Incidental Mutation 'R3699:Klhl18'
ID 269922
Institutional Source Beutler Lab
Gene Symbol Klhl18
Ensembl Gene ENSMUSG00000054792
Gene Name kelch-like 18
Synonyms
MMRRC Submission 040692-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3699 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 110254994-110305762 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110265134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 291 (Y291H)
Ref Sequence ENSEMBL: ENSMUSP00000143384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068025] [ENSMUST00000198164] [ENSMUST00000198400]
AlphaFold E9Q4F2
Predicted Effect probably benign
Transcript: ENSMUST00000068025
AA Change: Y356H

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000069674
Gene: ENSMUSG00000054792
AA Change: Y356H

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: ENSMUST00000111934
AA Change: Y361H

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000107565
Gene: ENSMUSG00000054792
AA Change: Y361H

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: ENSMUST00000197336
Predicted Effect probably benign
Transcript: ENSMUST00000198164
AA Change: Y361H

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000143634
Gene: ENSMUSG00000054792
AA Change: Y361H

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 noncoding transcript
Transcript: ENSMUST00000198327
Predicted Effect probably benign
Transcript: ENSMUST00000198400
AA Change: Y291H

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143384
Gene: ENSMUSG00000054792
AA Change: Y291H

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 noncoding transcript
Transcript: ENSMUST00000199700
Predicted Effect probably benign
Transcript: ENSMUST00000200256
Meta Mutation Damage Score 0.8351 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Atp1b2 G A 11: 69,496,095 (GRCm39) T35I probably benign Het
Baz1a A G 12: 54,963,831 (GRCm39) V751A probably benign Het
Cdh23 C A 10: 60,163,149 (GRCm39) probably null Het
Chd2 G T 7: 73,118,238 (GRCm39) L1127I probably benign Het
D7Ertd443e A G 7: 133,950,797 (GRCm39) L292P probably damaging Het
Dst T C 1: 34,252,155 (GRCm39) probably benign Het
Dync2i1 C T 12: 116,175,462 (GRCm39) W905* probably null Het
Gm8229 T A 14: 44,603,984 (GRCm39) S58T unknown Het
Gucy2c A T 6: 136,747,109 (GRCm39) C117S probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lamc1 G T 1: 153,130,951 (GRCm39) S333R possibly damaging Het
Lbr T C 1: 181,646,485 (GRCm39) Y479C probably damaging Het
Nampt T C 12: 32,898,758 (GRCm39) probably benign Het
Or10am5 A G 7: 6,517,993 (GRCm39) M145T probably damaging Het
Pcnx3 G T 19: 5,722,493 (GRCm39) R1400S probably damaging Het
Pde4b C T 4: 102,458,742 (GRCm39) A466V probably damaging Het
Piezo1 C T 8: 123,221,642 (GRCm39) R584H probably damaging Het
Polq C A 16: 36,862,518 (GRCm39) S338Y probably damaging Het
Pramel26 A G 4: 143,536,922 (GRCm39) S470P probably benign Het
Rassf8 T C 6: 145,765,802 (GRCm39) probably benign Het
Rere A T 4: 150,561,819 (GRCm39) probably null Het
Rps6kb1 A G 11: 86,423,620 (GRCm39) F120S probably damaging Het
Scarf1 G T 11: 75,405,195 (GRCm39) C78F probably damaging Het
Tepsin C T 11: 119,982,579 (GRCm39) C491Y possibly damaging Het
Trpv4 A G 5: 114,772,861 (GRCm39) S243P probably damaging Het
Whrn A T 4: 63,379,649 (GRCm39) probably benign Het
Zfp521 G T 18: 13,979,330 (GRCm39) S361* probably null Het
Zfyve19 A G 2: 119,041,720 (GRCm39) T96A probably benign 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
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
R7580:Klhl18 UTSW 9 110,265,118 (GRCm39) missense probably benign 0.00
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'- AAGGACAAGGCAGGTATTTTATGC -3'
(R):5'- GCAGGTGATTCCCTGAATGTGG -3'

Sequencing Primer
(F):5'- CAAGGCAGGTATTTTATGCTTAAGC -3'
(R):5'- GTGGAAGTGTTCGACCCTATC -3'
Posted On 2015-03-18