Incidental Mutation 'IGL02706:Kctd9'
ID304368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kctd9
Ensembl Gene ENSMUSG00000034327
Gene Namepotassium channel tetramerisation domain containing 9
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.258) question?
Stock #IGL02706
Quality Score
Status
Chromosome14
Chromosomal Location67715937-67742310 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 67724681 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078053] [ENSMUST00000125212] [ENSMUST00000145542] [ENSMUST00000150768] [ENSMUST00000152243] [ENSMUST00000156700]
Predicted Effect probably null
Transcript: ENSMUST00000078053
SMART Domains Protein: ENSMUSP00000077200
Gene: ENSMUSG00000034327

DomainStartEndE-ValueType
Pfam:DUF3354 1 65 3.5e-22 PFAM
BTB 89 192 1.76e-16 SMART
Pfam:Pentapeptide 253 292 1e-14 PFAM
Pfam:Pentapeptide_4 258 334 2.7e-15 PFAM
Pfam:Pentapeptide 288 327 6.8e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000125212
Predicted Effect probably null
Transcript: ENSMUST00000145542
Predicted Effect probably null
Transcript: ENSMUST00000150768
SMART Domains Protein: ENSMUSP00000114489
Gene: ENSMUSG00000034327

DomainStartEndE-ValueType
Pfam:KHA 2 64 1.4e-21 PFAM
BTB 89 192 1.76e-16 SMART
Pfam:Pentapeptide 219 255 9.3e-8 PFAM
Pfam:Pentapeptide 248 280 9.3e-11 PFAM
Pfam:Pentapeptide 258 297 3e-10 PFAM
Pfam:Pentapeptide 303 342 3.2e-13 PFAM
Pfam:Pentapeptide_4 308 384 3.3e-13 PFAM
Pfam:Pentapeptide 338 377 2.1e-15 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000152243
SMART Domains Protein: ENSMUSP00000120440
Gene: ENSMUSG00000034327

DomainStartEndE-ValueType
Pfam:BTB_2 1 70 1.3e-13 PFAM
Pfam:BTB 1 78 6.2e-7 PFAM
Pfam:Pentapeptide 105 137 4.3e-8 PFAM
Pfam:Pentapeptide 134 166 5.5e-11 PFAM
Pfam:Pentapeptide 144 183 1.5e-10 PFAM
Pfam:Pentapeptide_4 165 239 5.3e-9 PFAM
Pfam:Pentapeptide 189 228 1.7e-13 PFAM
Pfam:Pentapeptide 209 237 9.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156700
SMART Domains Protein: ENSMUSP00000115002
Gene: ENSMUSG00000034327

DomainStartEndE-ValueType
Pfam:DUF3354 1 65 2.5e-23 PFAM
SCOP:d3kvt__ 89 107 9e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,298,992 E781G probably benign Het
Abcc8 C T 7: 46,166,921 R265Q probably benign Het
Agtr1b A T 3: 20,315,863 I193N probably benign Het
Atp6v1e2 A G 17: 86,944,934 I12T probably damaging Het
Cacna1g T C 11: 94,456,992 T757A probably damaging Het
Cldn15 A G 5: 136,974,831 K200R probably benign Het
Dip2b G T 15: 100,215,311 V1302F probably damaging Het
Dnajb6 T A 5: 29,752,423 Y68N probably damaging Het
Dok1 T A 6: 83,032,334 E179V probably damaging Het
Epha4 T C 1: 77,426,845 T342A probably damaging Het
Etf1 A T 18: 34,931,637 S6R possibly damaging Het
Fryl T C 5: 73,093,163 I987V probably benign Het
Gba2 C T 4: 43,567,257 G897S probably benign Het
Habp2 G T 19: 56,310,138 probably null Het
Hapln1 G T 13: 89,605,459 S248I possibly damaging Het
Hydin A G 8: 110,410,566 D667G probably damaging Het
Kcnma1 T A 14: 23,309,154 H1074L probably damaging Het
L3mbtl4 A G 17: 68,486,919 D306G probably damaging Het
Lgalsl T C 11: 20,830,090 R49G probably damaging Het
Lpo C T 11: 87,817,773 S133N probably benign Het
Lrp8 A T 4: 107,803,319 R59* probably null Het
Mctp1 T C 13: 76,823,069 F629S probably damaging Het
Med1 A G 11: 98,156,707 probably benign Het
Nbea T C 3: 56,037,278 H555R probably damaging Het
Nedd1 T C 10: 92,686,285 H630R possibly damaging Het
Nr3c2 A T 8: 76,908,416 probably null Het
Nubp2 A T 17: 24,883,197 V267E probably benign Het
Oacyl A T 18: 65,749,721 Y629F probably damaging Het
Olfr1475 A T 19: 13,480,098 Y33* probably null Het
Olfr353 A G 2: 36,890,719 I43T probably damaging Het
Olfr54 T A 11: 51,027,264 H87Q probably damaging Het
Pknox2 T C 9: 36,936,379 H114R probably benign Het
Ppp2r1b A G 9: 50,878,834 D564G possibly damaging Het
Ppp3ca T G 3: 136,905,318 N367K possibly damaging Het
Ptprn2 T C 12: 116,888,898 V525A probably damaging Het
Reps1 T G 10: 18,123,015 probably benign Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Sipa1l1 A G 12: 82,397,433 I973V possibly damaging Het
Ssh2 T A 11: 77,453,406 V739D possibly damaging Het
Tbc1d24 A G 17: 24,185,421 F250L probably benign Het
Ube3a T A 7: 59,272,133 H84Q possibly damaging Het
Usp34 T C 11: 23,388,659 probably benign Het
Zdhhc8 G T 16: 18,224,894 L481I probably damaging Het
Zfp574 A G 7: 25,081,365 H604R probably damaging Het
Zfp945 A T 17: 22,857,282 M63K probably damaging Het
Other mutations in Kctd9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03034:Kctd9 APN 14 67734279 missense probably benign 0.36
R0686:Kctd9 UTSW 14 67728736 missense probably damaging 1.00
R1069:Kctd9 UTSW 14 67729420 splice site probably benign
R3737:Kctd9 UTSW 14 67734288 missense possibly damaging 0.92
R3738:Kctd9 UTSW 14 67734288 missense possibly damaging 0.92
R4785:Kctd9 UTSW 14 67734164 missense probably damaging 1.00
R4939:Kctd9 UTSW 14 67729686 missense probably damaging 1.00
R4989:Kctd9 UTSW 14 67729356 missense probably damaging 1.00
R5133:Kctd9 UTSW 14 67729356 missense probably damaging 1.00
R5138:Kctd9 UTSW 14 67728748 critical splice donor site probably null
R5232:Kctd9 UTSW 14 67724661 missense probably damaging 1.00
R5454:Kctd9 UTSW 14 67740387 missense probably damaging 1.00
R6642:Kctd9 UTSW 14 67724673 nonsense probably null
Posted On2015-04-16