Incidental Mutation 'R7492:Klhl18'
ID 580850
Institutional Source Beutler Lab
Gene Symbol Klhl18
Ensembl Gene ENSMUSG00000054792
Gene Name kelch-like 18
Synonyms
MMRRC Submission 045566-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7492 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 110254994-110305762 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to C at 110257843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 532 (Y532*)
Ref Sequence ENSEMBL: ENSMUSP00000143634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068025] [ENSMUST00000198164] [ENSMUST00000198400]
AlphaFold E9Q4F2
Predicted Effect probably null
Transcript: ENSMUST00000068025
AA Change: Y527*
SMART Domains Protein: ENSMUSP00000069674
Gene: ENSMUSG00000054792
AA Change: Y527*

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 null
Transcript: ENSMUST00000198164
AA Change: Y532*
SMART Domains Protein: ENSMUSP00000143634
Gene: ENSMUSG00000054792
AA Change: Y532*

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 null
Transcript: ENSMUST00000198400
AA Change: Y462*
SMART Domains Protein: ENSMUSP00000143384
Gene: ENSMUSG00000054792
AA Change: Y462*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,948,560 (GRCm39) D819G possibly damaging Het
Abca13 A T 11: 9,243,167 (GRCm39) I1677L probably benign Het
Ablim2 A G 5: 35,998,673 (GRCm39) S367G probably benign Het
Afdn G C 17: 14,068,638 (GRCm39) probably null Het
Aldh6a1 A G 12: 84,483,640 (GRCm39) L302P probably damaging Het
Ank3 A G 10: 69,718,357 (GRCm39) D536G unknown Het
Ankrd17 A G 5: 90,381,807 (GRCm39) V2454A possibly damaging Het
Apol7e G A 15: 77,601,656 (GRCm39) E85K possibly damaging Het
Atmin A G 8: 117,683,657 (GRCm39) D439G probably damaging Het
AU040320 G T 4: 126,741,648 (GRCm39) C952F possibly damaging Het
Btbd8 G A 5: 107,658,373 (GRCm39) E1648K probably benign Het
C6 A G 15: 4,761,196 (GRCm39) S19G probably benign Het
Ccdc180 A T 4: 45,930,009 (GRCm39) probably null Het
Cntn1 A C 15: 92,212,423 (GRCm39) T862P probably benign Het
Col5a1 T C 2: 27,859,812 (GRCm39) probably null Het
D430041D05Rik T C 2: 104,031,650 (GRCm39) K964E probably damaging Het
Dnajc18 T C 18: 35,819,846 (GRCm39) Y145C probably damaging Het
Dsc1 C T 18: 20,240,737 (GRCm39) C196Y possibly damaging Het
Efcab11 A C 12: 99,844,660 (GRCm39) I58R possibly damaging Het
Fam81b T A 13: 76,419,398 (GRCm39) I51F probably benign Het
Fbln1 G A 15: 85,111,262 (GRCm39) V139M probably damaging Het
Fbxw25 A G 9: 109,493,598 (GRCm39) probably null Het
Fech C T 18: 64,600,842 (GRCm39) W220* probably null Het
Fgl1 C T 8: 41,644,624 (GRCm39) W293* probably null Het
Firrm A G 1: 163,786,897 (GRCm39) I724T probably benign Het
Foxi2 T C 7: 135,012,301 (GRCm39) L63P probably damaging Het
Frmpd1 A G 4: 45,285,237 (GRCm39) R1353G possibly damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Galnt5 T A 2: 57,916,048 (GRCm39) probably null Het
Glb1 A T 9: 114,303,017 (GRCm39) I618F probably damaging Het
Hs2st1 A T 3: 144,141,357 (GRCm39) M237K probably benign Het
Ighm T C 12: 113,386,293 (GRCm39) D19G Het
Il1f10 A G 2: 24,182,829 (GRCm39) D35G probably benign Het
