Incidental Mutation 'R4461:Klhl26'
ID 330153
Institutional Source Beutler Lab
Gene Symbol Klhl26
Ensembl Gene ENSMUSG00000055707
Gene Name kelch-like 26
Synonyms C630013N10Rik
MMRRC Submission 041720-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4461 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 70902869-70929618 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70904194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 538 (Y538C)
Ref Sequence ENSEMBL: ENSMUSP00000147385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066597] [ENSMUST00000166976] [ENSMUST00000209415] [ENSMUST00000209567] [ENSMUST00000210250]
AlphaFold Q8BGY4
Predicted Effect probably damaging
Transcript: ENSMUST00000066597
AA Change: Y572C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069077
Gene: ENSMUSG00000055707
AA Change: Y572C

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 probably damaging
Transcript: ENSMUST00000166976
AA Change: Y511C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129607
Gene: ENSMUSG00000055707
AA Change: Y511C

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 probably damaging
Transcript: ENSMUST00000209567
AA Change: Y491C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210250
AA Change: Y538C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9440 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 T C 17: 66,292,932 (GRCm39) probably null Het
Apex1 T C 14: 51,163,970 (GRCm39) V165A probably damaging Het
Btbd17 C T 11: 114,684,815 (GRCm39) D75N possibly damaging Het
Chd2 T C 7: 73,190,622 (GRCm39) probably benign Het
Coq10a T C 10: 128,200,347 (GRCm39) N138S possibly damaging Het
Ctbp1 A T 5: 33,408,357 (GRCm39) Y192N probably damaging Het
Cx3cl1 A G 8: 95,507,184 (GRCm39) *396W probably null Het
D6Ertd527e T C 6: 87,088,299 (GRCm39) I154T unknown Het
Dao T A 5: 114,157,987 (GRCm39) V203E probably damaging Het
Egr4 G A 6: 85,489,322 (GRCm39) A246V probably damaging Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
H2-Eb2 T A 17: 34,552,497 (GRCm39) V114E possibly damaging Het
Hpgds A G 6: 65,100,618 (GRCm39) L120P probably damaging Het
Ikbke C T 1: 131,193,659 (GRCm39) V464I probably benign Het
Kank2 G A 9: 21,706,041 (GRCm39) Q326* probably null Het
Klkb1 A G 8: 45,726,612 (GRCm39) S464P probably damaging Het
Kmt2a A G 9: 44,760,263 (GRCm39) Y529H probably damaging Het
Kmt2c A G 5: 25,504,874 (GRCm39) V3478A probably benign Het
Knl1 A C 2: 118,890,080 (GRCm39) N44T probably benign Het
Letm2 A G 8: 26,076,715 (GRCm39) C296R probably damaging Het
Lrrc37a A G 11: 103,355,180 (GRCm39) probably null Het
Med20 T C 17: 47,929,842 (GRCm39) V93A probably benign Het
Mtmr11 T C 3: 96,075,207 (GRCm39) probably benign Het
Muc1 A T 3: 89,138,870 (GRCm39) D493V probably damaging Het
Nek2 C T 1: 191,554,827 (GRCm39) P180S probably damaging Het
Nin A T 12: 70,089,359 (GRCm39) M1352K probably benign Het
Or5aq1 T C 2: 86,966,005 (GRCm39) H220R probably benign Het
P3h3 A T 6: 124,822,531 (GRCm39) S547T probably benign Het
Pik3c2g C T 6: 139,787,407 (GRCm39) probably benign Het
Pkd1l3 A G 8: 110,359,345 (GRCm39) probably null Het
Pzp T C 6: 128,501,003 (GRCm39) I118M probably benign Het
Rps6ka5 C A 12: 100,537,123 (GRCm39) D536Y probably damaging Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Siglece T C 7: 43,300,929 (GRCm39) Q462R probably benign Het
Sirt3 T C 7: 140,444,913 (GRCm39) D295G possibly damaging Het
Snph G A 2: 151,435,767 (GRCm39) S318L probably benign Het
Snx18 T C 13: 113,753,731 (GRCm39) T401A probably damaging Het
Tefm A G 11: 80,028,875 (GRCm39) probably null Het
Thada T C 17: 84,733,665 (GRCm39) Y994C probably damaging Het
Trmt1 A G 8: 85,425,778 (GRCm39) N531D probably benign Het
Ttc17 A G 2: 94,196,916 (GRCm39) V477A probably benign Het
Ubxn10 T A 4: 138,448,187 (GRCm39) Q163L probably benign Het
Ulk4 A T 9: 120,985,950 (GRCm39) I908N possibly damaging Het
Zfp747l1 A G 7: 126,983,917 (GRCm39) L395P probably damaging Het
Zscan12 C T 13: 21,550,789 (GRCm39) S136L possibly damaging 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
R0365:Klhl26 UTSW 8 70,904,479 (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
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'- CATGGCACCTAAACCTTGGG -3'
(R):5'- TGCAGTGCTATGATCCAGC -3'

Sequencing Primer
(F):5'- GGGACCAGATCTCTCTCTCTG -3'
(R):5'- TGCTATGATCCAGCAGCCGAC -3'
Posted On 2015-07-21