Incidental Mutation 'IGL01358:Kctd21'
ID75594
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kctd21
Ensembl Gene ENSMUSG00000044952
Gene Namepotassium channel tetramerisation domain containing 21
SynonymsEG622320
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock #IGL01358
Quality Score
Status
Chromosome7
Chromosomal Location97332327-97350213 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 97347374 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 18 (L18Q)
Ref Sequence ENSEMBL: ENSMUSP00000051316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054107]
Predicted Effect probably damaging
Transcript: ENSMUST00000054107
AA Change: L18Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051316
Gene: ENSMUSG00000044952
AA Change: L18Q

DomainStartEndE-ValueType
BTB 3 104 6.39e-14 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A G 7: 27,636,154 Y316C probably damaging Het
Atp6v0a4 T G 6: 38,074,210 D411A probably damaging Het
Calr3 A T 8: 72,427,213 Y178* probably null Het
Ces1e A G 8: 93,214,150 L298P probably damaging Het
Clk3 T C 9: 57,754,592 T391A probably damaging Het
Cr2 A G 1: 195,159,820 I275T probably damaging Het
Cul9 G T 17: 46,538,314 P635H probably damaging Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dscam A T 16: 96,610,343 S1778T possibly damaging Het
Dsg2 T A 18: 20,601,793 Y943N probably damaging Het
Eml1 A T 12: 108,514,468 T398S probably benign Het
Epha3 G A 16: 63,595,746 probably benign Het
Gm14548 A G 7: 3,895,687 V254A probably benign Het
Hacl1 A T 14: 31,626,417 M200K probably benign Het
Ighmbp2 T A 19: 3,268,817 S420C probably damaging Het
Kcnt1 T A 2: 25,916,005 I1200N probably damaging Het
Krt78 A C 15: 101,946,263 S1038A probably benign Het
Lrp2 C A 2: 69,552,470 probably benign Het
Lrrc41 T A 4: 116,075,587 V60D probably benign Het
Mafk T C 5: 139,800,493 S149P probably damaging Het
Mest T A 6: 30,746,331 probably benign Het
Nlrp1b G A 11: 71,181,856 T387I possibly damaging Het
Notch3 C T 17: 32,144,747 D1140N probably damaging Het
Nxph2 A G 2: 23,400,074 N146S probably damaging Het
Olfm1 T C 2: 28,229,495 C381R probably damaging Het
Olfr504 T A 7: 108,565,202 R198W probably benign Het
Olfr510 C T 7: 108,667,662 P82L possibly damaging Het
Parp11 C T 6: 127,471,563 Q48* probably null Het
Pgc T C 17: 47,730,666 V175A probably benign Het
Plxna1 G T 6: 89,322,750 T1679N probably damaging Het
Pnpt1 G T 11: 29,138,425 L229F possibly damaging Het
Ppp1r12b A T 1: 134,892,159 L282Q probably damaging Het
Rag2 C A 2: 101,630,020 A225D possibly damaging Het
Ralgps1 T C 2: 33,143,049 D456G possibly damaging Het
Rasgrf2 T A 13: 91,982,630 T170S probably benign Het
Rel C T 11: 23,761,155 S4N probably benign Het
Rims3 C T 4: 120,891,503 S307F possibly damaging Het
Rnf123 A G 9: 108,069,182 L290P probably damaging Het
Rtn4r G T 16: 18,151,396 M229I possibly damaging Het
Rusc2 G A 4: 43,426,116 R1407Q probably damaging Het
Sec23ip A T 7: 128,752,797 Q259L possibly damaging Het
Slc24a4 G A 12: 102,223,635 C204Y probably benign Het
Slc27a3 T C 3: 90,386,552 T542A probably damaging Het
Smarcal1 A T 1: 72,616,565 I668F possibly damaging Het
Snap91 C A 9: 86,806,560 V311F probably damaging Het
Sp8 T A 12: 118,848,970 S187T probably damaging Het
Tcerg1 T C 18: 42,524,277 S275P unknown Het
Vwce T A 19: 10,664,409 V833D possibly damaging Het
Zbtb8b A G 4: 129,433,259 S38P probably damaging Het
Zfp598 T C 17: 24,681,424 probably benign Het
Zkscan4 G A 13: 21,484,305 E309K possibly damaging Het
Other mutations in Kctd21
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0123:Kctd21 UTSW 7 97348091 missense probably benign 0.04
R0134:Kctd21 UTSW 7 97348091 missense probably benign 0.04
R0225:Kctd21 UTSW 7 97348091 missense probably benign 0.04
R0469:Kctd21 UTSW 7 97347541 missense probably damaging 1.00
R0510:Kctd21 UTSW 7 97347541 missense probably damaging 1.00
R0606:Kctd21 UTSW 7 97347601 missense probably benign 0.01
R1438:Kctd21 UTSW 7 97347497 missense probably damaging 0.98
R4625:Kctd21 UTSW 7 97347575 missense probably damaging 1.00
R4626:Kctd21 UTSW 7 97347575 missense probably damaging 1.00
R4628:Kctd21 UTSW 7 97347575 missense probably damaging 1.00
R4629:Kctd21 UTSW 7 97347575 missense probably damaging 1.00
R5348:Kctd21 UTSW 7 97347970 missense probably benign 0.33
R6075:Kctd21 UTSW 7 97347407 missense probably damaging 1.00
R6452:Kctd21 UTSW 7 97347662 missense probably benign 0.04
R6736:Kctd21 UTSW 7 97348084 missense probably damaging 0.99
R7402:Kctd21 UTSW 7 97347763 missense possibly damaging 0.84
Posted On2013-10-07