Incidental Mutation 'IGL01620:Iqck'
ID 92510
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 # IGL01620
Quality Score
Status
Chromosome 7
Chromosomal Location 118454975-118571343 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118476901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 154 (K154M)
Ref Sequence ENSEMBL: ENSMUSP00000102157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098087] [ENSMUST00000106547] [ENSMUST00000152136]
AlphaFold D3YYL3
Predicted Effect probably damaging
Transcript: ENSMUST00000098087
AA Change: K157M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095693
Gene: ENSMUSG00000073856
AA Change: K157M

DomainStartEndE-ValueType
low complexity region 111 120 N/A INTRINSIC
IQ 219 241 7.58e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106547
AA Change: K154M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102157
Gene: ENSMUSG00000073856
AA Change: K154M

DomainStartEndE-ValueType
low complexity region 108 117 N/A INTRINSIC
IQ 216 238 7.58e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000152136
AA Change: K132N
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A T 15: 102,248,385 (GRCm39) V277D probably damaging Het
Akap9 T A 5: 4,010,218 (GRCm39) V325D probably benign Het
Ambra1 A G 2: 91,741,757 (GRCm39) probably null Het
Ano9 A G 7: 140,690,352 (GRCm39) L94P probably damaging Het
Atad3a G T 4: 155,830,535 (GRCm39) T521K probably damaging Het
Bckdk A G 7: 127,504,948 (GRCm39) K126E possibly damaging Het
Bdp1 A T 13: 100,220,713 (GRCm39) probably benign Het
Btbd17 T C 11: 114,686,599 (GRCm39) T26A probably benign Het
Cadps2 G A 6: 23,587,461 (GRCm39) S314L probably benign Het
Ccl8 A T 11: 82,007,435 (GRCm39) Q90L probably damaging Het
Chit1 T C 1: 134,078,257 (GRCm39) V355A probably damaging Het
Col17a1 A G 19: 47,656,978 (GRCm39) I555T possibly damaging Het
Dmwd T A 7: 18,815,159 (GRCm39) probably null Het
Dtna T C 18: 23,758,144 (GRCm39) I483T probably damaging Het
Eloc T A 1: 16,713,502 (GRCm39) probably benign Het
Emc7 T A 2: 112,295,119 (GRCm39) L177H probably damaging Het
Emsy T A 7: 98,275,831 (GRCm39) K352I probably damaging Het
Ermn T C 2: 57,942,502 (GRCm39) E76G probably benign Het
Flot1 A T 17: 36,140,763 (GRCm39) E203V possibly damaging Het
Hsd11b2 A G 8: 106,249,529 (GRCm39) K266R probably benign Het
Itgb5 T A 16: 33,740,168 (GRCm39) V426E probably damaging Het
Kash5 T C 7: 44,839,384 (GRCm39) D359G probably damaging Het
Kif13a T C 13: 47,018,296 (GRCm39) K53R probably benign Het
Klhl2 A T 8: 65,232,772 (GRCm39) H168Q probably damaging Het
Lpcat2b T C 5: 107,581,759 (GRCm39) Y363H probably damaging Het
Lrp6 A T 6: 134,488,225 (GRCm39) N290K probably damaging Het
Map2k3 T C 11: 60,840,873 (GRCm39) F301L possibly damaging Het
Mns1 A G 9: 72,364,195 (GRCm39) probably benign Het
Nos1 A G 5: 118,043,374 (GRCm39) probably null Het
Or1j17 T A 2: 36,578,550 (GRCm39) C179S probably damaging Het
Or52h7 T A 7: 104,214,220 (GRCm39) V264D probably damaging Het
Pask A T 1: 93,237,844 (GRCm39) H1374Q possibly damaging Het
Pik3r1 G A 13: 101,822,728 (GRCm39) A658V probably damaging Het
Ppp2r2a A T 14: 67,307,726 (GRCm39) F14I probably damaging Het
Ptprc C T 1: 137,996,148 (GRCm39) E904K possibly damaging Het
Rab11fip4 G T 11: 79,582,705 (GRCm39) D591Y possibly damaging Het
Rab3gap2 A G 1: 184,936,523 (GRCm39) T29A probably benign Het
Rgs19 A G 2: 181,331,381 (GRCm39) V84A possibly damaging Het
Shisa6 T G 11: 66,108,705 (GRCm39) M391L probably benign Het
Sipa1l1 G A 12: 82,469,263 (GRCm39) G1254D probably damaging Het
Slfn8 A T 11: 82,895,059 (GRCm39) Y358* probably null Het
Taf3 G T 2: 9,957,472 (GRCm39) R232S probably benign Het
Terb2 T A 2: 122,035,338 (GRCm39) H186Q possibly damaging Het
Trav13n-4 T C 14: 53,601,473 (GRCm39) S81P probably damaging Het
Trim30d G T 7: 104,121,333 (GRCm39) P321T possibly damaging Het
Tyrp1 G T 4: 80,763,039 (GRCm39) G309* probably null Het
Vps13d C A 4: 144,821,437 (GRCm39) G2979V possibly damaging Het
Other mutations in Iqck
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02810:Iqck APN 7 118,570,662 (GRCm39) missense possibly damaging 0.94
IGL03403:Iqck APN 7 118,475,494 (GRCm39) missense probably benign 0.21
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 2013-12-09