Incidental Mutation 'R1996:Kctd19'
ID 225751
Institutional Source Beutler Lab
Gene Symbol Kctd19
Ensembl Gene ENSMUSG00000051648
Gene Name potassium channel tetramerisation domain containing 19
Synonyms 4922504H04Rik
MMRRC Submission 040006-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R1996 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106109439-106140134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106121932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 205 (E205G)
Ref Sequence ENSEMBL: ENSMUSP00000130831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063071] [ENSMUST00000167294] [ENSMUST00000168888]
AlphaFold Q562E2
Predicted Effect probably null
Transcript: ENSMUST00000063071
AA Change: E205G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: E205G

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 null
Transcript: ENSMUST00000167294
AA Change: E205G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: E205G

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
Meta Mutation Damage Score 0.5495 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 99% (84/85)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,646,556 (GRCm39) W1069R probably damaging Het
Aaas C T 15: 102,248,494 (GRCm39) V241I probably benign Het
Abca3 A G 17: 24,606,506 (GRCm39) E787G probably damaging Het
Abi3bp A T 16: 56,491,720 (GRCm39) E582D possibly damaging Het
Adam21 A G 12: 81,606,376 (GRCm39) M462T possibly damaging Het
Alox12e T C 11: 70,207,034 (GRCm39) T591A probably benign Het
Ankmy2 T C 12: 36,243,796 (GRCm39) M337T probably benign Het
Antxrl A G 14: 33,797,786 (GRCm39) N587S probably benign Het
Apol6 T A 15: 76,934,956 (GRCm39) I75N probably benign Het
Atad2b A T 12: 5,040,883 (GRCm39) H184L probably benign Het
Atf6b A T 17: 34,871,961 (GRCm39) probably null Het
B3gnt4 G A 5: 123,649,402 (GRCm39) V256I probably damaging Het
BC034090 C T 1: 155,097,340 (GRCm39) probably benign Het
Bend4 C A 5: 67,557,527 (GRCm39) V430F probably damaging Het
Camkv A G 9: 107,824,320 (GRCm39) D244G probably damaging Het
Caps2 T A 10: 112,039,908 (GRCm39) L450Q probably damaging Het
Ccr1 T A 9: 123,763,551 (GRCm39) K326N probably benign Het
Cep135 T C 5: 76,780,113 (GRCm39) I815T probably benign Het
Chchd4 A G 6: 91,442,116 (GRCm39) Y101H probably damaging Het
Copb1 G C 7: 113,831,438 (GRCm39) A570G probably benign Het
Cpsf2 C A 12: 101,964,867 (GRCm39) T505K probably benign Het
Cwf19l2 A G 9: 3,417,947 (GRCm39) R136G probably benign Het
Daxx A G 17: 34,132,585 (GRCm39) T572A possibly damaging Het
Etaa1 C A 11: 17,902,671 (GRCm39) D89Y probably damaging Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fchsd2 T C 7: 100,927,660 (GRCm39) F701L probably benign Het
Fstl5 A T 3: 76,615,141 (GRCm39) H734L probably benign Het
Gabbr1 T A 17: 37,380,112 (GRCm39) W584R probably damaging Het
Galc T C 12: 98,218,285 (GRCm39) D189G probably damaging Het
Gm9979 T C 13: 40,859,228 (GRCm39) noncoding transcript Het
Grin2b T C 6: 136,021,209 (GRCm39) S31G possibly damaging Het
Gtf2ird1 T C 5: 134,405,740 (GRCm39) probably benign Het
Hoxc4 T C 15: 102,944,183 (GRCm39) I187T probably damaging Het
