Incidental Mutation 'IGL01868:Cib2'
ID178622
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 #IGL01868
Quality Score
Status
Chromosome9
Chromosomal Location54544794-54560218 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 54548475 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 68 (N68K)
Ref Sequence ENSEMBL: ENSMUSP00000038527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041901] [ENSMUST00000060242] [ENSMUST00000118413]
Predicted Effect probably damaging
Transcript: ENSMUST00000041901
AA Change: N68K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038527
Gene: ENSMUSG00000037493
AA Change: N68K

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
Predicted Effect probably benign
Transcript: ENSMUST00000118413
SMART Domains Protein: ENSMUSP00000113298
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,414,148 T569M possibly damaging Het
Aldh1l1 A T 6: 90,583,230 K620* probably null Het
Amdhd2 G T 17: 24,157,530 T346K probably damaging Het
Arhgap44 T C 11: 65,012,078 D521G probably damaging Het
Ccdc146 C A 5: 21,333,054 A91S probably damaging Het
Ccdc187 C A 2: 26,280,948 R506L probably benign Het
Cd37 T C 7: 45,236,179 Q128R probably benign Het
Cdh22 T A 2: 165,157,358 M185L probably damaging Het
Ddx46 C T 13: 55,639,870 R96* probably null Het
Dnajc13 A T 9: 104,162,745 H2050Q possibly damaging Het
Duox1 A G 2: 122,338,407 H1172R probably benign Het
Eftud2 C T 11: 102,869,127 V132I probably benign Het
Fcrl5 G A 3: 87,443,707 D87N possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm14548 G A 7: 3,897,175 Q143* probably null Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Kat6a T C 8: 22,926,455 F660L probably damaging Het
Lipo2 T C 19: 33,730,838 M259V probably benign Het
Lrrcc1 T A 3: 14,554,357 L90* probably null Het
Lsm1 G A 8: 25,793,793 probably null Het
Luzp1 T C 4: 136,542,737 I757T probably damaging Het
Micall1 A G 15: 79,115,060 I76V probably benign Het
Mmp21 A T 7: 133,675,914 D394E probably damaging Het
Mtfr1l T C 4: 134,530,707 D68G probably null Het
Necab2 A G 8: 119,462,576 S162G probably benign Het
Olfr1186 T C 2: 88,525,715 V44A possibly damaging Het
Olfr429 C T 1: 174,089,370 T110I possibly damaging Het
Olfr64 G A 7: 103,893,376 R120* probably null Het
Olfr96 A T 17: 37,225,152 Q9L probably benign Het
Pde7b A T 10: 20,407,165 C376* probably null Het
Plcb2 A G 2: 118,709,590 L1074P probably damaging Het
Plcb2 G T 2: 118,711,387 T914N probably benign Het
Prph C A 15: 99,056,343 D207E probably damaging Het
Prrxl1 C A 14: 32,608,377 F150L probably damaging Het
Rbp4 C A 19: 38,124,520 R37L probably damaging Het
Ryr3 T C 2: 112,803,158 probably benign Het
Sardh T G 2: 27,227,147 Q496P probably benign Het
Serpina1f T A 12: 103,693,445 N193Y probably benign Het
Slc10a7 G A 8: 78,697,336 probably null Het
Spg7 T C 8: 123,090,236 probably null Het
Sphkap T C 1: 83,280,399 probably null Het
Tas2r121 T A 6: 132,700,272 I246L probably benign Het
Tbc1d9b T C 11: 50,161,633 F889S probably damaging Het
Tcp10a T C 17: 7,329,864 M140T possibly damaging Het
Tctn2 G A 5: 124,616,528 noncoding transcript Het
Tfap2b G T 1: 19,214,282 R138L probably damaging Het
Tnrc18 T C 5: 142,771,812 T985A unknown Het
Treml1 G A 17: 48,366,007 V211I probably benign Het
Ubr4 C T 4: 139,412,678 Q1191* probably null Het
Vim G A 2: 13,578,438 R217H possibly damaging Het
Vmn2r77 A G 7: 86,803,016 D468G probably benign Het
Vmn2r98 G T 17: 19,066,286 V349F probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vwa7 A T 17: 35,021,259 E401V probably null Het
Zfp119b C A 17: 55,939,866 V75L possibly damaging Het
Zfp287 C T 11: 62,715,257 E275K probably benign Het
Other mutations in Cib2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01780:Cib2 APN 9 54549886 missense probably damaging 0.97
IGL02350:Cib2 APN 9 54549886 missense probably damaging 0.97
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 On2014-05-07