Incidental Mutation 'R5903:Kctd10'
ID 456437
Institutional Source Beutler Lab
Gene Symbol Kctd10
Ensembl Gene ENSMUSG00000001098
Gene Name potassium channel tetramerisation domain containing 10
MMRRC Submission 044101-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.419) question?
Stock # R5903 (G1)
Quality Score 120
Status Not validated
Chromosome 5
Chromosomal Location 114363567-114380508 bp(-) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 114380462 bp (GRCm38)
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

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

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

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

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

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

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: 65,988,318 V150A unknown Het
Abraxas1 T C 5: 100,817,958 probably null Het
Actl7a G T 4: 56,743,827 R118L probably damaging Het
Atg2b T C 12: 105,639,359 D1449G possibly damaging Het
Atg7 G A 6: 114,706,293 W439* probably null Het
Atp6v0a2 T A 5: 124,712,279 I370N probably damaging Het
B4galt1 T C 4: 40,807,760 D347G probably damaging Het
Baz2b C T 2: 59,959,889 C660Y probably damaging Het
Ccdc88c T C 12: 100,930,542 Y1390C probably damaging Het
Cdcp1 G A 9: 123,173,772 Q745* probably null Het
Cep97 G A 16: 55,919,526 S185L probably damaging Het
Clec4d A G 6: 123,267,061 H43R probably damaging Het
Cntn3 T A 6: 102,242,133 M509L probably benign Het
Cntrob A C 11: 69,309,375 S564R possibly damaging Het
Cyp2j8 T A 4: 96,507,277 N37I possibly damaging Het
Edc4 A G 8: 105,890,587 T1029A probably benign Het
Fam160b2 A T 14: 70,591,681 V64E probably damaging Het
Fmnl1 G T 11: 103,171,444 probably null Het
Fzd6 T A 15: 39,007,388 M1K probably null Het
Gle1 C A 2: 29,940,281 T283N probably benign Het
Hsd17b14 T C 7: 45,565,962 V161A probably damaging Het
Hsf2 T C 10: 57,504,723 S218P probably benign Het
Ipo7 T A 7: 110,050,813 C736S probably damaging Het
Itpkb G T 1: 180,413,975 V737L probably damaging Het
Itpr1 T C 6: 108,489,797 probably benign Het
Kcnh8 G T 17: 52,803,336 V192L possibly damaging Het
Kdm3a C A 6: 71,632,250 probably benign Het
Kif5a T A 10: 127,230,578 M990L probably benign Het
Klf12 A G 14: 100,022,688 S202P probably damaging Het
Krt81 T G 15: 101,460,202 Q390P probably damaging Het
Lrig3 T C 10: 126,008,478 S604P probably damaging Het
Ms4a1 A T 19: 11,258,248 V48D probably damaging Het
Mta1 C T 12: 113,136,619 P688L probably damaging Het
Oas1h T C 5: 120,870,977 V250A probably damaging Het
Olfr618 G T 7: 103,597,921 G202* probably null Het
Olfr95 A T 17: 37,211,021 Y277* probably null Het
P2rx3 T C 2: 85,000,727 E265G possibly damaging Het
Pdzd8 A G 19: 59,345,286 I101T possibly damaging Het
Psme4 A T 11: 30,841,589 N1148I probably benign Het
Rnf213 T C 11: 119,421,369 L874P probably damaging Het
Sart3 T C 5: 113,751,239 Y508C probably damaging Het
Sez6l2 T C 7: 126,970,133 probably benign Het
Slc9b1 C T 3: 135,392,894 probably benign Het
Stmn3 T C 2: 181,308,780 K78E possibly damaging Het
Thsd4 T A 9: 60,394,106 N302I possibly damaging Het
Trdv5 A T 14: 54,148,785 H74Q probably benign Het
Tubb4b C T 2: 25,223,981 R77H probably benign Het
Ugt1a6a C T 1: 88,215,123 P113L probably damaging Het
Unc5a T A 13: 54,999,690 C438S possibly damaging Het
Zan C A 5: 137,442,134 C1946F unknown Het
Other mutations in Kctd10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Kctd10 APN 5 114367349 missense probably damaging 1.00
IGL00832:Kctd10 APN 5 114368936 splice site probably null
R1666:Kctd10 UTSW 5 114368990 missense probably benign 0.01
R2137:Kctd10 UTSW 5 114367328 missense probably damaging 1.00
R2223:Kctd10 UTSW 5 114367349 missense probably benign 0.26
R3037:Kctd10 UTSW 5 114375000 missense probably damaging 1.00
R3522:Kctd10 UTSW 5 114374923 missense probably damaging 1.00
R5390:Kctd10 UTSW 5 114365703 missense possibly damaging 0.56
R5794:Kctd10 UTSW 5 114367337 missense probably damaging 1.00
R6938:Kctd10 UTSW 5 114370130 nonsense probably null
R8119:Kctd10 UTSW 5 114367255 missense probably damaging 0.98
R8862:Kctd10 UTSW 5 114365860 missense probably damaging 0.98
R9096:Kctd10 UTSW 5 114370171 missense probably damaging 1.00
Z1189:Kctd10 UTSW 5 114367397 missense probably damaging 1.00
Predicted Primers
Posted On 2017-02-15