Incidental Mutation 'R8846:Kctd13'
ID 674706
Institutional Source Beutler Lab
Gene Symbol Kctd13
Ensembl Gene ENSMUSG00000030685
Gene Name potassium channel tetramerisation domain containing 13
Synonyms Poldip1, 1500003N18Rik, Pdip1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8846 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 126528051-126544781 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 126544191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 296 (D296E)
Ref Sequence ENSEMBL: ENSMUSP00000032924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032924] [ENSMUST00000052937] [ENSMUST00000106339] [ENSMUST00000106340]
AlphaFold Q8BGV7
Predicted Effect probably benign
Transcript: ENSMUST00000032924
AA Change: D296E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032924
Gene: ENSMUSG00000030685
AA Change: D296E

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 probably benign
Transcript: ENSMUST00000052937
SMART Domains Protein: ENSMUSP00000049848
Gene: ENSMUSG00000046378

DomainStartEndE-ValueType
Pfam:Asp_Arg_Hydrox 1 92 5.5e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106339
SMART Domains Protein: ENSMUSP00000101946
Gene: ENSMUSG00000046378

DomainStartEndE-ValueType
Pfam:Asp_Arg_Hydrox 1 92 5.5e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106340
SMART Domains Protein: ENSMUSP00000101947
Gene: ENSMUSG00000046378

DomainStartEndE-ValueType
transmembrane domain 46 68 N/A INTRINSIC
low complexity region 115 128 N/A INTRINSIC
low complexity region 138 153 N/A INTRINSIC
low complexity region 157 170 N/A INTRINSIC
Pfam:Asp_Arg_Hydrox 191 342 1.4e-41 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,551,610 (GRCm39) I1198F possibly damaging Het
Adgrv1 C T 13: 81,637,025 (GRCm39) probably null Het
Adprh T C 16: 38,267,775 (GRCm39) H170R probably damaging Het
Arhgef10 T C 8: 15,025,956 (GRCm39) V820A probably benign Het
B3galt1 A G 2: 67,948,717 (GRCm39) D144G probably benign Het
Ccdc88a C T 11: 29,414,185 (GRCm39) R908C probably damaging Het
Ccs A G 19: 4,883,480 (GRCm39) L106P probably damaging Het
Dock10 T C 1: 80,545,786 (GRCm39) D820G possibly damaging Het
Gda A G 19: 21,389,889 (GRCm39) I298T probably damaging Het
Gpr84 A T 15: 103,218,037 (GRCm39) H13Q possibly damaging Het
Igdcc4 T C 9: 65,037,898 (GRCm39) S760P probably benign Het
Ighv1-53 A C 12: 115,122,165 (GRCm39) I70S probably damaging Het
Itpr3 T A 17: 27,330,996 (GRCm39) I1768N probably damaging Het
Krt76 A G 15: 101,795,772 (GRCm39) I466T probably damaging Het
Lamb1 T C 12: 31,379,388 (GRCm39) Y1801H possibly damaging Het
Mapk10 A G 5: 103,144,521 (GRCm39) F129L probably damaging Het
Myo5b G A 18: 74,841,043 (GRCm39) E975K probably benign Het
Nrtn C T 17: 57,058,728 (GRCm39) R91H possibly damaging Het
Olfml2a A T 2: 38,850,255 (GRCm39) Y657F probably damaging Het
Or1j21 T A 2: 36,683,689 (GRCm39) V147E probably benign Het
Or4d10c T C 19: 12,065,433 (GRCm39) H241R probably damaging Het
Pfkfb2 T C 1: 130,625,648 (GRCm39) T511A probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pkhd1l1 G T 15: 44,410,358 (GRCm39) G2622* probably null Het
Ppp6r3 A T 19: 3,564,654 (GRCm39) D206E probably damaging Het
Ptpn3 A G 4: 57,205,020 (GRCm39) Y714H probably damaging Het
Rfng C A 11: 120,674,972 (GRCm39) R6L unknown Het
Scrt1 A T 15: 76,405,808 (GRCm39) V33E possibly damaging Het
Siglecg A T 7: 43,061,942 (GRCm39) I563F probably benign Het
Slc1a6 G A 10: 78,637,781 (GRCm39) A436T probably damaging Het
Slc38a9 C A 13: 112,859,814 (GRCm39) S416* probably null Het
Sptbn1 A G 11: 30,075,009 (GRCm39) S1288P possibly damaging Het
Tbce A G 13: 14,194,285 (GRCm39) probably null Het
Tdpoz8 A T 3: 92,981,770 (GRCm39) I189F possibly damaging Het
Topors A G 4: 40,262,952 (GRCm39) F111L probably damaging Het
Vmn1r11 T C 6: 57,114,807 (GRCm39) M157T probably benign Het
Wdfy4 A G 14: 32,867,105 (GRCm39) L459P Het
Zfp738 T C 13: 67,818,155 (GRCm39) N612S probably benign Het
Other mutations in Kctd13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02617:Kctd13 APN 7 126,541,504 (GRCm39) missense possibly damaging 0.64
IGL02890:Kctd13 APN 7 126,529,903 (GRCm39) missense probably benign 0.01
IGL03339:Kctd13 APN 7 126,544,190 (GRCm39) missense probably benign
R5322:Kctd13 UTSW 7 126,528,378 (GRCm39) missense probably damaging 1.00
R6365:Kctd13 UTSW 7 126,529,862 (GRCm39) missense probably damaging 1.00
R7585:Kctd13 UTSW 7 126,528,458 (GRCm39) missense possibly damaging 0.51
R8036:Kctd13 UTSW 7 126,528,414 (GRCm39) missense possibly damaging 0.81
R9153:Kctd13 UTSW 7 126,541,327 (GRCm39) missense probably damaging 1.00
R9311:Kctd13 UTSW 7 126,541,345 (GRCm39) missense probably damaging 1.00
R9459:Kctd13 UTSW 7 126,544,254 (GRCm39) missense probably damaging 0.99
R9610:Kctd13 UTSW 7 126,544,180 (GRCm39) missense probably damaging 1.00
R9611:Kctd13 UTSW 7 126,544,180 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTCTAACTGCCTTTGGGG -3'
(R):5'- GGCTCACTGAAAACAGCATGC -3'

Sequencing Primer
(F):5'- AAGCGCTGTGGGACTGG -3'
(R):5'- ACGACTTGGCCAGCAGAG -3'
Posted On 2021-07-15