Incidental Mutation 'IGL03089:Klhl26'
ID418306
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl26
Ensembl Gene ENSMUSG00000055707
Gene Namekelch-like 26
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03089
Quality Score
Status
Chromosome8
Chromosomal Location70450219-70476968 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 70455633 bp
ZygosityHeterozygous
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]
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: 95,677,246 S947P probably damaging Het
Agl T A 3: 116,781,023 H709L probably damaging Het
Alpi T A 1: 87,100,108 D250V probably benign Het
Anapc4 A G 5: 52,866,398 S735G probably benign Het
Ank1 A T 8: 23,104,832 I611L probably benign Het
Canx A G 11: 50,304,482 V253A possibly damaging Het
Cbfa2t3 A T 8: 122,635,134 I383N probably damaging Het
Cdc23 T C 18: 34,634,460 Y519C probably damaging Het
Celsr3 T A 9: 108,826,607 N96K probably benign Het
Clptm1 A G 7: 19,637,147 Y355H probably damaging Het
Col6a5 C T 9: 105,933,839 S827N unknown Het
Cyp21a1 G T 17: 34,803,446 probably null Het
Cyp24a1 T G 2: 170,485,966 H452P probably damaging Het
Cyp2c39 T A 19: 39,563,851 H329Q probably benign Het
D630003M21Rik C T 2: 158,216,744 R412Q probably benign Het
Dennd1b G A 1: 139,102,029 R308Q possibly damaging Het
Deup1 T C 9: 15,607,800 S137G possibly damaging Het
Dmbt1 T A 7: 131,111,049 I1583N probably damaging Het
Dvl1 G A 4: 155,855,152 V320M probably damaging Het
Elmod3 A G 6: 72,569,316 S254P probably damaging Het
Emsy G A 7: 98,637,266 Q226* probably null Het
Ephb6 C A 6: 41,614,174 D88E probably damaging Het
Exoc1 A G 5: 76,542,158 M182V possibly damaging Het
Fbxw4 T G 19: 45,591,721 probably benign Het
Fgr A G 4: 132,986,266 D35G probably damaging Het
Gm13078 A G 4: 143,726,133 T45A probably benign Het
Gm20547 A T 17: 34,861,032 D366E probably damaging Het
Gucy1a1 T C 3: 82,097,681 N599S probably damaging Het
Ighg2b G A 12: 113,306,678 P240L probably damaging Het
Jak3 A G 8: 71,686,083 D975G probably benign Het
Letm1 T A 5: 33,760,858 E314D probably damaging Het
Lin54 A T 5: 100,450,993 F319L probably damaging Het
Lrp5 A T 19: 3,620,314 probably null Het
Lvrn T C 18: 46,880,709 F486S probably damaging Het
Nov C T 15: 54,749,284 R230C possibly damaging Het
Olfr1218 T C 2: 89,055,013 R138G probably benign Het
Olfr378 T C 11: 73,425,183 T267A probably benign Het
Olfr631 A C 7: 103,929,122 I100L probably benign Het
Olfr93 A G 17: 37,151,643 C110R probably damaging Het
Olfr969 A T 9: 39,795,681 Y102F probably benign Het
Sap30bp T A 11: 115,957,388 M112K possibly damaging Het
Sbno1 A G 5: 124,387,311 probably benign Het
Slc30a5 T C 13: 100,813,830 I307V probably benign Het
Trim37 T A 11: 87,190,137 D21E probably damaging Het
Usp34 T C 11: 23,446,958 F614S possibly damaging Het
Usp39 A C 6: 72,328,639 F387C probably damaging Het
Vipas39 C T 12: 87,253,254 C149Y probably damaging Het
Vmn2r107 C A 17: 20,375,712 H842Q probably benign Het
Vps18 T A 2: 119,293,177 V195E probably benign Het
Vsx1 A G 2: 150,685,590 probably benign Het
Other mutations in Klhl26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01655:Klhl26 APN 8 70451883 missense probably damaging 1.00
IGL02508:Klhl26 APN 8 70452731 missense probably damaging 1.00
IGL03144:Klhl26 APN 8 70452564 missense probably damaging 1.00
R0365:Klhl26 UTSW 8 70451829 missense probably damaging 1.00
R0408:Klhl26 UTSW 8 70452480 missense probably damaging 1.00
R0494:Klhl26 UTSW 8 70451601 missense probably damaging 1.00
R1889:Klhl26 UTSW 8 70451733 missense probably damaging 0.99
R1940:Klhl26 UTSW 8 70452261 missense probably damaging 1.00
R3902:Klhl26 UTSW 8 70452366 missense probably damaging 0.98
R4458:Klhl26 UTSW 8 70452692 missense possibly damaging 0.89
R4459:Klhl26 UTSW 8 70451544 missense probably damaging 1.00
R4460:Klhl26 UTSW 8 70451544 missense probably damaging 1.00
R4461:Klhl26 UTSW 8 70451544 missense probably damaging 1.00
R5135:Klhl26 UTSW 8 70452718 missense probably benign 0.19
R5334:Klhl26 UTSW 8 70452318 missense probably damaging 1.00
R5342:Klhl26 UTSW 8 70455565 missense probably damaging 1.00
R5711:Klhl26 UTSW 8 70452324 missense probably damaging 0.98
R5724:Klhl26 UTSW 8 70451754 missense probably damaging 1.00
R5965:Klhl26 UTSW 8 70452731 missense probably damaging 1.00
R7319:Klhl26 UTSW 8 70452942 missense probably damaging 0.99
R7390:Klhl26 UTSW 8 70452849 missense probably damaging 0.98
R8917:Klhl26 UTSW 8 70452805 missense possibly damaging 0.90
Z1088:Klhl26 UTSW 8 70451799 missense probably damaging 0.99
Posted On2016-08-02