Hsd3b6 A T 3: 98,713,597 (GRCm39) I234N probably damaging Het
Ifit3b T C 19: 34,588,877 (GRCm39) C18R probably damaging Het
Igdcc4 T A 9: 65,029,101 (GRCm39) V246E probably damaging Het
Il1rap A T 16: 26,541,243 (GRCm39) T495S probably benign Het
Kif21a A T 15: 90,878,574 (GRCm39) C235* probably null Het
Krt16 A T 11: 100,139,614 (GRCm39) S35T unknown Het
Lamc2 T C 1: 153,030,216 (GRCm39) D142G possibly damaging Het
Larp4 G T 15: 99,882,844 (GRCm39) W22L probably damaging Het
Ldlrad1 C T 4: 107,072,158 (GRCm39) R127* probably null Het
Mamdc2 G A 19: 23,341,289 (GRCm39) Q229* probably null Het
Mbtd1 CT CTT 11: 93,823,222 (GRCm39) probably null Het
Msln T A 17: 25,973,193 (GRCm39) M1L possibly damaging Het
Mtch2 T C 2: 90,677,665 (GRCm39) V8A possibly damaging Het
Nav3 A T 10: 109,689,262 (GRCm39) N338K probably damaging Het
Or10x4 T C 1: 174,218,983 (GRCm39) M116T probably damaging Het
Or51a39 A G 7: 102,362,999 (GRCm39) L207P probably damaging Het
Or6c5 C A 10: 129,074,298 (GRCm39) N93K possibly damaging Het
Otof A G 5: 30,578,381 (GRCm39) V89A probably benign Het
Phka2 T C X: 159,324,411 (GRCm39) I255T probably benign Het
Pias2 T C 18: 77,216,759 (GRCm39) probably null Het
Pja2 T A 17: 64,594,639 (GRCm39) probably null Het
Plxnb2 C T 15: 89,042,971 (GRCm39) V1473I probably benign Het
Pnpt1 T A 11: 29,091,679 (GRCm39) D363E probably benign Het
Prdm5 A G 6: 65,913,072 (GRCm39) Y207C probably damaging Het
Rexo5 T A 7: 119,423,080 (GRCm39) V304E probably damaging Het
Robo1 G T 16: 72,767,067 (GRCm39) R413L probably benign Het
Rsf1 G A 7: 97,313,839 (GRCm39) E864K probably damaging Het
Scap C T 9: 110,202,039 (GRCm39) probably benign Het
Scn8a T A 15: 100,922,260 (GRCm39) M1311K probably damaging Het
Slc28a2 A T 2: 122,286,043 (GRCm39) I460F probably damaging Het
Smco1 A G 16: 32,092,730 (GRCm39) R134G probably benign Het
Spopfm1 A T 3: 94,173,018 (GRCm39) M9L probably benign Het
Sspo A G 6: 48,452,424 (GRCm39) E2651G possibly damaging Het
Stab2 T C 10: 86,838,895 (GRCm39) N57S probably damaging Het
Tenm3 C A 8: 48,681,703 (GRCm39) Q2642H probably damaging Het
Thsd7b G T 1: 129,686,188 (GRCm39) E577* probably null Het
Tlr3 A G 8: 45,850,734 (GRCm39) V721A probably benign Het
Tnik A G 3: 28,719,829 (GRCm39) I1226V probably damaging Het
Traf3 A G 12: 111,227,095 (GRCm39) K328E probably benign Het
Tyw1 T A 5: 130,291,652 (GRCm39) probably benign Het
Vmn1r213 T G 13: 23,196,473 (GRCm39) V352G probably benign Het
Vmn2r111 T C 17: 22,767,062 (GRCm39) I812V probably benign Het
Vmn2r26 A G 6: 124,038,144 (GRCm39) N573S probably damaging Het
Vmn2r45 G A 7: 8,475,024 (GRCm39) T668I probably damaging Het
Zbtb20 T A 16: 43,430,443 (GRCm39) V318E probably damaging Het
Zc2hc1c A G 12: 85,343,434 (GRCm39) R524G probably benign Het
Zc3h18 C G 8: 123,134,126 (GRCm39) probably benign Het
Zfp618 T C 4: 63,049,452 (GRCm39) probably null 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
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
R3768: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'- TTCAGTGAGAACCCCATGCTG -3'
(R):5'- ATCACAATGCCTTGGGGAG -3'

Sequencing Primer
(F):5'- CCATGCTGGGCTCTGCTTG -3'
(R):5'- ATGGCACCTTCTGTATTACAGG -3'
Posted On 2014-08-25