Incidental Mutation 'IGL01898:Nus1'
ID179460
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 #IGL01898
Quality Score
Status
Chromosome10
Chromosomal Location52417547-52440183 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52430067 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 185 (D185G)
Ref Sequence ENSEMBL: ENSMUSP00000023830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023830]
Predicted Effect probably benign
Transcript: ENSMUST00000023830
AA Change: D185G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023830
Gene: ENSMUSG00000023068
AA Change: D185G

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 probably benign
Transcript: ENSMUST00000161678
AA Change: D33G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124767
Gene: ENSMUSG00000023068
AA Change: D33G

DomainStartEndE-ValueType
SCOP:d1f75a_ 1 91 1e-12 SMART
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl10 A T 2: 154,552,713 D195V probably damaging Het
Aqp11 A G 7: 97,726,663 W260R probably benign Het
Atp8a2 T C 14: 60,023,513 T390A probably damaging Het
Atp8b4 T C 2: 126,389,361 N431S probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Ccdc110 T G 8: 45,942,124 S351A possibly damaging Het
Cntnap4 T C 8: 112,856,307 F1006L possibly damaging Het
Ddr2 A G 1: 169,998,156 F292L possibly damaging Het
F830104G03Rik G A 3: 56,890,216 Q97* probably null Het
Fam171a2 T C 11: 102,439,756 T267A possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Igkv5-45 T A 6: 69,775,892 K69* probably null Het
Mios T C 6: 8,222,668 I534T probably benign Het
Proc A G 18: 32,133,145 probably null Het
Psma3 T A 12: 70,984,674 H36Q probably benign Het
Sh3rf3 G T 10: 59,049,530 A412S probably damaging Het
Smgc A T 15: 91,844,524 probably null Het
Spta1 T A 1: 174,213,862 S1297R probably benign Het
Steap3 T C 1: 120,241,574 D293G probably benign Het
Tbx18 A T 9: 87,707,859 M342K possibly damaging Het
Trip11 T C 12: 101,885,676 M425V probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Nus1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01983:Nus1 APN 10 52436657 missense probably damaging 0.98
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