Incidental Mutation 'IGL03286:Calcoco2'
ID415738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Calcoco2
Ensembl Gene ENSMUSG00000006056
Gene Namecalcium binding and coiled-coil domain 2
SynonymsNdp52, Ndp52l1, 2410154J16Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03286
Quality Score
Status
Chromosome11
Chromosomal Location96099326-96111964 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 96103272 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 116 (V116A)
Ref Sequence ENSEMBL: ENSMUSP00000103309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068686] [ENSMUST00000097162]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068686
AA Change: V116A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000087407
Gene: ENSMUSG00000006056
AA Change: V116A

DomainStartEndE-ValueType
Pfam:CALCOCO1 16 258 4.5e-34 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000097162
AA Change: V116A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103309
Gene: ENSMUSG00000006056
AA Change: V116A

DomainStartEndE-ValueType
Pfam:CALCOCO1 14 281 2.3e-27 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 G A 1: 58,049,384 G110S probably benign Het
Arhgap32 T C 9: 32,259,520 S1548P probably benign Het
Cacna1s A G 1: 136,077,659 D147G probably benign Het
Chd5 A T 4: 152,385,495 M1842L probably benign Het
Comt T C 16: 18,411,740 D73G probably damaging Het
Ctnna1 A G 18: 35,175,153 I175M probably benign Het
Dnah6 A T 6: 73,083,085 Y2839N probably damaging Het
Dph7 T A 2: 24,966,616 H193Q probably damaging Het
Eif2b5 A G 16: 20,502,262 D258G probably damaging Het
Eml5 T C 12: 98,860,503 D630G probably damaging Het
Ext2 C T 2: 93,707,272 V590M probably damaging Het
Fchsd2 T C 7: 101,259,775 probably null Het
Gm13272 A G 4: 88,780,349 Q167R probably benign Het
Gm21834 A G 17: 57,741,927 V98A possibly damaging Het
Grid1 T A 14: 35,520,685 probably benign Het
H2-DMa T A 17: 34,137,109 probably null Het
Ighv5-17 T G 12: 113,859,177 E108A possibly damaging Het
Invs A G 4: 48,382,261 T144A probably benign Het
Ipo9 A G 1: 135,407,078 probably benign Het
Itga4 A T 2: 79,289,362 Y504F probably damaging Het
Krt5 A G 15: 101,707,548 F544S unknown Het
Larp4 A G 15: 99,986,086 Y67C probably damaging Het
Msh2 T C 17: 87,682,667 M261T possibly damaging Het
Nav1 A T 1: 135,454,536 C1367S probably benign Het
Nox4 T A 7: 87,370,141 probably benign Het
Noxa1 A G 2: 25,085,720 probably null Het
Olfr1450 A C 19: 12,954,168 Y193S probably benign Het
Olfr414 A C 1: 174,431,177 I250L probably benign Het
Pde4d T A 13: 109,954,506 probably benign Het
Pdlim2 C T 14: 70,174,476 G36S possibly damaging Het
Plekhm2 A G 4: 141,634,347 S262P possibly damaging Het
Pnpla6 C A 8: 3,531,473 T582K probably damaging Het
Rap1b A T 10: 117,818,575 L120* probably null Het
Rft1 C T 14: 30,661,366 T121I probably benign Het
Scn1a A G 2: 66,277,576 I1613T probably damaging Het
Slc47a2 T G 11: 61,342,467 E79A possibly damaging Het
Slc9a4 A G 1: 40,580,768 I85V probably null Het
Slfn8 A T 11: 83,013,468 F365L probably damaging Het
Smcr8 T A 11: 60,778,027 probably benign Het
Sntb1 T C 15: 55,792,046 D258G possibly damaging Het
Sorbs1 A G 19: 40,344,414 I520T probably damaging Het
Sptbn2 T C 19: 4,747,832 S1896P probably damaging Het
Sptlc3 G A 2: 139,589,659 G367D probably damaging Het
Stab1 C T 14: 31,159,326 probably benign Het
Tars2 T C 3: 95,754,755 probably benign Het
Tchhl1 C T 3: 93,471,123 A378V probably benign Het
Tet3 A T 6: 83,375,778 F1012Y probably damaging Het
Tuba8 A G 6: 121,222,954 D199G possibly damaging Het
Vmn2r110 T A 17: 20,584,206 T151S possibly damaging Het
Xirp2 T C 2: 67,516,310 I2965T probably damaging Het
Zfp688 T A 7: 127,419,531 M141L probably benign Het
Other mutations in Calcoco2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0671:Calcoco2 UTSW 11 96107528 missense probably damaging 1.00
R1668:Calcoco2 UTSW 11 96102737 missense probably benign 0.33
R4678:Calcoco2 UTSW 11 96103548 missense probably damaging 1.00
R4812:Calcoco2 UTSW 11 96107450 missense probably damaging 1.00
R5481:Calcoco2 UTSW 11 96107543 missense probably damaging 1.00
R5512:Calcoco2 UTSW 11 96103336 missense probably damaging 1.00
R6691:Calcoco2 UTSW 11 96100108 missense unknown
R6997:Calcoco2 UTSW 11 96099982 small deletion probably benign
R7289:Calcoco2 UTSW 11 96099997 missense unknown
X0027:Calcoco2 UTSW 11 96107559 missense probably benign 0.03
Posted On2016-08-02