Incidental Mutation 'IGL03204:Klhl40'
ID 413096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl40
Ensembl Gene ENSMUSG00000074001
Gene Name kelch-like 40
Synonyms 2310024D23Rik, Kbtbd5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # IGL03204
Quality Score
Status
Chromosome 9
Chromosomal Location 121606673-121612884 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121611696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 570 (T570S)
Ref Sequence ENSEMBL: ENSMUSP00000095873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035110] [ENSMUST00000098272] [ENSMUST00000163981]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035110
SMART Domains Protein: ENSMUSP00000035110
Gene: ENSMUSG00000032523

DomainStartEndE-ValueType
transmembrane domain 12 31 N/A INTRINSIC
Pfam:MBOAT 63 448 2.7e-15 PFAM
transmembrane domain 460 482 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098272
AA Change: T570S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000095873
Gene: ENSMUSG00000074001
AA Change: T570S

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 probably benign
Transcript: ENSMUST00000163981
SMART Domains Protein: ENSMUSP00000131971
Gene: ENSMUSG00000032523

DomainStartEndE-ValueType
transmembrane domain 12 31 N/A INTRINSIC
transmembrane domain 65 87 N/A INTRINSIC
Pfam:MBOAT 97 444 3.7e-16 PFAM
transmembrane domain 460 482 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215257
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216358
Coding Region Coverage
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd14a A T 9: 106,317,834 (GRCm39) F191I probably damaging Het
Actc1 A T 2: 113,880,011 (GRCm39) S201T possibly damaging Het
Ankrd36 T A 11: 5,534,023 (GRCm39) D291E possibly damaging Het
Bltp1 A G 3: 37,105,083 (GRCm39) probably benign Het
Btbd7 T A 12: 102,774,239 (GRCm39) R510* probably null Het
Cfap20dc A G 14: 8,644,436 (GRCm38) I80T possibly damaging Het
Eif4a3 A T 11: 119,184,442 (GRCm39) D249E possibly damaging Het
Elovl6 A G 3: 129,426,993 (GRCm39) M220V probably benign Het
Ets1 C T 9: 32,644,308 (GRCm39) S156L possibly damaging Het
Gja8 C T 3: 96,827,408 (GRCm39) V85I probably damaging Het
Glipr2 T A 4: 43,970,507 (GRCm39) D7E probably benign Het
Il22 C T 10: 118,041,085 (GRCm39) probably benign Het
Itln1 A G 1: 171,358,172 (GRCm39) V80A probably damaging Het
Kdr A T 5: 76,133,042 (GRCm39) C79S possibly damaging Het
Kif26a A T 12: 112,141,213 (GRCm39) H672L probably damaging Het
Macf1 A G 4: 123,249,070 (GRCm39) probably benign Het
Magi3 T A 3: 104,013,151 (GRCm39) N112I probably damaging Het
Moxd2 T C 6: 40,864,239 (GRCm39) T64A probably benign Het
Myh4 T C 11: 67,141,122 (GRCm39) V728A possibly damaging Het
Or8u10 G T 2: 85,916,015 (GRCm39) Y35* probably null Het
Prkdc A G 16: 15,587,665 (GRCm39) I2517V probably benign Het
Ralgapb A G 2: 158,307,832 (GRCm39) I1047V possibly damaging Het
Smg9 A G 7: 24,120,337 (GRCm39) E437G probably benign Het
Snx4 A G 16: 33,090,039 (GRCm39) K188R probably benign Het
Sox14 A G 9: 99,757,110 (GRCm39) S210P probably benign Het
Spata1 A G 3: 146,194,434 (GRCm39) F77L probably benign Het
Spata18 G T 5: 73,828,449 (GRCm39) probably benign Het
Stard9 G A 2: 120,536,283 (GRCm39) D4151N probably damaging Het
Wdr59 T C 8: 112,212,002 (GRCm39) H356R probably benign Het
Zfp462 A G 4: 55,080,785 (GRCm39) D1380G possibly 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
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
R5228:Klhl40 UTSW 9 121,606,867 (GRCm39) missense probably benign 0.02
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
Posted On 2016-08-02