974 L69S probably damaging Het
Pram1 C A 17: 33,640,861 A134D probably damaging Het
Serpinb6c T A 13: 33,897,334 probably benign Het
Stk10 A T 11: 32,589,460 E280V probably benign Het
Tbc1d10c T A 19: 4,190,709 Q34L possibly damaging Het
Tnr G A 1: 159,863,779 V500I probably benign Het
Trim66 G A 7: 109,458,251 R992* probably null Het
Unc45b A G 11: 82,936,861 D728G probably benign Het
Usp13 A G 3: 32,917,459 D696G probably damaging Het
Utrn C T 10: 12,669,781 V1707I probably benign Het
Vmn2r96 A T 17: 18,597,265 H368L probably damaging Het
Xrn1 T C 9: 95,973,368 probably null Het
Zfhx3 C A 8: 108,947,234 L1639M probably damaging Het
Znfx1 A T 2: 167,056,350 V218E probably damaging Het
Other mutations in Nus1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01898:Nus1 APN 10 52430067 missense probably benign
IGL02195:Nus1 APN 10 52433369 missense probably damaging 1.00
R0173:Nus1 UTSW 10 52417998 missense possibly damaging 0.53
R0455:Nus1 UTSW 10 52430094 missense probably damaging 1.00
R5377:Nus1 UTSW 10 52429213 missense possibly damaging 0.73
R5792:Nus1 UTSW 10 52429256 nonsense probably null
R6009:Nus1 UTSW 10 52433443 missense probably benign
R8147:Nus1 UTSW 10 52429320 critical splice donor site probably null
Posted On2014-05-07