Incidental Mutation 'R4936:Klhl18'
ID 380390
Institutional Source Beutler Lab
Gene Symbol Klhl18
Ensembl Gene ENSMUSG00000054792
Gene Name kelch-like 18
Synonyms
MMRRC Submission 042536-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4936 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 110254994-110305762 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 110258029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 470 (N470K)
Ref Sequence ENSEMBL: ENSMUSP00000143634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068025] [ENSMUST00000198164] [ENSMUST00000198400]
AlphaFold E9Q4F2
Predicted Effect possibly damaging
Transcript: ENSMUST00000068025
AA Change: N465K

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000069674
Gene: ENSMUSG00000054792
AA Change: N465K

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 possibly damaging
Transcript: ENSMUST00000198164
AA Change: N470K

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143634
Gene: ENSMUSG00000054792
AA Change: N470K

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 possibly damaging
Transcript: ENSMUST00000198400
AA Change: N400K

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143384
Gene: ENSMUSG00000054792
AA Change: N400K

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
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T A 17: 35,879,212 (GRCm39) F183L possibly damaging Het
4930590J08Rik T A 6: 91,921,245 (GRCm39) M775K probably damaging Het
Actn1 T G 12: 80,219,772 (GRCm39) I700L probably benign Het
Adam5 T C 8: 25,276,287 (GRCm39) Y460C probably damaging Het
Akna C T 4: 63,313,502 (GRCm39) G207E probably damaging Het
Ank2 T A 3: 126,748,688 (GRCm39) H527L possibly damaging Het
Anks1 C A 17: 28,207,779 (GRCm39) N383K probably damaging Het
Apba3 C T 10: 81,105,204 (GRCm39) probably null Het
Atp9b C A 18: 80,779,308 (GRCm39) V1121F possibly damaging Het
Bsn T C 9: 107,988,960 (GRCm39) Y2264C probably damaging Het
Bst1 A G 5: 43,997,799 (GRCm39) D266G probably damaging Het
Cep55 A G 19: 38,060,202 (GRCm39) probably null Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Ckb T C 12: 111,637,664 (GRCm39) K156E probably benign Het
Cln3 T A 7: 126,174,393 (GRCm39) H315L probably damaging Het
Cnot6l A G 5: 96,227,796 (GRCm39) F479S probably damaging Het
Col1a1 A G 11: 94,837,958 (GRCm39) D826G unknown Het
Cyp27a1 T C 1: 74,774,564 (GRCm39) V194A probably benign Het
Dis3l2 C T 1: 86,971,890 (GRCm39) P643S probably benign Het
Dpf3 T C 12: 83,378,740 (GRCm39) D108G probably damaging Het
Eif2b4 C T 5: 31,350,241 (GRCm39) G27D probably benign Het
Eif4a1 T G 11: 69,563,251 (GRCm39) probably benign Het
Espl1 A T 15: 102,213,372 (GRCm39) D566V probably damaging Het
Ext2 T A 2: 93,644,024 (GRCm39) R86* probably null Het
Fasn A T 11: 120,706,911 (GRCm39) F914I probably damaging Het
Fbf1 A G 11: 116,043,378 (GRCm39) L477P probably benign Het
Fsd1 A T 17: 56,303,452 (GRCm39) K441N possibly damaging Het
Fsip2 T A 2: 82,815,384 (GRCm39) S3706T probably benign Het
Gabra5 A T 7: 57,058,547 (GRCm39) N400K probably benign Het
Gimap8 G T 6: 48,633,068 (GRCm39) G296W probably damaging Het
Gli2 A G 1: 118,763,870 (GRCm39) V1427A probably benign Het
Gm7334 A T 17: 51,005,855 (GRCm39) Y47F probably damaging Het
Gm8674 T G 13: 50,054,791 (GRCm39) noncoding transcript Het
