Incidental Mutation 'IGL01321:Dpcr1'
ID74051
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpcr1
Ensembl Gene ENSMUSG00000073408
Gene Namediffuse panbronchiolitis critical region 1 (human)
SynonymsLOC268949
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL01321
Quality Score
Status
Chromosome17
Chromosomal Location35635752-35643695 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 35636866 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 490 (N490K)
Ref Sequence ENSEMBL: ENSMUSP00000093120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095467] [ENSMUST00000174521]
Predicted Effect probably damaging
Transcript: ENSMUST00000095467
AA Change: N490K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093120
Gene: ENSMUSG00000073408
AA Change: N490K

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
transmembrane domain 428 450 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174521
SMART Domains Protein: ENSMUSP00000134221
Gene: ENSMUSG00000090509

DomainStartEndE-ValueType
Pfam:SFTA2 80 117 9.2e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174534
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009B22Rik A T 11: 51,685,843 V76D probably damaging Het
Acnat2 A G 4: 49,380,269 S370P probably damaging Het
Adamts5 T C 16: 85,899,475 R265G probably benign Het
Cd2ap T C 17: 42,845,389 S86G possibly damaging Het
Cers3 A C 7: 66,786,003 probably benign Het
Dnaaf2 G T 12: 69,196,602 P562T probably damaging Het
Dnajc21 A C 15: 10,447,102 V520G probably benign Het
Dync1h1 A G 12: 110,625,607 probably benign Het
Extl3 T C 14: 65,066,762 N733D probably benign Het
Gm5499 T A 17: 87,078,500 noncoding transcript Het
Gstm6 T C 3: 107,941,063 Q180R probably benign Het
Hdlbp G A 1: 93,423,802 R460W probably damaging Het
Ift81 T C 5: 122,610,968 D40G probably damaging Het
Igsf3 T A 3: 101,427,022 probably benign Het
Kcnb2 A G 1: 15,312,923 T158A probably benign Het
Lrrc59 C T 11: 94,638,600 R167* probably null Het
Macf1 A G 4: 123,440,774 C4397R probably damaging Het
Morc1 T C 16: 48,582,462 S583P probably benign Het
Nipsnap2 T A 5: 129,757,141 *282R probably null Het
Olfr1160 A T 2: 88,006,245 C178S probably damaging Het
Olfr703 T C 7: 106,844,749 L46P probably damaging Het
Parp14 T A 16: 35,856,559 Q1013L probably benign Het
Pdzd8 A C 19: 59,301,529 S480A probably benign Het
Piezo1 A T 8: 122,487,600 S1609R probably damaging Het
Pkp4 G A 2: 59,350,627 probably null Het
Plpp2 A T 10: 79,527,493 V106D probably damaging Het
Rimbp2 T C 5: 128,786,752 Y724C probably benign Het
Rpgrip1l A T 8: 91,260,873 L852* probably null Het
Samd9l T A 6: 3,376,259 D334V probably benign Het
Sipa1l2 G A 8: 125,491,518 T360M probably damaging Het
Slc30a2 A T 4: 134,343,300 D5V probably damaging Het
Spata31 T C 13: 64,921,754 I572T probably benign Het
Tma16 G A 8: 66,476,860 L161F probably benign Het
Trim69 A T 2: 122,173,284 E238V possibly damaging Het
Zfhx4 A G 3: 5,242,328 T205A probably benign Het
Other mutations in Dpcr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Dpcr1 APN 17 35638102 missense possibly damaging 0.46
IGL01805:Dpcr1 APN 17 35637643 missense possibly damaging 0.62
IGL02320:Dpcr1 APN 17 35637440 missense probably benign 0.00
R1869:Dpcr1 UTSW 17 35638413 missense possibly damaging 0.82
R4570:Dpcr1 UTSW 17 35637991 missense possibly damaging 0.66
R4858:Dpcr1 UTSW 17 35637576 missense possibly damaging 0.74
R5592:Dpcr1 UTSW 17 35643643 missense probably damaging 0.99
R5733:Dpcr1 UTSW 17 35638210 missense probably benign 0.00
Posted On2013-10-07