Incidental Mutation 'IGL00427:Kctd14'
ID 5204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kctd14
Ensembl Gene ENSMUSG00000051727
Gene Name potassium channel tetramerisation domain containing 14
Synonyms AI449310, D7Ertd760e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # IGL00427
Quality Score
Status
Chromosome 7
Chromosomal Location 97100530-97108764 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 97106919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 111 (A111E)
Ref Sequence ENSEMBL: ENSMUSP00000145558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050732] [ENSMUST00000121987] [ENSMUST00000143321] [ENSMUST00000205577] [ENSMUST00000206279] [ENSMUST00000206658]
AlphaFold A0A0U1RNG7
Predicted Effect possibly damaging
Transcript: ENSMUST00000050732
AA Change: A58E

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000060557
Gene: ENSMUSG00000051727
AA Change: A58E

DomainStartEndE-ValueType
BTB 18 115 4.06e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121987
SMART Domains Protein: ENSMUSP00000113765
Gene: ENSMUSG00000051727

DomainStartEndE-ValueType
BTB 18 115 4.06e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143321
Predicted Effect possibly damaging
Transcript: ENSMUST00000205577
AA Change: A58E

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000206279
AA Change: A90E

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000206658
AA Change: A111E

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A G 12: 4,244,357 (GRCm39) D289G probably damaging Het
Adnp C T 2: 168,024,482 (GRCm39) D938N probably benign Het
Arpin T A 7: 79,577,423 (GRCm39) N208I probably benign Het
Cby3 A G 11: 50,248,638 (GRCm39) probably benign Het
Cmklr2 A T 1: 63,222,497 (GRCm39) I246N probably damaging Het
Cnih4 T A 1: 180,981,312 (GRCm39) S28T probably damaging Het
D130052B06Rik G T 11: 33,573,558 (GRCm39) V97L possibly damaging Het
Dchs1 T C 7: 105,407,631 (GRCm39) E2067G probably damaging Het
Dennd6a C T 14: 26,329,768 (GRCm39) T113I probably damaging Het
Dock4 T A 12: 40,882,305 (GRCm39) F1590L possibly damaging Het
Dop1a G T 9: 86,403,553 (GRCm39) Q1582H probably benign Het
Dop1a A T 9: 86,403,552 (GRCm39) Q1582L probably damaging Het
Dop1a C A 9: 86,403,551 (GRCm39) Q1582K possibly damaging Het
Ebna1bp2 A T 4: 118,483,018 (GRCm39) K291M probably damaging Het
Evpl G T 11: 116,125,331 (GRCm39) Q73K probably benign Het
Fam131b G T 6: 42,295,895 (GRCm39) T139K probably damaging Het
Golga3 A G 5: 110,368,753 (GRCm39) T1358A probably damaging Het
Hgf G A 5: 16,783,484 (GRCm39) D265N probably benign Het
Homer1 A G 13: 93,538,622 (GRCm39) N333S probably benign Het
Igkv17-134 A T 6: 67,697,968 (GRCm39) probably benign Het
Il16 T C 7: 83,301,666 (GRCm39) D152G probably benign Het
Ireb2 T C 9: 54,806,766 (GRCm39) probably benign Het
Itgb2 C T 10: 77,393,790 (GRCm39) T410I probably benign Het
Lmod3 A C 6: 97,229,258 (GRCm39) V92G probably damaging Het
Lmtk2 A G 5: 144,070,973 (GRCm39) D83G probably damaging Het
Myh1 A G 11: 67,111,691 (GRCm39) E1682G probably damaging Het
Myo9a T A 9: 59,750,342 (GRCm39) probably benign Het
Nlrc4 T C 17: 74,754,087 (GRCm39) N99D probably benign Het
P2rx3 A G 2: 84,865,616 (GRCm39) Y10H probably damaging Het
Pcsk7 C A 9: 45,838,958 (GRCm39) D623E probably benign Het
Plxna1 A G 6: 89,297,980 (GRCm39) I1766T probably damaging Het
Ptk7 T C 17: 46,885,353 (GRCm39) Y691C probably damaging Het
Rec8 A T 14: 55,856,108 (GRCm39) T17S probably damaging Het
Rtraf-ps A C 3: 88,484,230 (GRCm39) probably benign Het
Ryr1 T C 7: 28,804,162 (GRCm39) probably benign Het
Scg3 T G 9: 75,570,519 (GRCm39) K345T probably damaging Het
Serpina3b A T 12: 104,099,200 (GRCm39) K238N probably benign Het
Slc38a9 T A 13: 112,838,152 (GRCm39) S306T probably damaging Het
Txndc16 A G 14: 45,382,547 (GRCm39) probably benign Het
Vmn1r238 T A 18: 3,123,243 (GRCm39) Y57F probably benign Het
Vmn2r104 A T 17: 20,258,501 (GRCm39) S548T probably damaging Het
Xrcc1 T A 7: 24,247,309 (GRCm39) probably null Het
Other mutations in Kctd14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1525:Kctd14 UTSW 7 97,107,074 (GRCm39) missense probably benign 0.02
R1853:Kctd14 UTSW 7 97,102,631 (GRCm39) missense possibly damaging 0.95
R4772:Kctd14 UTSW 7 97,106,883 (GRCm39) missense probably damaging 0.99
R6093:Kctd14 UTSW 7 97,104,160 (GRCm39) intron probably benign
R6234:Kctd14 UTSW 7 97,107,219 (GRCm39) missense probably damaging 1.00
R7283:Kctd14 UTSW 7 97,100,693 (GRCm39) start codon destroyed probably null
R7480:Kctd14 UTSW 7 97,107,431 (GRCm39) missense probably benign 0.00
R7736:Kctd14 UTSW 7 97,107,147 (GRCm39) missense probably damaging 1.00
R7940:Kctd14 UTSW 7 97,106,891 (GRCm39) missense probably damaging 0.98
R8399:Kctd14 UTSW 7 97,106,811 (GRCm39) missense probably damaging 1.00
R8745:Kctd14 UTSW 7 97,107,445 (GRCm39) nonsense probably null
R9109:Kctd14 UTSW 7 97,107,243 (GRCm39) missense probably benign 0.00
R9230:Kctd14 UTSW 7 97,104,104 (GRCm39) missense unknown
R9298:Kctd14 UTSW 7 97,107,243 (GRCm39) missense probably benign 0.00
Posted On 2012-04-20