Incidental Mutation 'R9400:Kctd11'
ID 711063
Institutional Source Beutler Lab
Gene Symbol Kctd11
Ensembl Gene ENSMUSG00000046731
Gene Name potassium channel tetramerisation domain containing 11
Synonyms Ren
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.596) question?
Stock # R9400 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 69769090-69771811 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 69770544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 165 (E165*)
Ref Sequence ENSEMBL: ENSMUSP00000059107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001631] [ENSMUST00000050555] [ENSMUST00000108622] [ENSMUST00000178597]
AlphaFold Q8K485
Predicted Effect probably benign
Transcript: ENSMUST00000001631
SMART Domains Protein: ENSMUSP00000001631
Gene: ENSMUSG00000001588

DomainStartEndE-ValueType
Pfam:BAR_3 5 240 2.1e-68 PFAM
PH 266 362 4.42e-15 SMART
ArfGap 405 527 2.42e-50 SMART
ANK 606 635 4.01e0 SMART
ANK 639 668 3.04e0 SMART
ANK 672 702 4.18e2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000050555
AA Change: E165*
SMART Domains Protein: ENSMUSP00000059107
Gene: ENSMUSG00000046731
AA Change: E165*

DomainStartEndE-ValueType
Pfam:BTB_2 1 73 1.8e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108622
SMART Domains Protein: ENSMUSP00000104262
Gene: ENSMUSG00000001588

DomainStartEndE-ValueType
PH 78 174 4.42e-15 SMART
ArfGap 217 339 2.42e-50 SMART
ANK 418 447 4.01e0 SMART
ANK 451 480 3.04e0 SMART
ANK 484 514 4.18e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178597
SMART Domains Protein: ENSMUSP00000137492
Gene: ENSMUSG00000094845

