Incidental Mutation 'IGL02423:Kdm3a'
ID 292805
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdm3a
Ensembl Gene ENSMUSG00000053470
Gene Name lysine (K)-specific demethylase 3A
Synonyms 1700105C21Rik, Jmjd1, Jmjd1a, Tsga, C230043E16Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # IGL02423
Quality Score
Status
Chromosome 6
Chromosomal Location 71565954-71609963 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 71590987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065509] [ENSMUST00000167220] [ENSMUST00000205289] [ENSMUST00000207023]
AlphaFold Q6PCM1
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 probably benign
Transcript: ENSMUST00000205289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206704
Predicted Effect probably benign
Transcript: ENSMUST00000207023
Predicted Effect probably benign
Transcript: ENSMUST00000206916
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abca6 A G 11: 110,109,832 (GRCm39) probably benign Het
Adarb2 A T 13: 8,619,756 (GRCm39) R81W probably damaging Het
Adgrf4 T C 17: 42,983,467 (GRCm39) I72V probably benign Het
Banp A G 8: 122,733,830 (GRCm39) I360V probably benign Het
Bmp8a C A 4: 123,210,220 (GRCm39) G289C possibly damaging Het
Car3 A T 3: 14,931,911 (GRCm39) H94L probably damaging Het
Ccdc137 G A 11: 120,350,927 (GRCm39) R108H possibly damaging Het
Cdk14 T C 5: 4,938,905 (GRCm39) N411S probably benign Het
Col4a2 A G 8: 11,483,800 (GRCm39) M907V probably benign Het
Cyp4f17 T A 17: 32,725,923 (GRCm39) W19R possibly damaging Het
Dmxl2 A G 9: 54,301,032 (GRCm39) S2360P possibly damaging Het
Eif2d T G 1: 131,081,097 (GRCm39) probably benign Het
Epx A G 11: 87,762,144 (GRCm39) I369T possibly damaging Het
Fcgbp A G 7: 27,789,378 (GRCm39) E648G probably benign Het
Fer1l4 G A 2: 155,894,827 (GRCm39) P14L probably benign Het
Folr1 A G 7: 101,507,732 (GRCm39) F236S probably benign Het
Foxj2 T G 6: 122,819,732 (GRCm39) M540R possibly damaging Het
Gtf2h1 A G 7: 46,464,824 (GRCm39) T420A probably benign Het
H2-T3 T A 17: 36,498,248 (GRCm39) T222S probably damaging Het
Ice1 A T 13: 70,740,718 (GRCm39) M2163K probably damaging Het
Inppl1 A G 7: 101,481,450 (GRCm39) V244A probably benign Het
Kansl3 A T 1: 36,391,050 (GRCm39) V373D probably damaging Het
Krtap1-3 A T 11: 99,481,680 (GRCm39) C156S unknown Het
Mab21l3 T C 3: 101,726,045 (GRCm39) D317G probably damaging Het
Nherf1 A G 11: 115,054,539 (GRCm39) probably null Het
Nox3 T C 17: 3,733,191 (GRCm39) H240R probably damaging Het
Nxn A T 11: 76,164,858 (GRCm39) S218T probably benign Het
Or5h22 A T 16: 58,894,630 (GRCm39) I271K probably benign Het
Or6c35 G A 10: 129,169,397 (GRCm39) V216I probably benign Het
Pcdhb13 T C 18: 37,577,392 (GRCm39) V590A possibly damaging Het
Pim3 T C 15: 88,747,734 (GRCm39) V200A probably benign Het
Plekha3 T C 2: 76,510,524 (GRCm39) F20L probably damaging Het
Pmp22 G T 11: 63,049,118 (GRCm39) R120S possibly damaging Het
Ppp1r9a A C 6: 4,906,537 (GRCm39) D364A probably benign Het
Psd A G 19: 46,302,943 (GRCm39) F155L possibly damaging Het
Rbm22 T C 18: 60,704,891 (GRCm39) probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Ryr2 A T 13: 11,760,084 (GRCm39) F1556I probably damaging Het
Scap G A 9: 110,207,685 (GRCm39) A465T probably benign Het
Sdf2 A G 11: 78,141,844 (GRCm39) S60G probably damaging Het
Sema3a T C 5: 13,615,776 (GRCm39) I400T probably damaging Het
Ski T C 4: 155,244,191 (GRCm39) D478G probably damaging Het
Slc12a7 A T 13: 73,911,882 (GRCm39) probably benign Het
Sned1 A G 1: 93,211,322 (GRCm39) T1074A probably benign Het
