Incidental Mutation 'R6394:Klhl29'
ID 515969
Institutional Source Beutler Lab
Gene Symbol Klhl29
Ensembl Gene ENSMUSG00000020627
Gene Name kelch-like 29
Synonyms Kbtbd9, A230106N14Rik
MMRRC Submission 044543-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R6394 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 5127472-5425682 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 5144830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 423 (C423*)
Ref Sequence ENSEMBL: ENSMUSP00000151284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020958] [ENSMUST00000218384]
AlphaFold Q80T74
Predicted Effect probably null
Transcript: ENSMUST00000020958
AA Change: C423*
SMART Domains Protein: ENSMUSP00000020958
Gene: ENSMUSG00000020627
AA Change: C423*

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 null
Transcript: ENSMUST00000218384
AA Change: C423*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,760,029 (GRCm39) probably null Het
Alpi T A 1: 87,028,428 (GRCm39) Y154F possibly damaging Het
Als2 A T 1: 59,206,356 (GRCm39) F1635I probably damaging Het
Anxa1 C T 19: 20,361,213 (GRCm39) V60M probably damaging Het
Atp10b A G 11: 43,116,464 (GRCm39) Y937C probably damaging Het
Brd4 C A 17: 32,443,121 (GRCm39) E167* probably null Het
Cacna1h G A 17: 25,606,455 (GRCm39) T1048I probably benign Het
Ccdc113 A G 8: 96,283,820 (GRCm39) D298G probably benign Het
Cfap100 T A 6: 90,394,605 (GRCm39) N74I possibly damaging Het
Chd8 A T 14: 52,440,042 (GRCm39) H4Q possibly damaging Het
Clcn1 A G 6: 42,284,524 (GRCm39) T621A possibly damaging Het
Clcn1 A G 6: 42,290,172 (GRCm39) T843A possibly damaging Het
Clcn3 C T 8: 61,394,325 (GRCm39) R68Q probably damaging Het
Dcaf13 T A 15: 39,007,132 (GRCm39) N355K probably benign Het
Dnah6 A T 6: 73,132,401 (GRCm39) C1100* probably null Het
Dync2h1 A T 9: 7,168,331 (GRCm39) V428E probably damaging Het
E230025N22Rik T C 18: 36,819,839 (GRCm39) E317G probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Evc2 C A 5: 37,535,619 (GRCm39) D431E probably damaging Het
Gcm2 T G 13: 41,263,373 (GRCm39) T20P probably damaging Het
Gdf9 A G 11: 53,327,524 (GRCm39) Y160C probably damaging Het
Gm8220 A G 14: 44,523,134 (GRCm39) probably benign Het
Gpalpp1 A T 14: 76,344,852 (GRCm39) S44T possibly damaging Het
Grip2 T C 6: 91,764,182 (GRCm39) Y134C probably damaging Het
Hephl1 A G 9: 14,985,397 (GRCm39) F753S probably benign Het
Herc1 A G 9: 66,302,341 (GRCm39) T727A probably damaging Het
Herc2 A G 7: 55,865,729 (GRCm39) E4232G probably damaging Het
Ifi207 A G 1: 173,556,581 (GRCm39) L726P probably benign Het
Itga11 T A 9: 62,642,548 (GRCm39) probably null Het
Jrkl A C 9: 13,245,495 (GRCm39) Y55* probably null Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Kif18b A G 11: 102,805,236 (GRCm39) V303A probably damaging Het
Lamp5 A G 2: 135,902,929 (GRCm39) D216G possibly damaging Het
Leo1 T A 9: 75,352,752 (GRCm39) D98E probably benign Het
Map3k3 T C 11: 106,039,709 (GRCm39) V283A probably benign Het
Med12l A G 3: 59,142,508 (GRCm39) K902E probably damaging Het
Mmp1b C A 9: 7,386,316 (GRCm39) D202Y probably benign Het
Muc21 A T 17: 35,931,058 (GRCm39) probably benign Het
Onecut3 A G 10: 80,331,847 (GRCm39) I336V probably damaging Het
Oprl1 C T 2: 181,360,795 (GRCm39) R257C probably damaging Het
Or10g9 T C 9: 39,912,001 (GRCm39) Q174R probably benign Het
Or10h1 G A 17: 33,418,487 (GRCm39) G155D probably damaging Het
Or4c11b C T 2: 88,625,296 (GRCm39) T190I probably benign Het
Or56b1 T A 7: 104,284,909 (GRCm39) N9K possibly damaging Het
Or56b1 T C 7: 104,285,234 (GRCm39) S118P possibly damaging Het
Or5p64 C T 7: 107,854,970 (GRCm39) R125H possibly damaging Het
Or6c69 G T 10: 129,747,789 (GRCm39) D119E probably damaging Het
Osbpl6 T C 2: 76,386,298 (GRCm39) V207A probably benign Het
Pde3a A T 6: 141,433,237 (GRCm39) H756L probably damaging Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Phyh A G 2: 4,940,814 (GRCm39) D238G probably benign Het
Pnliprp2 T A 19: 58,750,030 (GRCm39) N92K probably benign Het
Pole3 T C 4: 62,442,263 (GRCm39) probably benign Het
Ppm1d T C 11: 85,230,498 (GRCm39) V372A probably benign Het
Prpf40a A T 2: 53,034,890 (GRCm39) I766N probably damaging Het
Prr5 T A 15: 84,583,925 (GRCm39) V175E probably damaging Het
Prss59 A T 6: 40,898,726 (GRCm39) L174* probably null Het
Ptprq T A 10: 107,478,804 (GRCm39) K1280* probably null Het
Rbp2 T A 9: 98,389,873 (GRCm39) V95E possibly damaging Het
Rictor T C 15: 6,798,790 (GRCm39) F346L possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Scn10a T A 9: 119,490,386 (GRCm39) I519F probably benign Het
Setd5 T G 6: 113,092,505 (GRCm39) V295G probably damaging Het
Shcbp1 A T 8: 4,786,176 (GRCm39) M642K probably damaging Het
Slc13a3 C T 2: 165,276,017 (GRCm39) G243E probably damaging Het
Smg9 T C 7: 24,121,732 (GRCm39) Y498H probably damaging Het
Sox5 T C 6: 143,987,039 (GRCm39) D175G probably damaging Het
Stard7 A G 2: 127,126,161 (GRCm39) D71G probably damaging Het
Stxbp5 A T 10: 9,774,975 (GRCm39) Y59* probably null Het
Supt6 G A 11: 78,121,891 (GRCm39) R254C probably damaging Het
Syne2 C T 12: 76,037,269 (GRCm39) T3817I probably benign Het
Tas2r124 T A 6: 132,732,039 (GRCm39) I116N probably damaging Het
Trim9 T A 12: 70,301,987 (GRCm39) E550D possibly damaging Het
Vmn2r50 A G 7: 9,774,253 (GRCm39) S548P probably damaging Het
Zmynd8 C A 2: 165,687,943 (GRCm39) E126* probably null Het
Zswim9 A T 7: 12,994,889 (GRCm39) S422R probably 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
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
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
Predicted Primers PCR Primer
(F):5'- CATTCATTCAGGGCTTAGAGGC -3'
(R):5'- CTGAGGTGTACAGGGAGATCTG -3'

Sequencing Primer
(F):5'- CTTAGAGGCCAGCTCAGAGTG -3'
(R):5'- ATCTGGCCCTGTGAGGAAG -3'
Posted On 2018-05-04