Incidental Mutation 'R3768:Kctd19'
ID 273118
Institutional Source Beutler Lab
Gene Symbol Kctd19
Ensembl Gene ENSMUSG00000051648
Gene Name potassium channel tetramerisation domain containing 19
Synonyms 4922504H04Rik
MMRRC Submission 040745-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R3768 (G1)
Quality Score 182
Status Not validated
Chromosome 8
Chromosomal Location 106109439-106140134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106123112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 101 (T101A)
Ref Sequence ENSEMBL: ENSMUSP00000130831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063071] [ENSMUST00000167294] [ENSMUST00000168888]
AlphaFold Q562E2
Predicted Effect probably benign
Transcript: ENSMUST00000063071
AA Change: T101A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: T101A

DomainStartEndE-ValueType
Pfam:BTB_2 15 92 1.3e-9 PFAM
internal_repeat_1 173 251 8.34e-9 PROSPERO
internal_repeat_1 429 509 8.34e-9 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000167294
AA Change: T101A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: T101A

DomainStartEndE-ValueType
Pfam:BTB_2 15 93 3.9e-10 PFAM
internal_repeat_1 173 251 6.24e-9 PROSPERO
internal_repeat_1 406 486 6.24e-9 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000168888
SMART Domains Protein: ENSMUSP00000131732
Gene: ENSMUSG00000051648

