Incidental Mutation 'R6642:Kctd20'
ID 525888
Institutional Source Beutler Lab
Gene Symbol Kctd20
Ensembl Gene ENSMUSG00000005936
Gene Name potassium channel tetramerisation domain containing 20
Synonyms D17Ertd562e, 2410004N11Rik
MMRRC Submission 044763-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R6642 (G1)
Quality Score 222.009
Status Validated
Chromosome 17
Chromosomal Location 29171420-29188523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29180640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 138 (H138L)
Ref Sequence ENSEMBL: ENSMUSP00000131435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057174] [ENSMUST00000117672] [ENSMUST00000118762] [ENSMUST00000122163] [ENSMUST00000153462] [ENSMUST00000153831] [ENSMUST00000168507]
AlphaFold Q8CDD8
Predicted Effect probably damaging
Transcript: ENSMUST00000057174
AA Change: H138L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062282
Gene: ENSMUSG00000005936
AA Change: H138L

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
low complexity region 101 110 N/A INTRINSIC
BTB 117 222 1.77e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117672
AA Change: H67L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113740
Gene: ENSMUSG00000005936
AA Change: H67L

DomainStartEndE-ValueType
low complexity region 30 39 N/A INTRINSIC
BTB 46 151 1.77e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118762
AA Change: H67L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112890
Gene: ENSMUSG00000005936
AA Change: H67L

DomainStartEndE-ValueType
low complexity region 30 39 N/A INTRINSIC
BTB 46 151 1.77e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122163
AA Change: H138L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112957
Gene: ENSMUSG00000005936
AA Change: H138L

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
low complexity region 101 110 N/A INTRINSIC
BTB 117 222 1.77e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150858
Predicted Effect possibly damaging
Transcript: ENSMUST00000153462
AA Change: H67L

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120301
Gene: ENSMUSG00000005936
AA Change: H67L

DomainStartEndE-ValueType
low complexity region 30 39 N/A INTRINSIC
BTB 46 151 1.77e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000153831
AA Change: H67L

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122690
Gene: ENSMUSG00000005936
AA Change: H67L

DomainStartEndE-ValueType
low complexity region 30 39 N/A INTRINSIC
BTB 46 151 1.77e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168507
AA Change: H138L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131435
Gene: ENSMUSG00000005936
AA Change: H138L

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
low complexity region 101 110 N/A INTRINSIC
BTB 117 222 1.77e-7 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T A 2: 152,282,790 (GRCm39) V215D probably damaging Het
Ablim1 A G 19: 57,119,284 (GRCm39) S267P probably benign Het
Adcy2 C T 13: 68,768,945 (GRCm39) C1061Y probably damaging Het
Aip C A 19: 4,165,149 (GRCm39) C240F probably damaging Het
Aldh1a2 A T 9: 71,160,268 (GRCm39) D98V probably damaging Het
Arhgef40 T C 14: 52,228,419 (GRCm39) probably benign Het
Cplx2 G T 13: 54,526,736 (GRCm39) R48L probably damaging Het
Ctrl C T 8: 106,659,451 (GRCm39) probably null Het
Dnhd1 A G 7: 105,353,006 (GRCm39) T2720A probably benign Het
Fzd1 A G 5: 4,805,696 (GRCm39) Y629H probably damaging Het
Gins1 T C 2: 150,770,038 (GRCm39) probably null Het
Gpr149 C T 3: 62,437,995 (GRCm39) A721T probably damaging Het
Helb A T 10: 119,920,835 (GRCm39) M1036K probably benign Het
Il16 A G 7: 83,337,335 (GRCm39) F127L probably benign Het
Kctd9 T A 14: 67,962,122 (GRCm39) L55* probably null Het
Marf1 C T 16: 13,950,611 (GRCm39) R925H probably benign Het
Mbip A T 12: 56,389,191 (GRCm39) probably benign Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nod1 T G 6: 54,925,014 (GRCm39) D99A probably damaging Het
Olfm4 A G 14: 80,259,107 (GRCm39) K419E probably damaging Het
Or6c214 A T 10: 129,591,232 (GRCm39) L29Q probably damaging Het
Pik3r4 A G 9: 105,521,845 (GRCm39) D137G probably benign Het
Prdm4 T C 10: 85,743,682 (GRCm39) E191G probably benign Het
Rassf10 A T 7: 112,554,784 (GRCm39) T462S probably benign Het
Rundc3b A T 5: 8,629,071 (GRCm39) I110N probably damaging Het
Sgsm3 C T 15: 80,893,901 (GRCm39) R479C probably damaging Het
Tmc7 A T 7: 118,144,834 (GRCm39) Y575* probably null Het
Trim33 T C 3: 103,244,830 (GRCm39) L310S probably damaging Het
Trpm2 C T 10: 77,773,660 (GRCm39) R585Q probably benign Het
Ttn T C 2: 76,565,740 (GRCm39) E28204G probably damaging Het
Vmn1r233 A T 17: 21,214,002 (GRCm39) L316Q probably damaging Het
Vmn2r110 A T 17: 20,803,779 (GRCm39) N265K possibly damaging Het
Xylb A G 9: 119,196,559 (GRCm39) H114R probably damaging Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C probably damaging Het
Other mutations in Kctd20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02218:Kctd20 APN 17 29,176,877 (GRCm39) missense probably benign 0.36
IGL02253:Kctd20 APN 17 29,180,460 (GRCm39) missense probably benign 0.12
R0839:Kctd20 UTSW 17 29,176,872 (GRCm39) start codon destroyed possibly damaging 0.79
R1270:Kctd20 UTSW 17 29,185,905 (GRCm39) missense possibly damaging 0.87
R1768:Kctd20 UTSW 17 29,185,755 (GRCm39) missense probably damaging 1.00
R1768:Kctd20 UTSW 17 29,181,824 (GRCm39) missense probably damaging 1.00
R4797:Kctd20 UTSW 17 29,185,766 (GRCm39) missense probably damaging 1.00
R5990:Kctd20 UTSW 17 29,185,884 (GRCm39) missense probably benign 0.01
R6799:Kctd20 UTSW 17 29,182,351 (GRCm39) splice site probably null
R6938:Kctd20 UTSW 17 29,180,555 (GRCm39) missense probably benign
R7393:Kctd20 UTSW 17 29,182,312 (GRCm39) missense probably damaging 1.00
R7862:Kctd20 UTSW 17 29,181,849 (GRCm39) missense probably damaging 1.00
R8050:Kctd20 UTSW 17 29,171,732 (GRCm39) critical splice donor site probably null
R8725:Kctd20 UTSW 17 29,184,025 (GRCm39) nonsense probably null
R8727:Kctd20 UTSW 17 29,184,025 (GRCm39) nonsense probably null
R9171:Kctd20 UTSW 17 29,185,866 (GRCm39) missense probably damaging 1.00
R9602:Kctd20 UTSW 17 29,180,442 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AACAAGGGCTCATGCTTCCAG -3'
(R):5'- AAACAGCGGGACTTAGGTCTC -3'

Sequencing Primer
(F):5'- GCTCATGCTTCCAGAGTGG -3'
(R):5'- TCTGACCTTTGCAACTCAGAGAG -3'
Posted On 2018-06-22