Incidental Mutation 'IGL02890:Kctd13'
ID363137
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kctd13
Ensembl Gene ENSMUSG00000030685
Gene Namepotassium channel tetramerisation domain containing 13
SynonymsPdip1, Poldip1, 1500003N18Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02890
Quality Score
Status
Chromosome7
Chromosomal Location126928879-126945631 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 126930731 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 115 (G115R)
Ref Sequence ENSEMBL: ENSMUSP00000032924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032924]
Predicted Effect probably benign
Transcript: ENSMUST00000032924
AA Change: G115R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000032924
Gene: ENSMUSG00000030685
AA Change: G115R

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 18 32 N/A INTRINSIC
BTB 41 141 6.48e-15 SMART
low complexity region 276 314 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141369
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced synaptic transmission, abnormal hippocampal pyramidal neuron dendrite morphology, and hyperactivity with no detectable changes in body weight, brain size or neurogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900055J20Rik A G 18: 40,257,027 probably benign Het
Adam39 A T 8: 40,825,153 I194L probably benign Het
Akirin1 A G 4: 123,738,062 V171A probably damaging Het
Camk2b A T 11: 6,001,340 D91E possibly damaging Het
Ccser1 A G 6: 62,379,831 D751G probably damaging Het
D6Wsu163e G A 6: 126,974,487 G500D probably damaging Het
Dchs1 G T 7: 105,756,491 D2395E probably damaging Het
Fam189b A T 3: 89,186,782 T223S possibly damaging Het
Fat3 T C 9: 15,915,340 T4439A probably benign Het
Fn1 A G 1: 71,598,372 probably null Het
Galnt14 A C 17: 73,509,524 probably null Het
Gemin4 A C 11: 76,211,264 S890R probably damaging Het
Glrp1 T A 1: 88,509,788 probably null Het
Grik1 A G 16: 87,896,802 probably benign Het
Hist1h2bm G T 13: 21,722,186 R30L probably benign Het
Hspa12a C T 19: 58,820,999 probably null Het
Hykk C T 9: 54,920,711 P78L probably benign Het
Ltn1 C T 16: 87,409,297 probably null Het
Mat2a A G 6: 72,436,246 L167P probably damaging Het
Myo6 A G 9: 80,266,174 E532G probably damaging Het
Nrbp2 G T 15: 76,089,457 L272M probably damaging Het
Nrd1 A G 4: 109,053,919 D790G possibly damaging Het
Olfr1507 T A 14: 52,490,911 T18S probably benign Het
Olfr180 T C 16: 58,916,374 D89G probably benign Het
Olfr943 T C 9: 39,184,268 L27P probably damaging Het
Pcdh10 A T 3: 45,392,617 H949L probably damaging Het
Pikfyve A G 1: 65,230,797 Y547C probably benign Het
Pkhd1 A T 1: 20,361,011 V2392D probably damaging Het
Ppp1r3g A T 13: 35,969,331 T245S probably damaging Het
Prkaa1 A G 15: 5,177,086 N439S possibly damaging Het
Radil A G 5: 142,543,708 Y78H probably damaging Het
Ric8b A T 10: 85,001,867 M513L possibly damaging Het
Slc4a10 T C 2: 62,286,916 S740P probably damaging Het
Slc5a12 T C 2: 110,624,133 probably benign Het
Smg1 G A 7: 118,185,501 probably benign Het
Spef2 C T 15: 9,748,767 M1I probably null Het
Tmc5 A T 7: 118,645,430 probably benign Het
Tpp2 C T 1: 43,999,690 A1132V probably damaging Het
Ttll4 A T 1: 74,687,339 K699* probably null Het
Other mutations in Kctd13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02617:Kctd13 APN 7 126942332 missense possibly damaging 0.64
IGL03339:Kctd13 APN 7 126945018 missense probably benign
R5322:Kctd13 UTSW 7 126929206 missense probably damaging 1.00
R6365:Kctd13 UTSW 7 126930690 missense probably damaging 1.00
R7585:Kctd13 UTSW 7 126929286 missense possibly damaging 0.51
R8036:Kctd13 UTSW 7 126929242 missense possibly damaging 0.81
Posted On2015-12-18