Incidental Mutation 'IGL01566:Dhdds'
ID90980
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhdds
Ensembl Gene ENSMUSG00000012117
Gene Namedehydrodolichyl diphosphate synthase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01566
Quality Score
Status
Chromosome4
Chromosomal Location133969028-134000918 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 133991337 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 162 (I162V)
Ref Sequence ENSEMBL: ENSMUSP00000116098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012262] [ENSMUST00000105885] [ENSMUST00000105886] [ENSMUST00000105887] [ENSMUST00000105889] [ENSMUST00000130464] [ENSMUST00000144668]
Predicted Effect probably damaging
Transcript: ENSMUST00000012262
AA Change: I162V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000012262
Gene: ENSMUSG00000012117
AA Change: I162V

DomainStartEndE-ValueType
Pfam:Prenyltransf 32 256 1.5e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105885
SMART Domains Protein: ENSMUSP00000101509
Gene: ENSMUSG00000012117

DomainStartEndE-ValueType
Pfam:Prenyltransf 32 149 5.2e-42 PFAM
Pfam:Prenyltransf 145 222 1.4e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105886
AA Change: I123V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101510
Gene: ENSMUSG00000012117
AA Change: I123V

DomainStartEndE-ValueType
Pfam:Prenyltransf 32 109 9.8e-32 PFAM
Pfam:Prenyltransf 104 217 6.2e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105887
AA Change: I162V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101511
Gene: ENSMUSG00000012117
AA Change: I162V

DomainStartEndE-ValueType
Pfam:Prenyltransf 32 255 6.4e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105889
AA Change: I162V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101512
Gene: ENSMUSG00000012117
AA Change: I162V

DomainStartEndE-ValueType
Pfam:Prenyltransf 32 256 5.6e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130464
SMART Domains Protein: ENSMUSP00000121656
Gene: ENSMUSG00000012117

DomainStartEndE-ValueType
Pfam:Prenyltransf 1 54 1.8e-8 PFAM
Pfam:Prenyltransf 50 99 2.6e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142660
Predicted Effect probably damaging
Transcript: ENSMUST00000144668
AA Change: I162V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116098
Gene: ENSMUSG00000012117
AA Change: I162V

DomainStartEndE-ValueType
Pfam:Prenyltransf 32 256 1.5e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146241
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150729
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931417E11Rik G A 6: 73,468,690 T292I probably damaging Het
AB124611 T C 9: 21,535,989 V149A possibly damaging Het
Casc3 T C 11: 98,823,401 probably null Het
Dsg1a T C 18: 20,336,783 probably benign Het
E030025P04Rik T A 11: 109,143,888 D58V unknown Het
Gcn1l1 A G 5: 115,611,058 N1883S probably damaging Het
Gucy1a2 T C 9: 3,634,661 L235P probably damaging Het
Kprp T C 3: 92,823,964 N593S probably benign Het
Mme T C 3: 63,361,929 probably benign Het
Nr6a1 G T 2: 38,727,889 Q419K probably benign Het
Pcolce A G 5: 137,605,160 probably benign Het
Ppp2cb C A 8: 33,611,763 R110S probably benign Het
Slc35f1 A G 10: 53,089,455 Y322C probably damaging Het
Slc5a3 T C 16: 92,077,577 V174A probably damaging Het
St8sia4 G T 1: 95,653,757 R87S probably benign Het
Tfdp2 A G 9: 96,295,030 E5G probably damaging Het
Tmem161b T C 13: 84,294,762 I267T probably benign Het
Ttn A G 2: 76,952,021 L957P probably damaging Het
Ttn A G 2: 76,782,101 probably benign Het
Ubqln1 A T 13: 58,179,667 probably null Het
Wdfy3 A C 5: 101,896,588 probably benign Het
Other mutations in Dhdds
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Dhdds APN 4 134000260 splice site probably benign
IGL03024:Dhdds APN 4 133982849 missense probably damaging 1.00
IGL03115:Dhdds APN 4 133982871 missense probably benign
LCD18:Dhdds UTSW 4 133970363 utr 3 prime probably benign
R0622:Dhdds UTSW 4 133994236 missense probably damaging 1.00
R2036:Dhdds UTSW 4 133971099 missense probably damaging 1.00
R5284:Dhdds UTSW 4 133980212 missense probably benign 0.06
R5444:Dhdds UTSW 4 133971136 nonsense probably null
R5780:Dhdds UTSW 4 133996830 missense probably damaging 1.00
R5781:Dhdds UTSW 4 133996830 missense probably damaging 1.00
R6723:Dhdds UTSW 4 133994265 missense probably damaging 1.00
R7362:Dhdds UTSW 4 133971130 missense probably benign 0.04
R7496:Dhdds UTSW 4 133971254 missense possibly damaging 0.96
R7696:Dhdds UTSW 4 133996914 missense probably damaging 1.00
R8037:Dhdds UTSW 4 133996847 missense probably benign 0.00
R8187:Dhdds UTSW 4 134000368 start gained probably benign
Posted On2013-12-09