Incidental Mutation 'IGL02275:Kctd19'
ID 287320
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kctd19
Ensembl Gene ENSMUSG00000051648
Gene Name potassium channel tetramerisation domain containing 19
Synonyms 4922504H04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL02275
Quality Score
Status
Chromosome 8
Chromosomal Location 106109439-106140134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106123006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 136 (I136T)
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: I136T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: I136T

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: I136T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: I136T

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik T A 16: 3,724,146 (GRCm39) D130V probably damaging Het
4930596D02Rik T C 14: 35,533,880 (GRCm39) T9A probably benign Het
Anapc1 C A 2: 128,501,772 (GRCm39) A757S probably benign Het
Bpifa6 A T 2: 153,834,192 (GRCm39) D328V probably benign Het
Cdh19 T A 1: 110,853,616 (GRCm39) K275I probably benign Het
Col18a1 A G 10: 76,895,217 (GRCm39) I1148T possibly damaging Het
Commd1 A T 11: 22,850,017 (GRCm39) V222D probably damaging Het
Crim1 T A 17: 78,677,427 (GRCm39) M876K possibly damaging Het
Dennd1b C A 1: 139,008,992 (GRCm39) H232N probably damaging Het
Dhx57 T C 17: 80,582,268 (GRCm39) T393A probably benign Het
Dnai7 T C 6: 145,123,090 (GRCm39) Y592C probably damaging Het
Gabrb2 G T 11: 42,482,721 (GRCm39) R193L probably benign Het
Gm5828 T A 1: 16,839,342 (GRCm39) noncoding transcript Het
Gm6483 C T 8: 19,741,629 (GRCm39) P55S probably damaging Het
Hsp90ab1 T C 17: 45,879,364 (GRCm39) Y619C possibly damaging Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or2w6 A C 13: 21,843,170 (GRCm39) F108V probably benign Het
Sel1l T C 12: 91,781,789 (GRCm39) Y532C probably damaging Het
Sirpb1a A G 3: 15,475,469 (GRCm39) probably null Het
Ush2a C T 1: 187,995,466 (GRCm39) T79M possibly damaging Het
Usp24 T C 4: 106,244,690 (GRCm39) V1215A probably damaging Het
Vdac3-ps1 T C 13: 18,205,379 (GRCm39) noncoding transcript Het
Vmn2r75 T C 7: 85,814,348 (GRCm39) T382A probably benign Het
Vps53 T C 11: 75,937,949 (GRCm39) Y728C 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
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
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
Posted On 2015-04-16