Incidental Mutation 'R2413:Kctd12'
ID476310
Institutional Source Beutler Lab
Gene Symbol Kctd12
Ensembl Gene ENSMUSG00000098557
Gene Namepotassium channel tetramerisation domain containing 12
SynonymsPfet1, Pfetin
MMRRC Submission 040377-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.600) question?
Stock #R2413 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location102976581-102982637 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 102982167 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 92 (I92F)
Ref Sequence ENSEMBL: ENSMUSP00000139261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000184744]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183756
Predicted Effect probably damaging
Transcript: ENSMUST00000184744
AA Change: I92F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139261
Gene: ENSMUSG00000098557
AA Change: I92F

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
BTB 34 137 1.91e-3 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased fear learning of a discrete auditory-conditioned stimulus, increased activity during the inactive (light) phase and increased intrinsic excitability of pyramidal neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 G T 8: 88,309,818 A168S probably benign Het
Aspm A C 1: 139,477,757 I1461L probably damaging Het
Bcas3 C T 11: 85,531,855 L517F probably damaging Het
Brpf3 T C 17: 28,805,950 probably benign Het
Cfap74 A C 4: 155,418,624 R24S possibly damaging Het
Clec1a T A 6: 129,435,255 S51C probably damaging Het
Cyp2c40 G T 19: 39,803,887 C204* probably null Het
Dgki C A 6: 36,847,473 R1040L possibly damaging Het
F830016B08Rik T A 18: 60,300,293 Y149* probably null Het
Fam43b G C 4: 138,395,098 R304G probably benign Het
Frmpd1 A T 4: 45,278,969 T565S probably benign Het
Heatr5b A T 17: 78,756,861 probably null Het
Ipcef1 G A 10: 6,935,225 P92S probably damaging Het
Kntc1 C T 5: 123,764,149 T285I probably benign Het
Lipo2 A T 19: 33,751,257 N32K probably damaging Het
Mier3 T C 13: 111,715,128 probably benign Het
Myd88 T C 9: 119,337,418 T277A probably benign Het
Myo3a T A 2: 22,577,912 Y1331N probably benign Het
Neb C A 2: 52,210,632 W4422L probably damaging Het
Nfasc A G 1: 132,595,505 S1019P probably damaging Het
Npepps T C 11: 97,240,966 E354G probably damaging Het
Ntrk2 G T 13: 58,874,412 R427L possibly damaging Het
Olfr578 A G 7: 102,984,802 S121P probably damaging Het
Ptprd T A 4: 76,133,200 D262V probably damaging Het
Serpina9 C T 12: 104,001,226 probably null Het
Setd2 A G 9: 110,547,504 E129G probably damaging Het
Slc29a1 A G 17: 45,585,717 L444P probably damaging Het
Synj2 C A 17: 6,028,574 P217T probably damaging Het
Tex52 T C 6: 128,379,908 L188P probably damaging Het
Tmem63a A G 1: 180,961,075 M326V probably benign Het
Tnxb A G 17: 34,718,278 T2900A probably damaging Het
Other mutations in Kctd12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3035:Kctd12 UTSW 14 102981506 missense possibly damaging 0.93
R5057:Kctd12 UTSW 14 102981609 missense possibly damaging 0.92
R5537:Kctd12 UTSW 14 102982277 missense probably benign 0.06
R6180:Kctd12 UTSW 14 102981591 missense probably damaging 1.00
R6659:Kctd12 UTSW 14 102982186 missense probably damaging 1.00
R6850:Kctd12 UTSW 14 102981978 missense probably benign 0.02
R7188:Kctd12 UTSW 14 102981794 missense probably benign 0.18
Z1176:Kctd12 UTSW 14 102981918 missense not run
Z1177:Kctd12 UTSW 14 102981918 missense not run
Predicted Primers
Posted On2017-05-11