Incidental Mutation 'IGL01338:Klhl18'
ID74726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl18
Ensembl Gene ENSMUSG00000054792
Gene Namekelch-like 18
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01338
Quality Score
Status
Chromosome9
Chromosomal Location110425926-110476694 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 110455433 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 62 (Y62H)
Ref Sequence ENSEMBL: ENSMUSP00000143634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068025] [ENSMUST00000198164] [ENSMUST00000198400]
Predicted Effect probably damaging
Transcript: ENSMUST00000068025
AA Change: Y62H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069674
Gene: ENSMUSG00000054792
AA Change: Y62H

DomainStartEndE-ValueType
BTB 38 135 1.32e-29 SMART
BACK 140 242 1.67e-39 SMART
Kelch 289 336 1.78e-14 SMART
Kelch 337 383 2.64e-17 SMART
Kelch 384 430 2.18e-18 SMART
Kelch 431 477 9.27e-13 SMART
Kelch 478 524 3.34e-5 SMART
Kelch 525 571 1.22e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111934
AA Change: Y62H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107565
Gene: ENSMUSG00000054792
AA Change: Y62H

DomainStartEndE-ValueType
BTB 38 135 1.32e-29 SMART
BACK 140 242 1.67e-39 SMART
Kelch 289 341 8.52e-12 SMART
Kelch 342 388 2.64e-17 SMART
Kelch 389 435 2.18e-18 SMART
Kelch 436 482 9.27e-13 SMART
Kelch 483 529 3.34e-5 SMART
Kelch 530 576 1.22e-12 SMART
Predicted Effect unknown
Transcript: ENSMUST00000197336
AA Change: Y60H
Predicted Effect probably damaging
Transcript: ENSMUST00000198164
AA Change: Y62H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143634
Gene: ENSMUSG00000054792
AA Change: Y62H

DomainStartEndE-ValueType
BTB 38 135 1.32e-29 SMART
BACK 140 242 1.67e-39 SMART
Kelch 289 341 8.52e-12 SMART
Kelch 342 388 2.64e-17 SMART
Kelch 389 435 2.18e-18 SMART
Kelch 436 482 9.27e-13 SMART
Kelch 483 529 3.34e-5 SMART
Kelch 530 576 1.22e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198400
SMART Domains Protein: ENSMUSP00000143384
Gene: ENSMUSG00000054792

