Incidental Mutation 'R2220:Iqcb1'
ID 241459
Institutional Source Beutler Lab
Gene Symbol Iqcb1
Ensembl Gene ENSMUSG00000022837
Gene Name IQ calmodulin-binding motif containing 1
Synonyms 6820449I09Rik, NPHP5
MMRRC Submission 040222-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # R2220 (G1)
Quality Score 198
Status Not validated
Chromosome 16
Chromosomal Location 36648747-36693083 bp(+) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to T at 36663824 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 null
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 null
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: ENSMUST00000134556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232162
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T C 4: 144,344,572 (GRCm39) I116T probably damaging Het
Aatk G T 11: 119,903,003 (GRCm39) F407L probably damaging Het
Abca8a A T 11: 109,917,681 (GRCm39) L1586Q probably damaging Het
Aox1 A G 1: 58,388,289 (GRCm39) probably null Het
Ap5m1 A G 14: 49,318,552 (GRCm39) D420G probably damaging Het
Bcl6 A T 16: 23,791,382 (GRCm39) L324* probably null Het
Bicc1 A G 10: 70,785,955 (GRCm39) S396P probably damaging Het
Bltp1 T C 3: 36,929,679 (GRCm39) probably null Het
Ccdc83 G A 7: 89,908,722 (GRCm39) S4L probably damaging Het
Cdkal1 T A 13: 29,538,741 (GRCm39) M473L probably benign Het
Cep85 T C 4: 133,881,178 (GRCm39) H363R probably damaging Het
Cfap61 G A 2: 145,878,736 (GRCm39) probably null Het
Cfap65 T C 1: 74,943,184 (GRCm39) I1614V probably damaging Het
Cluh T A 11: 74,557,947 (GRCm39) F1062I probably damaging Het
Cntnap5a A T 1: 116,508,369 (GRCm39) T1294S possibly damaging Het
Cops8 A C 1: 90,534,341 (GRCm39) N94T probably benign Het
Csmd1 T C 8: 16,042,641 (GRCm39) D2364G possibly damaging Het
Cyb5d1 T C 11: 69,285,871 (GRCm39) D55G probably benign Het
Cyp2c29 A T 19: 39,275,676 (GRCm39) I39F probably benign Het
Cyp2j8 T C 4: 96,332,862 (GRCm39) S495G probably benign Het
Dhx30 A G 9: 109,916,703 (GRCm39) L575P probably damaging Het
Dnah7a C T 1: 53,560,333 (GRCm39) V2113I probably benign Het
Dusp3 T C 11: 101,865,631 (GRCm39) N95D probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fer1l4 T G 2: 155,873,684 (GRCm39) Y1207S probably damaging Het
Flg2 T G 3: 93,109,492 (GRCm39) S507A unknown Het
Gdf6 A G 4: 9,844,770 (GRCm39) H98R probably damaging Het
Ggnbp2 T C 11: 84,727,439 (GRCm39) N63S possibly damaging Het
Ggt7 A G 2: 155,337,639 (GRCm39) S504P probably damaging Het
Gtf2h5 G A 17: 6,134,853 (GRCm39) E48K probably benign Het
Hivep3 T G 4: 119,591,235 (GRCm39) V81G possibly damaging Het
Igsf21 A G 4: 139,755,425 (GRCm39) M410T probably damaging Het
Insrr T C 3: 87,716,725 (GRCm39) L651P probably damaging Het
Klhdc7a G A 4: 139,692,764 (GRCm39) R728C probably benign Het
Lars2 T C 9: 123,247,845 (GRCm39) L334P probably damaging Het
Mast3 T C 8: 71,233,607 (GRCm39) E994G probably damaging Het
Mertk T A 2: 128,643,392 (GRCm39) N930K probably benign Het
Mettl21a A T 1: 64,655,442 (GRCm39) V46E probably damaging Het
Nedd4 T A 9: 72,643,989 (GRCm39) C614S probably damaging Het
Or13a19 T C 7: 139,903,484 (GRCm39) S291P probably benign Het
Or2l13b A T 16: 19,348,895 (GRCm39) Y258* probably null Het
Or5k1 G T 16: 58,617,987 (GRCm39) A74D possibly damaging Het
Pard3b C T 1: 62,518,842 (GRCm39) R976* probably null Het
Pcdhb16 A G 18: 37,612,020 (GRCm39) T327A probably benign Het
Pira12 A T 7: 3,900,488 (GRCm39) N87K probably benign Het
Ppp1r37 C A 7: 19,266,371 (GRCm39) R465L probably null Het
Ppp3ca C A 3: 136,503,685 (GRCm39) T86K probably damaging Het
Ralgapa2 G A 2: 146,263,599 (GRCm39) T706I probably benign Het
Rnf213 T C 11: 119,327,254 (GRCm39) L1747P possibly damaging Het
Slc11a1 T A 1: 74,419,824 (GRCm39) F166I probably damaging Het
Slc25a18 G A 6: 120,770,518 (GRCm39) probably null Het
Stt3a A G 9: 36,660,847 (GRCm39) probably null Het
Supt16 G A 14: 52,409,601 (GRCm39) R770* probably null Het
Syde2 A G 3: 145,707,713 (GRCm39) I551V probably benign Het
Tasor2 A T 13: 3,631,872 (GRCm39) N876K probably benign Het
Tecta T C 9: 42,303,326 (GRCm39) D102G probably damaging Het
Tmc7 A T 7: 118,152,039 (GRCm39) I294N possibly damaging Het
Tmem174 T C 13: 98,773,767 (GRCm39) Y21C probably damaging Het
Tomm40l A T 1: 171,049,550 (GRCm39) L13* probably null Het
Trim30c A G 7: 104,032,474 (GRCm39) V284A probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Uggt2 A T 14: 119,312,749 (GRCm39) N353K probably damaging Het
Vps13d C T 4: 144,904,890 (GRCm39) V79M probably damaging Het
Wfdc18 C T 11: 83,600,739 (GRCm39) R45* probably null 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
IGL00763:Iqcb1 APN 16 36,676,649 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GCCAGAAGTTTAGCAGAAATGATC -3'
(R):5'- TCCATGAGACCTGATGAATAAACCC -3'

Sequencing Primer
(F):5'- AGCAGAAATGATCAAACTTTCATTTG -3'
(R):5'- GAGACCTGATGAATAAACCCATATTC -3'
Posted On 2014-10-15