Incidental Mutation 'IGL03142:Klhl29'
ID 410736
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 # IGL03142
Quality Score
Status
Chromosome 12
Chromosomal Location 5127472-5425682 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5187603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 254 (N254Y)
Ref Sequence ENSEMBL: ENSMUSP00000151284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020958] [ENSMUST00000218384]
AlphaFold Q80T74
Predicted Effect probably damaging
Transcript: ENSMUST00000020958
AA Change: N254Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020958
Gene: ENSMUSG00000020627
AA Change: N254Y

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 probably damaging
Transcript: ENSMUST00000218384
AA Change: N254Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc88c T C 12: 100,913,457 (GRCm39) S523G probably damaging Het
Ccnb1 A T 13: 100,920,039 (GRCm39) D157E probably damaging Het
Cep43 T A 17: 8,411,041 (GRCm39) S331R probably damaging Het
Cfap70 T C 14: 20,447,283 (GRCm39) T1055A probably damaging Het
Fn1 C A 1: 71,676,455 (GRCm39) R592L probably damaging Het
Frmpd4 T A X: 166,262,479 (GRCm39) D550V possibly damaging Het
Gcm2 A G 13: 41,256,711 (GRCm39) V346A probably benign Het
Gm10112 C T X: 110,209,673 (GRCm39) T4I probably damaging Het
Gm3115 T C 14: 4,084,302 (GRCm38) probably benign Het
Has2 A T 15: 56,545,491 (GRCm39) I37N possibly damaging Het
Hmgn3 A G 9: 83,028,482 (GRCm39) probably benign Het
Kti12 A G 4: 108,705,362 (GRCm39) Y92C probably damaging Het
Lyset G A 12: 102,710,933 (GRCm39) S52N probably damaging Het
Mgat5 A C 1: 127,339,960 (GRCm39) Q447P probably damaging Het
Mlh3 C A 12: 85,297,075 (GRCm39) probably null Het
Mrpl45 T C 11: 97,206,751 (GRCm39) W18R probably benign Het
Mtor A G 4: 148,538,356 (GRCm39) D138G probably benign Het
Mycbp2 C T 14: 103,536,212 (GRCm39) C246Y probably damaging Het
Mylk4 A T 13: 32,904,582 (GRCm39) V415E probably damaging Het
Olfm3 A T 3: 114,890,679 (GRCm39) Q124L probably damaging Het
Or4d11 A T 19: 12,013,752 (GRCm39) M118K probably damaging Het
Pam C T 1: 97,822,111 (GRCm39) G298R probably damaging Het
Pappa2 A C 1: 158,682,501 (GRCm39) I849R probably damaging Het
Pde3a T A 6: 141,438,025 (GRCm39) D1031E probably benign Het
Pik3cb A T 9: 98,947,615 (GRCm39) S521T probably benign Het
Pkn1 A G 8: 84,397,652 (GRCm39) F824L possibly damaging Het
Pspn C T 17: 57,306,566 (GRCm39) R121Q probably benign Het
Ric1 A G 19: 29,578,380 (GRCm39) D1195G possibly damaging Het
Sin3b A G 8: 73,471,196 (GRCm39) D381G probably damaging Het
Slc37a3 T C 6: 39,336,919 (GRCm39) probably null Het
Smtn T A 11: 3,482,601 (GRCm39) K124* probably null Het
Tbce A G 13: 14,194,449 (GRCm39) V70A possibly damaging Het
Tti1 A G 2: 157,842,597 (GRCm39) Y811H probably damaging Het
Uggt2 T C 14: 119,235,603 (GRCm39) Y1424C probably damaging Het
Upf1 A G 8: 70,785,977 (GRCm39) V994A probably benign Het
Vmn2r121 T C X: 123,042,635 (GRCm39) D174G possibly damaging Het
Other mutations in Klhl29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Klhl29 APN 12 5,190,705 (GRCm39) missense probably benign 0.01
IGL02639:Klhl29 APN 12 5,187,453 (GRCm39) missense probably damaging 0.96
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 2016-08-02