Incidental Mutation 'R6769:Klhl5'
ID 532080
Institutional Source Beutler Lab
Gene Symbol Klhl5
Ensembl Gene ENSMUSG00000054920
Gene Name kelch-like 5
Synonyms 1300013C10Rik
MMRRC Submission 044885-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R6769 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 65264894-65325490 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65321995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 534 (Y534N)
Ref Sequence ENSEMBL: ENSMUSP00000144976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101191] [ENSMUST00000203538] [ENSMUST00000204097] [ENSMUST00000204348]
AlphaFold Q6PFE1
Predicted Effect probably damaging
Transcript: ENSMUST00000101191
AA Change: Y674N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098752
Gene: ENSMUSG00000054920
AA Change: Y674N

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 benign
Transcript: ENSMUST00000203538
SMART Domains Protein: ENSMUSP00000145269
Gene: ENSMUSG00000054920

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: Y534N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144976
Gene: ENSMUSG00000054920
AA Change: Y534N

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: Y613N
SMART Domains Protein: ENSMUSP00000144732
Gene: ENSMUSG00000054920
AA Change: Y613N

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 0.5723 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 98% (39/40)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 G T 8: 71,914,105 (GRCm39) H174Q probably damaging Het
Alox5 C A 6: 116,392,145 (GRCm39) probably null Het
Amer3 C A 1: 34,627,330 (GRCm39) A523D possibly damaging Het
Apoa4 G A 9: 46,154,465 (GRCm39) M355I probably benign Het
Atp10b T C 11: 43,094,079 (GRCm39) probably null Het
Atp9a A T 2: 168,516,820 (GRCm39) Y340N probably damaging Het
C1rb T G 6: 124,554,364 (GRCm39) S382A probably benign Het
Csmd1 A G 8: 16,121,408 (GRCm39) V1763A possibly damaging Het
Ctnnd1 C A 2: 84,450,269 (GRCm39) R317L probably damaging Het
Ctnnd1 A T 2: 84,450,454 (GRCm39) D255E probably damaging Het
Dipk1b A G 2: 26,524,875 (GRCm39) R92G probably benign Het
Dmxl2 A T 9: 54,323,808 (GRCm39) I1192N probably damaging Het
Efcab5 A G 11: 76,996,258 (GRCm39) V1101A probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Flg T C 3: 93,195,630 (GRCm39) probably benign Het
Fras1 A G 5: 96,746,800 (GRCm39) I623M possibly damaging Het
Gm7361 T A 5: 26,462,767 (GRCm39) L3* probably null Het
Gpr35 T A 1: 92,910,426 (GRCm39) M46K probably damaging Het
Ighv2-9 A T 12: 113,842,930 (GRCm39) F46I possibly damaging Het
Kdm4b C T 17: 56,658,754 (GRCm39) A33V possibly damaging Het
Mccc1 C T 3: 36,043,992 (GRCm39) probably null Het
Memo1 A T 17: 74,508,273 (GRCm39) F270L probably damaging Het
Mnat1 A G 12: 73,319,196 (GRCm39) N273S probably benign Het
Niban2 C T 2: 32,785,666 (GRCm39) Het
Nxpe3 C A 16: 55,686,471 (GRCm39) G179V probably damaging Het
Or5b120 T A 19: 13,480,318 (GRCm39) F204I possibly damaging Het
Otp A G 13: 95,012,294 (GRCm39) D6G probably damaging Het
Prdm5 T A 6: 65,839,920 (GRCm39) I265K probably damaging Het
Ptpn4 T A 1: 119,643,698 (GRCm39) N350I probably benign Het
Rassf10 A G 7: 112,553,635 (GRCm39) M79V probably benign Het
Rassf4 T A 6: 116,618,433 (GRCm39) D215V possibly damaging Het
Rbm12 A T 2: 155,939,375 (GRCm39) I299N possibly damaging Het
Scfd2 T C 5: 74,692,117 (GRCm39) H55R probably benign Het
Scn8a A G 15: 100,933,445 (GRCm39) N1550D probably benign Het
Skic2 G A 17: 35,064,166 (GRCm39) R507* probably null Het
Slc30a5 A C 13: 100,950,368 (GRCm39) S240A probably benign Het
Slc7a4 A G 16: 17,393,184 (GRCm39) V205A possibly damaging Het
Syde2 G A 3: 145,704,803 (GRCm39) G318E probably damaging Het
Ttn T A 2: 76,538,883 (GRCm39) D34649V possibly damaging Het
Vmn2r83 T A 10: 79,313,856 (GRCm39) S155T 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
R1181:Klhl5 UTSW 5 65,320,228 (GRCm39) missense probably damaging 0.99
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
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'- TTGCACACAAAACATTTCAGGAGC -3'
(R):5'- AAAATCAGACACTGCATCTTGG -3'

Sequencing Primer
(F):5'- GCAATATCAGCTCGAGTTGTAAAC -3'
(R):5'- TCCGTTCAAGTGCTGAGAAC -3'
Posted On 2018-08-29