Incidental Mutation 'IGL03204:Klhl40'
ID413096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl40
Ensembl Gene ENSMUSG00000074001
Gene Namekelch-like 40
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock #IGL03204
Quality Score
Status
Chromosome9
Chromosomal Location121777607-121783818 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 121782630 bp
ZygosityHeterozygous
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]
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
4930452B06Rik A G 14: 8,644,436 I80T possibly damaging Het
4932438A13Rik A G 3: 37,050,934 probably benign Het
Abhd14a A T 9: 106,440,635 F191I probably damaging Het
Actc1 A T 2: 114,049,530 S201T possibly damaging Het
Ankrd36 T A 11: 5,584,023 D291E possibly damaging Het
Btbd7 T A 12: 102,807,980 R510* probably null Het
Eif4a3 A T 11: 119,293,616 D249E possibly damaging Het
Elovl6 A G 3: 129,633,344 M220V probably benign Het
Ets1 C T 9: 32,733,012 S156L possibly damaging Het
Gja8 C T 3: 96,920,092 V85I probably damaging Het
Glipr2 T A 4: 43,970,507 D7E probably benign Het
Il22 C T 10: 118,205,180 probably benign Het
Itln1 A G 1: 171,530,604 V80A probably damaging Het
Kdr A T 5: 75,972,382 C79S possibly damaging Het
Kif26a A T 12: 112,174,779 H672L probably damaging Het
Macf1 A G 4: 123,355,277 probably benign Het
Magi3 T A 3: 104,105,835 N112I probably damaging Het
Moxd2 T C 6: 40,887,305 T64A probably benign Het
Myh4 T C 11: 67,250,296 V728A possibly damaging Het
Olfr1037 G T 2: 86,085,671 Y35* probably null Het
Prkdc A G 16: 15,769,801 I2517V probably benign Het
Ralgapb A G 2: 158,465,912 I1047V possibly damaging Het
Smg9 A G 7: 24,420,912 E437G probably benign Het
Snx4 A G 16: 33,269,669 K188R probably benign Het
Sox14 A G 9: 99,875,057 S210P probably benign Het
Spata1 A G 3: 146,488,679 F77L probably benign Het
Spata18 G T 5: 73,671,106 probably benign Het
Stard9 G A 2: 120,705,802 D4151N probably damaging Het
Wdr59 T C 8: 111,485,370 H356R probably benign Het
Zfp462 A G 4: 55,080,785 D1380G possibly damaging Het
Other mutations in Klhl40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Klhl40 APN 9 121778917 missense probably damaging 1.00
IGL02123:Klhl40 APN 9 121779923 missense probably benign 0.01
IGL03059:Klhl40 APN 9 121778137 missense probably damaging 1.00
IGL03124:Klhl40 APN 9 121780685 missense probably damaging 1.00
IGL03366:Klhl40 APN 9 121783380 missense probably damaging 1.00
R0506:Klhl40 UTSW 9 121778067 missense probably damaging 0.98
R1735:Klhl40 UTSW 9 121779938 missense probably benign 0.00
R2430:Klhl40 UTSW 9 121780601 missense possibly damaging 0.57
R3685:Klhl40 UTSW 9 121782658 missense probably damaging 1.00
R3839:Klhl40 UTSW 9 121780416 missense possibly damaging 0.93
R3929:Klhl40 UTSW 9 121780676 missense probably benign
R4326:Klhl40 UTSW 9 121778890 missense probably benign 0.37
R4328:Klhl40 UTSW 9 121778890 missense probably benign 0.37
R4664:Klhl40 UTSW 9 121780733 missense probably damaging 1.00
R4697:Klhl40 UTSW 9 121778734 missense probably damaging 1.00
R5228:Klhl40 UTSW 9 121777801 missense probably benign 0.02
R6198:Klhl40 UTSW 9 121778767 missense probably damaging 1.00
R6258:Klhl40 UTSW 9 121777960 missense probably damaging 1.00
Posted On2016-08-02