Incidental Mutation 'IGL02195:Nus1'
ID284019
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 #IGL02195
Quality Score
Status
Chromosome10
Chromosomal Location52417547-52440183 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52433369 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 91 (D91G)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023830]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023830
AA Change: D243G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023830
Gene: ENSMUSG00000023068
AA Change: D243G

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 damaging
Transcript: ENSMUST00000161678
AA Change: D91G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124767
Gene: ENSMUSG00000023068
AA Change: D91G

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410131K14Rik T C 5: 118,259,397 L148P probably damaging Het
Anpep G T 7: 79,826,685 A65D probably damaging Het
Birc6 C T 17: 74,697,381 probably benign Het
Car11 G T 7: 45,701,292 V71L probably damaging Het
Cecr2 A G 6: 120,731,406 Y123C probably damaging Het
Dnm2 G A 9: 21,425,249 V52M probably damaging Het
Fbxo21 T A 5: 118,002,154 C560S probably damaging Het
Gatb A T 3: 85,604,448 Y170F probably benign Het
Ighv1-54 A T 12: 115,193,950 S26T possibly damaging Het
Ints8 A T 4: 11,221,222 W718R probably damaging Het
Iqgap2 T A 13: 95,661,734 probably benign Het
Kif4 T C X: 100,726,216 F1154S probably damaging Het
Klhl18 A G 9: 110,438,902 C253R possibly damaging Het
Lilra6 T C 7: 3,914,550 S149G probably benign Het
Lonrf1 G A 8: 36,219,948 R745* probably null Het
Manea A C 4: 26,340,628 Y111* probably null Het
Map2k1 A G 9: 64,193,808 I196T probably benign Het
Matn4 T C 2: 164,401,052 D42G probably damaging Het
Meioc C A 11: 102,674,857 T433K possibly damaging Het
Mtmr7 A G 8: 40,560,905 V204A probably damaging Het
Olfr160 A G 9: 37,712,121 S53P probably benign Het
Pisd A G 5: 32,737,315 L549P probably damaging Het
Plcg1 T C 2: 160,753,926 Y572H possibly damaging Het
Prdm15 A G 16: 97,835,829 V96A probably damaging Het
Prune2 C A 19: 17,119,557 D808E probably benign Het
Sema5b G A 16: 35,660,479 probably null Het
Shank3 A T 15: 89,548,118 Q947L probably damaging Het
Sned1 A G 1: 93,274,160 E616G probably benign Het
Snx18 T C 13: 113,616,840 H519R probably damaging Het
Syde2 A G 3: 146,002,156 T617A probably damaging Het
Tmem139 G T 6: 42,263,967 R162L probably damaging Het
Trim72 A T 7: 128,007,964 M222L probably damaging Het
Other mutations in Nus1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01898:Nus1 APN 10 52430067 missense probably benign
IGL01983:Nus1 APN 10 52436657 missense probably damaging 0.98
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 On2015-04-16