Incidental Mutation 'IGL03403:Iqck'
ID 421500
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iqck
Ensembl Gene ENSMUSG00000073856
Gene Name IQ motif containing K
Synonyms A230094G09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL03403
Quality Score
Status
Chromosome 7
Chromosomal Location 118454975-118571343 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118475494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 97 (H97Q)
Ref Sequence ENSEMBL: ENSMUSP00000095693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098087] [ENSMUST00000106547] [ENSMUST00000152136]
AlphaFold D3YYL3
Predicted Effect probably benign
Transcript: ENSMUST00000098087
AA Change: H97Q

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000095693
Gene: ENSMUSG00000073856
AA Change: H97Q

DomainStartEndE-ValueType
low complexity region 111 120 N/A INTRINSIC
IQ 219 241 7.58e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106547
AA Change: H94Q

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102157
Gene: ENSMUSG00000073856
AA Change: H94Q

DomainStartEndE-ValueType
low complexity region 108 117 N/A INTRINSIC
IQ 216 238 7.58e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000152136
AA Change: W73R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153518
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 T A 15: 11,241,574 (GRCm39) I382N probably damaging Het
Adamts5 T C 16: 85,659,902 (GRCm39) T797A probably damaging Het
Ahr A T 12: 35,554,325 (GRCm39) V598E possibly damaging Het
Akap10 A G 11: 61,806,099 (GRCm39) S210P probably benign Het
Asb5 G T 8: 55,036,582 (GRCm39) probably benign Het
AU041133 T C 10: 81,974,178 (GRCm39) V31A probably damaging Het
Bcar3 T C 3: 122,306,618 (GRCm39) V197A probably benign Het
Bptf A G 11: 106,990,559 (GRCm39) V510A possibly damaging Het
Ccar2 A T 14: 70,377,517 (GRCm39) D712E probably damaging Het
Cenpt G A 8: 106,576,297 (GRCm39) Q85* probably null Het
Ciita C A 16: 10,321,736 (GRCm39) H98N probably damaging Het
Cplane1 A C 15: 8,230,826 (GRCm39) K1034N probably damaging Het
Csn1s1 T A 5: 87,815,152 (GRCm39) M16K probably benign Het
Fah A G 7: 84,242,417 (GRCm39) I297T probably damaging Het
Fbxo25 A G 8: 13,979,423 (GRCm39) N214D probably benign Het
Frem3 A C 8: 81,337,719 (GRCm39) D4A probably benign Het
Gm3409 A G 5: 146,476,334 (GRCm39) K162E probably benign Het
Gxylt1 T C 15: 93,159,656 (GRCm39) D148G possibly damaging Het
Hoxd4 A T 2: 74,558,681 (GRCm39) E168V possibly damaging Het
Ifna6 A G 4: 88,745,695 (GRCm39) S15G possibly damaging Het
Kif16b T A 2: 142,553,789 (GRCm39) E1003V probably damaging Het
Lrp1b G A 2: 40,592,836 (GRCm39) P3761L probably benign Het
Mc4r C T 18: 66,992,597 (GRCm39) C172Y possibly damaging Het
Oosp1 T A 19: 11,664,744 (GRCm39) N104I probably damaging Het
Or2z9 A G 8: 72,854,341 (GRCm39) T246A probably benign Het
Pram1 A T 17: 33,861,117 (GRCm39) I513F probably damaging Het
Pramel18 T C 4: 101,767,125 (GRCm39) S125P probably benign Het
Rasef A G 4: 73,652,771 (GRCm39) S577P probably damaging Het
Rfx8 T C 1: 39,729,333 (GRCm39) D144G possibly damaging Het
Rreb1 A C 13: 38,113,550 (GRCm39) N303T possibly damaging Het
Rrn3 A T 16: 13,617,809 (GRCm39) K351* probably null Het
Sox30 A T 11: 45,908,035 (GRCm39) E734V probably damaging Het
Spns1 C T 7: 125,970,708 (GRCm39) probably null Het
Tgfbr2 T A 9: 115,939,370 (GRCm39) E177D probably benign Het
Tnfaip8l3 A G 9: 53,934,741 (GRCm39) M78T possibly damaging Het
Vmn2r92 C T 17: 18,387,114 (GRCm39) T151I probably damaging Het
Wwc1 A G 11: 35,806,111 (GRCm39) Y41H possibly damaging Het
Zfp407 A T 18: 84,578,922 (GRCm39) N730K probably damaging Het
Other mutations in Iqck
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Iqck APN 7 118,476,901 (GRCm39) missense probably damaging 1.00
IGL02810:Iqck APN 7 118,570,662 (GRCm39) missense possibly damaging 0.94
R0541:Iqck UTSW 7 118,514,817 (GRCm39) missense probably damaging 1.00
R0781:Iqck UTSW 7 118,498,880 (GRCm39) missense possibly damaging 0.77
R0829:Iqck UTSW 7 118,499,111 (GRCm39) critical splice donor site probably null
R0898:Iqck UTSW 7 118,570,664 (GRCm39) missense probably damaging 0.99
R2273:Iqck UTSW 7 118,498,880 (GRCm39) missense possibly damaging 0.77
R2274:Iqck UTSW 7 118,498,880 (GRCm39) missense possibly damaging 0.77
R2275:Iqck UTSW 7 118,498,880 (GRCm39) missense possibly damaging 0.77
R2509:Iqck UTSW 7 118,475,505 (GRCm39) missense probably benign
R4033:Iqck UTSW 7 118,540,827 (GRCm39) missense probably damaging 1.00
R6299:Iqck UTSW 7 118,475,485 (GRCm39) missense unknown
R6520:Iqck UTSW 7 118,540,854 (GRCm39) missense probably damaging 1.00
R7095:Iqck UTSW 7 118,514,814 (GRCm39) missense probably damaging 1.00
R7823:Iqck UTSW 7 118,472,046 (GRCm39) missense probably damaging 1.00
R9038:Iqck UTSW 7 118,498,881 (GRCm39) missense probably damaging 1.00
R9218:Iqck UTSW 7 118,540,902 (GRCm39) missense probably damaging 0.98
Z1176:Iqck UTSW 7 118,540,877 (GRCm39) missense probably benign 0.19
Posted On 2016-08-02