Incidental Mutation 'IGL03011:Dcbld1'
ID407774
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 #IGL03011
Quality Score
Status
Chromosome10
Chromosomal Location52233619-52321378 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52284148 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 44 (N44S)
Ref Sequence ENSEMBL: ENSMUSP00000151265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069004] [ENSMUST00000218582]
Predicted Effect probably benign
Transcript: ENSMUST00000069004
AA Change: N115S

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000068203
Gene: ENSMUSG00000019891
AA Change: N115S

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: N44S

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 noncoding transcript
Transcript: ENSMUST00000140921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218278
Predicted Effect probably damaging
Transcript: ENSMUST00000218582
AA Change: N44S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik T A 19: 23,652,653 D25V unknown Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Apob C A 12: 7,997,883 P941Q probably damaging Het
Armc9 T A 1: 86,199,916 probably null Het
Arpc5l T C 2: 39,013,718 probably benign Het
Atg2b C A 12: 105,626,362 D1745Y probably damaging Het
Atp9a A G 2: 168,652,632 V651A probably damaging Het
Ccnyl1 T C 1: 64,708,472 I148T possibly damaging Het
Chrna6 A T 8: 27,413,654 W17R possibly damaging Het
Cpne1 G A 2: 156,077,997 H244Y probably damaging Het
Cpxm2 A G 7: 132,049,078 Y618H possibly damaging Het
Csf1r T C 18: 61,110,401 I163T probably benign Het
Ctdsp1 T C 1: 74,395,447 probably benign Het
Ctsb T A 14: 63,133,357 I6N probably benign Het
D430042O09Rik T C 7: 125,852,002 C1102R probably benign Het
Dnah11 C T 12: 118,012,377 C2769Y probably benign Het
Efemp2 C A 19: 5,480,065 Q187K probably damaging Het
Elavl3 A T 9: 22,036,316 I109N probably damaging Het
Elovl5 G T 9: 77,982,784 K292N probably benign Het
Epb41 G T 4: 132,003,794 P1T probably damaging Het
Gm13084 A C 4: 143,811,760 F214V possibly damaging Het
Gm44865 G T 7: 108,565,800 probably benign Het
Gnat2 C A 3: 108,100,052 T262K probably damaging Het
Kmt2e A T 5: 23,497,542 I951F probably damaging Het
Large2 T C 2: 92,367,582 H258R probably damaging Het
Lnx1 G A 5: 74,685,759 P10L probably benign Het
Lrp6 G A 6: 134,520,417 S209L possibly damaging Het
Mc3r A G 2: 172,249,796 I313V probably benign Het
Med1 T C 11: 98,161,033 D468G possibly damaging Het
Mlxip T C 5: 123,445,951 S526P probably benign Het
Myo15 T C 11: 60,509,531 probably benign Het
Nedd1 T C 10: 92,689,641 D602G possibly damaging Het
Nol7 C T 13: 43,401,293 probably benign Het
Olfr250 T C 9: 38,368,068 I174T possibly damaging Het
Piezo2 T C 18: 63,124,660 D329G probably benign Het
Pkia G T 3: 7,442,082 E75* probably null Het
Ptpn14 A T 1: 189,839,557 T282S probably damaging Het
Ptprg C T 14: 12,219,029 P408S probably damaging Het
Rpa2 A G 4: 132,775,047 I147V probably benign Het
Serpina12 T C 12: 104,031,138 T375A possibly damaging Het
Serpinb11 T A 1: 107,379,816 S326T probably damaging Het
Slc18a1 T C 8: 69,038,863 T500A probably benign Het
Tapt1 A G 5: 44,193,187 F247L possibly damaging Het
Trav8d-2 A G 14: 53,042,761 I69M possibly damaging 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
IGL02811:Dcbld1 APN 10 52319973 missense probably benign
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 On2016-08-02