Incidental Mutation 'IGL01391:Klhl40'
ID79203
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: 0.099) question?
Stock #IGL01391
Quality Score
Status
Chromosome9
Chromosomal Location121777607-121783818 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121778917 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 381 (Y381C)
Ref Sequence ENSEMBL: ENSMUSP00000095873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098272]
Predicted Effect probably damaging
Transcript: ENSMUST00000098272
AA Change: Y381C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095873
Gene: ENSMUSG00000074001
AA Change: Y381C

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3m2 T A 8: 22,799,647 I147F probably benign Het
Areg T A 5: 91,141,095 S87T probably damaging Het
Arid1b T A 17: 5,318,858 probably benign Het
Arl6ip6 A G 2: 53,192,144 R8G probably benign Het
Brms1 A G 19: 5,046,695 E135G possibly damaging Het
Ccser1 A G 6: 61,638,521 probably benign Het
Dock3 A T 9: 106,907,234 M258K possibly damaging Het
Epb41l4a T G 18: 33,801,625 D562A possibly damaging Het
Etaa1 G A 11: 17,946,005 T704I probably damaging Het
Fer1l4 T A 2: 156,036,456 H972L probably damaging Het
Foxn1 A G 11: 78,361,494 M356T probably damaging Het
Gfral C A 9: 76,164,825 G388* probably null Het
Gm10436 C T 12: 88,178,455 V34I possibly damaging Het
Gm12258 A G 11: 58,848,694 T3A probably benign Het
Hoxa5 T C 6: 52,204,331 N7S probably damaging Het
Itgb4 T C 11: 115,990,920 L765P probably damaging Het
Jchain C T 5: 88,521,524 C90Y probably damaging Het
Lhx6 A T 2: 36,103,465 C74S probably benign Het
Magel2 A G 7: 62,380,884 S1179G unknown Het
Mapre3 T C 5: 30,864,897 I236T probably damaging Het
Mcf2l A T 8: 13,014,010 probably null Het
Med13 A T 11: 86,328,497 H374Q probably benign Het
Meioc A G 11: 102,674,287 Y187C probably benign Het
Myh1 G A 11: 67,217,863 M1368I probably benign Het
Olfr304 A T 7: 86,386,000 I220N possibly damaging Het
Olfr921 A G 9: 38,775,530 I92V probably damaging Het
Phrf1 T C 7: 141,262,481 Y1501H probably damaging Het
Pigb T C 9: 73,022,291 T337A probably damaging Het
Pls1 T C 9: 95,773,698 K334E probably benign Het
Rab3b T C 4: 108,940,802 C226R probably damaging Het
Ryr2 A T 13: 11,556,685 I4889N possibly damaging Het
Serpinb1a G A 13: 32,845,415 S210L probably benign Het
Slc52a3 A G 2: 152,007,602 I390V probably benign Het
Slc6a7 C A 18: 61,003,310 A340S probably damaging Het
Tcaf3 T C 6: 42,593,681 Y379C probably damaging Het
Tex261 A G 6: 83,771,240 V180A probably benign Het
Tnnt1 C T 7: 4,514,212 probably null Het
Ttn T C 2: 76,968,503 T476A possibly damaging Het
Vcan A G 13: 89,704,169 S891P probably benign Het
Vmn2r16 T A 5: 109,363,761 D611E possibly damaging Het
Vmn2r68 T C 7: 85,237,611 T32A probably benign Het
Vwde T G 6: 13,190,527 S522R probably benign Het
Wdr3 G A 3: 100,146,789 probably benign Het
Wfs1 G T 5: 36,971,563 Q288K probably benign Het
Zfp142 A G 1: 74,579,540 V120A probably damaging Het
Zfp672 A G 11: 58,317,366 F43S probably damaging Het
Znhit3 A T 11: 84,911,457 probably benign Het
Other mutations in Klhl40
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03204:Klhl40 APN 9 121782630 missense probably benign 0.03
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
R7992:Klhl40 UTSW 9 121778682 missense probably damaging 1.00
R8171:Klhl40 UTSW 9 121778557 missense probably benign 0.14
R8544:Klhl40 UTSW 9 121778826 missense probably damaging 0.99
R8669:Klhl40 UTSW 9 121778022 missense probably benign 0.01
R8838:Klhl40 UTSW 9 121780041 missense probably benign
Z1177:Klhl40 UTSW 9 121780693 missense probably benign 0.20
Posted On2013-11-05