Incidental Mutation 'R5903:Kctd10'
ID 456437
Institutional Source Beutler Lab
Gene Symbol Kctd10
Ensembl Gene ENSMUSG00000001098
Gene Name potassium channel tetramerisation domain containing 10
Synonyms
MMRRC Submission 044101-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.577) question?
Stock # R5903 (G1)
Quality Score 120
Status Not validated
Chromosome 5
Chromosomal Location 114501633-114518566 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 114518523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001125] [ENSMUST00000074002] [ENSMUST00000102581] [ENSMUST00000130169] [ENSMUST00000134532] [ENSMUST00000151809]
AlphaFold Q922M3
Predicted Effect probably benign
Transcript: ENSMUST00000001125
SMART Domains Protein: ENSMUSP00000001125
Gene: ENSMUSG00000001098

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
BTB 32 132 3.21e-19 SMART
low complexity region 287 303 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074002
SMART Domains Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577

DomainStartEndE-ValueType
IQ 28 50 1.17e-2 SMART
low complexity region 310 327 N/A INTRINSIC
low complexity region 412 428 N/A INTRINSIC
low complexity region 470 488 N/A INTRINSIC
HECTc 697 1070 2.15e-110 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102581
SMART Domains Protein: ENSMUSP00000099641
Gene: ENSMUSG00000001098

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
BTB 32 132 6.89e-19 SMART
low complexity region 286 302 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130169
SMART Domains Protein: ENSMUSP00000138723
Gene: ENSMUSG00000029577

DomainStartEndE-ValueType
IQ 28 50 1.17e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134532
SMART Domains Protein: ENSMUSP00000138564
Gene: ENSMUSG00000001098

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
Pfam:BTB_2 34 89 2.8e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151809
SMART Domains Protein: ENSMUSP00000142943
Gene: ENSMUSG00000029577

