Incidental Mutation 'IGL02810:Iqck'
ID 360558
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iqck
Ensembl Gene ENSMUSG00000073856
Gene Name IQ motif containing K
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL02810
Quality Score
Status
Chromosome 7
Chromosomal Location 118855752-118972652 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118971439 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 271 (K271N)
Ref Sequence ENSEMBL: ENSMUSP00000102157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008878] [ENSMUST00000098087] [ENSMUST00000106547] [ENSMUST00000152136] [ENSMUST00000208394]
AlphaFold D3YYL3
Predicted Effect probably benign
Transcript: ENSMUST00000008878
SMART Domains Protein: ENSMUSP00000008878
Gene: ENSMUSG00000008734

DomainStartEndE-ValueType
Pfam:7tm_3 67 294 2e-33 PFAM
low complexity region 360 371 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000098087
AA Change: K274N

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095693
Gene: ENSMUSG00000073856
AA Change: K274N

DomainStartEndE-ValueType
low complexity region 111 120 N/A INTRINSIC
IQ 219 241 7.58e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106547
AA Change: K271N

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102157
Gene: ENSMUSG00000073856
AA Change: K271N

DomainStartEndE-ValueType
low complexity region 108 117 N/A INTRINSIC
IQ 216 238 7.58e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132148
Predicted Effect probably benign
Transcript: ENSMUST00000152136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208287
Predicted Effect probably benign
Transcript: ENSMUST00000208394
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 belongs to the IQ motif-containing family of proteins. The IQ motif serves as a binding site for different EF-hand proteins such as calmodulin. This gene was identified as a potential candidate gene for obsessive-compulsive disorder in a genome-wide association study. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,101,535 K1491E probably damaging Het
Abi3bp T C 16: 56,677,775 S696P probably damaging Het
Ago1 A G 4: 126,443,093 V273A probably benign Het
Bbs2 A G 8: 94,086,911 Y213H probably benign Het
Car10 T A 11: 93,578,696 Y142N probably damaging Het
Ccdc130 A G 8: 84,264,368 probably benign Het
Eml6 T C 11: 29,849,016 K415E possibly damaging Het
Exoc3l A T 8: 105,295,348 I41N probably damaging Het
Fam214b C A 4: 43,034,429 V389F probably damaging Het
Fat3 T C 9: 16,376,850 D459G probably damaging Het
Gabbr1 T C 17: 37,062,762 F401L probably damaging Het
Galnt10 G A 11: 57,725,586 R109Q probably damaging Het
Gpr108 C T 17: 57,242,742 D265N probably benign Het
Helb T C 10: 120,091,703 N834S possibly damaging Het
Igkv8-30 A G 6: 70,117,358 V23A probably benign Het
Klhl17 T C 4: 156,234,057 E36G possibly damaging Het
Klrb1b A G 6: 128,818,467 probably null Het
Mybl1 T C 1: 9,678,388 T328A probably benign Het
Mybl1 G A 1: 9,673,115 P571S probably damaging Het
Nav3 A T 10: 109,816,274 D873E probably damaging Het
Nms T C 1: 38,948,644 Y147H possibly damaging Het
Nrde2 A T 12: 100,143,758 M338K possibly damaging Het
Oasl2 T A 5: 114,897,791 F43I probably damaging Het
Oxr1 G A 15: 41,813,583 V91I probably benign Het
Pcnx2 C T 8: 125,887,203 C503Y probably benign Het
Polr2m A T 9: 71,483,566 I14K probably benign Het
Ppara T C 15: 85,777,677 S40P probably damaging Het
Shisa6 T A 11: 66,224,948 T288S possibly damaging Het
Slc26a5 T C 5: 21,813,383 probably benign Het
Spag1 A G 15: 36,234,547 N818D probably damaging Het
Srcap T C 7: 127,521,663 probably null Het
Tctn1 C T 5: 122,242,601 probably null Het
Triobp A G 15: 79,002,203 N507S possibly damaging Het
Ugt2b34 C A 5: 86,906,524 V133L probably benign Het
Zcchc6 A G 13: 59,782,016 probably null Het
Other mutations in Iqck
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Iqck APN 7 118877678 missense probably damaging 1.00
IGL03403:Iqck APN 7 118876271 missense probably benign 0.21
R0541:Iqck UTSW 7 118915594 missense probably damaging 1.00
R0781:Iqck UTSW 7 118899657 missense possibly damaging 0.77
R0829:Iqck UTSW 7 118899888 critical splice donor site probably null
R0898:Iqck UTSW 7 118971441 missense probably damaging 0.99
R2273:Iqck UTSW 7 118899657 missense possibly damaging 0.77
R2274:Iqck UTSW 7 118899657 missense possibly damaging 0.77
R2275:Iqck UTSW 7 118899657 missense possibly damaging 0.77
R2509:Iqck UTSW 7 118876282 missense probably benign
R4033:Iqck UTSW 7 118941604 missense probably damaging 1.00
R6299:Iqck UTSW 7 118876262 missense unknown
R6520:Iqck UTSW 7 118941631 missense probably damaging 1.00
R7095:Iqck UTSW 7 118915591 missense probably damaging 1.00
R7823:Iqck UTSW 7 118872823 missense probably damaging 1.00
R9038:Iqck UTSW 7 118899658 missense probably damaging 1.00
R9218:Iqck UTSW 7 118941679 missense probably damaging 0.98
Z1176:Iqck UTSW 7 118941654 missense probably benign 0.19
Posted On 2015-12-18