Incidental Mutation 'IGL01456:Dcbld2'
ID84797
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dcbld2
Ensembl Gene ENSMUSG00000035107
Gene Namediscoidin, CUB and LCCL domain containing 2
SynonymsEsdn, 1700055P21Rik, CLCP1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01456
Quality Score
Status
Chromosome16
Chromosomal Location58408443-58469727 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 58408873 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 40 (P40S)
Ref Sequence ENSEMBL: ENSMUSP00000039915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046663]
Predicted Effect possibly damaging
Transcript: ENSMUST00000046663
AA Change: P40S

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000039915
Gene: ENSMUSG00000035107
AA Change: P40S

DomainStartEndE-ValueType
low complexity region 2 34 N/A INTRINSIC
CUB 69 184 4.26e-37 SMART
LCCL 188 273 4.74e-37 SMART
FA58C 288 446 4.08e-28 SMART
transmembrane domain 522 544 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133622
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced postnatal angiogenesis and impaired recovery from femoral artery ligation with impaired blood flow and decreased capillary density. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T A 12: 113,491,463 D633E probably benign Het
Akap13 T C 7: 75,602,847 C242R probably damaging Het
Ap5z1 T C 5: 142,468,036 L175P probably damaging Het
Arid1b A G 17: 5,291,235 E938G probably damaging Het
Arid4a A G 12: 71,067,262 N208D probably benign Het
Atr A G 9: 95,950,565 H2556R possibly damaging Het
Cald1 A T 6: 34,764,996 D438V probably damaging Het
Dock8 G A 19: 25,119,499 M590I possibly damaging Het
Gm1818 A T 12: 48,555,800 noncoding transcript Het
Hace1 A G 10: 45,709,998 probably benign Het
Igkv10-96 A G 6: 68,632,102 Y70H probably benign Het
Kdm2a G T 19: 4,351,755 H200Q probably damaging Het
Ldha A G 7: 46,850,178 D111G possibly damaging Het
Map7 A G 10: 20,273,804 E567G unknown Het
Nbeal1 G T 1: 60,230,628 L375F probably damaging Het
Nectin3 T C 16: 46,458,853 E254G probably benign Het
Nlrp4b A T 7: 10,714,223 I118F probably benign Het
Pkhd1 A T 1: 20,199,459 V3287D probably damaging Het
Ptpre T G 7: 135,669,802 V375G probably damaging Het
Rabgap1 A G 2: 37,541,175 E746G probably damaging Het
Sh2b2 C T 5: 136,224,467 C311Y probably damaging Het
Skor1 G A 9: 63,145,490 T399I probably damaging Het
Sptbn2 A G 19: 4,746,749 T1792A probably damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tln1 G A 4: 43,543,432 probably benign Het
Tmc7 C A 7: 118,547,310 probably benign Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Tpte A G 8: 22,345,052 probably benign Het
Unc13a G A 8: 71,644,567 R1228W probably damaging Het
Vipr1 C T 9: 121,665,178 T275M probably damaging Het
Vmn1r177 G T 7: 23,866,328 P41Q possibly damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Other mutations in Dcbld2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01978:Dcbld2 APN 16 58464319 missense probably benign 0.00
IGL02143:Dcbld2 APN 16 58448526 critical splice donor site probably null
IGL02953:Dcbld2 APN 16 58451737 missense probably benign 0.29
IGL03109:Dcbld2 APN 16 58456402 missense probably benign 0.06
IGL03131:Dcbld2 APN 16 58451688 missense probably benign 0.00
R0183:Dcbld2 UTSW 16 58445359 missense possibly damaging 0.70
R0305:Dcbld2 UTSW 16 58448939 missense probably damaging 1.00
R0316:Dcbld2 UTSW 16 58433445 missense probably damaging 1.00
R0371:Dcbld2 UTSW 16 58450823 missense probably benign 0.09
R0548:Dcbld2 UTSW 16 58455145 missense probably damaging 0.98
R0751:Dcbld2 UTSW 16 58449841 critical splice donor site probably null
R0906:Dcbld2 UTSW 16 58455247 missense probably damaging 1.00
R1184:Dcbld2 UTSW 16 58449841 critical splice donor site probably null
R1557:Dcbld2 UTSW 16 58465350 missense possibly damaging 0.49
R1995:Dcbld2 UTSW 16 58456332 missense probably benign
R3930:Dcbld2 UTSW 16 58465338 missense probably damaging 1.00
R3931:Dcbld2 UTSW 16 58465338 missense probably damaging 1.00
R4080:Dcbld2 UTSW 16 58465373 missense probably damaging 1.00
R4385:Dcbld2 UTSW 16 58463066 missense probably damaging 0.96
R4615:Dcbld2 UTSW 16 58456094 missense probably benign 0.03
R4739:Dcbld2 UTSW 16 58460976 missense probably damaging 1.00
R4963:Dcbld2 UTSW 16 58465782 missense probably benign
R4968:Dcbld2 UTSW 16 58424711 missense probably damaging 1.00
R5419:Dcbld2 UTSW 16 58455258 missense probably damaging 0.99
R5684:Dcbld2 UTSW 16 58449809 missense possibly damaging 0.90
R5737:Dcbld2 UTSW 16 58460985 missense probably damaging 1.00
R6277:Dcbld2 UTSW 16 58451756 missense probably damaging 0.97
R6277:Dcbld2 UTSW 16 58465503 missense probably damaging 1.00
R6468:Dcbld2 UTSW 16 58433373 nonsense probably null
R6753:Dcbld2 UTSW 16 58456130 missense possibly damaging 0.94
R7213:Dcbld2 UTSW 16 58450763 missense probably benign 0.02
R7360:Dcbld2 UTSW 16 58465320 splice site probably null
R7555:Dcbld2 UTSW 16 58448718 intron probably null
R7570:Dcbld2 UTSW 16 58424569 missense possibly damaging 0.86
R7593:Dcbld2 UTSW 16 58424578 missense possibly damaging 0.82
R8072:Dcbld2 UTSW 16 58463097 nonsense probably null
Posted On2013-11-11