Incidental Mutation 'R5228:Klhl40'
ID 402741
Institutional Source Beutler Lab
Gene Symbol Klhl40
Ensembl Gene ENSMUSG00000074001
Gene Name kelch-like 40
Synonyms 2310024D23Rik, Kbtbd5
MMRRC Submission 042801-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R5228 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 121606673-121612884 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121606867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 9 (E9G)
Ref Sequence ENSEMBL: ENSMUSP00000095873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098272]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000098272
AA Change: E9G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000095873
Gene: ENSMUSG00000074001
AA Change: E9G

DomainStartEndE-ValueType
BTB 33 128 4.61e-29 SMART
BACK 133 239 9.46e-30 SMART
low complexity region 262 276 N/A INTRINSIC
Blast:BTB 300 355 2e-27 BLAST
Kelch 360 412 1.77e0 SMART
Kelch 413 462 1.29e-2 SMART
Kelch 463 510 4.68e-9 SMART
Kelch 511 557 2.06e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215257
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216358
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous disruption of this gene results in postnatal growth retardation, abnormal sarcomere morphology, skeletal muscle dysfunction, and complete postnatal lethality. Homozygotes for a null allele develop a nemaline-like myopathy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T C 13: 12,303,545 (GRCm39) probably null Het
Agrn G T 4: 156,251,403 (GRCm39) A1864D probably damaging Het
Ahnak2 A G 12: 112,741,820 (GRCm39) S751P probably benign Het
Aifm2 T C 10: 61,568,196 (GRCm39) V201A probably damaging Het
C1rl C T 6: 124,485,427 (GRCm39) A266V probably damaging Het
Clec2h G T 6: 128,651,749 (GRCm39) A153S probably benign Het
Dnah7a T C 1: 53,476,768 (GRCm39) probably null Het
Frmpd1 T C 4: 45,284,322 (GRCm39) S1048P probably damaging Het
Galnt16 A T 12: 80,630,822 (GRCm39) D300V probably damaging Het
Gbp8 G T 5: 105,164,051 (GRCm39) Q416K probably benign Het
Gldn C T 9: 54,242,003 (GRCm39) T319I probably damaging Het
Gli2 T A 1: 118,763,936 (GRCm39) D1405V probably damaging Het
Gtsf2 A G 15: 103,353,042 (GRCm39) Y45H probably damaging Het
Hmcn1 C A 1: 150,522,452 (GRCm39) V3483F probably benign Het
Hspa12b T C 2: 130,984,884 (GRCm39) V385A possibly damaging Het
Ibtk T C 9: 85,608,742 (GRCm39) E390G possibly damaging Het
Inpp4b C G 8: 82,494,744 (GRCm39) P53R probably damaging Het
Ipo7 T A 7: 109,645,969 (GRCm39) C504S probably benign Het
Iws1 A G 18: 32,221,314 (GRCm39) D549G probably damaging Het
Kcnh4 T C 11: 100,637,722 (GRCm39) D645G probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Morc2a T C 11: 3,635,439 (GRCm39) V810A probably damaging Het
Myo1e C A 9: 70,229,640 (GRCm39) probably null Het
N4bp2 T C 5: 65,964,861 (GRCm39) V970A probably benign Het
Pira2 T A 7: 3,847,373 (GRCm39) K105N probably benign Het
Pml G A 9: 58,127,280 (GRCm39) R61C probably damaging Het
Pms2 T C 5: 143,860,415 (GRCm39) L76P probably damaging Het
