Incidental Mutation 'IGL03274:Kctd2'
ID 415351
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kctd2
Ensembl Gene ENSMUSG00000016940
Gene Name potassium channel tetramerisation domain containing 2
Synonyms 2310012I15Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.533) question?
Stock # IGL03274
Quality Score
Status
Chromosome 11
Chromosomal Location 115310954-115322100 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 115320208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 247 (I247L)
Ref Sequence ENSEMBL: ENSMUSP00000099324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103035] [ENSMUST00000106533]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000103035
AA Change: I247L

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099324
Gene: ENSMUSG00000016940
AA Change: I247L

DomainStartEndE-ValueType
low complexity region 8 43 N/A INTRINSIC
low complexity region 46 71 N/A INTRINSIC
BTB 72 175 3.45e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106533
AA Change: I247L

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102143
Gene: ENSMUSG00000016940
AA Change: I247L

DomainStartEndE-ValueType
low complexity region 8 43 N/A INTRINSIC
low complexity region 46 71 N/A INTRINSIC
BTB 72 175 3.45e-19 SMART
Predicted Effect unknown
Transcript: ENSMUST00000123345
AA Change: I242L
SMART Domains Protein: ENSMUSP00000115862
Gene: ENSMUSG00000016940
AA Change: I242L

DomainStartEndE-ValueType
low complexity region 4 39 N/A INTRINSIC
low complexity region 42 67 N/A INTRINSIC
BTB 68 171 3.45e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143775
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adissp A T 2: 130,995,512 (GRCm39) probably null Het
Anln C A 9: 22,293,565 (GRCm39) R26M probably damaging Het
Capn15 A T 17: 26,180,812 (GRCm39) S753T probably damaging Het
Ccdc62 A G 5: 124,092,743 (GRCm39) N576S probably benign Het
Csmd3 T C 15: 47,508,900 (GRCm39) D2895G probably damaging Het
Dspp T A 5: 104,322,814 (GRCm39) V37E probably damaging Het
Efcab3 A T 11: 104,611,919 (GRCm39) D587V probably benign Het
Efcab6 T C 15: 83,752,450 (GRCm39) D1473G probably damaging Het
Ehhadh T C 16: 21,582,090 (GRCm39) probably benign Het
Fbln1 T C 15: 85,116,879 (GRCm39) probably null Het
Gbp9 A G 5: 105,230,652 (GRCm39) V424A possibly damaging Het
Gda T C 19: 21,394,371 (GRCm39) Y236C possibly damaging Het
Gm4884 A G 7: 40,693,969 (GRCm39) E646G probably damaging Het
Gm4952 C A 19: 12,600,960 (GRCm39) probably benign Het
Gm5422 G T 10: 31,126,348 (GRCm39) noncoding transcript Het
Grin2b C T 6: 135,757,253 (GRCm39) D403N possibly damaging Het
Hsf2bp G A 17: 32,226,744 (GRCm39) R204C probably damaging Het
Il16 T C 7: 83,310,442 (GRCm39) E488G probably damaging Het
Kat6b G T 14: 21,659,831 (GRCm39) D212Y possibly damaging Het
Kel T A 6: 41,664,929 (GRCm39) probably null Het
Krt20 A T 11: 99,320,855 (GRCm39) probably benign Het
Litaf T C 16: 10,784,433 (GRCm39) T26A probably damaging Het
N4bp2l2 G T 5: 150,584,931 (GRCm39) Q350K probably damaging Het
Nav2 T G 7: 49,011,847 (GRCm39) I26S probably damaging Het
Nfya A G 17: 48,698,375 (GRCm39) Y162H probably damaging Het
Or2g25 C T 17: 37,970,646 (GRCm39) A193T probably benign Het
Pbx4 A T 8: 70,319,200 (GRCm39) S244C probably damaging Het
Pcdhb16 T C 18: 37,612,285 (GRCm39) V415A probably benign Het
Rbbp8 A G 18: 11,874,133 (GRCm39) probably benign Het
Sp100 T C 1: 85,635,025 (GRCm39) probably benign Het
Spag16 A G 1: 69,883,540 (GRCm39) probably benign Het
Star A G 8: 26,301,082 (GRCm39) D138G possibly damaging Het
Other mutations in Kctd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02831:Kctd2 APN 11 115,321,166 (GRCm39) makesense probably null
R0066:Kctd2 UTSW 11 115,320,343 (GRCm39) intron probably benign
R0066:Kctd2 UTSW 11 115,320,343 (GRCm39) intron probably benign
R3888:Kctd2 UTSW 11 115,318,345 (GRCm39) missense probably damaging 1.00
R4393:Kctd2 UTSW 11 115,320,326 (GRCm39) intron probably benign
R4868:Kctd2 UTSW 11 115,320,205 (GRCm39) missense probably damaging 0.99
R7248:Kctd2 UTSW 11 115,312,845 (GRCm39) missense possibly damaging 0.46
R8254:Kctd2 UTSW 11 115,311,174 (GRCm39) missense unknown
R8485:Kctd2 UTSW 11 115,320,434 (GRCm39) intron probably benign
R8527:Kctd2 UTSW 11 115,320,310 (GRCm39) intron probably benign
R8542:Kctd2 UTSW 11 115,320,310 (GRCm39) intron probably benign
R8768:Kctd2 UTSW 11 115,311,279 (GRCm39) missense probably damaging 1.00
R9429:Kctd2 UTSW 11 115,318,277 (GRCm39) missense probably damaging 1.00
Z1088:Kctd2 UTSW 11 115,312,813 (GRCm39) missense possibly damaging 0.93
Posted On 2016-08-02