Incidental Mutation 'R7620:Iqcb1'
ID 589117
Institutional Source Beutler Lab
Gene Symbol Iqcb1
Ensembl Gene ENSMUSG00000022837
Gene Name IQ calmodulin-binding motif containing 1
Synonyms 6820449I09Rik, NPHP5
MMRRC Submission 045687-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # R7620 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 36648747-36693083 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36676772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 369 (N369S)
Ref Sequence ENSEMBL: ENSMUSP00000023535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023535] [ENSMUST00000075946] [ENSMUST00000114819]
AlphaFold Q8BP00
Predicted Effect probably benign
Transcript: ENSMUST00000023535
AA Change: N369S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023535
Gene: ENSMUSG00000022837
AA Change: N369S

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
AA Change: N369S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000110467
Gene: ENSMUSG00000022837
AA Change: N369S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (43/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 T C 18: 80,173,702 (GRCm39) T236A probably damaging Het
Alkbh7 A G 17: 57,304,551 (GRCm39) Y63C probably damaging Het
Calhm6 A T 10: 34,003,614 (GRCm39) C98S probably damaging Het
Ccr9 T A 9: 123,608,911 (GRCm39) C198S probably damaging Het
Chil3 T A 3: 106,067,751 (GRCm39) D138V probably damaging Het
Cntd1 A T 11: 101,174,240 (GRCm39) E66D probably benign Het
Cpz A T 5: 35,669,194 (GRCm39) N312K possibly damaging Het
Crat A G 2: 30,298,090 (GRCm39) I203T probably damaging Het
Cyp2j13 T A 4: 95,944,899 (GRCm39) H410L probably benign Het
Cyp39a1 G A 17: 44,036,544 (GRCm39) probably null Het
Dnah1 A T 14: 31,025,863 (GRCm39) I828N possibly damaging Het
Dnah7b A G 1: 46,307,794 (GRCm39) D3036G probably damaging Het
Dnpep A G 1: 75,290,092 (GRCm39) V295A probably benign Het
Efcab3 T A 11: 104,722,969 (GRCm39) S1942T possibly damaging Het
Fam111a A G 19: 12,565,301 (GRCm39) D394G possibly damaging Het
Fat1 A G 8: 45,462,887 (GRCm39) K1235E possibly damaging Het
Gabre C A X: 71,313,865 (GRCm39) Q311H unknown Het
Garem1 T C 18: 21,262,898 (GRCm39) S639G probably benign Het
Gsdma A G 11: 98,557,429 (GRCm39) T123A probably benign Het
Lepr G T 4: 101,609,270 (GRCm39) V286F probably benign Het
Lgsn T C 1: 31,242,461 (GRCm39) M181T probably benign Het
Mapk15 T G 15: 75,870,697 (GRCm39) S512A probably benign Het
Mcm3ap A G 10: 76,306,267 (GRCm39) T127A probably benign Het
Msto1 A G 3: 88,818,614 (GRCm39) F315L possibly damaging Het
Myo5a T A 9: 75,071,418 (GRCm39) D673E probably benign Het
Nup88 G C 11: 70,860,605 (GRCm39) P58R probably benign Het
Or4x12-ps1 A C 2: 89,915,977 (GRCm39) I276R probably damaging Het
Or52e15 C A 7: 104,645,962 (GRCm39) V50L possibly damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Ppp1r18 T C 17: 36,178,191 (GRCm39) V22A probably benign Het
Psme1 T A 14: 55,817,797 (GRCm39) C101* probably null Het
Rapgef4 G T 2: 72,059,422 (GRCm39) C743F probably damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rnmt T A 18: 68,447,105 (GRCm39) Y330N probably damaging Het
Skint10 T A 4: 112,573,014 (GRCm39) M261L possibly damaging Het
Slc35b1 T C 11: 95,278,691 (GRCm39) Y192H probably damaging Het
Socs3 A G 11: 117,858,396 (GRCm39) Y221H probably damaging Het
Spink12 A G 18: 44,237,684 (GRCm39) probably benign Het
Sspo T C 6: 48,444,020 (GRCm39) probably null Het
Trp73 G A 4: 154,143,714 (GRCm39) Q551* probably null Het
Vmn2r45 C T 7: 8,486,222 (GRCm39) W355* probably null Het
Wdr35 A G 12: 9,066,042 (GRCm39) I678V probably benign 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
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
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'- CCAATGCTAGGAGTTATCTTCCAG -3'
(R):5'- TGACAGACTGGATCCTTTTCAAG -3'

Sequencing Primer
(F):5'- AGGAGTTATCTTCCAGAACATTTTTG -3'
(R):5'- TAGGTATGGATCAGAAAAGCTGTAAC -3'
Posted On 2019-10-24