Incidental Mutation 'R6465:Klhl18'
ID 517782
Institutional Source Beutler Lab
Gene Symbol Klhl18
Ensembl Gene ENSMUSG00000054792
Gene Name kelch-like 18
Synonyms
MMRRC Submission 044598-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6465 (G1)
Quality Score 203.009
Status Validated
Chromosome 9
Chromosomal Location 110254994-110305762 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110257988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 414 (M414T)
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: M479T

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000069674
Gene: ENSMUSG00000054792
AA Change: M479T

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: M484T

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143634
Gene: ENSMUSG00000054792
AA Change: M484T

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: M414T

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143384
Gene: ENSMUSG00000054792
AA Change: M414T

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
Meta Mutation Damage Score 0.5856 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 95% (40/42)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G A 6: 128,518,041 (GRCm39) T1415I probably damaging Het
Acvr2b T A 9: 119,262,369 (GRCm39) W461R probably damaging Het
Adam23 G T 1: 63,605,827 (GRCm39) C637F probably damaging Het
Apol8 T G 15: 77,634,148 (GRCm39) T143P probably benign Het
Bfsp1 A C 2: 143,699,975 (GRCm39) probably null Het
Cytl1 T C 5: 37,895,014 (GRCm39) V99A probably benign Het
Dock2 A T 11: 34,453,413 (GRCm39) V793E probably damaging Het
Fxyd5 G T 7: 30,737,305 (GRCm39) T81K probably damaging Het
Gcm1 A G 9: 77,972,151 (GRCm39) Y364C probably damaging Het
Get3 A T 8: 85,745,194 (GRCm39) M291K probably benign Het
Haghl T C 17: 26,002,793 (GRCm39) N190S possibly damaging Het
Inpp5j C A 11: 3,452,293 (GRCm39) R319L possibly damaging Het
Ints10 A G 8: 69,260,188 (GRCm39) N304S probably benign Het
Isoc1 T A 18: 58,804,328 (GRCm39) C119S probably damaging Het
Krtap2-4 A G 11: 99,505,585 (GRCm39) probably benign Het
Krtap3-1 G A 11: 99,457,277 (GRCm39) P45S possibly damaging Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Myo7a A G 7: 97,711,887 (GRCm39) V1754A possibly damaging Het
Nedd4l T A 18: 65,288,335 (GRCm39) D119E probably benign Het
Nsun7 T C 5: 66,452,929 (GRCm39) V548A probably benign Het
Or5m12 A T 2: 85,734,883 (GRCm39) S172T probably benign Het
Or6b6 A T 7: 106,571,419 (GRCm39) V44E possibly damaging Het
Parvg A G 15: 84,213,141 (GRCm39) D127G probably damaging Het
Pate13 A T 9: 35,819,921 (GRCm39) N25Y possibly damaging Het
Piezo2 T A 18: 63,174,734 (GRCm39) M2007L possibly damaging Het
Pou2f3 A C 9: 43,051,162 (GRCm39) F175V probably damaging Het
Ptprn2 T C 12: 117,233,209 (GRCm39) I958T probably damaging Het
Pwwp2b T C 7: 138,835,951 (GRCm39) V464A probably benign Het
Pzp A G 6: 128,468,582 (GRCm39) Y982H probably damaging Het
Rad17 T A 13: 100,773,588 (GRCm39) N202I probably benign Het
Rtel1 T A 2: 180,977,733 (GRCm39) D271E possibly damaging Het
Sos2 T C 12: 69,643,549 (GRCm39) S943G probably benign Het
Tdpoz6 A G 3: 93,600,303 (GRCm39) I22T probably damaging Het
Tm9sf2 A G 14: 122,378,619 (GRCm39) H241R probably benign Het
Ttc8 A G 12: 98,930,829 (GRCm39) E291G probably damaging Het
Unc93a2 G T 17: 7,641,842 (GRCm39) T202K probably damaging Het
Wfikkn1 A G 17: 26,097,692 (GRCm39) C211R probably damaging Het
Ylpm1 T A 12: 85,096,576 (GRCm39) D1219E probably damaging Het
Zc3hav1 T C 6: 38,308,784 (GRCm39) Y586C possibly damaging Het
Zcchc4 T A 5: 52,976,618 (GRCm39) F471I probably benign Het
Zfp719 C A 7: 43,240,108 (GRCm39) Y565* probably null 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
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'- AGGTTTGACTGTCCATCGTAACC -3'
(R):5'- GCATCAGAGCAAGGGTACAC -3'

Sequencing Primer
(F):5'- GTAACCTCCCACTGCATAGAGG -3'
(R):5'- CACCGTGTAGGCTTCTGTGC -3'
Posted On 2018-05-21