Itpr2 G A 6: 146,292,436 (GRCm39) T419I probably damaging Het
Khdc1a A T 1: 21,420,542 (GRCm39) E54V possibly damaging Het
Kif19a A G 11: 114,681,065 (GRCm39) D991G probably benign Het
Lama1 T C 17: 68,124,646 (GRCm39) F2902S Het
Lrba T C 3: 86,571,835 (GRCm39) S2380P probably damaging Het
Lrp2 T A 2: 69,367,925 (GRCm39) I196F probably damaging Het
Macf1 T C 4: 123,369,524 (GRCm39) K1746E possibly damaging Het
Megf10 T C 18: 57,424,866 (GRCm39) Y1002H probably benign Het
Megf8 A G 7: 25,053,273 (GRCm39) T1815A probably benign Het
Mtg1 T C 7: 139,724,610 (GRCm39) L162P probably damaging Het
Myo6 T A 9: 80,195,328 (GRCm39) Y899* probably null Het
Nlrp9a A T 7: 26,257,081 (GRCm39) D233V probably damaging Het
Or10al6 A T 17: 38,082,571 (GRCm39) Q9L possibly damaging Het
Or2z2 T A 11: 58,346,715 (GRCm39) N20I probably benign Het
Or4k45 C A 2: 111,395,166 (GRCm39) V208L probably benign Het
Or6c201 T A 10: 128,969,509 (GRCm39) I43F probably damaging Het
Or8k36-ps1 T A 2: 86,437,063 (GRCm39) N284I unknown Het
Parvb A T 15: 84,174,651 (GRCm39) Q148L probably damaging Het
Pcdhb11 C T 18: 37,556,497 (GRCm39) T609M probably damaging Het
Pcdhga3 A T 18: 37,809,178 (GRCm39) T544S probably benign Het
Pkd1 C G 17: 24,788,715 (GRCm39) I824M probably benign Het
Pkd1l2 A T 8: 117,794,849 (GRCm39) L370Q probably damaging Het
Plcb1 G T 2: 135,093,684 (GRCm39) E166* probably null Het
Pnpt1 A G 11: 29,085,522 (GRCm39) I138V probably benign Het
Pou4f3 T C 18: 42,528,996 (GRCm39) L313P probably damaging Het
Pramel21 C A 4: 143,342,744 (GRCm39) Q284K not run Het
Prep A G 10: 44,996,910 (GRCm39) Y396C probably damaging Het
Prkd3 A T 17: 79,269,974 (GRCm39) C562* probably null Het
Prss12 T A 3: 123,276,425 (GRCm39) C351* probably null Het
Rnf41 C A 10: 128,274,283 (GRCm39) H312N probably damaging Het
Ror1 C T 4: 100,298,256 (GRCm39) T543I probably benign Het
Rreb1 G A 13: 38,115,724 (GRCm39) V1028I probably benign Het
Setd2 T A 9: 110,423,700 (GRCm39) S474T Het
Slc1a2 T A 2: 102,570,275 (GRCm39) C184* probably null Het
Slc2a4 G A 11: 69,837,202 (GRCm39) T78I probably benign Het
Slc4a4 T A 5: 89,277,509 (GRCm39) I317N possibly damaging Het
Smad9 G A 3: 54,693,747 (GRCm39) probably null Het
Sst T C 16: 23,708,576 (GRCm39) E85G probably damaging Het
Sting1 T C 18: 35,871,766 (GRCm39) Y162C probably damaging Het
Svep1 T G 4: 58,066,468 (GRCm39) E3205D possibly damaging Het
Tmc7 G T 7: 118,141,189 (GRCm39) S647R probably benign Het
Trnt1 T C 6: 106,751,493 (GRCm39) S157P possibly damaging Het
Ttc6 A T 12: 57,719,922 (GRCm39) H831L probably benign Het
Vmn1r121 A G 7: 20,832,095 (GRCm39) F115S probably damaging Het
Vwa7 A G 17: 35,238,020 (GRCm39) D207G possibly damaging Het
Vwde C A 6: 13,204,980 (GRCm39) K300N probably null Het
Zfp418 A G 7: 7,184,396 (GRCm39) T120A possibly damaging Het
Zfp687 C T 3: 94,914,841 (GRCm39) R1220H 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
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'- GCTTGTACCAGATCCCTAGC -3'
(R):5'- TTACTGACCGTGTTGTACCCG -3'

Sequencing Primer
(F):5'- TGTACCAGATCCCTAGCCCACC -3'
(R):5'- CGTGTTGTACCCGCACAC -3'
Posted On 2019-10-17