Incidental Mutation 'IGL00763:Iqcb1'
ID 11482
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iqcb1
Ensembl Gene ENSMUSG00000022837
Gene Name IQ calmodulin-binding motif containing 1
Synonyms 6820449I09Rik, NPHP5
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # IGL00763
Quality Score
Status
Chromosome 16
Chromosomal Location 36648747-36693083 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 36676649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023535] [ENSMUST00000075946] [ENSMUST00000114819]
AlphaFold Q8BP00
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: ENSMUST00000153373
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138660
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
Bmp3 A C 5: 99,020,238 (GRCm39) R220S possibly damaging Het
Bms1 A G 6: 118,395,363 (GRCm39) probably benign Het
Ccdc138 T A 10: 58,411,537 (GRCm39) F635Y probably damaging Het
Ccdc81 T C 7: 89,518,823 (GRCm39) probably benign Het
Cntnap5a T C 1: 116,045,407 (GRCm39) I341T possibly damaging Het
Cog5 C T 12: 31,715,531 (GRCm39) probably benign Het
Dcaf4 G A 12: 83,586,107 (GRCm39) R358H probably damaging Het
Ddx10 A C 9: 53,071,326 (GRCm39) probably benign Het
Fgf15 T A 7: 144,453,629 (GRCm39) F201I probably damaging Het
Galp A G 7: 6,211,499 (GRCm39) Y40C probably damaging Het
Ints6 A G 14: 62,938,314 (GRCm39) probably benign Het
Kif19a G A 11: 114,657,994 (GRCm39) V18I probably benign Het
Lypd8l T G 11: 58,503,707 (GRCm39) probably benign Het
Morc1 A C 16: 48,432,689 (GRCm39) Q719P probably damaging Het
Pla2g4a T C 1: 149,727,076 (GRCm39) D568G probably damaging Het
Plscr4 A G 9: 92,366,998 (GRCm39) E204G probably null Het
Rasgrf1 A G 9: 89,853,073 (GRCm39) T403A probably benign Het
Sec16b A G 1: 157,356,827 (GRCm39) T12A probably benign Het
Slc12a7 A T 13: 73,942,201 (GRCm39) N359I possibly damaging Het
Slc14a2 G T 18: 78,235,453 (GRCm39) D241E probably damaging Het
Slc23a2 G T 2: 131,943,420 (GRCm39) A27E probably benign Het
Slc38a8 T C 8: 120,220,958 (GRCm39) I200M probably benign Het
Thrap3 C T 4: 126,059,371 (GRCm39) G892S probably benign Het
Tmc6 A G 11: 117,669,872 (GRCm39) L20P probably damaging Het
Tnfsfm13 T C 11: 69,575,536 (GRCm39) D256G probably benign Het
Tonsl C T 15: 76,518,068 (GRCm39) A605T probably damaging Het
Usp28 A G 9: 48,939,463 (GRCm39) T240A probably benign Het
Zap70 A T 1: 36,818,333 (GRCm39) D340V possibly damaging Het
Zfp512b A T 2: 181,231,944 (GRCm39) F100I probably damaging Het
Other mutations in Iqcb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Iqcb1 APN 16 36,678,948 (GRCm39) missense probably benign 0.04
IGL00539:Iqcb1 APN 16 36,678,873 (GRCm39) missense probably damaging 1.00
IGL02247:Iqcb1 APN 16 36,660,258 (GRCm39) missense probably benign 0.34
IGL02444:Iqcb1 APN 16 36,652,273 (GRCm39) nonsense probably null
R0360:Iqcb1 UTSW 16 36,692,670 (GRCm39) missense probably damaging 1.00
R1893:Iqcb1 UTSW 16 36,652,245 (GRCm39) missense probably damaging 1.00
R2220:Iqcb1 UTSW 16 36,663,824 (GRCm39) splice site probably null
R2332:Iqcb1 UTSW 16 36,663,801 (GRCm39) missense possibly damaging 0.50
R3833:Iqcb1 UTSW 16 36,652,276 (GRCm39) nonsense probably null
R4841:Iqcb1 UTSW 16 36,655,952 (GRCm39) missense probably benign 0.00
R4842:Iqcb1 UTSW 16 36,655,952 (GRCm39) missense probably benign 0.00
R6574:Iqcb1 UTSW 16 36,691,863 (GRCm39) missense probably damaging 1.00
R6612:Iqcb1 UTSW 16 36,692,023 (GRCm39) unclassified probably benign
R6715:Iqcb1 UTSW 16 36,655,991 (GRCm39) missense probably damaging 0.98
R6939:Iqcb1 UTSW 16 36,660,274 (GRCm39) missense possibly damaging 0.80
R7620:Iqcb1 UTSW 16 36,676,772 (GRCm39) missense probably benign
R7716:Iqcb1 UTSW 16 36,687,969 (GRCm39) missense probably benign
R8247:Iqcb1 UTSW 16 36,678,836 (GRCm39) missense probably benign 0.34
R8976:Iqcb1 UTSW 16 36,692,005 (GRCm39) missense probably benign 0.03
R9081:Iqcb1 UTSW 16 36,656,006 (GRCm39) missense probably null 0.98
R9404:Iqcb1 UTSW 16 36,671,632 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06