Incidental Mutation 'R3949:Kctd8'
ID 307813
Institutional Source Beutler Lab
Gene Symbol Kctd8
Ensembl Gene ENSMUSG00000037653
Gene Name potassium channel tetramerisation domain containing 8
Synonyms A730087N02Rik
MMRRC Submission 040929-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R3949 (G1)
Quality Score 130
Status Validated
Chromosome 5
Chromosomal Location 69266628-69499022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69498617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 10 (G10S)
Ref Sequence ENSEMBL: ENSMUSP00000084484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054095] [ENSMUST00000087231]
AlphaFold Q50H33
Predicted Effect probably benign
Transcript: ENSMUST00000054095
AA Change: G10S

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000055326
Gene: ENSMUSG00000037653
AA Change: G10S

DomainStartEndE-ValueType
low complexity region 21 41 N/A INTRINSIC
BTB 44 154 1.46e-8 SMART
low complexity region 172 204 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000087231
AA Change: G10S

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000084484
Gene: ENSMUSG00000037653
AA Change: G10S

DomainStartEndE-ValueType
low complexity region 21 41 N/A INTRINSIC
BTB 44 154 1.46e-8 SMART
low complexity region 172 204 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175388
Meta Mutation Damage Score 0.0669 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A T 13: 8,620,455 (GRCm39) M314L probably damaging Het
Apcs A G 1: 172,722,259 (GRCm39) F29S probably damaging Het
Arfgef1 CAGAG CAG 1: 10,212,811 (GRCm39) probably null Het
Avl9 T C 6: 56,705,650 (GRCm39) probably null Het
Ccdc38 A G 10: 93,386,081 (GRCm39) M66V probably damaging Het
Cfap46 T C 7: 139,258,467 (GRCm39) K269E probably benign Het
Chrdl2 A C 7: 99,678,412 (GRCm39) E328A possibly damaging Het
D430041D05Rik T C 2: 104,087,713 (GRCm39) N421S probably benign Het
Dbndd1 G T 8: 124,233,473 (GRCm39) Q207K probably benign Het
Disc1 A G 8: 125,814,874 (GRCm39) E246G probably damaging Het
Dyrk4 A G 6: 126,862,268 (GRCm39) I408T probably damaging Het
Entpd7 G A 19: 43,679,597 (GRCm39) R50Q probably benign Het
Fan1 C A 7: 64,021,292 (GRCm39) E591* probably null Het
Fpr1 C A 17: 18,097,191 (GRCm39) C266F probably benign Het
Gata4 C T 14: 63,478,146 (GRCm39) R151H possibly damaging Het
Gipr T C 7: 18,891,354 (GRCm39) N441S probably benign Het
Ino80d G T 1: 63,113,662 (GRCm39) Q263K probably benign Het
Ipo13 A G 4: 117,758,239 (GRCm39) I708T probably benign Het
Iqsec3 A T 6: 121,364,783 (GRCm39) Y835* probably null Het
Lamb1 A C 12: 31,332,648 (GRCm39) K257Q probably damaging Het
Lcp1 A G 14: 75,443,569 (GRCm39) N195S possibly damaging Het
Or4k48 A T 2: 111,475,871 (GRCm39) I157K possibly damaging Het
Or5b121 T C 19: 13,507,384 (GRCm39) S160P probably damaging Het
Paxbp1 T C 16: 90,840,905 (GRCm39) D113G probably damaging Het
Pcdhb7 T C 18: 37,476,141 (GRCm39) S426P probably benign Het
Pcnx4 A G 12: 72,603,076 (GRCm39) D446G probably benign Het
Pkd1 T A 17: 24,797,011 (GRCm39) probably benign Het
Pld2 A G 11: 70,444,180 (GRCm39) D492G probably benign Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Rasgrf1 A C 9: 89,863,797 (GRCm39) probably benign Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Serpinb10 T A 1: 107,468,636 (GRCm39) L170H probably damaging Het
Sfxn4 A G 19: 60,840,501 (GRCm39) Y165H probably damaging Het
Slc32a1 C T 2: 158,453,152 (GRCm39) probably benign Het
Slco5a1 A T 1: 13,059,833 (GRCm39) V296D probably damaging Het
Syn2 T A 6: 115,204,290 (GRCm39) probably null Het
Tbx2 C T 11: 85,729,101 (GRCm39) Q495* probably null Het
Trav6-1 G A 14: 52,875,993 (GRCm39) V8M probably benign Het
Usp7 A T 16: 8,534,428 (GRCm39) N46K probably damaging Het
Vmn2r58 A T 7: 41,513,348 (GRCm39) F432I probably benign Het
Vmn2r99 T C 17: 19,599,252 (GRCm39) M312T probably benign Het
Washc2 T C 6: 116,185,165 (GRCm39) probably benign Het
Yju2b A G 8: 84,985,453 (GRCm39) V272A probably benign Het
Other mutations in Kctd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01935:Kctd8 APN 5 69,497,707 (GRCm39) missense possibly damaging 0.90
IGL02212:Kctd8 APN 5 69,498,031 (GRCm39) missense probably benign 0.00
IGL03276:Kctd8 APN 5 69,497,929 (GRCm39) missense possibly damaging 0.71
R0206:Kctd8 UTSW 5 69,498,508 (GRCm39) missense probably damaging 1.00
R0349:Kctd8 UTSW 5 69,498,353 (GRCm39) missense probably damaging 1.00
R1775:Kctd8 UTSW 5 69,497,903 (GRCm39) missense probably damaging 1.00
R1782:Kctd8 UTSW 5 69,498,319 (GRCm39) missense possibly damaging 0.95
R1820:Kctd8 UTSW 5 69,497,684 (GRCm39) missense probably damaging 1.00
R2199:Kctd8 UTSW 5 69,498,588 (GRCm39) missense probably benign 0.02
R2237:Kctd8 UTSW 5 69,267,752 (GRCm39) missense probably damaging 0.98
R2513:Kctd8 UTSW 5 69,267,988 (GRCm39) missense probably benign
R4418:Kctd8 UTSW 5 69,498,505 (GRCm39) missense probably damaging 1.00
R4722:Kctd8 UTSW 5 69,498,544 (GRCm39) missense possibly damaging 0.93
R4765:Kctd8 UTSW 5 69,498,191 (GRCm39) missense possibly damaging 0.71
R5009:Kctd8 UTSW 5 69,268,076 (GRCm39) missense probably benign 0.01
R5818:Kctd8 UTSW 5 69,454,054 (GRCm39) missense probably benign
R5821:Kctd8 UTSW 5 69,267,828 (GRCm39) missense probably benign 0.20
R6857:Kctd8 UTSW 5 69,454,045 (GRCm39) missense probably benign
R8272:Kctd8 UTSW 5 69,267,803 (GRCm39) missense probably benign 0.02
R8419:Kctd8 UTSW 5 69,497,713 (GRCm39) missense probably damaging 1.00
RF001:Kctd8 UTSW 5 69,267,775 (GRCm39) missense possibly damaging 0.64
Predicted Primers PCR Primer
(F):5'- ACGCTGAGTAACGTCGAATG -3'
(R):5'- GAGGTCCATTCCTGAGAGTCTC -3'

Sequencing Primer
(F):5'- AACGTCGAATGCTTGGTCAC -3'
(R):5'- TGAGAGTCTCTCCCCGATG -3'
Posted On 2015-04-17