DomainStartEndE-ValueType
Pfam:BTB_2 15 95 4.3e-12 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,204,217 (GRCm39) R353G probably benign Het
Ank1 A G 8: 23,606,202 (GRCm39) D1153G possibly damaging Het
Ankrd12 T C 17: 66,292,715 (GRCm39) Y906C probably benign Het
Apol9a G C 15: 77,288,596 (GRCm39) T257S probably benign Het
Arhgap23 A T 11: 97,366,932 (GRCm39) D1071V probably damaging Het
Arid4a A G 12: 71,113,893 (GRCm39) K160R probably damaging Het
Atp8a2 T A 14: 60,281,785 (GRCm39) H142L probably benign Het
B3gnt2 T C 11: 22,786,765 (GRCm39) K141R probably damaging Het
Btbd7 G A 12: 102,761,451 (GRCm39) P578L probably damaging Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cmya5 A T 13: 93,233,201 (GRCm39) I629K possibly damaging Het
Cnga4 A G 7: 105,056,887 (GRCm39) N330S probably damaging Het
Cplx4 T C 18: 66,102,998 (GRCm39) T41A probably benign Het
Cxcl15 A C 5: 90,949,303 (GRCm39) D156A unknown Het
D630045J12Rik A G 6: 38,119,844 (GRCm39) S1633P probably damaging Het
Dock10 T A 1: 80,510,085 (GRCm39) N1581I probably damaging Het
Dock7 T C 4: 98,859,066 (GRCm39) T1409A probably benign Het
Dscaml1 T A 9: 45,643,435 (GRCm39) F1285I possibly damaging Het
Fgf10 G T 13: 118,918,083 (GRCm39) V124F probably damaging Het
Ifna7 T C 4: 88,734,964 (GRCm39) V167A probably damaging Het
Klf3 A G 5: 64,984,560 (GRCm39) probably null Het
Krtap12-1 G T 10: 77,556,729 (GRCm39) V91L probably benign Het
Lrp2 C T 2: 69,335,449 (GRCm39) D1425N probably benign Het
Mgl2 T C 11: 70,026,659 (GRCm39) L128P probably damaging Het
Mypn C A 10: 62,961,486 (GRCm39) L1035F possibly damaging Het
Ncor2 A G 5: 125,105,751 (GRCm39) V1613A probably damaging Het
Nlgn2 C T 11: 69,719,230 (GRCm39) V207I possibly damaging Het
Or10v1 G A 19: 11,873,676 (GRCm39) G97D probably damaging Het
Or1ad6 A G 11: 50,860,385 (GRCm39) D180G probably damaging Het
Or2y14 T C 11: 49,404,600 (GRCm39) I45T probably damaging Het
Or4d10c A G 19: 12,065,304 (GRCm39) I284T probably damaging Het
Osbpl3 G A 6: 50,324,982 (GRCm39) P172L possibly damaging Het
Pabpc4 T A 4: 123,188,405 (GRCm39) V338D probably damaging Het
Pdia6 T C 12: 17,320,457 (GRCm39) V32A probably damaging Het
Pik3c3 T A 18: 30,466,326 (GRCm39) S792R probably damaging Het
Pla2g5 C G 4: 138,528,746 (GRCm39) C70S probably damaging Het
Pole4 G A 6: 82,599,095 (GRCm39) R119C possibly damaging Het
Ppm1h G T 10: 122,740,027 (GRCm39) L367F probably damaging Het
Ptpru C T 4: 131,535,735 (GRCm39) C414Y probably damaging Het
Rhot2 T C 17: 26,059,521 (GRCm39) D407G probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sap25 T A 5: 137,640,632 (GRCm39) F171I probably damaging Het
Serpinb11 T C 1: 107,305,392 (GRCm39) probably null Het
Tarm1 A T 7: 3,546,097 (GRCm39) S69T probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp36 T C 11: 118,153,878 (GRCm39) K846R probably damaging Het
Zfp229 A T 17: 21,964,844 (GRCm39) H358L probably damaging Het
Zfp747l1 A G 7: 126,984,035 (GRCm39) probably benign Het
Other mutations in Kctd19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Kctd19 APN 8 106,115,095 (GRCm39) critical splice donor site probably null
IGL01546:Kctd19 APN 8 106,113,594 (GRCm39) missense probably benign
IGL01786:Kctd19 APN 8 106,116,936 (GRCm39) missense probably benign 0.03
IGL01964:Kctd19 APN 8 106,115,157 (GRCm39) missense probably damaging 0.99
IGL02275:Kctd19 APN 8 106,123,006 (GRCm39) missense probably damaging 0.99
IGL02479:Kctd19 APN 8 106,111,400 (GRCm39) missense probably damaging 1.00
IGL03124:Kctd19 APN 8 106,113,702 (GRCm39) missense possibly damaging 0.48
R0003:Kctd19 UTSW 8 106,121,993 (GRCm39) missense probably damaging 0.99
R1183:Kctd19 UTSW 8 106,109,598 (GRCm39) missense probably benign
R1388:Kctd19 UTSW 8 106,118,683 (GRCm39) missense probably null 0.93
R1491:Kctd19 UTSW 8 106,113,694 (GRCm39) missense possibly damaging 0.60
R1517:Kctd19 UTSW 8 106,122,008 (GRCm39) missense probably damaging 1.00
R1540:Kctd19 UTSW 8 106,114,511 (GRCm39) missense probably damaging 0.96
R1582:Kctd19 UTSW 8 106,122,092 (GRCm39) missense probably damaging 1.00
R1964:Kctd19 UTSW 8 106,115,102 (GRCm39) missense probably damaging 0.98
R1996:Kctd19 UTSW 8 106,121,932 (GRCm39) missense probably null 1.00
R2129:Kctd19 UTSW 8 106,111,804 (GRCm39) missense probably damaging 0.98
R2281:Kctd19 UTSW 8 106,113,898 (GRCm39) missense probably benign 0.00
R3767:Kctd19 UTSW 8 106,123,112 (GRCm39) missense probably benign 0.04
R4285:Kctd19 UTSW 8 106,109,581 (GRCm39) unclassified probably benign
R4621:Kctd19 UTSW 8 106,123,103 (GRCm39) missense probably damaging 1.00
R4701:Kctd19 UTSW 8 106,117,061 (GRCm39) missense possibly damaging 0.76
R4969:Kctd19 UTSW 8 106,122,959 (GRCm39) splice site probably null
R5070:Kctd19 UTSW 8 106,118,631 (GRCm39) missense probably damaging 1.00
R5401:Kctd19 UTSW 8 106,109,617 (GRCm39) missense probably benign 0.00
R5582:Kctd19 UTSW 8 106,135,075 (GRCm39) missense probably damaging 1.00
R5783:Kctd19 UTSW 8 106,113,612 (GRCm39) missense probably benign
R6056:Kctd19 UTSW 8 106,123,082 (GRCm39) missense probably damaging 0.99
R6057:Kctd19 UTSW 8 106,123,082 (GRCm39) missense probably damaging 0.99
R6269:Kctd19 UTSW 8 106,121,992 (GRCm39) missense possibly damaging 0.96
R6273:Kctd19 UTSW 8 106,112,117 (GRCm39) missense probably benign
R6631:Kctd19 UTSW 8 106,111,960 (GRCm39) critical splice donor site probably null
R7298:Kctd19 UTSW 8 106,109,616 (GRCm39) missense probably benign 0.01
R7474:Kctd19 UTSW 8 106,118,664 (GRCm39) missense probably benign 0.25
R7540:Kctd19 UTSW 8 106,113,567 (GRCm39) missense probably benign 0.00
R7923:Kctd19 UTSW 8 106,111,690 (GRCm39) missense probably damaging 1.00
R8059:Kctd19 UTSW 8 106,122,983 (GRCm39) missense probably benign 0.02
R8117:Kctd19 UTSW 8 106,122,069 (GRCm39) missense unknown
R8836:Kctd19 UTSW 8 106,112,028 (GRCm39) missense probably damaging 0.98
R9155:Kctd19 UTSW 8 106,120,571 (GRCm39) missense probably benign 0.01
R9429:Kctd19 UTSW 8 106,109,652 (GRCm39) missense probably damaging 0.98
R9481:Kctd19 UTSW 8 106,120,249 (GRCm39) missense probably benign 0.00
R9627:Kctd19 UTSW 8 106,113,997 (GRCm39) missense probably benign 0.01
Z1088:Kctd19 UTSW 8 106,111,967 (GRCm39) missense probably benign 0.02
Z1176:Kctd19 UTSW 8 106,111,768 (GRCm39) missense probably damaging 1.00
Z1177:Kctd19 UTSW 8 106,115,149 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACTTCAGGGTGTGGGCC -3'
(R):5'- GGGGATGAATACACATAATGAGCAC -3'

Sequencing Primer
(F):5'- CTGCCCGTGACGGTACCTG -3'
(R):5'- TCTGAAATCAGCCTGTGCAG -3'
Posted On 2015-03-25