Rlbp1 T G 7: 79,027,082 (GRCm39) T193P probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfi1 A ATCTTCCCAAAGCCAGTGG 11: 3,103,384 (GRCm39) probably benign Homo
Sh3rf2 T C 18: 42,286,246 (GRCm39) S548P possibly damaging Het
Slc4a4 A G 5: 89,304,384 (GRCm39) D609G possibly damaging Het
Slk A T 19: 47,613,771 (GRCm39) I876F probably damaging Het
Tcf20 G A 15: 82,740,156 (GRCm39) P432S probably benign Het
Tenm3 A C 8: 48,689,390 (GRCm39) S2066A probably damaging Het
Topors G C 4: 40,262,367 (GRCm39) L306V probably damaging Het
Trappc9 A T 15: 72,929,844 (GRCm39) S171T probably damaging Het
Ube2m G T 7: 12,769,697 (GRCm39) probably benign Het
Vmn1r37 T C 6: 66,709,282 (GRCm39) *266Q probably null Het
Vmn2r34 T C 7: 7,675,340 (GRCm39) T683A probably damaging Het
Other mutations in Klhl40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Klhl40 APN 9 121,607,983 (GRCm39) missense probably damaging 1.00
IGL02123:Klhl40 APN 9 121,608,989 (GRCm39) missense probably benign 0.01
IGL03059:Klhl40 APN 9 121,607,203 (GRCm39) missense probably damaging 1.00
IGL03124:Klhl40 APN 9 121,609,751 (GRCm39) missense probably damaging 1.00
IGL03204:Klhl40 APN 9 121,611,696 (GRCm39) missense probably benign 0.03
IGL03366:Klhl40 APN 9 121,612,446 (GRCm39) missense probably damaging 1.00
R0506:Klhl40 UTSW 9 121,607,133 (GRCm39) missense probably damaging 0.98
R1735:Klhl40 UTSW 9 121,609,004 (GRCm39) missense probably benign 0.00
R2430:Klhl40 UTSW 9 121,609,667 (GRCm39) missense possibly damaging 0.57
R3685:Klhl40 UTSW 9 121,611,724 (GRCm39) missense probably damaging 1.00
R3839:Klhl40 UTSW 9 121,609,482 (GRCm39) missense possibly damaging 0.93
R3929:Klhl40 UTSW 9 121,609,742 (GRCm39) missense probably benign
R4326:Klhl40 UTSW 9 121,607,956 (GRCm39) missense probably benign 0.37
R4328:Klhl40 UTSW 9 121,607,956 (GRCm39) missense probably benign 0.37
R4664:Klhl40 UTSW 9 121,609,799 (GRCm39) missense probably damaging 1.00
R4697:Klhl40 UTSW 9 121,607,800 (GRCm39) missense probably damaging 1.00
R6198:Klhl40 UTSW 9 121,607,833 (GRCm39) missense probably damaging 1.00
R6258:Klhl40 UTSW 9 121,607,026 (GRCm39) missense probably damaging 1.00
R7992:Klhl40 UTSW 9 121,607,748 (GRCm39) missense probably damaging 1.00
R8171:Klhl40 UTSW 9 121,607,623 (GRCm39) missense probably benign 0.14
R8544:Klhl40 UTSW 9 121,607,892 (GRCm39) missense probably damaging 0.99
R8669:Klhl40 UTSW 9 121,607,088 (GRCm39) missense probably benign 0.01
R8838:Klhl40 UTSW 9 121,609,107 (GRCm39) missense probably benign
R9239:Klhl40 UTSW 9 121,607,637 (GRCm39) missense probably benign 0.06
R9261:Klhl40 UTSW 9 121,609,002 (GRCm39) missense probably benign
R9402:Klhl40 UTSW 9 121,609,482 (GRCm39) missense possibly damaging 0.93
R9650:Klhl40 UTSW 9 121,609,083 (GRCm39) missense possibly damaging 0.80
R9671:Klhl40 UTSW 9 121,607,743 (GRCm39) missense probably benign
Z1177:Klhl40 UTSW 9 121,609,759 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- AGCTCCTCTTACAGGTTCTGGG -3'
(R):5'- TGTGTACAGGTAGTGCAGC -3'

Sequencing Primer
(F):5'- GGCATCCTCTATATATAGCCCAGGG -3'
(R):5'- TGTACAGGTAGTGCAGCACCTG -3'
Posted On 2016-07-22