Incidental Mutation 'RF001:Kctd8'
ID602495
Institutional Source Beutler Lab
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: 0.093) question?
Stock #RF001 (G1)
Quality Score225.009
Status Not validated
Chromosome5
Chromosomal Location69109285-69341679 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 69110432 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 445 (K445R)
Ref Sequence ENSEMBL: ENSMUSP00000055326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054095]
Predicted Effect possibly damaging
Transcript: ENSMUST00000054095
AA Change: K445R

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000055326
Gene: ENSMUSG00000037653
AA Change: K445R

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005L19Rik G GTGGCTGCTA 1: 82,913,590 probably benign Het
Acer1 A G 17: 56,958,909 V122A probably benign Het
Ankhd1 GGCGGC GGCGGCAGCGGC 18: 36,560,921 probably benign Het
Ankrd24 C CGGAGGCAGAGGA 10: 81,643,571 probably benign Het
Atp13a1 C A 8: 69,800,070 A680D probably damaging Het
Blm CGCCTCCTCCTC CGCCTCCTCCTCAGCCTCCTCCTC 7: 80,512,903 probably benign Het
Blm CTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCATCCTCCTCCTCCTCCTCCTCCTC 7: 80,512,906 probably benign Het
Blm CTCCTCC CTCCTCCTCCTCGTCCTCC 7: 80,512,927 probably benign Het
Cad GT G 5: 31,060,212 probably benign Het
Calhm1 GC GCTGTGGCTGTGTC 19: 47,141,276 probably benign Het
Casz1 CACA C 4: 148,952,304 probably benign Het
Cherp GACCTGGA G 8: 72,462,049 probably null Het
Chga AGC AGCTGC 12: 102,561,423 probably benign Het
Coq7 A G 7: 118,533,182 S24P probably benign Het
Cul1 T C 6: 47,524,581 V734A possibly damaging Het
Cyb5r4 GCCCAGGGATGTGACAGACACACT GCCCAGGGATGTGACAGACACACTCCCCAGGGATGTGACAGACACACT 9: 87,040,416 probably benign Het
Dgkz A T 2: 91,939,941 F521I possibly damaging Het
Fam171b GCAGCA GCAGCATCAGCA 2: 83,812,886 probably benign Het
Fat1 T G 8: 44,988,966 S1102A probably benign Het
Gab3 CTT CTTTTT X: 75,000,018 probably benign Het
Gm14412 T C 2: 177,317,101 I52V probably benign Het
Gm5346 T G 8: 43,626,905 D94A possibly damaging Het
Gm5414 T C 15: 101,627,953 E79G probably benign Het
Gpc5 G A 14: 115,417,178 S470N probably benign Het
Grin2b A G 6: 136,044,240 V21A probably benign Het
Hecw1 C A 13: 14,297,424 C553F probably damaging Het
Hsd3b6 T A 3: 98,806,440 H181L probably benign Het
Il2 CCAGGTGCTGCTGC CC 3: 37,125,762 probably benign Het
Inpp5f G A 7: 128,695,083 G1053R probably damaging Het
Kcnma1 T G 14: 23,311,697 Y1142S probably damaging Het
Kmt2b CC CCTCCTTC 7: 30,586,382 probably benign Het
Kmt2c TG TGTTGCGG 5: 25,315,775 probably benign Het
Krtap28-10 CACAGCCACAGCCACCACAGCCACAGCCAC CACAGCCACAGCCACAACAGCCACAGCCACCACAGCCACAGCCAC 1: 83,042,255 probably benign Het
Krtap28-10 GCCACCACAGC GCCACCACAGCCACATCCACCACAGC 1: 83,042,280 probably benign Het
Krtap28-10 CACCAC CACCACCGCCACCGCAACCAC 1: 83,042,282 probably benign Het
Lama1 A G 17: 67,752,902 D662G Het
Lce1m AC ACTGCTGCTGCCCC 3: 93,018,152 probably benign Het
Lce1m GCTGCCACC GCTGCCACCACTCCTGCCACC 3: 93,018,269 probably benign Het
Lmo4 A C 3: 144,201,862 S63A possibly damaging Het
Lrrk2 T C 15: 91,736,633 I952T probably benign Het
Lyst T C 13: 13,635,841 F699L probably benign Het
Matn3 T A 12: 8,958,797 D303E probably benign Het
Me1 A G 9: 86,582,823 Y545H probably damaging Het
Mettl3 A T 14: 52,300,299 V68E probably benign Het
Mptx2 T C 1: 173,274,969 N51S probably benign Het
Mylk A G 16: 34,879,371 D368G probably benign Het
Myom2 T C 8: 15,081,418 V372A possibly damaging Het
Neb T C 2: 52,195,421 D5569G probably damaging Het
Nefh GGGACTTGGCCTCACCTGGGGACTTGGCCTC GGGACTTGGCCTCACCTGCGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,941,030 probably benign Het
P4ha2 CCAGGTG C 11: 54,110,235 probably benign Het
Pop1 G A 15: 34,502,437 G90D probably damaging Het
Rbm12 CC CCGGGTATTGTGGGACCAGTTATTGCGGGAGC 2: 156,096,075 probably benign Het
Sertad4 T C 1: 192,847,178 Y110C probably damaging Het
Setd1a GGTAGTGGT GGTAGTGGTAGTAGTGGT 7: 127,785,314 probably benign Het
Smarca2 ACA ACAACAGCA 19: 26,630,986 probably benign Het
Smarca2 AGC AGCCCCGGC 19: 26,631,021 probably benign Het
Supt20 AGCA AGCACCCGCA 3: 54,727,662 probably benign Het
Tcof1 AGC AGCCGC 18: 60,835,739 probably benign Het
Tecpr1 A G 5: 144,217,386 F83S probably damaging Het
Triobp GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA 15: 78,967,027 probably benign Het
Vmn1r48 A T 6: 90,036,204 M213K probably benign Het
Zc3h4 CCC CCCTGACATGCATCC 7: 16,429,687 probably benign Het
Zscan29 T C 2: 121,163,996 N503D possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TTCACACCGGCCATCAGTTAG -3'
(R):5'- ATGAGCTCTCCACATCCAGC -3'

Sequencing Primer
(F):5'- CCATCAGTTAGGCGGTGAC -3'
(R):5'- TGTGACAGCCACTCAGAGG -3'
Posted On2019-12-04