Incidental Mutation 'IGL00955:Kctd4'
ID28969
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kctd4
Ensembl Gene ENSMUSG00000046523
Gene Namepotassium channel tetramerisation domain containing 4
Synonyms2210017A09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.191) question?
Stock #IGL00955
Quality Score
Status
Chromosome14
Chromosomal Location75955009-75966206 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 75963228 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 213 (D213G)
Ref Sequence ENSEMBL: ENSMUSP00000061734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050120] [ENSMUST00000088922]
Predicted Effect probably damaging
Transcript: ENSMUST00000050120
AA Change: D213G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000061734
Gene: ENSMUSG00000046523
AA Change: D213G

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
BTB 33 134 2.3e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000088922
SMART Domains Protein: ENSMUSP00000086312
Gene: ENSMUSG00000067995

DomainStartEndE-ValueType
Pfam:TFIIF_beta 7 105 6.7e-19 PFAM
Pfam:TFIIF_beta 99 240 1e-44 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl11 A T 14: 61,311,242 Q167L probably benign Het
Ces3a T A 8: 105,050,570 V175E probably damaging Het
Cherp C T 8: 72,470,194 E140K probably damaging Het
Clpx A T 9: 65,324,270 T546S probably damaging Het
Csgalnact2 A G 6: 118,129,264 L31P probably damaging Het
Cxcr1 A T 1: 74,192,220 F214L probably benign Het
Cyp2c67 T A 19: 39,643,385 T123S possibly damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dzank1 G A 2: 144,490,174 T414I probably benign Het
Erich3 A G 3: 154,748,519 I641V probably benign Het
Gtf2e1 A T 16: 37,535,920 D83E possibly damaging Het
Hars2 T C 18: 36,789,357 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnh2 T C 5: 24,324,966 D372G probably damaging Het
Kcnk2 A T 1: 189,243,014 I264N probably damaging Het
Lhx9 T C 1: 138,828,680 T323A possibly damaging Het
Lilra6 C A 7: 3,911,404 probably benign Het
Meig1 T C 2: 3,409,274 D63G probably damaging Het
Mov10l1 A G 15: 88,994,989 Y184C probably damaging Het
Mrpl24 T A 3: 87,922,219 L91* probably null Het
Mup11 C T 4: 60,659,550 R175H probably benign Het
Nbea T C 3: 56,005,472 K965E possibly damaging Het
Olfr598 C A 7: 103,329,321 H278Q probably damaging Het
Papss1 G A 3: 131,599,949 E252K probably benign Het
Robo2 A T 16: 74,015,972 L278Q probably damaging Het
Sned1 A T 1: 93,274,403 I638F probably damaging Het
Spin1 T C 13: 51,144,541 probably null Het
Taar9 T C 10: 24,109,531 T2A probably benign Het
Tbc1d8b T C X: 139,725,880 probably null Het
Other mutations in Kctd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00806:Kctd4 APN 14 75963008 missense probably benign 0.17
IGL03123:Kctd4 APN 14 75962978 missense possibly damaging 0.80
wellwater UTSW 14 75962597 intron probably benign
R1526:Kctd4 UTSW 14 75963083 missense probably benign 0.00
R3780:Kctd4 UTSW 14 75962811 missense probably benign 0.10
R3803:Kctd4 UTSW 14 75963286 missense probably benign 0.01
R4821:Kctd4 UTSW 14 75962777 missense probably benign 0.00
R5192:Kctd4 UTSW 14 75962687 missense probably benign 0.01
R5196:Kctd4 UTSW 14 75962687 missense probably benign 0.01
R5366:Kctd4 UTSW 14 75962819 missense probably damaging 1.00
R6328:Kctd4 UTSW 14 75962597 intron probably benign
R6818:Kctd4 UTSW 14 75963308 missense probably damaging 0.99
X0063:Kctd4 UTSW 14 75963003 missense possibly damaging 0.49
Posted On2013-04-17