Srebf2 A G 15: 82,059,298 (GRCm39) T239A probably damaging Het
Stk4 C T 2: 163,928,419 (GRCm39) H84Y probably benign Het
Syne1 G T 10: 5,318,295 (GRCm39) Q444K probably benign Het
Tecpr1 T A 5: 144,140,305 (GRCm39) I817F possibly damaging Het
Tep1 G T 14: 51,082,077 (GRCm39) Q1159K possibly damaging Het
Tmem39b G A 4: 129,572,442 (GRCm39) H387Y probably damaging Het
Tpp1 T C 7: 105,398,907 (GRCm39) H174R probably damaging Het
Ttn C T 2: 76,535,617 (GRCm39) V35134I probably benign Het
Usp34 A G 11: 23,304,900 (GRCm39) I378V probably benign Het
Vinac1 T C 2: 128,889,968 (GRCm39) E42G probably benign Het
Vmn2r1 T A 3: 63,997,665 (GRCm39) H440Q probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Zcchc7 T A 4: 44,931,244 (GRCm39) D144E possibly damaging Het
Zic4 C A 9: 91,266,228 (GRCm39) H284N probably damaging Het
Zkscan6 A G 11: 65,719,120 (GRCm39) H380R probably benign Het
Other mutations in Kdm3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02168:Kdm3a APN 6 71,577,101 (GRCm39) missense probably damaging 1.00
IGL02219:Kdm3a APN 6 71,577,718 (GRCm39) missense probably benign 0.01
IGL02427:Kdm3a APN 6 71,569,184 (GRCm39) splice site probably benign
IGL02519:Kdm3a APN 6 71,588,570 (GRCm39) missense probably benign 0.04
IGL03143:Kdm3a APN 6 71,573,845 (GRCm39) missense probably damaging 0.98
IGL03279:Kdm3a APN 6 71,588,659 (GRCm39) missense probably benign
R0194:Kdm3a UTSW 6 71,601,578 (GRCm39) missense probably null 0.44
R0408:Kdm3a UTSW 6 71,588,663 (GRCm39) missense probably benign 0.00
R0426:Kdm3a UTSW 6 71,577,739 (GRCm39) missense probably damaging 1.00
R0608:Kdm3a UTSW 6 71,597,030 (GRCm39) missense probably benign 0.01
R1175:Kdm3a UTSW 6 71,577,011 (GRCm39) missense possibly damaging 0.94
R1835:Kdm3a UTSW 6 71,590,940 (GRCm39) missense probably benign 0.14
R3821:Kdm3a UTSW 6 71,588,661 (GRCm39) missense probably benign 0.00
R5083:Kdm3a UTSW 6 71,598,346 (GRCm39) missense probably damaging 1.00
R5536:Kdm3a UTSW 6 71,588,920 (GRCm39) missense probably benign 0.31
R5903:Kdm3a UTSW 6 71,609,234 (GRCm39) start gained probably benign
R5965:Kdm3a UTSW 6 71,598,364 (GRCm39) missense probably benign 0.21
R6236:Kdm3a UTSW 6 71,588,641 (GRCm39) missense probably benign 0.00
R6541:Kdm3a UTSW 6 71,571,517 (GRCm39) missense possibly damaging 0.69
R6666:Kdm3a UTSW 6 71,588,974 (GRCm39) missense probably benign 0.00
R7090:Kdm3a UTSW 6 71,572,529 (GRCm39) missense possibly damaging 0.69
R7112:Kdm3a UTSW 6 71,609,154 (GRCm39) missense probably benign
R7136:Kdm3a UTSW 6 71,588,764 (GRCm39) missense probably benign 0.00
R7163:Kdm3a UTSW 6 71,609,061 (GRCm39) missense probably damaging 1.00
R7608:Kdm3a UTSW 6 71,577,731 (GRCm39) missense probably benign 0.01
R7614:Kdm3a UTSW 6 71,568,937 (GRCm39) missense possibly damaging 0.82
R7683:Kdm3a UTSW 6 71,576,438 (GRCm39) missense probably benign
R7687:Kdm3a UTSW 6 71,576,476 (GRCm39) missense possibly damaging 0.64
R7868:Kdm3a UTSW 6 71,572,473 (GRCm39) missense probably benign 0.31
R8447:Kdm3a UTSW 6 71,588,881 (GRCm39) missense probably benign
R8476:Kdm3a UTSW 6 71,588,693 (GRCm39) missense probably damaging 0.98
R8933:Kdm3a UTSW 6 71,577,092 (GRCm39) missense probably benign 0.00
R9046:Kdm3a UTSW 6 71,572,540 (GRCm39) missense probably damaging 1.00
R9211:Kdm3a UTSW 6 71,573,674 (GRCm39) missense probably benign 0.07
R9569:Kdm3a UTSW 6 71,584,434 (GRCm39) missense probably benign 0.02
R9727:Kdm3a UTSW 6 71,569,094 (GRCm39) nonsense probably null
RF053:Kdm3a UTSW 6 71,609,033 (GRCm39) critical splice donor site probably benign
Posted On 2015-04-16