Incidental Mutation 'R1582:Kctd19'
ID 171477
Institutional Source Beutler Lab
Gene Symbol Kctd19
Ensembl Gene ENSMUSG00000051648
Gene Name potassium channel tetramerisation domain containing 19
Synonyms 4922504H04Rik
MMRRC Submission 039619-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R1582 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 106109439-106140134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 106122092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 152 (L152F)
Ref Sequence ENSEMBL: ENSMUSP00000130831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063071] [ENSMUST00000167294] [ENSMUST00000168888]
AlphaFold Q562E2
Predicted Effect probably damaging
Transcript: ENSMUST00000063071
AA Change: L152F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: L152F

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 damaging
Transcript: ENSMUST00000167294
AA Change: L152F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: L152F

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 silent
Transcript: ENSMUST00000168888
SMART Domains Protein: ENSMUSP00000131732
Gene: ENSMUSG00000051648

DomainStartEndE-ValueType
Pfam:BTB_2 15 95 4.3e-12 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 C G 2: 31,690,371 (GRCm39) A630G probably damaging Het
Actr3 A G 1: 125,333,662 (GRCm39) Y202H probably benign Het
Adamts19 A G 18: 59,103,013 (GRCm39) N685D probably damaging Het
Atl3 A G 19: 7,494,264 (GRCm39) T138A probably damaging Het
Bpifa2 T C 2: 153,855,638 (GRCm39) S188P probably damaging Het
Bsn T C 9: 107,982,291 (GRCm39) T3821A unknown Het
Dcun1d2 A G 8: 13,330,926 (GRCm39) L68P probably damaging Het
Ddhd1 A T 14: 45,842,566 (GRCm39) L630I probably damaging Het
Ddx25 T C 9: 35,457,272 (GRCm39) T348A probably damaging Het
Dtnb C T 12: 3,823,554 (GRCm39) T580M possibly damaging Het
Dysf A G 6: 84,074,749 (GRCm39) S561G probably damaging Het
Ehbp1l1 A G 19: 5,771,995 (GRCm39) I101T possibly damaging Het
Erich3 T C 3: 154,469,960 (GRCm39) probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam135a T C 1: 24,068,398 (GRCm39) T611A probably damaging Het
Gpbp1 T C 13: 111,573,066 (GRCm39) probably null Het
H2-Oa A T 17: 34,313,695 (GRCm39) T218S probably damaging Het
Kdm5b T A 1: 134,552,591 (GRCm39) M1189K probably damaging Het
Kif13a A G 13: 46,947,398 (GRCm39) V862A probably benign Het
Lct T C 1: 128,228,299 (GRCm39) T1065A probably damaging Het
Mark3 G A 12: 111,621,744 (GRCm39) A697T probably benign Het
Mosmo A G 7: 120,329,728 (GRCm39) I116M possibly damaging Het
Mpped1 C T 15: 83,676,191 (GRCm39) probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Muc15 A T 2: 110,567,817 (GRCm39) M321L probably benign Het
Naa25 T A 5: 121,572,892 (GRCm39) N670K probably benign Het
Or1e1c T A 11: 73,266,090 (GRCm39) C172S probably damaging Het
Or5e1 G T 7: 108,354,317 (GRCm39) V85L probably benign Het
Or6z3 A G 7: 6,463,813 (GRCm39) M102V probably benign Het
Ppara T C 15: 85,682,429 (GRCm39) I375T possibly damaging Het
Prss27 A G 17: 24,263,877 (GRCm39) I188V probably benign Het
Rbms1 A T 2: 60,589,179 (GRCm39) M287K possibly damaging Het
Relt C T 7: 100,500,560 (GRCm39) probably null Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Sec24a A G 11: 51,599,794 (GRCm39) V837A probably benign Het
Smarca2 G A 19: 26,729,305 (GRCm39) D19N probably damaging Het
Sorbs2 G A 8: 46,258,814 (GRCm39) G620D probably damaging Het
Spata31d1c C A 13: 65,181,038 (GRCm39) Q46K probably benign Het
Spata6 C G 4: 111,637,992 (GRCm39) S274* probably null Het
Spata6 C T 4: 111,637,994 (GRCm39) P275S probably benign Het
Tas2r108 T A 6: 40,470,566 (GRCm39) V14D probably benign Het
Thbs2 G T 17: 14,891,550 (GRCm39) P996T probably damaging Het
Tmem131l T C 3: 83,839,090 (GRCm39) Q620R probably damaging Het
Ubap2l A G 3: 89,941,978 (GRCm39) S203P probably damaging Het
Unc45b G A 11: 82,816,771 (GRCm39) G404S probably benign Het
Uri1 A G 7: 37,664,811 (GRCm39) S292P possibly damaging Het
Usp21 A T 1: 171,110,655 (GRCm39) C444S probably damaging Het
Vmn1r117 A T 7: 20,617,484 (GRCm39) V188D possibly damaging Het
Vmn1r7 T C 6: 57,002,143 (GRCm39) D39G probably damaging Het
Wdr25 T C 12: 108,863,980 (GRCm39) F42L possibly damaging 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
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
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'- TGAAGCGGAACTCGCTGCATTC -3'
(R):5'- AAGTCCCTATGCTGGGACATCAGG -3'

Sequencing Primer
(F):5'- ATTCGCACTCGATCAGGG -3'
(R):5'- tgaggacccagaacccac -3'
Posted On 2014-04-13