Incidental Mutation 'IGL02811:Dcbld1'
ID360569
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dcbld1
Ensembl Gene ENSMUSG00000019891
Gene Namediscoidin, CUB and LCCL domain containing 1
Synonyms4631413K11Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02811
Quality Score
Status
Chromosome10
Chromosomal Location52233619-52321378 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52319973 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 426 (T426A)
Ref Sequence ENSEMBL: ENSMUSP00000151265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069004] [ENSMUST00000218582]
Predicted Effect probably benign
Transcript: ENSMUST00000069004
AA Change: T497A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068203
Gene: ENSMUSG00000019891
AA Change: T497A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
CUB 32 141 6.42e-23 SMART
Pfam:LCCL 147 239 4.5e-19 PFAM
transmembrane domain 248 270 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000101116
Gene: ENSMUSG00000019891
AA Change: T426A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
SCOP:d1sfp__ 28 69 3e-6 SMART
Pfam:LCCL 76 168 3.6e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218582
AA Change: T426A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 C T 13: 4,512,683 R90H possibly damaging Het
BC048679 A T 7: 81,495,189 probably benign Het
Chd6 T C 2: 160,990,301 R984G probably damaging Het
Cobl A G 11: 12,253,285 I1139T possibly damaging Het
Coq3 A G 4: 21,900,273 R167G probably damaging Het
Crim1 A G 17: 78,350,701 K670E possibly damaging Het
Crtac1 T C 19: 42,333,911 E130G probably damaging Het
Dimt1 T C 13: 106,947,667 probably benign Het
Dnal1 G A 12: 84,131,392 probably null Het
Fes T C 7: 80,379,841 Y631C probably damaging Het
Hemk1 A T 9: 107,331,551 V149E probably benign Het
Itga6 T C 2: 71,826,732 V397A probably damaging Het
Kmt2c A T 5: 25,315,028 L2028* probably null Het
Krt33b C A 11: 100,029,569 C86F probably benign Het
Lmx1a A G 1: 167,791,374 I101V probably benign Het
Mlh1 A G 9: 111,271,514 V4A probably benign Het
Mroh2b A G 15: 4,915,236 I440V possibly damaging Het
Mrpl35 A G 6: 71,818,820 Y28H probably benign Het
Oas3 C A 5: 120,764,322 E636D unknown Het
Olfm4 T A 14: 80,021,673 S454T probably damaging Het
Olfr597 T C 7: 103,320,933 I174T probably benign Het
Olfr724 T A 14: 49,960,133 probably benign Het
Otoa G T 7: 121,118,655 G365V possibly damaging Het
Pdgfrl G T 8: 40,976,968 R124L probably damaging Het
Rcbtb2 T A 14: 73,174,411 V380E probably damaging Het
Rufy2 A G 10: 63,000,327 D345G probably damaging Het
Shq1 A T 6: 100,630,984 I322N probably damaging Het
Skint4 C A 4: 112,087,003 T4K possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tbc1d5 A G 17: 50,800,121 I469T probably damaging Het
Thoc3 T C 13: 54,460,175 R319G probably benign Het
Tmem63a A G 1: 180,965,783 I507M probably damaging Het
Usp40 A T 1: 87,995,736 I271N probably damaging Het
Vps13d T C 4: 145,131,765 D2157G possibly damaging Het
Vwa8 T A 14: 78,994,459 V586D probably benign Het
Other mutations in Dcbld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Dcbld1 APN 10 52312849 missense probably benign
IGL01974:Dcbld1 APN 10 52304681 missense probably benign 0.00
IGL01997:Dcbld1 APN 10 52317110 missense probably damaging 0.98
IGL03011:Dcbld1 APN 10 52284148 missense probably damaging 0.98
IGL03329:Dcbld1 APN 10 52319625 missense probably damaging 0.99
IGL03048:Dcbld1 UTSW 10 52304626 missense probably damaging 1.00
R0392:Dcbld1 UTSW 10 52317134 missense possibly damaging 0.92
R0532:Dcbld1 UTSW 10 52317077 missense probably benign 0.06
R0561:Dcbld1 UTSW 10 52261936 missense probably benign 0.02
R0625:Dcbld1 UTSW 10 52312850 missense probably benign 0.38
R0907:Dcbld1 UTSW 10 52261814 missense possibly damaging 0.83
R1567:Dcbld1 UTSW 10 52319656 missense probably damaging 1.00
R1791:Dcbld1 UTSW 10 52319476 missense probably damaging 0.99
R1915:Dcbld1 UTSW 10 52317035 missense probably damaging 0.98
R1921:Dcbld1 UTSW 10 52319651 missense possibly damaging 0.94
R2119:Dcbld1 UTSW 10 52319979 missense probably benign
R2163:Dcbld1 UTSW 10 52286356 missense probably damaging 1.00
R2520:Dcbld1 UTSW 10 52319545 missense probably damaging 0.99
R3196:Dcbld1 UTSW 10 52319491 missense probably damaging 0.99
R3788:Dcbld1 UTSW 10 52319658 missense probably damaging 1.00
R4797:Dcbld1 UTSW 10 52284127 missense probably damaging 0.99
R4904:Dcbld1 UTSW 10 52319970 nonsense probably null
R5177:Dcbld1 UTSW 10 52304634 missense probably damaging 1.00
R5329:Dcbld1 UTSW 10 52284257 intron probably benign
R5456:Dcbld1 UTSW 10 52314390 missense probably damaging 1.00
R6151:Dcbld1 UTSW 10 52304660 missense probably damaging 1.00
R6267:Dcbld1 UTSW 10 52319480 nonsense probably null
R6421:Dcbld1 UTSW 10 52286354 missense probably damaging 1.00
R7031:Dcbld1 UTSW 10 52290889 missense probably damaging 1.00
R7738:Dcbld1 UTSW 10 52312826 missense possibly damaging 0.71
Posted On2015-12-18