Incidental Mutation 'IGL01935:Kctd8'
ID180637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kctd8
Ensembl Gene ENSMUSG00000037653
Gene Namepotassium channel tetramerisation domain containing 8
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL01935
Quality Score
Status
Chromosome5
Chromosomal Location69109285-69341679 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 69340364 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 313 (I313T)
Ref Sequence ENSEMBL: ENSMUSP00000084484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054095] [ENSMUST00000087231]
Predicted Effect possibly damaging
Transcript: ENSMUST00000054095
AA Change: I313T

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000055326
Gene: ENSMUSG00000037653
AA Change: I313T

DomainStartEndE-ValueType
low complexity region 21 41 N/A INTRINSIC
BTB 44 154 1.46e-8 SMART
low complexity region 172 204 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000087231
AA Change: I313T

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000084484
Gene: ENSMUSG00000037653
AA Change: I313T

DomainStartEndE-ValueType
low complexity region 21 41 N/A INTRINSIC
BTB 44 154 1.46e-8 SMART
low complexity region 172 204 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175388
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 C T 6: 140,637,657 probably benign Het
Akr1c12 A T 13: 4,272,245 V266E probably damaging Het
Arhgef1 A G 7: 24,921,882 T186A probably damaging Het
Atp8b5 A G 4: 43,366,638 T801A probably benign Het
Card11 T A 5: 140,883,546 I832F possibly damaging Het
Catsperg1 T C 7: 29,195,871 probably null Het
Ccdc180 A G 4: 45,906,889 T455A possibly damaging Het
Cfhr1 T A 1: 139,551,002 Y210F probably benign Het
Chrna5 T C 9: 55,004,843 V309A probably benign Het
Clstn2 A G 9: 97,463,468 V609A probably damaging Het
D230025D16Rik T C 8: 105,240,001 F127L probably damaging Het
Dnah6 T C 6: 73,060,143 D3372G probably benign Het
Dtymk T C 1: 93,794,743 K113E probably benign Het
Eef2k T C 7: 120,885,831 F307S probably damaging Het
Flnc T A 6: 29,454,280 V1864E probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Herc2 A G 7: 56,153,793 Y2192C probably benign Het
Hkdc1 A T 10: 62,400,386 V459E probably damaging Het
Iqsec3 T C 6: 121,383,992 D969G probably damaging Het
Irf3 A G 7: 45,000,770 T237A probably benign Het
Jade2 G A 11: 51,828,384 T245I possibly damaging Het
Kdm5a T A 6: 120,408,323 S835R probably benign Het
Lama2 A C 10: 27,422,604 H165Q probably damaging Het
Lrp1b T A 2: 41,268,355 N1617Y probably damaging Het
Mcc C T 18: 44,519,516 probably null Het
Mfsd14b T A 13: 65,067,925 M405L probably benign Het
Myom3 T A 4: 135,788,381 F794I probably damaging Het
Napsa G T 7: 44,586,622 A362S probably benign Het
Ncf4 A T 15: 78,255,986 D195V probably damaging Het
Olfr738 T C 14: 50,413,555 F4L probably benign Het
Pank4 T G 4: 154,979,530 D659E probably damaging Het
Pcnx T A 12: 81,917,816 D252E probably benign Het
Pglyrp2 G A 17: 32,418,577 A159V probably benign Het
Pisd C A 5: 32,739,132 probably null Het
Ppfia4 A G 1: 134,317,936 S627P probably benign Het
Ppp1r15b T C 1: 133,132,023 F93L probably benign Het
Pramef12 C T 4: 144,392,602 probably benign Het
Qrfpr A T 3: 36,181,051 probably null Het
Rapgef4 C A 2: 72,234,123 T623K probably benign Het
Rapgef6 A G 11: 54,610,842 T184A possibly damaging Het
Ssrp1 T C 2: 85,046,712 *709Q probably null Het
St7 T G 6: 17,930,823 I442S probably damaging Het
Syne2 T A 12: 75,925,313 H992Q probably damaging Het
Syt14 T C 1: 192,933,371 R436G probably damaging Het
Tbc1d5 A G 17: 50,963,765 probably benign Het
Thsd7a T A 6: 12,317,419 N1630I probably damaging Het
Tinagl1 T C 4: 130,168,001 K180R probably damaging Het
Tmed7 T C 18: 46,597,123 T54A probably benign Het
Tmprss2 A T 16: 97,578,595 Y48* probably null Het
Tns2 C T 15: 102,111,634 probably null Het
Unc13d T C 11: 116,069,751 M496V probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zbtb39 A G 10: 127,742,366 T270A probably benign Het
Zfr T C 15: 12,180,712 S976P probably benign Het
Zscan29 A G 2: 121,170,057 F23S probably damaging Het
Other mutations in Kctd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02212:Kctd8 APN 5 69340688 missense probably benign 0.00
IGL03276:Kctd8 APN 5 69340586 missense possibly damaging 0.71
R0206:Kctd8 UTSW 5 69341165 missense probably damaging 1.00
R0349:Kctd8 UTSW 5 69341010 missense probably damaging 1.00
R1775:Kctd8 UTSW 5 69340560 missense probably damaging 1.00
R1782:Kctd8 UTSW 5 69340976 missense possibly damaging 0.95
R1820:Kctd8 UTSW 5 69340341 missense probably damaging 1.00
R2199:Kctd8 UTSW 5 69341245 missense probably benign 0.02
R2237:Kctd8 UTSW 5 69110409 missense probably damaging 0.98
R2513:Kctd8 UTSW 5 69110645 missense probably benign
R3949:Kctd8 UTSW 5 69341274 missense probably benign 0.20
R4418:Kctd8 UTSW 5 69341162 missense probably damaging 1.00
R4722:Kctd8 UTSW 5 69341201 missense possibly damaging 0.93
R4765:Kctd8 UTSW 5 69340848 missense possibly damaging 0.71
R5009:Kctd8 UTSW 5 69110733 missense probably benign 0.01
R5818:Kctd8 UTSW 5 69296711 missense probably benign
R5821:Kctd8 UTSW 5 69110485 missense probably benign 0.20
R6857:Kctd8 UTSW 5 69296702 missense probably benign
R8272:Kctd8 UTSW 5 69110460 missense probably benign 0.02
R8419:Kctd8 UTSW 5 69340370 missense probably damaging 1.00
RF001:Kctd8 UTSW 5 69110432 missense possibly damaging 0.64
Posted On2014-05-07