Incidental Mutation 'IGL02508:Klhl26'
ID296469
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 #IGL02508
Quality Score
Status
Chromosome8
Chromosomal Location70450219-70476968 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 70452731 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 95 (D95E)
Ref Sequence ENSEMBL: ENSMUSP00000147349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066597] [ENSMUST00000166976] [ENSMUST00000209415] [ENSMUST00000209567] [ENSMUST00000210250]
Predicted Effect probably damaging
Transcript: ENSMUST00000066597
AA Change: D176E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069077
Gene: ENSMUSG00000055707
AA Change: D176E

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: D115E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129607
Gene: ENSMUSG00000055707
AA Change: D115E

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: D95E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000210250
AA Change: D142E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Meta Mutation Damage Score 0.3339 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik T A 3: 117,077,115 noncoding transcript Het
5430419D17Rik A G 7: 131,222,830 E91G probably damaging Het
Adgrv1 A T 13: 81,435,556 probably benign Het
AI429214 T G 8: 36,994,086 D129E probably benign Het
Alx1 G A 10: 103,022,193 T215M probably damaging Het
Arhgap39 A G 15: 76,724,984 *1079Q probably null Het
Brca2 T C 5: 150,543,308 V2179A possibly damaging Het
Celsr1 G A 15: 86,030,617 Q1052* probably null Het
Chd5 A G 4: 152,363,024 E510G probably damaging Het
Cntnap2 A G 6: 46,234,320 D556G probably damaging Het
Cux2 G A 5: 121,860,822 P1352S possibly damaging Het
Cyp4a31 A T 4: 115,571,064 Y319F probably damaging Het
Dcaf12 C T 4: 41,296,310 probably null Het
Dcc C A 18: 71,370,702 A942S probably benign Het
Dyrk1a A T 16: 94,685,183 D463V probably damaging Het
Eln T A 5: 134,704,568 probably benign Het
Fbxl13 A G 5: 21,556,805 probably null Het
Fndc3b T C 3: 27,458,751 Y742C probably damaging Het
Furin G A 7: 80,392,521 T442I probably benign Het
Gli1 T C 10: 127,337,092 Q155R probably benign Het
Glra3 A G 8: 56,085,144 E218G probably benign Het
Gm13101 T C 4: 143,965,020 N378D probably benign Het
Grb10 C T 11: 11,946,767 V236M probably damaging Het
Grhl2 T C 15: 37,309,765 probably benign Het
Hgfac A T 5: 35,047,220 M579L probably damaging Het
Ifi202b A T 1: 173,974,772 D165E probably benign Het
Klk12 T C 7: 43,769,689 V26A probably benign Het
Lrp2 C T 2: 69,503,430 G1489D probably benign Het
Lrrtm1 A T 6: 77,244,591 S344C probably damaging Het
Lzts1 G A 8: 69,140,848 R36* probably null Het
Mapkap1 T C 2: 34,518,669 probably benign Het
Meis3 T A 7: 16,178,797 probably null Het
Mtmr14 T A 6: 113,240,306 C60S probably damaging Het
Nfkb1 T A 3: 135,590,818 Y789F probably damaging Het
Nup54 G A 5: 92,417,539 Q440* probably null Het
Ogdhl T G 14: 32,345,174 M861R probably damaging Het
Olfr1290 C T 2: 111,489,835 A108T probably damaging Het
Olfr1425 G T 19: 12,073,887 H248Q possibly damaging Het
Olfr156 T C 4: 43,821,289 E24G possibly damaging Het
Olfr692 A T 7: 105,368,536 H61L possibly damaging Het
Olfr810 A G 10: 129,790,791 V266A probably benign Het
Pde6c A G 19: 38,157,500 K412R probably benign Het
Pex5l T C 3: 32,992,902 probably benign Het
Pigr A T 1: 130,850,858 I760L probably benign Het
Prr14l G A 5: 32,830,942 A403V probably benign Het
Prrt3 T C 6: 113,494,307 D968G probably damaging Het
Psmc5 T C 11: 106,263,043 I401T possibly damaging Het
Ralyl T A 3: 14,107,272 probably benign Het
Samd9l T C 6: 3,374,798 E821G probably damaging Het
Serpinb3a T A 1: 107,046,072 I370F probably damaging Het
Setd1a A G 7: 127,797,698 probably benign Het
Slco2a1 T A 9: 103,074,416 F381L probably benign Het
Strada A G 11: 106,168,356 Y199H probably benign Het
Stxbp2 T C 8: 3,632,531 I40T probably damaging Het
Tbx3 T C 5: 119,678,812 V358A possibly damaging Het
Tenm3 A G 8: 48,299,639 L896S probably benign Het
Tmem132a A G 19: 10,858,518 S883P probably damaging Het
Trio A G 15: 27,818,104 I496T possibly damaging Het
Unc79 C T 12: 103,112,276 R1548W probably damaging Het
Unc79 T C 12: 103,112,018 probably benign Het
Vmn2r9 T C 5: 108,848,201 M194V possibly damaging Het
Other mutations in Klhl26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01655:Klhl26 APN 8 70451883 missense probably damaging 1.00
IGL03089:Klhl26 APN 8 70455633 missense probably benign 0.05
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
Z1088:Klhl26 UTSW 8 70451799 missense probably damaging 0.99
Posted On2015-04-16