Incidental Mutation 'IGL00977:Dhdds'
ID 27343
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhdds
Ensembl Gene ENSMUSG00000012117
Gene Name dehydrodolichyl diphosphate synthase
Synonyms 3222401G21Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00977
Quality Score
Status
Chromosome 4
Chromosomal Location 133696339-133728229 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 133727571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012262] [ENSMUST00000051674] [ENSMUST00000105885] [ENSMUST00000105886] [ENSMUST00000105887] [ENSMUST00000105889] [ENSMUST00000144668]
AlphaFold Q99KU1
Predicted Effect probably benign
Transcript: ENSMUST00000012262
SMART Domains Protein: ENSMUSP00000012262
Gene: ENSMUSG00000012117

DomainStartEndE-ValueType
Pfam:Prenyltransf 32 256 1.5e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000051674
SMART Domains Protein: ENSMUSP00000050488
Gene: ENSMUSG00000050966

DomainStartEndE-ValueType
low complexity region 14 35 N/A INTRINSIC
CSP 41 112 5.63e-14 SMART
ZnF_C2HC 138 154 1.91e-2 SMART
ZnF_C2HC 160 176 4.92e-1 SMART
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 benign
Transcript: ENSMUST00000105886
SMART Domains Protein: ENSMUSP00000101510
Gene: ENSMUSG00000012117

DomainStartEndE-ValueType
Pfam:Prenyltransf 32 109 9.8e-32 PFAM
Pfam:Prenyltransf 104 217 6.2e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105887
SMART Domains Protein: ENSMUSP00000101511
Gene: ENSMUSG00000012117

DomainStartEndE-ValueType
Pfam:Prenyltransf 32 255 6.4e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105889
SMART Domains Protein: ENSMUSP00000101512
Gene: ENSMUSG00000012117

DomainStartEndE-ValueType
Pfam:Prenyltransf 32 256 5.6e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142660
Predicted Effect probably benign
Transcript: ENSMUST00000144668
SMART Domains Protein: ENSMUSP00000116098
Gene: ENSMUSG00000012117

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
Abca13 T A 11: 9,349,284 (GRCm39) F3619L probably damaging Het
Asic5 T A 3: 81,911,953 (GRCm39) V183E possibly damaging Het
Atp2b1 T C 10: 98,822,837 (GRCm39) V164A possibly damaging Het
Bend3 A G 10: 43,386,945 (GRCm39) Q446R possibly damaging Het
Ccdc80 C A 16: 44,916,627 (GRCm39) T461K probably benign Het
Cep350 T A 1: 155,808,611 (GRCm39) E655V probably null Het
Chi3l1 T C 1: 134,115,711 (GRCm39) F232L possibly damaging Het
Degs1 T A 1: 182,106,774 (GRCm39) I162F probably benign Het
Herc4 A T 10: 63,147,346 (GRCm39) Y821F probably damaging Het
Hpf1 A G 8: 61,358,753 (GRCm39) H303R probably benign Het
Kcnk10 A T 12: 98,484,792 (GRCm39) C115S probably damaging Het
Map3k13 T C 16: 21,740,514 (GRCm39) S614P probably benign Het
Me2 A T 18: 73,924,248 (GRCm39) N321K probably benign Het
Med16 A T 10: 79,743,459 (GRCm39) M1K probably null Het
Mycbp2 A G 14: 103,410,078 (GRCm39) F2651L probably damaging Het
Prrc2b C T 2: 32,103,822 (GRCm39) T1100I probably benign Het
Scn9a T A 2: 66,314,645 (GRCm39) Q1680L probably damaging Het
Sh3rf2 A G 18: 42,244,283 (GRCm39) T250A probably benign Het
Sting1 C T 18: 35,867,620 (GRCm39) E359K probably damaging Het
Tpp2 T C 1: 44,022,451 (GRCm39) F950L possibly damaging Het
Vmn2r129 C A 4: 156,686,491 (GRCm39) noncoding transcript Het
Other mutations in Dhdds
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01566:Dhdds APN 4 133,718,648 (GRCm39) missense probably damaging 0.99
IGL03024:Dhdds APN 4 133,710,160 (GRCm39) missense probably damaging 1.00
IGL03115:Dhdds APN 4 133,710,182 (GRCm39) missense probably benign
LCD18:Dhdds UTSW 4 133,697,674 (GRCm39) utr 3 prime probably benign
R0622:Dhdds UTSW 4 133,721,547 (GRCm39) missense probably damaging 1.00
R2036:Dhdds UTSW 4 133,698,410 (GRCm39) missense probably damaging 1.00
R5284:Dhdds UTSW 4 133,707,523 (GRCm39) missense probably benign 0.06
R5444:Dhdds UTSW 4 133,698,447 (GRCm39) nonsense probably null
R5780:Dhdds UTSW 4 133,724,141 (GRCm39) missense probably damaging 1.00
R5781:Dhdds UTSW 4 133,724,141 (GRCm39) missense probably damaging 1.00
R6723:Dhdds UTSW 4 133,721,576 (GRCm39) missense probably damaging 1.00
R7362:Dhdds UTSW 4 133,698,441 (GRCm39) missense probably benign 0.04
R7496:Dhdds UTSW 4 133,698,565 (GRCm39) missense possibly damaging 0.96
R7696:Dhdds UTSW 4 133,724,225 (GRCm39) missense probably damaging 1.00
R8037:Dhdds UTSW 4 133,724,158 (GRCm39) missense probably benign 0.00
R8187:Dhdds UTSW 4 133,727,679 (GRCm39) start gained probably benign
R8951:Dhdds UTSW 4 133,719,857 (GRCm39) missense possibly damaging 0.60
R9502:Dhdds UTSW 4 133,707,497 (GRCm39) missense probably damaging 1.00
R9758:Dhdds UTSW 4 133,727,706 (GRCm39) critical splice acceptor site probably null
Posted On 2013-04-17