Incidental Mutation 'IGL02350:Cib2'
ID289753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cib2
Ensembl Gene ENSMUSG00000037493
Gene Namecalcium and integrin binding family member 2
Synonymscalcium binding protein Kip2, 2810434I23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02350
Quality Score
Status
Chromosome9
Chromosomal Location54544794-54560218 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 54549886 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 31 (H31Q)
Ref Sequence ENSEMBL: ENSMUSP00000038527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041901] [ENSMUST00000060242]
Predicted Effect probably damaging
Transcript: ENSMUST00000041901
AA Change: H31Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038527
Gene: ENSMUSG00000037493
AA Change: H31Q

DomainStartEndE-ValueType
EFh 73 98 8.33e1 SMART
EFh 107 135 5.38e0 SMART
EFh 148 176 3.3e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000060242
SMART Domains Protein: ENSMUSP00000053690
Gene: ENSMUSG00000046460

DomainStartEndE-ValueType
Blast:SH2 1 51 7e-6 BLAST
low complexity region 165 176 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110035E14Rik T C 1: 9,613,319 I44T possibly damaging Het
Abhd8 A G 8: 71,461,477 V169A probably benign Het
Adamts16 T A 13: 70,738,585 T1029S probably benign Het
Adgrv1 C A 13: 81,270,855 C6007F probably benign Het
Ak8 A T 2: 28,700,213 H8L probably benign Het
Apol7b A G 15: 77,423,632 V221A probably benign Het
BC005624 G A 2: 30,973,767 P235S probably benign Het
Cd96 A G 16: 46,069,776 probably benign Het
Celf1 A T 2: 90,998,588 K27I probably damaging Het
Cfap65 A T 1: 74,928,348 C190* probably null Het
Cyp3a59 T C 5: 146,079,342 L3P probably damaging Het
Dnajc13 T C 9: 104,162,359 M2104V possibly damaging Het
Dph3b-ps A G 13: 106,546,945 noncoding transcript Het
Emb A G 13: 117,249,471 probably benign Het
Fbn2 G T 18: 58,103,995 N645K possibly damaging Het
Fes T C 7: 80,383,830 probably null Het
Flnc A T 6: 29,438,493 K129* probably null Het
Gckr C A 5: 31,307,790 H368N possibly damaging Het
Gm5145 A T 17: 20,570,440 I27F probably damaging Het
Hecw1 A G 13: 14,248,338 probably null Het
Hivep3 T G 4: 120,123,025 C1753W probably damaging Het
Hook2 C T 8: 84,994,985 Q291* probably null Het
Jakmip2 T C 18: 43,547,127 T722A possibly damaging Het
Kcnt2 A G 1: 140,351,269 I53V probably benign Het
Lipo2 A G 19: 33,730,948 L222P possibly damaging Het
Mrc2 A G 11: 105,325,721 D112G probably damaging Het
Mroh2b A G 15: 4,912,000 N338S probably benign Het
Mrpl23 T A 7: 142,536,065 probably benign Het
Myo18a A G 11: 77,850,247 N1442S probably benign Het
Ngdn T A 14: 55,021,936 V179E probably damaging Het
Nxn A G 11: 76,274,654 probably benign Het
Olfr1349 T A 7: 6,515,226 M68L probably damaging Het
Olfr1535 A G 13: 21,555,602 L140P probably damaging Het
Osmr A T 15: 6,828,663 N441K probably benign Het
Plcb3 A C 19: 6,958,178 L789R probably damaging Het
Plek C T 11: 16,981,846 R335H probably damaging Het
Pmp22 G T 11: 63,158,308 V126F probably benign Het
Prom1 A G 5: 44,029,604 probably benign Het
Prss1 C A 6: 41,463,205 Q159K probably damaging Het
Psd3 G T 8: 67,963,869 H459N probably benign Het
Rusc2 T G 4: 43,425,351 V1152G possibly damaging Het
Slc16a4 A G 3: 107,303,099 I362V probably benign Het
Slc22a22 A G 15: 57,247,448 V461A probably benign Het
Slc35e4 C T 11: 3,912,640 R183Q probably benign Het
Spen T C 4: 141,477,579 T1246A unknown Het
Syt16 T C 12: 74,266,842 V514A probably benign Het
Tdpoz2 A G 3: 93,652,428 V79A possibly damaging Het
Ttn A G 2: 76,709,619 V34341A probably benign Het
Wwox T C 8: 114,712,142 V316A possibly damaging Het
Other mutations in Cib2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01780:Cib2 APN 9 54549886 missense probably damaging 0.97
IGL01868:Cib2 APN 9 54548475 missense probably damaging 0.98
IGL02357:Cib2 APN 9 54549886 missense probably damaging 0.97
IGL02656:Cib2 APN 9 54545898 missense probably damaging 1.00
PIT4377001:Cib2 UTSW 9 54559987 missense probably damaging 0.96
R0617:Cib2 UTSW 9 54554496 missense possibly damaging 0.71
R1670:Cib2 UTSW 9 54548369 missense probably damaging 1.00
R2409:Cib2 UTSW 9 54545467 unclassified probably null
R4790:Cib2 UTSW 9 54549803 unclassified probably null
R4910:Cib2 UTSW 9 54549879 missense probably benign 0.34
R6823:Cib2 UTSW 9 54549891 missense possibly damaging 0.89
Posted On2015-04-16