Incidental Mutation 'R0365:Klhl26'
ID 36348
Institutional Source Beutler Lab
Gene Symbol Klhl26
Ensembl Gene ENSMUSG00000055707
Gene Name kelch-like 26
Synonyms C630013N10Rik
MMRRC Submission 038571-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0365 (G1)
Quality Score 126
Status Not validated
Chromosome 8
Chromosomal Location 70902869-70929618 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70904479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 443 (D443G)
Ref Sequence ENSEMBL: ENSMUSP00000147385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066597] [ENSMUST00000166976] [ENSMUST00000209415] [ENSMUST00000209567] [ENSMUST00000210250]
AlphaFold Q8BGY4
Predicted Effect possibly damaging
Transcript: ENSMUST00000066597
AA Change: D477G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000069077
Gene: ENSMUSG00000055707
AA Change: D477G

DomainStartEndE-ValueType
low complexity region 3 19 N/A INTRINSIC
BTB 54 151 1.56e-26 SMART
BACK 156 257 1.62e-28 SMART
Blast:Kelch 301 352 4e-27 BLAST
Kelch 353 404 1.44e0 SMART
Kelch 405 451 2.86e-4 SMART
Kelch 452 499 1.21e-2 SMART
Kelch 500 550 4.27e-3 SMART
Kelch 551 597 4.93e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000166976
AA Change: D416G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129607
Gene: ENSMUSG00000055707
AA Change: D416G

