Incidental Mutation 'IGL02219:Kdm3a'
ID285041
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 #IGL02219
Quality Score
Status
Chromosome6
Chromosomal Location71588972-71632990 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 71600734 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 694 (N694S)
Ref Sequence ENSEMBL: ENSMUSP00000145719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065509] [ENSMUST00000167220] [ENSMUST00000205289] [ENSMUST00000207023]
Predicted Effect probably benign
Transcript: ENSMUST00000065509
AA Change: N694S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000065716
Gene: ENSMUSG00000053470
AA Change: N694S

DomainStartEndE-ValueType
low complexity region 853 859 N/A INTRINSIC
JmjC 1060 1283 1.6e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167220
AA Change: N694S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128789
Gene: ENSMUSG00000053470
AA Change: N694S

DomainStartEndE-ValueType
low complexity region 853 859 N/A INTRINSIC
JmjC 1060 1283 1.6e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205289
AA Change: N694S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206798
Predicted Effect probably benign
Transcript: ENSMUST00000206916
Predicted Effect probably benign
Transcript: ENSMUST00000207023
AA Change: N694S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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
9530053A07Rik T C 7: 28,154,635 Y1675H probably damaging Het
A730013G03Rik A T 1: 192,833,383 noncoding transcript Het
Abcb10 G A 8: 123,954,427 H677Y probably benign Het
Ager T C 17: 34,600,120 V314A probably damaging Het
Asxl3 A G 18: 22,453,626 M158V possibly damaging Het
Atp1a2 A T 1: 172,279,718 M745K probably damaging Het
Atp1a2 G A 1: 172,279,731 Q741* probably null Het
Begain A G 12: 109,033,730 S577P probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Camk2b A G 11: 5,976,872 L497P possibly damaging Het
Cand2 T A 6: 115,803,812 I1219N probably damaging Het
Cckbr T A 7: 105,434,048 Y153N probably damaging Het
Cep250 T G 2: 155,991,594 V1812G probably benign Het
Cyp2c39 A T 19: 39,568,199 probably benign Het
Ddx43 T A 9: 78,416,719 M444K probably damaging Het
Dnm1 A T 2: 32,323,450 M506K probably benign Het
Duox2 A T 2: 122,294,664 H352Q probably benign Het
Fsip2 A G 2: 82,977,830 T1498A probably benign Het
Gcn1l1 A T 5: 115,613,767 Q2067L possibly damaging Het
Get4 G T 5: 139,263,629 probably null Het
Gm6370 G A 5: 146,493,643 A213T possibly damaging Het
Gpr135 T C 12: 72,070,273 Y240C probably damaging Het
Gstm5 T A 3: 107,898,031 L145Q probably damaging Het
Hoxb3 T C 11: 96,346,160 Y355H probably damaging Het
Hsf2 A C 10: 57,496,274 K108Q probably damaging Het
Lrpap1 G A 5: 35,096,067 probably benign Het
Mapk8ip3 T C 17: 24,899,558 T1162A probably damaging Het
Mettl14 T C 3: 123,374,891 probably benign Het
Mrgprx1 T C 7: 48,021,729 Y90C probably benign Het
Mybpc3 A T 2: 91,121,023 probably null Het
Nup88 C T 11: 70,969,692 G87D probably benign Het
Olfr1153 A G 2: 87,896,973 Y258C possibly damaging Het
Olfr1502 C T 19: 13,861,823 T10M probably damaging Het
Olfr39 A T 9: 20,286,460 T254S probably benign Het
Pan2 G A 10: 128,320,352 E1133K probably benign Het
Pcsk2 T C 2: 143,793,125 S307P probably damaging Het
Pdgfa C T 5: 138,986,195 V150I probably damaging Het
Phf12 T C 11: 77,984,196 C83R probably damaging Het
Pla2g2c A G 4: 138,736,008 Y71C probably damaging Het
Pou2f2 T A 7: 25,097,682 Q218L probably damaging Het
Prl8a9 C T 13: 27,559,370 V151I possibly damaging Het
Prop1 T C 11: 50,952,084 D92G probably damaging Het
Rnf13 A G 3: 57,796,223 Y116C probably damaging Het
Scrib T A 15: 76,065,036 K383* probably null Het
Slc44a5 T C 3: 154,239,159 Y138H possibly damaging Het
Stra6 G A 9: 58,140,469 V108M probably benign Het
Trove2 A G 1: 143,761,275 C400R possibly damaging Het
Tspan10 G T 11: 120,446,372 A323S probably benign Het
Ttc22 T A 4: 106,638,490 V347D probably damaging Het
Ugt1a10 C T 1: 88,056,058 L193F probably benign Het
Vps13d G T 4: 145,168,146 H457N probably benign Het
Vrtn A G 12: 84,648,833 Y119C probably damaging Het
Xpnpep3 T C 15: 81,427,456 F121S probably damaging Het
Other mutations in Kdm3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02168:Kdm3a APN 6 71600117 missense probably damaging 1.00
IGL02423:Kdm3a APN 6 71614003 splice site probably benign
IGL02427:Kdm3a APN 6 71592200 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