Incidental Mutation 'R1181:Klhl5'
ID 101558
Institutional Source Beutler Lab
Gene Symbol Klhl5
Ensembl Gene ENSMUSG00000054920
Gene Name kelch-like 5
Synonyms 1300013C10Rik
MMRRC Submission 039253-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R1181 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 65264894-65325490 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65320228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 594 (M594T)
Ref Sequence ENSEMBL: ENSMUSP00000098752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101191] [ENSMUST00000203538] [ENSMUST00000204097] [ENSMUST00000204348]
AlphaFold Q6PFE1
Predicted Effect probably damaging
Transcript: ENSMUST00000101191
AA Change: M594T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098752
Gene: ENSMUSG00000054920
AA Change: M594T

DomainStartEndE-ValueType
low complexity region 114 137 N/A INTRINSIC
BTB 173 270 1.5e-28 SMART
BACK 275 376 7.85e-36 SMART
Kelch 421 467 1.12e-11 SMART
Kelch 468 514 3.2e-16 SMART
Kelch 515 561 1.51e-12 SMART
Kelch 562 608 4.6e-17 SMART
Kelch 609 661 2.84e-8 SMART
Kelch 662 708 1.83e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000203538
AA Change: M219T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145269
Gene: ENSMUSG00000054920
AA Change: M219T

DomainStartEndE-ValueType
Kelch 46 92 3.7e-14 SMART
Kelch 93 139 1.1e-18 SMART
Kelch 140 186 5.1e-15 SMART
Kelch 187 233 1.5e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204097
AA Change: M454T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144976
Gene: ENSMUSG00000054920
AA Change: M454T

DomainStartEndE-ValueType
BTB 33 130 1.5e-28 SMART
BACK 135 236 7.85e-36 SMART
Kelch 281 327 1.12e-11 SMART
Kelch 328 374 3.2e-16 SMART
Kelch 375 421 1.51e-12 SMART
Kelch 422 468 4.6e-17 SMART
Kelch 469 521 2.84e-8 SMART
Kelch 522 568 1.83e-11 SMART
Predicted Effect unknown
Transcript: ENSMUST00000204348
AA Change: M533T
SMART Domains Protein: ENSMUSP00000144732
Gene: ENSMUSG00000054920
AA Change: M533T

