Incidental Mutation 'IGL02639:Klhl29'
ID 301675
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl29
Ensembl Gene ENSMUSG00000020627
Gene Name kelch-like 29
Synonyms Kbtbd9, A230106N14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # IGL02639
Quality Score
Status
Chromosome 12
Chromosomal Location 5127472-5425682 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5187453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 304 (Y304N)
Ref Sequence ENSEMBL: ENSMUSP00000020958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020958] [ENSMUST00000218384]
AlphaFold Q80T74
Predicted Effect probably damaging
Transcript: ENSMUST00000020958
AA Change: Y304N

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020958
Gene: ENSMUSG00000020627
AA Change: Y304N

DomainStartEndE-ValueType
low complexity region 30 49 N/A INTRINSIC
low complexity region 50 75 N/A INTRINSIC
low complexity region 80 94 N/A INTRINSIC
low complexity region 205 219 N/A INTRINSIC
low complexity region 260 280 N/A INTRINSIC
BTB 329 431 2.07e-22 SMART
BACK 436 538 4.88e-32 SMART
Kelch 585 636 5.33e0 SMART
Kelch 637 683 5.42e-5 SMART
Kelch 684 730 5.42e-5 SMART
Kelch 731 778 5.44e-1 SMART
Kelch 779 821 2.54e-1 SMART
Kelch 822 870 4.01e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000218384
AA Change: Y304N

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(5) : Targeted, other(2) Gene trapped(3)

Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik C T 15: 37,430,048 (GRCm39) R71* probably null Het
Abca5 A T 11: 110,178,899 (GRCm39) I1140N possibly damaging Het
Atp6v0a1 T A 11: 100,946,344 (GRCm39) I773N possibly damaging Het
Atp9a A G 2: 168,491,540 (GRCm39) M675T probably damaging Het
Baz1a A G 12: 54,942,810 (GRCm39) probably benign Het
Cd5l T C 3: 87,275,813 (GRCm39) V261A probably damaging Het
Copb1 A G 7: 113,825,830 (GRCm39) probably benign Het
Cul5 T C 9: 53,566,642 (GRCm39) D130G possibly damaging Het
Cyp2j5 T A 4: 96,546,986 (GRCm39) Q176L probably benign Het
Ddo A G 10: 40,523,733 (GRCm39) D241G probably damaging Het
Defa29 A G 8: 21,816,137 (GRCm39) C77R possibly damaging Het
Dpp4 T C 2: 62,182,584 (GRCm39) N566D probably benign Het
Eif1ad14 G T 12: 87,886,269 (GRCm39) T120K probably benign Het
Emilin2 T C 17: 71,581,544 (GRCm39) D394G probably benign Het
Fbf1 T C 11: 116,043,426 (GRCm39) E461G probably benign Het
Fgfr2 A G 7: 129,830,532 (GRCm39) probably benign Het
Fibcd1 G A 2: 31,707,162 (GRCm39) T365M probably damaging Het
Fndc3a A C 14: 72,811,797 (GRCm39) H344Q probably benign Het
Fnip1 T A 11: 54,366,466 (GRCm39) C52* probably null Het
Fto T A 8: 92,136,156 (GRCm39) N143K probably damaging Het
Hells G T 19: 38,926,873 (GRCm39) L84F probably damaging Het
Hydin G A 8: 111,265,081 (GRCm39) V2755I probably benign Het
Irgq C A 7: 24,230,887 (GRCm39) A26E probably damaging Het
Katnip A G 7: 125,471,964 (GRCm39) I1518V probably damaging Het
Muc6 T C 7: 141,235,843 (GRCm39) probably benign Het
Myo15a T C 11: 60,369,447 (GRCm39) F736L probably benign Het
Nynrin G T 14: 56,108,112 (GRCm39) W1073L probably damaging Het
Or10h28 G A 17: 33,488,369 (GRCm39) V224M possibly damaging Het
Or10w1 A T 19: 13,631,960 (GRCm39) T51S possibly damaging Het
Or14c46 A T 7: 85,918,928 (GRCm39) I23N probably damaging Het
Or14j10 A T 17: 37,934,878 (GRCm39) I216N probably benign Het
Or1e29 A T 11: 73,667,371 (GRCm39) C261S probably benign Het
Or51a10 C A 7: 103,698,988 (GRCm39) C191F probably damaging Het
Or52e8b T A 7: 104,673,429 (GRCm39) I253F probably damaging Het
Pdzd2 T A 15: 12,592,329 (GRCm39) K105M probably damaging Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Pola2 A G 19: 6,003,802 (GRCm39) V191A probably benign Het
Slc22a8 A T 19: 8,571,323 (GRCm39) Y18F probably benign Het
Slc26a5 C T 5: 22,024,765 (GRCm39) V440M probably damaging Het
Other mutations in Klhl29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Klhl29 APN 12 5,190,705 (GRCm39) missense probably benign 0.01
IGL03142:Klhl29 APN 12 5,187,603 (GRCm39) missense probably damaging 1.00
bauxite UTSW 12 5,141,347 (GRCm39) missense probably damaging 0.98
Kerosene UTSW 12 5,141,030 (GRCm39) missense probably damaging 0.98
Mineral UTSW 12 5,133,995 (GRCm39) missense probably damaging 0.99
tungsten UTSW 12 5,140,995 (GRCm39) nonsense probably null
N/A - 535:Klhl29 UTSW 12 5,134,019 (GRCm39) missense probably damaging 1.00
R0347:Klhl29 UTSW 12 5,134,354 (GRCm39) missense probably damaging 0.97
R0622:Klhl29 UTSW 12 5,131,224 (GRCm39) missense probably damaging 1.00
R0631:Klhl29 UTSW 12 5,144,883 (GRCm39) missense probably benign 0.08
R0784:Klhl29 UTSW 12 5,131,251 (GRCm39) missense probably damaging 1.00
R1157:Klhl29 UTSW 12 5,140,650 (GRCm39) missense possibly damaging 0.89
R1521:Klhl29 UTSW 12 5,141,307 (GRCm39) missense probably damaging 1.00
R1535:Klhl29 UTSW 12 5,134,486 (GRCm39) missense probably damaging 1.00
R1599:Klhl29 UTSW 12 5,143,538 (GRCm39) missense probably damaging 1.00
R2049:Klhl29 UTSW 12 5,187,876 (GRCm39) missense probably damaging 0.96
R2568:Klhl29 UTSW 12 5,141,350 (GRCm39) missense probably damaging 0.96
R2883:Klhl29 UTSW 12 5,134,036 (GRCm39) missense probably damaging 1.00
R3724:Klhl29 UTSW 12 5,140,603 (GRCm39) missense probably damaging 0.99
R3951:Klhl29 UTSW 12 5,190,660 (GRCm39) missense probably damaging 1.00
R5031:Klhl29 UTSW 12 5,141,334 (GRCm39) missense probably benign 0.05
R5078:Klhl29 UTSW 12 5,143,530 (GRCm39) missense possibly damaging 0.82
R5410:Klhl29 UTSW 12 5,141,366 (GRCm39) missense probably benign 0.36
R5619:Klhl29 UTSW 12 5,190,587 (GRCm39) missense probably benign 0.23
R5681:Klhl29 UTSW 12 5,140,669 (GRCm39) missense possibly damaging 0.56
R6028:Klhl29 UTSW 12 5,140,995 (GRCm39) nonsense probably null
R6294:Klhl29 UTSW 12 5,133,995 (GRCm39) missense probably damaging 0.99
R6394:Klhl29 UTSW 12 5,187,720 (GRCm39) missense probably benign 0.00
R6394:Klhl29 UTSW 12 5,144,830 (GRCm39) nonsense probably null
R6475:Klhl29 UTSW 12 5,141,030 (GRCm39) missense probably damaging 0.98
R6737:Klhl29 UTSW 12 5,260,124 (GRCm39) missense possibly damaging 0.68
R6781:Klhl29 UTSW 12 5,141,347 (GRCm39) missense probably damaging 0.98
R6788:Klhl29 UTSW 12 5,134,393 (GRCm39) missense probably damaging 1.00
R7741:Klhl29 UTSW 12 5,187,500 (GRCm39) missense possibly damaging 0.49
R8709:Klhl29 UTSW 12 5,140,681 (GRCm39) missense probably damaging 1.00
R8886:Klhl29 UTSW 12 5,187,542 (GRCm39) missense possibly damaging 0.48
R8888:Klhl29 UTSW 12 5,187,542 (GRCm39) missense possibly damaging 0.48
R8954:Klhl29 UTSW 12 5,187,542 (GRCm39) missense possibly damaging 0.48
R8971:Klhl29 UTSW 12 5,190,710 (GRCm39) critical splice acceptor site probably null
R9031:Klhl29 UTSW 12 5,140,537 (GRCm39) missense probably damaging 1.00
R9066:Klhl29 UTSW 12 5,260,114 (GRCm39) missense probably benign 0.01
R9432:Klhl29 UTSW 12 5,260,056 (GRCm39) missense probably benign 0.00
R9509:Klhl29 UTSW 12 5,190,629 (GRCm39) missense probably damaging 0.98
R9733:Klhl29 UTSW 12 5,190,641 (GRCm39) missense probably damaging 1.00
Z1177:Klhl29 UTSW 12 5,131,152 (GRCm39) makesense probably null
Posted On 2015-04-16