DomainStartEndE-ValueType
Pfam:BTB 1 70 2.1e-15 PFAM
BACK 75 177 1.67e-39 SMART
Kelch 224 271 1.78e-14 SMART
Kelch 272 318 2.64e-17 SMART
Kelch 319 365 2.18e-18 SMART
Kelch 366 412 9.27e-13 SMART
Kelch 413 459 3.34e-5 SMART
Kelch 460 506 1.22e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200256
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik T C 16: 90,926,048 N266S possibly damaging Het
Adam23 A G 1: 63,551,855 T494A possibly damaging Het
Adamts16 C T 13: 70,836,115 C143Y probably damaging Het
Cacna1i A G 15: 80,348,380 I195V probably damaging Het
Casp7 T C 19: 56,404,464 S17P probably benign Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cpvl T A 6: 53,974,655 S48C possibly damaging Het
Cyp2b19 G T 7: 26,759,417 M138I probably benign Het
Dennd5a T C 7: 109,919,404 Y510C possibly damaging Het
Derl2 A G 11: 71,010,355 F229S possibly damaging Het
Dlec1 A G 9: 119,120,911 E452G probably damaging Het
Dsc2 T C 18: 20,047,157 K180E probably benign Het
Dus1l G A 11: 120,793,092 R177C possibly damaging Het
Egfr A G 11: 16,863,020 I167V probably damaging Het
Fam219b A T 9: 57,538,022 probably null Het
Fn1 T C 1: 71,626,210 E916G probably damaging Het
Gm2058 C T 7: 39,589,156 noncoding transcript Het
Gpd1 T A 15: 99,718,175 V22E probably damaging Het
Hsf2 T C 10: 57,501,379 F124L probably damaging Het
I0C0044D17Rik A G 4: 98,820,099 probably benign Het
Igfbp3 A T 11: 7,208,478 F262I possibly damaging Het
Lama2 C T 10: 27,188,272 E1238K probably benign Het
Man1b1 A G 2: 25,338,227 K170E probably benign Het
Mcrs1 A T 15: 99,249,501 I39N probably damaging Het
Mug2 T C 6: 122,049,628 probably benign Het
Neu3 C A 7: 99,813,422 G365W probably damaging Het
Nipal3 A C 4: 135,471,883 probably null Het
Nrxn3 A G 12: 89,255,034 I528V possibly damaging Het
Olfr122 A T 17: 37,771,839 H71L possibly damaging Het
Osbpl8 A G 10: 111,267,747 K204R probably damaging Het
Pax8 A G 2: 24,435,919 S318P possibly damaging Het
Pcdh18 T A 3: 49,756,141 N242Y probably damaging Het
Pkd1l2 T A 8: 117,059,520 K649* probably null Het
Ppm1n A T 7: 19,279,254 D257E probably benign Het
Pxdn A G 12: 30,002,797 E811G probably damaging Het
Relb T C 7: 19,616,373 I218V probably benign Het
Rreb1 T C 13: 37,931,034 C790R probably damaging Het
Rtkn2 G T 10: 68,025,519 C258F possibly damaging Het
Scn11a G A 9: 119,784,161 probably benign Het
Snx8 G A 5: 140,358,096 R96C probably damaging Het
Syne2 A T 12: 76,060,226 T5649S possibly damaging Het
Tm2d3 T A 7: 65,695,222 C82* probably null Het
Tnpo2 T C 8: 85,040,526 L55P probably damaging Het
Tsc22d2 T C 3: 58,417,415 probably benign Het
Ttll3 T G 6: 113,394,729 V19G probably damaging Het
Ube2r2 A G 4: 41,174,119 I86V probably benign Het
Vps13d G A 4: 145,088,322 T3153I probably damaging Het
Wwp1 A G 4: 19,627,636 I753T probably damaging Het
Other mutations in Klhl18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Klhl18 APN 9 110428686 missense probably damaging 1.00
IGL01455:Klhl18 APN 9 110432443 missense probably damaging 1.00
IGL01954:Klhl18 APN 9 110428866 missense probably damaging 1.00
IGL01960:Klhl18 APN 9 110450746 missense probably benign 0.25
IGL02195:Klhl18 APN 9 110438902 missense possibly damaging 0.92
IGL02430:Klhl18 APN 9 110437401 missense probably benign 0.25
IGL02629:Klhl18 APN 9 110429938 splice site probably benign
Mixie UTSW 9 110436062 missense probably benign 0.00
R0389:Klhl18 UTSW 9 110428681 missense probably benign 0.00
R1538:Klhl18 UTSW 9 110446747 missense probably damaging 1.00
R1777:Klhl18 UTSW 9 110437401 missense probably benign 0.25
R1966:Klhl18 UTSW 9 110476590 missense probably benign 0.14
R2099:Klhl18 UTSW 9 110455418 missense probably damaging 1.00
R3699:Klhl18 UTSW 9 110436066 missense probably benign 0.06
R3911:Klhl18 UTSW 9 110436083 missense probably damaging 1.00
R3950:Klhl18 UTSW 9 110428902 missense probably damaging 1.00
R4197:Klhl18 UTSW 9 110429944 critical splice donor site probably null
R4500:Klhl18 UTSW 9 110429966 missense probably damaging 1.00
R4936:Klhl18 UTSW 9 110428961 missense possibly damaging 0.88
R5296:Klhl18 UTSW 9 110436127 missense possibly damaging 0.64
R5298:Klhl18 UTSW 9 110436127 missense possibly damaging 0.64
R5301:Klhl18 UTSW 9 110436127 missense possibly damaging 0.64
R5407:Klhl18 UTSW 9 110436127 missense possibly damaging 0.64
R5433:Klhl18 UTSW 9 110436127 missense possibly damaging 0.64
R5641:Klhl18 UTSW 9 110446828 missense probably damaging 1.00
R6084:Klhl18 UTSW 9 110428727 missense possibly damaging 0.52
R6279:Klhl18 UTSW 9 110436062 missense probably benign 0.00
R6300:Klhl18 UTSW 9 110436062 missense probably benign 0.00
R6425:Klhl18 UTSW 9 110446681 missense possibly damaging 0.85
R6465:Klhl18 UTSW 9 110428920 missense probably benign 0.21
R6521:Klhl18 UTSW 9 110428635 missense possibly damaging 0.92
R6587:Klhl18 UTSW 9 110455426 missense probably damaging 1.00
R6730:Klhl18 UTSW 9 110428911 missense probably damaging 0.98
R7110:Klhl18 UTSW 9 110450765 missense probably damaging 0.99
R7492:Klhl18 UTSW 9 110428775 nonsense probably null
R7580:Klhl18 UTSW 9 110436050 missense probably benign 0.00
R7598:Klhl18 UTSW 9 110446810 nonsense probably null
Posted On2013-10-07