DomainStartEndE-ValueType
IQ 28 50 5.6e-5 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.8%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds proliferating cell nuclear antigen (PCNA) and may be involved in DNA synthesis and cell proliferation. In addition, the encoded protein may be a tumor suppressor. Several protein-coding and non-protein coding transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E10.5 and E11.5, abnormal vasculature, absent vitelline circulation, enlarged pericardium, thin myocardium and defective heart valve defect formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A G 5: 66,145,661 (GRCm39) V150A unknown Het
Abraxas1 T C 5: 100,965,824 (GRCm39) probably null Het
Actl7a G T 4: 56,743,827 (GRCm39) R118L probably damaging Het
Atg2b T C 12: 105,605,618 (GRCm39) D1449G possibly damaging Het
Atg7 G A 6: 114,683,254 (GRCm39) W439* probably null Het
Atp6v0a2 T A 5: 124,789,343 (GRCm39) I370N probably damaging Het
B4galt1 T C 4: 40,807,760 (GRCm39) D347G probably damaging Het
Baz2b C T 2: 59,790,233 (GRCm39) C660Y probably damaging Het
Ccdc88c T C 12: 100,896,801 (GRCm39) Y1390C probably damaging Het
Cdcp1 G A 9: 123,002,837 (GRCm39) Q745* probably null Het
Cep97 G A 16: 55,739,889 (GRCm39) S185L probably damaging Het
Clec4d A G 6: 123,244,020 (GRCm39) H43R probably damaging Het
Cntn3 T A 6: 102,219,094 (GRCm39) M509L probably benign Het
Cntrob A C 11: 69,200,201 (GRCm39) S564R possibly damaging Het
Cyp2j8 T A 4: 96,395,514 (GRCm39) N37I possibly damaging Het
Edc4 A G 8: 106,617,219 (GRCm39) T1029A probably benign Het
Fhip2b A T 14: 70,829,121 (GRCm39) V64E probably damaging Het
Fmnl1 G T 11: 103,062,270 (GRCm39) probably null Het
Fzd6 T A 15: 38,870,783 (GRCm39) M1K probably null Het
Gle1 C A 2: 29,830,293 (GRCm39) T283N probably benign Het
Hsd17b14 T C 7: 45,215,386 (GRCm39) V161A probably damaging Het
Hsf2 T C 10: 57,380,819 (GRCm39) S218P probably benign Het
Ipo7 T A 7: 109,650,020 (GRCm39) C736S probably damaging Het
Itpkb G T 1: 180,241,540 (GRCm39) V737L probably damaging Het
Itpr1 T C 6: 108,466,758 (GRCm39) probably benign Het
Kcnh8 G T 17: 53,110,364 (GRCm39) V192L possibly damaging Het
Kdm3a C A 6: 71,609,234 (GRCm39) probably benign Het
Kif5a T A 10: 127,066,447 (GRCm39) M990L probably benign Het
Klf12 A G 14: 100,260,124 (GRCm39) S202P probably damaging Het
Krt81 T G 15: 101,358,083 (GRCm39) Q390P probably damaging Het
Lrig3 T C 10: 125,844,347 (GRCm39) S604P probably damaging Het
Ms4a1 A T 19: 11,235,612 (GRCm39) V48D probably damaging Het
Mta1 C T 12: 113,100,239 (GRCm39) P688L probably damaging Het
Oas1h T C 5: 121,009,040 (GRCm39) V250A probably damaging Het
Or10c1 A T 17: 37,521,912 (GRCm39) Y277* probably null Het
Or52z13 G T 7: 103,247,128 (GRCm39) G202* probably null Het
P2rx3 T C 2: 84,831,071 (GRCm39) E265G possibly damaging Het
Pdzd8 A G 19: 59,333,718 (GRCm39) I101T possibly damaging Het
Psme4 A T 11: 30,791,589 (GRCm39) N1148I probably benign Het
Rnf213 T C 11: 119,312,195 (GRCm39) L874P probably damaging Het
Sart3 T C 5: 113,889,300 (GRCm39) Y508C probably damaging Het
Sez6l2 T C 7: 126,569,305 (GRCm39) probably benign Het
Slc9b1 C T 3: 135,098,655 (GRCm39) probably benign Het
Stmn3 T C 2: 180,950,573 (GRCm39) K78E possibly damaging Het
Thsd4 T A 9: 60,301,389 (GRCm39) N302I possibly damaging Het
Trdv5 A T 14: 54,386,242 (GRCm39) H74Q probably benign Het
Tubb4b C T 2: 25,113,993 (GRCm39) R77H probably benign Het
Ugt1a6a C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Unc5a T A 13: 55,147,503 (GRCm39) C438S possibly damaging Het
Zan C A 5: 137,440,396 (GRCm39) C1946F unknown Het
Other mutations in Kctd10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Kctd10 APN 5 114,505,410 (GRCm39) missense probably damaging 1.00
IGL00832:Kctd10 APN 5 114,506,997 (GRCm39) splice site probably null
R1666:Kctd10 UTSW 5 114,507,051 (GRCm39) missense probably benign 0.01
R2137:Kctd10 UTSW 5 114,505,389 (GRCm39) missense probably damaging 1.00
R2223:Kctd10 UTSW 5 114,505,410 (GRCm39) missense probably benign 0.26
R3037:Kctd10 UTSW 5 114,513,061 (GRCm39) missense probably damaging 1.00
R3522:Kctd10 UTSW 5 114,512,984 (GRCm39) missense probably damaging 1.00
R5390:Kctd10 UTSW 5 114,503,764 (GRCm39) missense possibly damaging 0.56
R5794:Kctd10 UTSW 5 114,505,398 (GRCm39) missense probably damaging 1.00
R6938:Kctd10 UTSW 5 114,508,191 (GRCm39) nonsense probably null
R8119:Kctd10 UTSW 5 114,505,316 (GRCm39) missense probably damaging 0.98
R8862:Kctd10 UTSW 5 114,503,921 (GRCm39) missense probably damaging 0.98
R9096:Kctd10 UTSW 5 114,508,232 (GRCm39) missense probably damaging 1.00
Z1189:Kctd10 UTSW 5 114,505,458 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-02-15