Incidental Mutation 'IGL02427:Kdm3a'
ID292979
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdm3a
Ensembl Gene ENSMUSG00000053470
Gene Namelysine (K)-specific demethylase 3A
SynonymsC230043E16Rik, Jmjd1a, Tsga, 1700105C21Rik, Jmjd1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.963) question?
Stock #IGL02427
Quality Score
Status
Chromosome6
Chromosomal Location71588972-71632990 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 71592200 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065509] [ENSMUST00000167220] [ENSMUST00000207023]
Predicted Effect probably benign
Transcript: ENSMUST00000065509
SMART Domains Protein: ENSMUSP00000065716
Gene: ENSMUSG00000053470

DomainStartEndE-ValueType
low complexity region 853 859 N/A INTRINSIC
JmjC 1060 1283 1.6e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167220
SMART Domains Protein: ENSMUSP00000128789
Gene: ENSMUSG00000053470

DomainStartEndE-ValueType
low complexity region 853 859 N/A INTRINSIC
JmjC 1060 1283 1.6e-56 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206582
Predicted Effect probably benign
Transcript: ENSMUST00000207023
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 zinc finger protein that contains a jumonji domain and may play a role in hormone-dependent transcriptional activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
PHENOTYPE: Male mice homozygous for a hypomorphic allele display infertility, oligoasthenoteratozoospermia, small testis, and impaired spermiogenesis. Mice homozygous for a null allele exhibit abnormal spermatogenesis and obesity associated with hyperlipidemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T A 7: 131,244,788 V647E probably damaging Het
A930011G23Rik C T 5: 99,233,970 G311D probably damaging Het
Ablim1 A T 19: 57,079,880 probably benign Het
Adgrg2 T C X: 160,491,404 F863S probably damaging Het
B3galt2 A T 1: 143,646,516 H130L probably benign Het
Bbs2 G A 8: 94,081,118 P378S possibly damaging Het
Ccdc154 A T 17: 25,171,757 probably null Het
Ccdc88c C T 12: 100,921,592 C1543Y probably damaging Het
Cfap77 A T 2: 28,955,580 C258* probably null Het
Cpsf4l T G 11: 113,709,498 probably benign Het
Csrnp3 G A 2: 65,878,036 probably benign Het
Cul9 G A 17: 46,502,632 T2305I possibly damaging Het
Cwf19l1 G A 19: 44,133,023 Q29* probably null Het
Cwf19l2 G T 9: 3,456,817 V717L probably benign Het
Cyp1a1 A G 9: 57,700,575 Y162C probably damaging Het
Dlg5 T C 14: 24,166,207 D589G probably damaging Het
Dmbt1 G T 7: 131,088,085 probably null Het
Dtna T C 18: 23,651,538 Y705H possibly damaging Het
Fam129a A T 1: 151,717,274 D570V probably damaging Het
Fancd2 T A 6: 113,549,352 probably null Het
Frem2 T A 3: 53,535,763 N2527Y probably damaging Het
Gm7694 T C 1: 170,302,544 D95G probably benign Het
Haus5 T C 7: 30,661,771 T115A probably benign Het
Klra6 T C 6: 130,016,717 D197G possibly damaging Het
Lap3 T C 5: 45,511,133 V429A probably damaging Het
Mroh2b G T 15: 4,951,560 probably benign Het
Myh9 T A 15: 77,775,804 Q88L probably damaging Het
Myo5a T C 9: 75,176,618 probably benign Het
Negr1 C T 3: 156,562,190 probably benign Het
Nlrp9b T G 7: 20,042,501 C337W probably damaging Het
Obscn A T 11: 59,067,162 C3780S probably damaging Het
Olfr378 A T 11: 73,425,661 F107L probably damaging Het
Piwil2 T A 14: 70,398,134 probably benign Het
Ppp6r3 T C 19: 3,466,580 S213G probably null Het
Pxdn T A 12: 29,984,532 C39S probably damaging Het
Raf1 T C 6: 115,631,327 N241S probably benign Het
Rapgef3 A T 15: 97,747,136 probably null Het
Rhox2h C T X: 37,672,873 G72D probably benign Het
Sbf1 T C 15: 89,305,985 probably benign Het
Sema5a T C 15: 32,673,544 probably benign Het
Setbp1 T C 18: 78,857,473 D993G probably damaging Het
Slc5a4b A T 10: 76,058,879 C598S possibly damaging Het
Sorl1 T C 9: 42,041,690 D685G probably damaging Het
Sulf2 C T 2: 166,089,298 R263H probably damaging Het
Tbx22 C A X: 107,681,171 P17T probably damaging Het
Tspoap1 A T 11: 87,762,515 T136S probably benign Het
Tyw5 T C 1: 57,388,725 E240G possibly damaging Het
Umodl1 C T 17: 30,968,441 probably benign Het
Vmn1r60 T C 7: 5,544,781 T107A probably damaging Het
Zbbx T C 3: 75,139,598 T121A probably benign Het
Zbtb11 A G 16: 55,982,350 D241G possibly damaging Het
Zfp445 T C 9: 122,852,230 H882R probably benign Het
Zscan30 T C 18: 23,971,476 noncoding transcript Het
Other mutations in Kdm3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02168:Kdm3a APN 6 71600117 missense probably damaging 1.00
IGL02219:Kdm3a APN 6 71600734 missense probably benign 0.01
IGL02423:Kdm3a APN 6 71614003 splice site probably benign
IGL02519:Kdm3a APN 6 71611586 missense probably benign 0.04
IGL03143:Kdm3a APN 6 71596861 missense probably damaging 0.98
IGL03279:Kdm3a APN 6 71611675 missense probably benign
R0194:Kdm3a UTSW 6 71624594 missense probably null 0.44
R0408:Kdm3a UTSW 6 71611679 missense probably benign 0.00
R0426:Kdm3a UTSW 6 71600755 missense probably damaging 1.00
R0608:Kdm3a UTSW 6 71620046 missense probably benign 0.01
R1175:Kdm3a UTSW 6 71600027 missense possibly damaging 0.94
R1835:Kdm3a UTSW 6 71613956 missense probably benign 0.14
R3821:Kdm3a UTSW 6 71611677 missense probably benign 0.00
R5083:Kdm3a UTSW 6 71621362 missense probably damaging 1.00
R5536:Kdm3a UTSW 6 71611936 missense probably benign 0.31
R5903:Kdm3a UTSW 6 71632250 start gained probably benign
R5965:Kdm3a UTSW 6 71621380 missense probably benign 0.21
R6236:Kdm3a UTSW 6 71611657 missense probably benign 0.00
R6541:Kdm3a UTSW 6 71594533 missense possibly damaging 0.69
R6666:Kdm3a UTSW 6 71611990 missense probably benign 0.00
R7090:Kdm3a UTSW 6 71595545 missense possibly damaging 0.69
R7112:Kdm3a UTSW 6 71632170 missense probably benign
R7136:Kdm3a UTSW 6 71611780 missense probably benign 0.00
R7163:Kdm3a UTSW 6 71632077 missense probably damaging 1.00
R7608:Kdm3a UTSW 6 71600747 missense probably benign 0.01
R7614:Kdm3a UTSW 6 71591953 missense possibly damaging 0.82
R7683:Kdm3a UTSW 6 71599454 missense probably benign
R7687:Kdm3a UTSW 6 71599492 missense possibly damaging 0.64
R7868:Kdm3a UTSW 6 71595489 missense probably benign 0.31
R8447:Kdm3a UTSW 6 71611897 missense probably benign
RF053:Kdm3a UTSW 6 71632049 critical splice donor site probably benign
Posted On2015-04-16