Incidental Mutation 'IGL01984:Dpcd'
ID 181817
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpcd
Ensembl Gene ENSMUSG00000041035
Gene Name deleted in primary ciliary dyskinesia
Synonyms Ndac, Gm17018, 5330431N19Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.304) question?
Stock # IGL01984
Quality Score
Status
Chromosome 19
Chromosomal Location 45549018-45566728 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45565469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 148 (H148Y)
Ref Sequence ENSEMBL: ENSMUSP00000045683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046869] [ENSMUST00000047057] [ENSMUST00000160003] [ENSMUST00000160018] [ENSMUST00000160438] [ENSMUST00000162879] [ENSMUST00000162433]
AlphaFold Q8BPA8
Predicted Effect probably benign
Transcript: ENSMUST00000046869
SMART Domains Protein: ENSMUSP00000036505
Gene: ENSMUSG00000040913

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
FBOX 29 69 1.47e-2 SMART
WD40 150 187 3.45e-1 SMART
WD40 189 226 2.24e-2 SMART
WD40 232 274 8.91e-1 SMART
WD40 277 318 5.52e0 SMART
WD40 323 363 1.67e-1 SMART
Blast:WD40 366 406 1e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000047057
AA Change: H148Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045683
Gene: ENSMUSG00000041035
AA Change: H148Y

DomainStartEndE-ValueType
Pfam:DPCD 6 195 4.5e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160003
SMART Domains Protein: ENSMUSP00000124604
Gene: ENSMUSG00000040913

DomainStartEndE-ValueType
Blast:WD40 1 36 2e-20 BLAST
SCOP:d1fwxa2 8 62 4e-7 SMART
Blast:WD40 39 79 1e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000160018
SMART Domains Protein: ENSMUSP00000125641
Gene: ENSMUSG00000040913

DomainStartEndE-ValueType
Blast:WD40 1 21 8e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000160438
SMART Domains Protein: ENSMUSP00000125136
Gene: ENSMUSG00000040913

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
WD40 52 93 5.52e0 SMART
WD40 98 138 1.67e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161373
Predicted Effect probably benign
Transcript: ENSMUST00000162879
SMART Domains Protein: ENSMUSP00000124675
Gene: ENSMUSG00000040913

DomainStartEndE-ValueType
Blast:WD40 1 21 4e-7 BLAST
WD40 26 66 1.67e-1 SMART
Blast:WD40 69 102 8e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000162433
SMART Domains Protein: ENSMUSP00000124998
Gene: ENSMUSG00000040913

DomainStartEndE-ValueType
Blast:WD40 1 21 5e-7 BLAST
WD40 26 66 1.67e-1 SMART
Blast:WD40 69 109 3e-12 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene in mouse encodes a protein that may be involved in the generation and maintenance of ciliated cells. In mouse, expression of this gene increases during ciliated cell differentiation, and disruption of this gene has been linked to primary ciliary dyskinesia. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik C T 3: 89,970,537 (GRCm39) L24F probably benign Het
Adamts16 T C 13: 70,935,266 (GRCm39) D442G probably damaging Het
Ankmy1 T C 1: 92,811,487 (GRCm39) T634A probably damaging Het
Anxa3 A T 5: 96,982,630 (GRCm39) probably benign Het
Ccnh T C 13: 85,354,270 (GRCm39) L202P probably damaging Het
Clcn3 A T 8: 61,382,614 (GRCm39) S325T probably damaging Het
Clec2d A T 6: 129,161,192 (GRCm39) E96D possibly damaging Het
Csn1s1 A T 5: 87,824,369 (GRCm39) probably benign Het
Dcun1d5 T A 9: 7,205,307 (GRCm39) Y189N possibly damaging Het
Dnah7a T C 1: 53,741,174 (GRCm39) probably null Het
Efcab3 T A 11: 104,629,134 (GRCm39) D937E probably benign Het
Erg T G 16: 95,210,786 (GRCm39) D15A probably damaging Het
Gm21759 T A 5: 8,230,547 (GRCm39) probably benign Het
Heatr5b C T 17: 79,103,926 (GRCm39) R1083Q possibly damaging Het
Ints3 A G 3: 90,299,533 (GRCm39) S1012P possibly damaging Het
Klhl3 C T 13: 58,159,057 (GRCm39) probably benign Het
Lama4 T A 10: 38,951,525 (GRCm39) probably null Het
Magi1 A T 6: 93,685,155 (GRCm39) V740D probably damaging Het
Nme8 C A 13: 19,873,150 (GRCm39) V165L probably damaging Het
Odf2l G T 3: 144,845,590 (GRCm39) E5* probably null Het
Or14j4 T C 17: 37,934,552 (GRCm39) probably benign Het
Or4k47 A G 2: 111,451,927 (GRCm39) L164S probably benign Het
Or56a5 A T 7: 104,792,923 (GRCm39) D192E probably benign Het
Pcnx4 T C 12: 72,621,183 (GRCm39) V1001A probably benign Het
Plaa A G 4: 94,459,922 (GRCm39) probably null Het
Prkdc G A 16: 15,526,643 (GRCm39) A1305T probably benign Het
Rnps1 T C 17: 24,643,371 (GRCm39) probably benign Het
St8sia5 T C 18: 77,336,157 (GRCm39) F197L probably benign Het
Sult3a1 G T 10: 33,755,205 (GRCm39) G257* probably null Het
Svep1 A C 4: 58,068,877 (GRCm39) Y2970D possibly damaging Het
Tns3 G T 11: 8,498,992 (GRCm39) Y30* probably null Het
Ubr1 G T 2: 120,751,867 (GRCm39) P791T probably damaging Het
Zfp592 T C 7: 80,688,392 (GRCm39) V1039A probably benign Het
Other mutations in Dpcd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02352:Dpcd APN 19 45,565,493 (GRCm39) missense probably benign 0.01
IGL02359:Dpcd APN 19 45,565,493 (GRCm39) missense probably benign 0.01
R0308:Dpcd UTSW 19 45,565,445 (GRCm39) missense probably damaging 0.99
R6195:Dpcd UTSW 19 45,565,458 (GRCm39) missense probably damaging 1.00
R7254:Dpcd UTSW 19 45,565,473 (GRCm39) missense probably benign 0.03
R7348:Dpcd UTSW 19 45,560,905 (GRCm39) missense probably damaging 1.00
R9299:Dpcd UTSW 19 45,566,009 (GRCm39) missense probably damaging 1.00
R9612:Dpcd UTSW 19 45,560,422 (GRCm39) nonsense probably null
R9745:Dpcd UTSW 19 45,560,881 (GRCm39) missense probably benign 0.45
Posted On 2014-05-07