Incidental Mutation 'IGL03089:Klhl26'
ID 418306
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl26
Ensembl Gene ENSMUSG00000055707
Gene Name kelch-like 26
Synonyms C630013N10Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03089
Quality Score
Status
Chromosome 8
Chromosomal Location 70902869-70929618 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70908283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 24 (N24K)
Ref Sequence ENSEMBL: ENSMUSP00000147432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066597] [ENSMUST00000166976] [ENSMUST00000209415] [ENSMUST00000209567] [ENSMUST00000210250]
AlphaFold Q8BGY4
Predicted Effect probably benign
Transcript: ENSMUST00000066597
AA Change: N24K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000069077
Gene: ENSMUSG00000055707
AA Change: N24K

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 benign
Transcript: ENSMUST00000166976
SMART Domains Protein: ENSMUSP00000129607
Gene: ENSMUSG00000055707

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
AA Change: N24K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000209567
Predicted Effect probably benign
Transcript: ENSMUST00000210250
AA Change: N24K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 A G 3: 95,584,556 (GRCm39) S947P probably damaging Het
Agl T A 3: 116,574,672 (GRCm39) H709L probably damaging Het
Alpi T A 1: 87,027,830 (GRCm39) D250V probably benign Het
Anapc4 A G 5: 53,023,740 (GRCm39) S735G probably benign Het
Ank1 A T 8: 23,594,848 (GRCm39) I611L probably benign Het
Canx A G 11: 50,195,309 (GRCm39) V253A possibly damaging Het
Cbfa2t3 A T 8: 123,361,873 (GRCm39) I383N probably damaging Het
Ccn3 C T 15: 54,612,680 (GRCm39) R230C possibly damaging Het
Cdc23 T C 18: 34,767,513 (GRCm39) Y519C probably damaging Het
Celsr3 T A 9: 108,703,806 (GRCm39) N96K probably benign Het
Clptm1 A G 7: 19,371,072 (GRCm39) Y355H probably damaging Het
Col6a5 C T 9: 105,811,038 (GRCm39) S827N unknown Het
Cyp21a1 G T 17: 35,022,420 (GRCm39) probably null Het
Cyp24a1 T G 2: 170,327,886 (GRCm39) H452P probably damaging Het
Cyp2c39 T A 19: 39,552,295 (GRCm39) H329Q probably benign Het
D630003M21Rik C T 2: 158,058,664 (GRCm39) R412Q probably benign Het
Dennd1b G A 1: 139,029,767 (GRCm39) R308Q possibly damaging Het
Deup1 T C 9: 15,519,096 (GRCm39) S137G possibly damaging Het
Dmbt1 T A 7: 130,712,778 (GRCm39) I1583N probably damaging Het
Dvl1 G A 4: 155,939,609 (GRCm39) V320M probably damaging Het
Elmod3 A G 6: 72,546,299 (GRCm39) S254P probably damaging Het
Emsy G A 7: 98,286,473 (GRCm39) Q226* probably null Het
Ephb6 C A 6: 41,591,108 (GRCm39) D88E probably damaging Het
Exoc1 A G 5: 76,690,005 (GRCm39) M182V possibly damaging Het
Fbxw4 T G 19: 45,580,160 (GRCm39) probably benign Het
Fgr A G 4: 132,713,577 (GRCm39) D35G probably damaging Het
Gm20547 A T 17: 35,080,008 (GRCm39) D366E probably damaging Het
Gucy1a1 T C 3: 82,004,988 (GRCm39) N599S probably damaging Het
Ighg2b G A 12: 113,270,298 (GRCm39) P240L probably damaging Het
Jak3 A G 8: 72,138,727 (GRCm39) D975G probably benign Het
Letm1 T A 5: 33,918,202 (GRCm39) E314D probably damaging Het
Lin54 A T 5: 100,598,852 (GRCm39) F319L probably damaging Het
Lrp5 A T 19: 3,670,314 (GRCm39) probably null Het
Lvrn T C 18: 47,013,776 (GRCm39) F486S probably damaging Het
Or1e19 T C 11: 73,316,009 (GRCm39) T267A probably benign Het
Or2h1b A G 17: 37,462,534 (GRCm39) C110R probably damaging Het
Or4c113 T C 2: 88,885,357 (GRCm39) R138G probably benign Het
Or51m1 A C 7: 103,578,329 (GRCm39) I100L probably benign Het
Or8g54 A T 9: 39,706,977 (GRCm39) Y102F probably benign Het
Pramel24 A G 4: 143,452,703 (GRCm39) T45A probably benign Het
Sap30bp T A 11: 115,848,214 (GRCm39) M112K possibly damaging Het
Sbno1 A G 5: 124,525,374 (GRCm39) probably benign Het
Slc30a5 T C 13: 100,950,338 (GRCm39) I307V probably benign Het
Trim37 T A 11: 87,080,963 (GRCm39) D21E probably damaging Het
Usp34 T C 11: 23,396,958 (GRCm39) F614S possibly damaging Het
Usp39 A C 6: 72,305,622 (GRCm39) F387C probably damaging Het
Vipas39 C T 12: 87,300,028 (GRCm39) C149Y probably damaging Het
Vmn2r107 C A 17: 20,595,974 (GRCm39) H842Q probably benign Het
Vps18 T A 2: 119,123,658 (GRCm39) V195E probably benign Het
Vsx1 A G 2: 150,527,510 (GRCm39) probably benign 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
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
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
Posted On 2016-08-02