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:TMEM95 17 168 3.9e-83 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik A G 17: 9,211,118 (GRCm39) N89S probably benign Het
9930111J21Rik1 C T 11: 48,839,244 (GRCm39) E448K possibly damaging Het
Acer1 G A 17: 57,288,990 (GRCm39) T40M probably damaging Het
Adam1a T C 5: 121,657,893 (GRCm39) T467A probably benign Het
Agmat A G 4: 141,476,981 (GRCm39) D129G probably damaging Het
Ak8 T A 2: 28,650,011 (GRCm39) I346N probably benign Het
Ankrd12 A T 17: 66,291,875 (GRCm39) V1186E probably damaging Het
Ankrd27 T G 7: 35,316,282 (GRCm39) L516R probably damaging Het
Aplp2 C A 9: 31,075,855 (GRCm39) R402L possibly damaging Het
Aspm A G 1: 139,407,641 (GRCm39) Y2176C probably damaging Het
Boc T C 16: 44,319,844 (GRCm39) D380G Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Chst2 T C 9: 95,287,642 (GRCm39) S235G probably benign Het
Clca4b A G 3: 144,616,953 (GRCm39) V899A probably benign Het
Ddx1 A G 12: 13,273,703 (GRCm39) S617P probably damaging Het
Etv5 A T 16: 22,220,476 (GRCm39) F304I probably benign Het
Fmo9 T G 1: 166,505,243 (GRCm39) E50A probably benign Het
Gbp11 T C 5: 105,478,841 (GRCm39) E199G probably damaging Het
Gemin5 C T 11: 58,028,541 (GRCm39) G893D probably damaging Het
Gorab G T 1: 163,224,567 (GRCm39) P78Q probably damaging Het
Gprc5a A G 6: 135,055,558 (GRCm39) T2A probably benign Het
Gtf3c1 A G 7: 125,275,683 (GRCm39) I581T probably damaging Het
H6pd A G 4: 150,080,248 (GRCm39) F199S probably damaging Het
Hdac3 A T 18: 38,070,677 (GRCm39) V426E possibly damaging Het
Jag2 G T 12: 112,875,608 (GRCm39) Y838* probably null Het
Kat6b G T 14: 21,659,826 (GRCm39) R210L probably damaging Het
Knl1 T C 2: 118,931,224 (GRCm39) V1980A probably damaging Het
Lilrb4b T C 10: 51,357,319 (GRCm39) S52P probably benign Het
Lrp5 T G 19: 3,635,272 (GRCm39) M1535L probably benign Het
Lrr1 A G 12: 69,221,476 (GRCm39) D206G probably benign Het
Lrrd1 G A 5: 3,899,677 (GRCm39) probably benign Het
Map3k6 C A 4: 132,968,467 (GRCm39) A23E probably damaging Het
Mgat4a T C 1: 37,502,025 (GRCm39) D241G probably damaging Het
Mpzl3 A G 9: 44,986,077 (GRCm39) Y237C possibly damaging Het
Mroh1 A G 15: 76,336,093 (GRCm39) E1489G possibly damaging Het
Myocd T C 11: 65,086,934 (GRCm39) H331R probably benign Het
Myoz1 T A 14: 20,699,504 (GRCm39) H278L probably benign Het
Or12d2 A T 17: 37,624,554 (GRCm39) C240* probably null Het
Or1e22 A T 11: 73,376,807 (GRCm39) V281E probably damaging Het
Or4c104 A G 2: 88,586,293 (GRCm39) I242T possibly damaging Het
Or5a3 C A 19: 12,400,274 (GRCm39) N200K possibly damaging Het
Or5b102 T A 19: 13,041,139 (GRCm39) Y121* probably null Het
Or5b24 T A 19: 12,912,878 (GRCm39) Y259N probably damaging Het
Otof A T 5: 30,540,863 (GRCm39) probably null Het
Pcdha1 A G 18: 37,064,760 (GRCm39) I475V probably benign Het
Pcgf1 A G 6: 83,057,066 (GRCm39) E199G possibly damaging Het
Pip C A 6: 41,828,782 (GRCm39) T109K probably benign Het
Slc12a7 A G 13: 73,932,689 (GRCm39) E59G probably benign Het
Slc38a2 T C 15: 96,591,053 (GRCm39) I237V probably benign Het
Slc6a5 T C 7: 49,595,267 (GRCm39) V543A probably benign Het
Slc9a2 T C 1: 40,758,211 (GRCm39) V250A possibly damaging Het
Smarcad1 T C 6: 65,050,214 (GRCm39) Y278H probably damaging Het
Snx7 A T 3: 117,630,863 (GRCm39) N248K probably benign Het
Spata6 T A 4: 111,577,428 (GRCm39) C9S probably benign Het
Stra6l T A 4: 45,885,293 (GRCm39) L587Q probably damaging Het
Tmem131l G T 3: 83,830,293 (GRCm39) N916K possibly damaging Het
Tmprss11c C T 5: 86,385,516 (GRCm39) V319I probably benign Het
Tpo A T 12: 30,169,441 (GRCm39) I98K possibly damaging Het
Umodl1 A G 17: 31,215,367 (GRCm39) T1064A probably damaging Het
Vldlr T C 19: 27,216,175 (GRCm39) I332T probably damaging Het
Wdr75 T A 1: 45,843,064 (GRCm39) L133Q probably damaging Het
Zdhhc21 T C 4: 82,753,687 (GRCm39) N167S probably benign Het
Zfp37 A T 4: 62,109,904 (GRCm39) C428S probably damaging Het
Other mutations in Kctd11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0240:Kctd11 UTSW 11 69,770,640 (GRCm39) missense probably damaging 0.99
R0240:Kctd11 UTSW 11 69,770,640 (GRCm39) missense probably damaging 0.99
R2095:Kctd11 UTSW 11 69,770,402 (GRCm39) missense probably damaging 1.00
R5941:Kctd11 UTSW 11 69,770,799 (GRCm39) missense possibly damaging 0.91
R7072:Kctd11 UTSW 11 69,770,621 (GRCm39) missense probably benign 0.00
R7079:Kctd11 UTSW 11 69,770,847 (GRCm39) missense probably damaging 1.00
R7558:Kctd11 UTSW 11 69,770,416 (GRCm39) missense probably benign 0.10
R8075:Kctd11 UTSW 11 69,771,095 (GRCm39) unclassified probably benign
R8288:Kctd11 UTSW 11 69,770,883 (GRCm39) missense probably damaging 1.00
R8496:Kctd11 UTSW 11 69,770,877 (GRCm39) missense probably damaging 1.00
R9185:Kctd11 UTSW 11 69,770,676 (GRCm39) missense possibly damaging 0.86
R9798:Kctd11 UTSW 11 69,770,732 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGAAGGTCTTCAGGGTCTG -3'
(R):5'- CTCCATGCAGATGTAGATGTCAGC -3'

Sequencing Primer
(F):5'- TCTTCAGGGTCTGGGAAGACAG -3'
(R):5'- AGATGTAGATGTCAGCCCCCG -3'
Posted On 2022-04-20