Incidental Mutation 'IGL00539:Iqcb1'
ID3976
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: 0.722) question?
Stock #IGL00539
Quality Score
Status
Chromosome16
Chromosomal Location36828385-36872721 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36858511 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 396 (K396E)
Ref Sequence ENSEMBL: ENSMUSP00000110467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023535] [ENSMUST00000075946] [ENSMUST00000114819]
Predicted Effect probably damaging
Transcript: ENSMUST00000023535
AA Change: K396E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000023535
Gene: ENSMUSG00000022837
AA Change: K396E

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 damaging
Transcript: ENSMUST00000114819
AA Change: K396E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110467
Gene: ENSMUSG00000022837
AA Change: K396E

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: ENSMUST00000138660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153373
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231824
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak C A 19: 9,007,908 D2185E possibly damaging Het
Camk2b A G 11: 5,972,310 S560P probably damaging Het
Cdh13 C A 8: 119,312,506 N562K possibly damaging Het
Cdhr4 A G 9: 107,999,545 Y771C probably damaging Het
Ermap A G 4: 119,183,917 S299P probably damaging Het
Fgd3 A G 13: 49,275,643 probably benign Het
Fpr-rs4 T A 17: 18,021,926 L65Q probably damaging Het
Hsph1 C T 5: 149,618,789 R723H possibly damaging Het
Kif21a T C 15: 90,937,301 T1424A probably damaging Het
Mpdz T C 4: 81,361,351 S700G possibly damaging Het
Mta3 G A 17: 83,762,983 R39Q probably benign Het
Muc4 A T 16: 32,750,910 T263S possibly damaging Het
Ncan G A 8: 70,115,271 P64S probably benign Het
Pisd T C 5: 32,738,412 I441V probably benign Het
Pla2g4f T C 2: 120,302,738 H660R possibly damaging Het
Polq A G 16: 37,060,569 T753A probably damaging Het
Ptchd4 C T 17: 42,316,926 Q93* probably null Het
Sfpq T C 4: 127,023,688 V437A possibly damaging Het
Slc18b1 G A 10: 23,824,761 probably null Het
Taf1c C T 8: 119,601,328 V277I possibly damaging Het
Tcf20 T A 15: 82,852,756 Q1498L probably benign Het
Tet1 C A 10: 62,814,497 C1644F probably damaging Het
Trmt5 T C 12: 73,284,919 E121G possibly damaging Het
Wapl A G 14: 34,695,008 D525G probably damaging Het
Ylpm1 A G 12: 85,028,954 T360A possibly damaging Het
Zfp292 G A 4: 34,808,790 P1418L probably damaging Het
Other mutations in Iqcb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Iqcb1 APN 16 36858586 missense probably benign 0.04
IGL00763:Iqcb1 APN 16 36856287 splice site probably benign
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
R8247:Iqcb1 UTSW 16 36858474 missense probably benign 0.34
Posted On2012-04-20