Gmeb2 G T 2: 180,896,039 (GRCm39) T377K probably benign Het
Gp9 T A 6: 87,756,229 (GRCm39) D81E probably benign Het
Il5ra T A 6: 106,715,123 (GRCm39) I212F possibly damaging Het
Lfng G T 5: 140,598,150 (GRCm39) probably null Het
Lpo A G 11: 87,701,166 (GRCm39) I430T probably benign Het
Lrrc31 C T 3: 30,743,417 (GRCm39) D183N probably damaging Het
Meis2 T C 2: 115,694,893 (GRCm39) T410A probably benign Het
Myo6 A G 9: 80,214,963 (GRCm39) D1232G probably damaging Het
Ncapd2 C T 6: 125,146,803 (GRCm39) R1261H probably benign Het
Nfkb1 C T 3: 135,319,743 (GRCm39) V251M probably damaging Het
Nmbr C A 10: 14,642,730 (GRCm39) H96Q probably damaging Het
Nop14 C T 5: 34,809,737 (GRCm39) R256H probably damaging Het
Nqo2 T A 13: 34,165,501 (GRCm39) Y133N probably damaging Het
Or1f12 T C 13: 21,721,357 (GRCm39) I273V probably benign Het
Or5w20 A G 2: 87,727,157 (GRCm39) I213V probably benign Het
Pbld2 C A 10: 62,888,017 (GRCm39) S168R probably damaging Het
Pcdhb7 G T 18: 37,475,202 (GRCm39) G113* probably null Het
Pcdhb7 G T 18: 37,475,203 (GRCm39) G113V probably damaging Het
Pdgfra A T 5: 75,355,687 (GRCm39) T1066S probably damaging Het
Prdm8 A T 5: 98,332,881 (GRCm39) probably null Het
Prdm8 G T 5: 98,332,882 (GRCm39) probably null Het
Prkg1 T C 19: 30,563,775 (GRCm39) Y479C probably benign Het
Pudp T C 18: 50,701,539 (GRCm39) T65A probably benign Het
Rbbp6 C T 7: 122,598,926 (GRCm39) probably benign Het
Rcc1 C G 4: 132,063,046 (GRCm39) V187L probably damaging Het
Rims2 T A 15: 39,301,124 (GRCm39) M285K probably damaging Het
Rtkn2 T C 10: 67,877,745 (GRCm39) *602Q probably null Het
Rxfp3 T G 15: 11,036,866 (GRCm39) S169R probably damaging Het
Sardh T C 2: 27,118,253 (GRCm39) probably null Het
Slc24a2 A T 4: 87,145,584 (GRCm39) F157I probably damaging Het
Slc25a20 T C 9: 108,559,191 (GRCm39) Y186H probably damaging Het
Slc25a24 A G 3: 109,070,864 (GRCm39) R408G probably damaging Het
Slc44a5 T G 3: 153,959,353 (GRCm39) I348S probably damaging Het
Slc8a2 A T 7: 15,868,100 (GRCm39) K111* probably null Het
Smc5 A G 19: 23,211,367 (GRCm39) V589A probably damaging Het
Thbd A T 2: 148,249,655 (GRCm39) I71N probably damaging Het
Thsd7b T C 1: 129,605,882 (GRCm39) M541T probably benign Het
Tie1 T A 4: 118,341,968 (GRCm39) silent Het
Tln1 A G 4: 43,547,522 (GRCm39) F813S possibly damaging Het
Tnrc18 A T 5: 142,751,732 (GRCm39) L1191* probably null Het
Tubb2a A C 13: 34,259,240 (GRCm39) Y183* probably null Het
Ubr4 T A 4: 139,123,877 (GRCm39) V343E probably damaging Het
Vmn2r93 A T 17: 18,524,327 (GRCm39) D107V possibly damaging Het
Vwa5a T G 9: 38,647,494 (GRCm39) S624R probably benign Het
Wwox G A 8: 115,433,098 (GRCm39) V255I probably benign Het
Wwp1 T C 4: 19,638,804 (GRCm39) K546E probably damaging Het
Xirp2 T A 2: 67,340,163 (GRCm39) F801L possibly damaging Het
Zfp407 T C 18: 84,577,589 (GRCm39) I1175V probably benign Het
Zfp646 T A 7: 127,480,933 (GRCm39) C1037S possibly damaging Het
Zfp786 A T 6: 47,798,202 (GRCm39) C245* probably null Het
Zfp827 T C 8: 79,787,812 (GRCm39) V326A 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
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
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'- AACCTCCCACTGCATAGAGG -3'
(R):5'- GAGCAAGGGTACACACTAACTG -3'

Sequencing Primer
(F):5'- ATAGAGGCGCCCACAGCTG -3'
(R):5'- GGGTACACACTAACTGAACTCCCTG -3'
Posted On 2016-04-15