Incidental Mutation 'R7862:Kctd20'
ID 607615
Institutional Source Beutler Lab
Gene Symbol Kctd20
Ensembl Gene ENSMUSG00000005936
Gene Name potassium channel tetramerisation domain containing 20
Synonyms D17Ertd562e, 2410004N11Rik
MMRRC Submission 045915-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R7862 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 29171420-29188523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 29181849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 167 (A167V)
Ref Sequence ENSEMBL: ENSMUSP00000062282 (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: A167V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062282
Gene: ENSMUSG00000005936
AA Change: A167V

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: A96V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113740
Gene: ENSMUSG00000005936
AA Change: A96V

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: A96V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112890
Gene: ENSMUSG00000005936
AA Change: A96V

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: A167V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112957
Gene: ENSMUSG00000005936
AA Change: A167V

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: ENSMUST00000153462
AA Change: A96V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120301
Gene: ENSMUSG00000005936
AA Change: A96V

DomainStartEndE-ValueType
low complexity region 30 39 N/A INTRINSIC
BTB 46 151 1.77e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000153831
AA Change: A96V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122690
Gene: ENSMUSG00000005936
AA Change: A96V

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: A167V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131435
Gene: ENSMUSG00000005936
AA Change: A167V

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A C 3: 145,649,624 (GRCm39) *181S probably null Het
Abcc10 G T 17: 46,626,458 (GRCm39) S661* probably null Het
Abtb2 C T 2: 103,532,626 (GRCm39) R475W probably damaging Het
Cep97 T C 16: 55,726,084 (GRCm39) D673G probably benign Het
Chaf1b T C 16: 93,684,983 (GRCm39) M144T possibly damaging Het
Chd8 T C 14: 52,451,734 (GRCm39) D1372G probably damaging Het
Chmp6 G A 11: 119,807,836 (GRCm39) probably null Het
Cst12 T C 2: 148,631,495 (GRCm39) V72A probably damaging Het
D1Pas1 G A 1: 186,700,349 (GRCm39) G93R probably damaging Het
Dhx34 C A 7: 15,944,448 (GRCm39) V589F probably damaging Het
Dlg5 G A 14: 24,295,280 (GRCm39) P80L probably damaging Het
Dmrta1 C A 4: 89,576,561 (GRCm39) H6N probably benign Het
Dop1b T C 16: 93,546,851 (GRCm39) L285P probably damaging Het
Dpy19l1 T C 9: 24,386,730 (GRCm39) Y188C probably damaging Het
Ehbp1l1 C T 19: 5,770,851 (GRCm39) R230Q probably benign Het
Ep300 T G 15: 81,534,954 (GRCm39) V2337G probably damaging Het
Fh1 A T 1: 175,442,400 (GRCm39) V150E probably damaging Het
Fkbp11 G A 15: 98,624,389 (GRCm39) R122* probably null Het
Fkbp5 C T 17: 28,631,013 (GRCm39) E251K probably damaging Het
Fmnl1 A G 11: 103,071,756 (GRCm39) K88E probably damaging Het
Frrs1 T C 3: 116,685,529 (GRCm39) V300A possibly damaging Het
Glud1 T G 14: 34,047,479 (GRCm39) L198V possibly damaging Het
Gsdmc A T 15: 63,649,845 (GRCm39) W349R possibly damaging Het
Hacd1 T C 2: 14,050,013 (GRCm39) H64R probably damaging Het
Haus2 T A 2: 120,443,570 (GRCm39) D75E probably benign Het
Hmcn1 A T 1: 150,682,172 (GRCm39) F459L probably damaging Het
Ighe A T 12: 113,235,428 (GRCm39) V272E Het
Iqgap1 C T 7: 80,393,636 (GRCm39) R647H probably benign Het
Jmy T C 13: 93,635,703 (GRCm39) I38V possibly damaging Het
Kcnh1 G T 1: 191,873,167 (GRCm39) probably benign Het
Klhl38 A T 15: 58,178,395 (GRCm39) V525E probably damaging Het
Krit1 A G 5: 3,862,788 (GRCm39) D259G probably damaging Het
Med1 A T 11: 98,052,036 (GRCm39) C443S probably benign Het
Mllt6 T C 11: 97,556,631 (GRCm39) V107A probably benign Het
Myl7 A G 11: 5,847,157 (GRCm39) M132T probably benign Het
Myo10 T C 15: 25,666,522 (GRCm39) V11A probably damaging Het
Nipbl T C 15: 8,355,236 (GRCm39) I1642V probably benign Het
Or4a47 T C 2: 89,665,468 (GRCm39) T274A probably benign Het
Or6c214 T C 10: 129,591,224 (GRCm39) T32A probably benign Het
Or7g25 C A 9: 19,160,736 (GRCm39) probably benign Het
Or8b3b C T 9: 38,584,624 (GRCm39) V39M probably benign Het
Pcdhb2 C T 18: 37,429,113 (GRCm39) A362V probably benign Het
Pnp2 A T 14: 51,201,016 (GRCm39) D167V possibly damaging Het
Rasa1 G A 13: 85,403,530 (GRCm39) T282I probably damaging Het
Rp1l1 A G 14: 64,265,476 (GRCm39) D354G probably damaging Het
Rpap1 C T 2: 119,605,893 (GRCm39) probably null Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Shank3 A G 15: 89,389,648 (GRCm39) D415G possibly damaging Het
Slc12a1 A G 2: 125,003,014 (GRCm39) I182V probably damaging Het
Slc6a13 A G 6: 121,312,589 (GRCm39) Y441C probably damaging Het
Sltm G T 9: 70,479,446 (GRCm39) E193* probably null Het
Spag9 T C 11: 94,002,892 (GRCm39) I1134T possibly damaging Het
Spta1 G A 1: 174,025,351 (GRCm39) probably null Het
Stk3 A G 15: 35,115,732 (GRCm39) V29A possibly damaging Het
Tgfbr1 A T 4: 47,403,489 (GRCm39) I365F probably damaging Het
Thpo C T 16: 20,547,540 (GRCm39) V24I probably benign Het
Tle1 A C 4: 72,117,552 (GRCm39) L36R probably damaging Het
Togaram2 T C 17: 71,996,168 (GRCm39) V57A probably benign Het
Ttll9 C T 2: 152,848,895 (GRCm39) A459V probably benign Het
Ush1c T C 7: 45,870,848 (GRCm39) I330V probably damaging Het
Usp34 T C 11: 23,414,718 (GRCm39) M2906T Het
Vmn2r28 A T 7: 5,493,613 (GRCm39) M111K probably benign Het
Vmn2r97 T C 17: 19,167,416 (GRCm39) C557R probably damaging Het
Zfp873 T A 10: 81,896,109 (GRCm39) I280K probably benign 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
R6642:Kctd20 UTSW 17 29,180,640 (GRCm39) missense probably damaging 0.98
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
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'- TTACGCTGCAAGAGAGTAGG -3'
(R):5'- AGATGACAAAACGACTCCTGTC -3'

Sequencing Primer
(F):5'- TTACGCTGCAAGAGAGTAGGTAGTG -3'
(R):5'- TGAGCTCACATAAGGACTTACAAG -3'
Posted On 2019-12-20