Incidental Mutation 'R5818:Kctd8'
ID449153
Institutional Source Beutler Lab
Gene Symbol Kctd8
Ensembl Gene ENSMUSG00000037653
Gene Namepotassium channel tetramerisation domain containing 8
Synonyms
MMRRC Submission 043398-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #R5818 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location69109285-69341679 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 69296711 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 328 (A328T)
Ref Sequence ENSEMBL: ENSMUSP00000084484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054095] [ENSMUST00000087231]
Predicted Effect probably benign
Transcript: ENSMUST00000054095
SMART Domains Protein: ENSMUSP00000055326
Gene: ENSMUSG00000037653

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 probably benign
Transcript: ENSMUST00000087231
AA Change: A328T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000084484
Gene: ENSMUSG00000037653
AA Change: A328T

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,219,643 V560D probably damaging Het
Actn4 A G 7: 28,919,019 I72T probably damaging Het
Adam33 A T 2: 131,054,358 C440S possibly damaging Het
Bace1 T C 9: 45,859,049 I361T possibly damaging Het
Bend6 T C 1: 33,883,573 probably benign Het
Bpifb9a T G 2: 154,262,295 N219K probably damaging Het
Cacna1g C A 11: 94,418,120 K1634N probably damaging Het
Ccdc155 C T 7: 45,193,959 probably null Het
Cdk18 A G 1: 132,119,098 probably null Het
Chrng G A 1: 87,209,801 V320I probably benign Het
Corin G T 5: 72,435,395 H87N probably benign Het
Cps1 A T 1: 67,166,488 I557F possibly damaging Het
Cyp4a29 T C 4: 115,247,032 V99A possibly damaging Het
Dach1 T C 14: 98,168,684 D209G probably damaging Het
Dgat1 G A 15: 76,502,207 probably benign Het
Fbxw26 G T 9: 109,732,566 R187S probably benign Het
Gabrd G A 4: 155,388,361 P122S probably damaging Het
Gm11677 C T 11: 111,724,711 noncoding transcript Het
Gm8300 T G 12: 87,517,060 V55G possibly damaging Het
Hif1a A G 12: 73,939,564 Q343R possibly damaging Het
Hyou1 G A 9: 44,388,926 probably null Het
Igfn1 A T 1: 135,966,126 I2072K possibly damaging Het
Krt10 A G 11: 99,388,771 Y188H probably damaging Het
Krtap4-16 T A 11: 99,851,523 Q17L unknown Het
Larp4b T A 13: 9,158,560 S416R probably benign Het
Lmtk2 G A 5: 144,156,900 V232M probably benign Het
Mroh4 A G 15: 74,611,982 I571T probably damaging Het
Myo15 G A 11: 60,497,951 R2021Q probably benign Het
Npl G A 1: 153,535,915 R63C probably damaging Het
Ntn4 A G 10: 93,644,764 I80V probably benign Het
Numb C T 12: 83,825,254 probably null Het
Nusap1 A C 2: 119,635,513 M205L possibly damaging Het
Olfr149 T C 9: 39,702,365 S135G probably benign Het
Onecut2 T A 18: 64,340,975 M180K possibly damaging Het
Pmfbp1 T C 8: 109,538,679 probably null Het
Ppfia1 T C 7: 144,520,568 probably benign Het
Ppm1b A G 17: 84,993,719 K9R probably benign Het
Rab11fip3 T C 17: 26,016,116 S608G probably damaging Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 probably benign Het
Sohlh2 A G 3: 55,190,501 T125A probably damaging Het
Ssfa2 T A 2: 79,644,593 S299T probably damaging Het
Tet1 C A 10: 62,816,408 M1610I possibly damaging Het
Tgfbr3 A T 5: 107,133,003 D630E probably benign Het
Thnsl2 T C 6: 71,134,143 D247G probably benign Het
Tmem198b G A 10: 128,802,188 R169W probably benign Het
Tmem201 G A 4: 149,727,392 A332V probably benign Het
Tsku T C 7: 98,352,098 D342G possibly damaging Het
Ucn2 A T 9: 108,986,497 H109L probably benign Het
Virma T G 4: 11,513,319 L391R possibly damaging Het
Vmn1r60 T A 7: 5,545,099 M1L probably benign Het
Vmn2r76 T C 7: 86,229,934 H386R probably benign Het
Zfp608 C T 18: 54,895,396 R1315Q probably benign Het
Zmym2 A G 14: 56,946,529 T983A probably benign Het
Zscan26 A G 13: 21,445,761 S65P probably benign Het
Other mutations in Kctd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01935:Kctd8 APN 5 69340364 missense possibly damaging 0.90
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
R5821:Kctd8 UTSW 5 69110485 missense probably benign 0.20
R6857:Kctd8 UTSW 5 69296702 missense probably benign
Predicted Primers PCR Primer
(F):5'- GGCATGAGAAGATCTTTAAAATGGC -3'
(R):5'- TTGTATTCGTGCTCACCAGGC -3'

Sequencing Primer
(F):5'- ACTCCATGCTTTTAGAGAGTTGTC -3'
(R):5'- GGCAAGGAATCTTCAAATATCCCTG -3'
Posted On2016-12-20