Incidental Mutation 'IGL00763:Iqcb1'
ID11482
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iqcb1
Ensembl Gene ENSMUSG00000022837
Gene NameIQ calmodulin-binding motif containing 1
Synonyms6820449I09Rik, NPHP5
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.746) question?
Stock #IGL00763
Quality Score
Status
Chromosome16
Chromosomal Location36828385-36872721 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 36856287 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023535] [ENSMUST00000075946] [ENSMUST00000114819]
Predicted Effect probably benign
Transcript: ENSMUST00000023535
SMART Domains Protein: ENSMUSP00000023535
Gene: ENSMUSG00000022837

DomainStartEndE-ValueType
IQ 293 315 5.92e-4 SMART
low complexity region 341 358 N/A INTRINSIC
IQ 386 408 2.66e-6 SMART
low complexity region 428 442 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000075946
SMART Domains Protein: ENSMUSP00000075331
Gene: ENSMUSG00000022838

DomainStartEndE-ValueType
low complexity region 44 71 N/A INTRINSIC
low complexity region 117 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114819
SMART Domains Protein: ENSMUSP00000110467
Gene: ENSMUSG00000022837

DomainStartEndE-ValueType
IQ 293 315 5.92e-4 SMART
low complexity region 341 358 N/A INTRINSIC
IQ 386 408 2.66e-6 SMART
low complexity region 428 442 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153373
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157072
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik T G 11: 58,612,881 probably benign Het
Bmp3 A C 5: 98,872,379 R220S possibly damaging Het
Bms1 A G 6: 118,418,402 probably benign Het
Ccdc138 T A 10: 58,575,715 F635Y probably damaging Het
Ccdc81 T C 7: 89,869,615 probably benign Het
Cntnap5a T C 1: 116,117,677 I341T possibly damaging Het
Cog5 C T 12: 31,665,532 probably benign Het
Dcaf4 G A 12: 83,539,333 R358H probably damaging Het
Ddx10 A C 9: 53,160,026 probably benign Het
Fgf15 T A 7: 144,899,892 F201I probably damaging Het
Galp A G 7: 6,208,500 Y40C probably damaging Het
Ints6 A G 14: 62,700,865 probably benign Het
Kif19a G A 11: 114,767,168 V18I probably benign Het
Morc1 A C 16: 48,612,326 Q719P probably damaging Het
Pla2g4a T C 1: 149,851,325 D568G probably damaging Het
Plscr4 A G 9: 92,484,945 E204G probably null Het
Rasgrf1 A G 9: 89,971,020 T403A probably benign Het
Sec16b A G 1: 157,529,257 T12A probably benign Het
Slc12a7 A T 13: 73,794,082 N359I possibly damaging Het
Slc14a2 G T 18: 78,192,238 D241E probably damaging Het
Slc23a2 G T 2: 132,101,500 A27E probably benign Het
Slc38a8 T C 8: 119,494,219 I200M probably benign Het
Thrap3 C T 4: 126,165,578 G892S probably benign Het
Tmc6 A G 11: 117,779,046 L20P probably damaging Het
Tnfsfm13 T C 11: 69,684,710 D256G probably benign Het
Tonsl C T 15: 76,633,868 A605T probably damaging Het
Usp28 A G 9: 49,028,163 T240A probably benign Het
Zap70 A T 1: 36,779,252 D340V possibly damaging Het
Zfp512b A T 2: 181,590,151 F100I probably damaging Het
Other mutations in Iqcb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Iqcb1 APN 16 36858586 missense probably benign 0.04
IGL00539:Iqcb1 APN 16 36858511 missense probably damaging 1.00
IGL02247:Iqcb1 APN 16 36839896 missense probably benign 0.34
IGL02444:Iqcb1 APN 16 36831911 nonsense probably null
R0360:Iqcb1 UTSW 16 36872308 missense probably damaging 1.00
R1893:Iqcb1 UTSW 16 36831883 missense probably damaging 1.00
R2220:Iqcb1 UTSW 16 36843462 splice site probably null
R2332:Iqcb1 UTSW 16 36843439 missense possibly damaging 0.50
R3833:Iqcb1 UTSW 16 36831914 nonsense probably null
R4841:Iqcb1 UTSW 16 36835590 missense probably benign 0.00
R4842:Iqcb1 UTSW 16 36835590 missense probably benign 0.00
R6574:Iqcb1 UTSW 16 36871501 missense probably damaging 1.00
R6612:Iqcb1 UTSW 16 36871661 unclassified probably benign
R6715:Iqcb1 UTSW 16 36835629 missense probably damaging 0.98
R6939:Iqcb1 UTSW 16 36839912 missense possibly damaging 0.80
R7620:Iqcb1 UTSW 16 36856410 missense probably benign
R7716:Iqcb1 UTSW 16 36867607 missense probably benign
Posted On2012-12-06