DomainStartEndE-ValueType
Pfam:BTB 19 89 1.7e-13 PFAM
BACK 95 196 1.62e-28 SMART
Blast:Kelch 240 291 4e-27 BLAST
Kelch 292 343 1.44e0 SMART
Kelch 344 390 2.86e-4 SMART
Kelch 391 438 1.21e-2 SMART
Kelch 439 489 4.27e-3 SMART
Kelch 490 536 4.93e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209415
Predicted Effect possibly damaging
Transcript: ENSMUST00000209567
AA Change: D396G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000210250
AA Change: D443G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,892,088 (GRCm39) M173K probably benign Het
Abcb1b T A 5: 8,856,009 (GRCm39) F39Y probably damaging Het
Acbd3 A G 1: 180,566,177 (GRCm39) Y290C probably damaging Het
Alg12 A C 15: 88,700,352 (GRCm39) I28R possibly damaging Het
Amer2 A T 14: 60,616,984 (GRCm39) D393V probably damaging Het
Anxa5 A T 3: 36,511,618 (GRCm39) V153D probably damaging Het
Arl5a T C 2: 52,306,141 (GRCm39) M64V probably benign Het
Astn1 T C 1: 158,516,118 (GRCm39) L1236P probably damaging Het
Atg2a T C 19: 6,297,713 (GRCm39) S424P possibly damaging Het
AW551984 A T 9: 39,510,617 (GRCm39) S239R probably benign Het
Baz1b T C 5: 135,268,985 (GRCm39) V1278A probably benign Het
Cbfa2t3 G T 8: 123,361,799 (GRCm39) L408I probably benign Het
Cdc27 A T 11: 104,419,250 (GRCm39) N227K possibly damaging Het
Cdh20 A T 1: 110,036,486 (GRCm39) Q555H probably damaging Het
Cdh23 T A 10: 60,215,094 (GRCm39) N1412I probably damaging Het
Cdhr2 T C 13: 54,866,105 (GRCm39) S302P probably benign Het
Cep350 C A 1: 155,782,317 (GRCm39) E1563D probably benign Het
Cfap221 T A 1: 119,912,753 (GRCm39) E107V probably benign Het
Col6a3 C A 1: 90,715,938 (GRCm39) R1641L unknown Het
Coro6 A T 11: 77,354,916 (GRCm39) I60F probably benign Het
Dennd2b A T 7: 109,138,156 (GRCm39) V753E probably damaging Het
Dock10 G T 1: 80,573,400 (GRCm39) N245K probably damaging Het
Epb41l2 T A 10: 25,345,119 (GRCm39) N286K probably damaging Het
Fam83g G T 11: 61,593,935 (GRCm39) E490* probably null Het
Gnb1l T C 16: 18,371,211 (GRCm39) I234T possibly damaging Het
Gtf3a T A 5: 146,885,747 (GRCm39) W53R probably damaging Het
Ikzf4 T C 10: 128,470,276 (GRCm39) I415V probably benign Het
Il11ra1 T C 4: 41,767,527 (GRCm39) V293A probably damaging Het
Il17ra G A 6: 120,455,410 (GRCm39) V340M probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Kif24 A T 4: 41,428,731 (GRCm39) H76Q probably benign Het
Klhl25 T C 7: 75,516,264 (GRCm39) L390P probably damaging Het
Lama3 A T 18: 12,640,064 (GRCm39) R86S probably damaging Het
Lrrc24 G A 15: 76,599,984 (GRCm39) A385V probably benign Het
Maea C T 5: 33,517,787 (GRCm39) A109V probably benign Het
Mtor A T 4: 148,570,507 (GRCm39) Y1188F probably benign Het
Nccrp1 T C 7: 28,243,977 (GRCm39) D202G probably damaging Het
Nsun4 A T 4: 115,901,935 (GRCm39) L177Q probably damaging Het
Nup155 C T 15: 8,161,027 (GRCm39) R571W probably damaging Het
Nup160 T A 2: 90,539,188 (GRCm39) M789K probably benign Het
Odad2 T A 18: 7,217,800 (GRCm39) H638L probably benign Het
Or5an1c A G 19: 12,218,440 (GRCm39) F195S probably benign Het
Or5p50 A T 7: 107,422,124 (GRCm39) L184* probably null Het
Or8d2b A T 9: 38,788,481 (GRCm39) H3L probably benign Het
Pgpep1 G T 8: 71,105,174 (GRCm39) probably null Het
Pkd1l2 C T 8: 117,748,589 (GRCm39) V1861M probably benign Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plin4 G T 17: 56,411,667 (GRCm39) T788K possibly damaging Het
Ppp3r2 T C 4: 49,681,902 (GRCm39) D16G possibly damaging Het
Pramel22 G T 4: 143,382,071 (GRCm39) Y208* probably null Het
Prdm16 A T 4: 154,426,513 (GRCm39) I424N probably damaging Het
Psen2 T A 1: 180,056,410 (GRCm39) I396F probably damaging Het
Psip1 C T 4: 83,403,949 (GRCm39) probably null Het
Ptprd G A 4: 76,055,083 (GRCm39) T215I probably damaging Het
Rec114 A G 9: 58,648,822 (GRCm39) S2P probably benign Het
Rexo1 A G 10: 80,378,410 (GRCm39) I1181T probably damaging Het
Rfx7 T C 9: 72,527,118 (GRCm39) M1436T probably benign Het
Rnf213 T A 11: 119,316,937 (GRCm39) V1020E possibly damaging Het
Rorc G A 3: 94,296,069 (GRCm39) G83S probably damaging Het
Ryr2 T G 13: 11,683,725 (GRCm39) Q3113P possibly damaging Het
Shank1 T C 7: 44,003,401 (GRCm39) S1698P possibly damaging Het
Slc2a2 T C 3: 28,762,828 (GRCm39) probably null Het
Slc5a9 A T 4: 111,749,033 (GRCm39) Y98* probably null Het
Smc6 T C 12: 11,333,175 (GRCm39) probably null Het
Sptb G T 12: 76,647,157 (GRCm39) F1959L probably benign Het
Srgap1 T A 10: 121,621,610 (GRCm39) H984L possibly damaging Het
Ssc5d T A 7: 4,931,466 (GRCm39) C224* probably null Het
Ston2 A T 12: 91,614,634 (GRCm39) H591Q probably benign Het
Tbx3 C T 5: 119,813,315 (GRCm39) A222V possibly damaging Het
Thsd7a A G 6: 12,321,886 (GRCm39) probably null Het
Usp9y T C Y: 1,364,732 (GRCm39) D1027G probably damaging Het
Wnt5a C T 14: 28,240,461 (GRCm39) R184* probably null Het
Zfpm2 A G 15: 40,637,462 (GRCm39) E74G possibly damaging Het
Zwint C A 10: 72,493,127 (GRCm39) S223* probably null Het
Other mutations in Klhl26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01655:Klhl26 APN 8 70,904,533 (GRCm39) missense probably damaging 1.00
IGL02508:Klhl26 APN 8 70,905,381 (GRCm39) missense probably damaging 1.00
IGL03089:Klhl26 APN 8 70,908,283 (GRCm39) missense probably benign 0.05
IGL03144:Klhl26 APN 8 70,905,214 (GRCm39) missense probably damaging 1.00
R0408:Klhl26 UTSW 8 70,905,130 (GRCm39) missense probably damaging 1.00
R0494:Klhl26 UTSW 8 70,904,251 (GRCm39) missense probably damaging 1.00
R1889:Klhl26 UTSW 8 70,904,383 (GRCm39) missense probably damaging 0.99
R1940:Klhl26 UTSW 8 70,904,911 (GRCm39) missense probably damaging 1.00
R3902:Klhl26 UTSW 8 70,905,016 (GRCm39) missense probably damaging 0.98
R4458:Klhl26 UTSW 8 70,905,342 (GRCm39) missense possibly damaging 0.89
R4459:Klhl26 UTSW 8 70,904,194 (GRCm39) missense probably damaging 1.00
R4460:Klhl26 UTSW 8 70,904,194 (GRCm39) missense probably damaging 1.00
R4461:Klhl26 UTSW 8 70,904,194 (GRCm39) missense probably damaging 1.00
R5135:Klhl26 UTSW 8 70,905,368 (GRCm39) missense probably benign 0.19
R5334:Klhl26 UTSW 8 70,904,968 (GRCm39) missense probably damaging 1.00
R5342:Klhl26 UTSW 8 70,908,215 (GRCm39) missense probably damaging 1.00
R5711:Klhl26 UTSW 8 70,904,974 (GRCm39) missense probably damaging 0.98
R5724:Klhl26 UTSW 8 70,904,404 (GRCm39) missense probably damaging 1.00
R5965:Klhl26 UTSW 8 70,905,381 (GRCm39) missense probably damaging 1.00
R7319:Klhl26 UTSW 8 70,905,592 (GRCm39) missense probably damaging 0.99
R7390:Klhl26 UTSW 8 70,905,499 (GRCm39) missense probably damaging 0.98
R8917:Klhl26 UTSW 8 70,905,455 (GRCm39) missense possibly damaging 0.90
R9115:Klhl26 UTSW 8 70,904,896 (GRCm39) missense possibly damaging 0.80
R9386:Klhl26 UTSW 8 70,904,156 (GRCm39) missense probably benign 0.32
R9471:Klhl26 UTSW 8 70,904,803 (GRCm39) missense probably damaging 1.00
R9545:Klhl26 UTSW 8 70,904,164 (GRCm39) missense probably damaging 1.00
Z1088:Klhl26 UTSW 8 70,904,449 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCTAGTAGACAGCAGCCAGCTTCC -3'
(R):5'- CAGCAAGGTGTTCCAGTTACCTGAG -3'

Sequencing Primer
(F):5'- TCGCATGGGTGTCACACTG -3'
(R):5'- TGCTACCGCTATGATCCACAG -3'
Posted On 2013-05-09