Incidental Mutation 'R7580:Klhl18'
ID 586697
Institutional Source Beutler Lab
Gene Symbol Klhl18
Ensembl Gene ENSMUSG00000054792
Gene Name kelch-like 18
Synonyms
MMRRC Submission 045664-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7580 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 110254994-110305762 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110265118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 366 (D366G)
Ref Sequence ENSEMBL: ENSMUSP00000143634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068025] [ENSMUST00000198164] [ENSMUST00000198400]
AlphaFold E9Q4F2
Predicted Effect probably benign
Transcript: ENSMUST00000068025
AA Change: D361G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000069674
Gene: ENSMUSG00000054792
AA Change: D361G

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 benign
Transcript: ENSMUST00000197336
Predicted Effect probably benign
Transcript: ENSMUST00000198164
AA Change: D366G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143634
Gene: ENSMUSG00000054792
AA Change: D366G

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
AA Change: D296G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143384
Gene: ENSMUSG00000054792
AA Change: D296G

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
Meta Mutation Damage Score 0.0762 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T A 13: 60,993,040 (GRCm39) Y213F probably damaging Het
Adamdec1 A G 14: 68,802,980 (GRCm39) S462P probably benign Het
Adamtsl1 T A 4: 85,972,301 (GRCm39) C3S possibly damaging Het
Bag1 C T 4: 40,947,836 (GRCm39) E123K probably benign Het
Brip1 A G 11: 86,048,427 (GRCm39) L305P probably damaging Het
Cage1 T A 13: 38,206,700 (GRCm39) I382F possibly damaging Het
Cfap52 T A 11: 67,837,146 (GRCm39) K205I probably damaging Het
Cmtr2 T A 8: 110,948,309 (GRCm39) N206K probably damaging Het
Defb34 G A 8: 19,176,426 (GRCm39) C39Y possibly damaging Het
Dennd3 T C 15: 73,428,296 (GRCm39) S881P possibly damaging Het
Dglucy C T 12: 100,816,423 (GRCm39) A325V probably benign Het
Dnah8 A G 17: 30,994,077 (GRCm39) E3398G probably damaging Het
Dsc2 A T 18: 20,183,130 (GRCm39) I96K probably damaging Het
Endov C T 11: 119,390,692 (GRCm39) probably benign Het
Fer1l6 A T 15: 58,430,245 (GRCm39) Q224L probably benign Het
Fmo2 T C 1: 162,704,613 (GRCm39) N431S possibly damaging Het
Gata3 A C 2: 9,867,943 (GRCm39) V337G probably damaging Het
Gtse1 G A 15: 85,746,432 (GRCm39) V83M probably damaging Het
Hgd C A 16: 37,439,241 (GRCm39) P224H possibly damaging Het
Kcnh6 T C 11: 105,908,374 (GRCm39) V330A probably damaging Het
Kiz C G 2: 146,798,169 (GRCm39) I631M probably damaging Het
Lrmda C T 14: 22,069,925 (GRCm39) probably benign Het
Mc1r G T 8: 124,134,906 (GRCm39) A220S probably damaging Het
Megf6 T A 4: 154,355,201 (GRCm39) C1505* probably null Het
Mmp20 C T 9: 7,654,144 (GRCm39) R355* probably null Het
Mmp28 T A 11: 83,335,658 (GRCm39) Q280L probably damaging Het
Mppe1 C T 18: 67,370,488 (GRCm39) A70T probably damaging Het
Mtif3 T G 5: 146,895,757 (GRCm39) D110A possibly damaging Het
Mtss2 G A 8: 111,464,268 (GRCm39) R361H possibly damaging Het
Mvp T C 7: 126,591,483 (GRCm39) D542G probably damaging Het
Nlrp5 T C 7: 23,133,174 (GRCm39) C940R probably damaging Het
Nmur2 C T 11: 55,917,808 (GRCm39) V394I probably benign Het
Nwd2 A G 5: 63,965,624 (GRCm39) H1736R probably benign Het
Or2n1c T C 17: 38,519,934 (GRCm39) I266T probably benign Het
Pira13 A T 7: 3,827,611 (GRCm39) F182Y unknown Het
Purg A G 8: 33,906,661 (GRCm39) Y317C possibly damaging Het
Ralgapa1 T A 12: 55,765,013 (GRCm39) M880L probably benign Het
Rap1gap T C 4: 137,447,293 (GRCm39) F413L possibly damaging Het
Sart3 A T 5: 113,892,440 (GRCm39) probably null Het
Scaf4 G A 16: 90,026,740 (GRCm39) Q1026* probably null Het
Slc26a1 A G 5: 108,819,735 (GRCm39) L504P probably damaging Het
Slc35d1 C A 4: 103,065,330 (GRCm39) V184L Het