DomainStartEndE-ValueType
BTB 111 209 1.32e-15 SMART
BACK 214 315 7.85e-36 SMART
Kelch 360 406 1.12e-11 SMART
Kelch 407 453 3.2e-16 SMART
Kelch 454 500 1.51e-12 SMART
Kelch 501 547 4.6e-17 SMART
Kelch 548 600 2.84e-8 SMART
Kelch 601 647 1.83e-11 SMART
Meta Mutation Damage Score 0.9156 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 97.9%
  • 10x: 93.9%
  • 20x: 84.2%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 T A 19: 4,922,638 (GRCm39) Q64L probably benign Het
Ankrd12 T C 17: 66,349,569 (GRCm39) N88S probably benign Het
Apcdd1 A T 18: 63,070,168 (GRCm39) Y145F probably damaging Het
Bnipl C A 3: 95,152,960 (GRCm39) probably null Het
Bod1 T C 11: 31,616,943 (GRCm39) probably benign Het
Cbarp G T 10: 79,971,328 (GRCm39) H166N probably damaging Het
Cdr2l T A 11: 115,285,005 (GRCm39) I447N probably damaging Het
Cped1 T G 6: 22,215,561 (GRCm39) I698M probably damaging Het
Ecm1 G A 3: 95,642,662 (GRCm39) H404Y possibly damaging Het
Ehbp1 C T 11: 22,012,831 (GRCm39) V902I probably benign Het
Eps8 T C 6: 137,499,852 (GRCm39) Q209R possibly damaging Het
Fastk C T 5: 24,646,729 (GRCm39) probably null Het
Gm6797 T A X: 8,508,004 (GRCm39) noncoding transcript Het
Gp1ba C T 11: 70,532,253 (GRCm39) P673L probably damaging Het
Gstm1 A G 3: 107,922,127 (GRCm39) F170S probably damaging Het
Hgf G C 5: 16,823,923 (GRCm39) G707R probably damaging Het
Kyat3 A C 3: 142,443,531 (GRCm39) probably null Het
Mettl14 C T 3: 123,167,651 (GRCm39) G236S probably damaging Het
Nob1 G A 8: 108,148,122 (GRCm39) P107S probably damaging Het
Nup58 A T 14: 60,482,119 (GRCm39) probably benign Het
Or2a56 T A 6: 42,932,492 (GRCm39) L20Q probably benign Het
Or52e7 T A 7: 104,685,021 (GRCm39) N205K probably damaging Het
Or52n4b C A 7: 108,144,509 (GRCm39) T257N probably benign Het
Or5b109 C A 19: 13,212,195 (GRCm39) H194N probably benign Het
Or5d16 G A 2: 87,773,490 (GRCm39) L161F probably benign Het
Or6c65 A G 10: 129,604,033 (GRCm39) I223V probably benign Het
Pald1 A G 10: 61,183,366 (GRCm39) probably benign Het
Pds5a A T 5: 65,784,545 (GRCm39) probably null Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plekha2 A C 8: 25,549,218 (GRCm39) S189A probably benign Het
Prune2 T C 19: 17,100,469 (GRCm39) V1991A probably benign Het
Sec61g A C 11: 16,454,722 (GRCm39) probably benign Het
Serinc3 T C 2: 163,467,446 (GRCm39) K445R probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Slfn8 T C 11: 82,907,571 (GRCm39) E324G probably benign Het
Spink13 A G 18: 62,741,241 (GRCm39) probably benign Het
Tas2r121 A T 6: 132,677,132 (GRCm39) I280N probably damaging Het
Tbc1d7 T C 13: 43,306,615 (GRCm39) I242M probably damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tnni3k A T 3: 154,581,150 (GRCm39) H600Q probably damaging Het
Trim66 C T 7: 109,083,784 (GRCm39) probably null Het
Ttn A T 2: 76,800,047 (GRCm39) I387N probably damaging Het
Tulp3 A T 6: 128,302,915 (GRCm39) H301Q possibly damaging Het
Ubqln5 T A 7: 103,777,948 (GRCm39) Q292L probably damaging Het
Zfp454 T C 11: 50,764,413 (GRCm39) K229E probably damaging Het
Other mutations in Klhl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:Klhl5 APN 5 65,306,143 (GRCm39) missense probably damaging 0.98
IGL02700:Klhl5 APN 5 65,288,773 (GRCm39) nonsense probably null
R0064:Klhl5 UTSW 5 65,298,631 (GRCm39) missense probably benign 0.13
R0142:Klhl5 UTSW 5 65,300,693 (GRCm39) nonsense probably null
R0783:Klhl5 UTSW 5 65,313,596 (GRCm39) splice site probably benign
R0828:Klhl5 UTSW 5 65,320,135 (GRCm39) missense probably damaging 1.00
R1160:Klhl5 UTSW 5 65,298,683 (GRCm39) missense probably benign 0.13
R1611:Klhl5 UTSW 5 65,321,992 (GRCm39) missense probably benign 0.00
R1903:Klhl5 UTSW 5 65,324,330 (GRCm39) missense probably benign 0.37
R4880:Klhl5 UTSW 5 65,316,244 (GRCm39) missense probably damaging 1.00
R4961:Klhl5 UTSW 5 65,310,033 (GRCm39) intron probably benign
R5204:Klhl5 UTSW 5 65,288,781 (GRCm39) missense possibly damaging 0.95
R5389:Klhl5 UTSW 5 65,298,625 (GRCm39) missense possibly damaging 0.76
R5921:Klhl5 UTSW 5 65,320,299 (GRCm39) missense probably damaging 0.96
R6769:Klhl5 UTSW 5 65,321,995 (GRCm39) missense probably damaging 1.00
R6771:Klhl5 UTSW 5 65,321,995 (GRCm39) missense probably damaging 1.00
R7008:Klhl5 UTSW 5 65,300,592 (GRCm39) missense probably benign 0.02
R7214:Klhl5 UTSW 5 65,289,098 (GRCm39) missense probably benign
R7227:Klhl5 UTSW 5 65,298,631 (GRCm39) missense probably benign 0.00
R7239:Klhl5 UTSW 5 65,318,529 (GRCm39) missense probably damaging 1.00
R7400:Klhl5 UTSW 5 65,305,933 (GRCm39) missense possibly damaging 0.81
R7796:Klhl5 UTSW 5 65,321,965 (GRCm39) missense probably damaging 1.00
R8081:Klhl5 UTSW 5 65,320,268 (GRCm39) missense possibly damaging 0.94
R8108:Klhl5 UTSW 5 65,305,930 (GRCm39) critical splice acceptor site probably null
R8185:Klhl5 UTSW 5 65,313,471 (GRCm39) missense probably damaging 0.99
R8424:Klhl5 UTSW 5 65,320,305 (GRCm39) missense probably benign 0.10
R8691:Klhl5 UTSW 5 65,306,881 (GRCm39) intron probably benign
R8818:Klhl5 UTSW 5 65,305,989 (GRCm39) missense probably benign 0.23
R9233:Klhl5 UTSW 5 65,300,673 (GRCm39) missense possibly damaging 0.95
R9456:Klhl5 UTSW 5 65,305,939 (GRCm39) missense probably damaging 1.00
R9528:Klhl5 UTSW 5 65,313,586 (GRCm39) critical splice donor site probably null
R9688:Klhl5 UTSW 5 65,321,930 (GRCm39) missense probably damaging 1.00
R9744:Klhl5 UTSW 5 65,320,255 (GRCm39) missense probably damaging 1.00
X0009:Klhl5 UTSW 5 65,320,264 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TGTCACAGCAATAGCCTGTTGACC -3'
(R):5'- TCCCGAGGGAATATGTGAGATCCAG -3'

Sequencing Primer
(F):5'- TGTTGACCCCAGCACTGTG -3'
(R):5'- TGAGATCCAGGAATCTCAGTGC -3'
Posted On 2014-01-15