Slc5a11 C T 7: 122,864,421 (GRCm39) A339V probably damaging Het
Stab2 A T 10: 86,705,028 (GRCm39) M1780K probably benign Het
Tas1r2 G A 4: 139,387,056 (GRCm39) D172N probably benign Het
Tasor A G 14: 27,188,243 (GRCm39) I896M probably benign Het
Tasor2 G A 13: 3,624,752 (GRCm39) P1733S probably damaging Het
Thoc1 A T 18: 9,986,343 (GRCm39) K358N probably damaging Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,465,042 (GRCm39) probably benign Het
Ttll8 A C 15: 88,818,132 (GRCm39) L181R probably damaging Het
Ubl4b G A 3: 107,461,784 (GRCm39) Q159* probably null Het
Xrn1 A G 9: 95,893,732 (GRCm39) H967R not run Het
Zeb2 T C 2: 44,884,544 (GRCm39) D1049G probably damaging Het
Other mutations in Klhl18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Klhl18 APN 9 110,257,754 (GRCm39) missense probably damaging 1.00
IGL01338:Klhl18 APN 9 110,284,501 (GRCm39) missense probably damaging 1.00
IGL01455:Klhl18 APN 9 110,261,511 (GRCm39) missense probably damaging 1.00
IGL01954:Klhl18 APN 9 110,257,934 (GRCm39) missense probably damaging 1.00
IGL01960:Klhl18 APN 9 110,279,814 (GRCm39) missense probably benign 0.25
IGL02195:Klhl18 APN 9 110,267,970 (GRCm39) missense possibly damaging 0.92
IGL02430:Klhl18 APN 9 110,266,469 (GRCm39) missense probably benign 0.25
IGL02629:Klhl18 APN 9 110,259,006 (GRCm39) splice site probably benign
Mixie UTSW 9 110,265,130 (GRCm39) missense probably benign 0.00
R0389:Klhl18 UTSW 9 110,257,749 (GRCm39) missense probably benign 0.00
R1538:Klhl18 UTSW 9 110,275,815 (GRCm39) missense probably damaging 1.00
R1777:Klhl18 UTSW 9 110,266,469 (GRCm39) missense probably benign 0.25
R1966:Klhl18 UTSW 9 110,305,658 (GRCm39) missense probably benign 0.14
R2099:Klhl18 UTSW 9 110,284,486 (GRCm39) missense probably damaging 1.00
R3699:Klhl18 UTSW 9 110,265,134 (GRCm39) missense probably benign 0.06
R3911:Klhl18 UTSW 9 110,265,151 (GRCm39) missense probably damaging 1.00
R3950:Klhl18 UTSW 9 110,257,970 (GRCm39) missense probably damaging 1.00
R4197:Klhl18 UTSW 9 110,259,012 (GRCm39) critical splice donor site probably null
R4500:Klhl18 UTSW 9 110,259,034 (GRCm39) missense probably damaging 1.00
R4936:Klhl18 UTSW 9 110,258,029 (GRCm39) missense possibly damaging 0.88
R5296:Klhl18 UTSW 9 110,265,195 (GRCm39) missense possibly damaging 0.64
R5298:Klhl18 UTSW 9 110,265,195 (GRCm39) missense possibly damaging 0.64
R5301:Klhl18 UTSW 9 110,265,195 (GRCm39) missense possibly damaging 0.64
R5407:Klhl18 UTSW 9 110,265,195 (GRCm39) missense possibly damaging 0.64
R5433:Klhl18 UTSW 9 110,265,195 (GRCm39) missense possibly damaging 0.64
R5641:Klhl18 UTSW 9 110,275,896 (GRCm39) missense probably damaging 1.00
R6084:Klhl18 UTSW 9 110,257,795 (GRCm39) missense possibly damaging 0.52
R6279:Klhl18 UTSW 9 110,265,130 (GRCm39) missense probably benign 0.00
R6300:Klhl18 UTSW 9 110,265,130 (GRCm39) missense probably benign 0.00
R6425:Klhl18 UTSW 9 110,275,749 (GRCm39) missense possibly damaging 0.85
R6465:Klhl18 UTSW 9 110,257,988 (GRCm39) missense probably benign 0.21
R6521:Klhl18 UTSW 9 110,257,703 (GRCm39) missense possibly damaging 0.92
R6587:Klhl18 UTSW 9 110,284,494 (GRCm39) missense probably damaging 1.00
R6730:Klhl18 UTSW 9 110,257,979 (GRCm39) missense probably damaging 0.98
R7110:Klhl18 UTSW 9 110,279,833 (GRCm39) missense probably damaging 0.99
R7492:Klhl18 UTSW 9 110,257,843 (GRCm39) nonsense probably null
R7598:Klhl18 UTSW 9 110,275,878 (GRCm39) nonsense probably null
R7789:Klhl18 UTSW 9 110,268,076 (GRCm39) missense unknown
R7988:Klhl18 UTSW 9 110,305,577 (GRCm39) missense possibly damaging 0.87
R8050:Klhl18 UTSW 9 110,257,829 (GRCm39) missense probably damaging 1.00
Z1176:Klhl18 UTSW 9 110,266,415 (GRCm39) missense probably null 0.99
Predicted Primers PCR Primer
(F):5'- AAAGGACAAGGCAGGTATTTTATGC -3'
(R):5'- TGCAGGTGATTCCCTGAATG -3'

Sequencing Primer
(F):5'- CAAGGCAGGTATTTTATGCTTAAGC -3'
(R):5'- ATTCCCTGAATGTGGTGGAAG -3'
Posted On 2019-10-24