Incidental Mutation 'IGL02168:Kdm3a'
ID282790
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 #IGL02168
Quality Score
Status
Chromosome6
Chromosomal Location71588972-71632990 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 71600117 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 738 (V738A)
Ref Sequence ENSEMBL: ENSMUSP00000145959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065509] [ENSMUST00000167220] [ENSMUST00000205289] [ENSMUST00000207023]
Predicted Effect probably damaging
Transcript: ENSMUST00000065509
AA Change: V738A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000065716
Gene: ENSMUSG00000053470
AA Change: V738A

DomainStartEndE-ValueType
low complexity region 853 859 N/A INTRINSIC
JmjC 1060 1283 1.6e-56 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167220
AA Change: V738A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128789
Gene: ENSMUSG00000053470
AA Change: V738A

DomainStartEndE-ValueType
low complexity region 853 859 N/A INTRINSIC
JmjC 1060 1283 1.6e-56 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000205289
AA Change: V738A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
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 damaging
Transcript: ENSMUST00000207023
AA Change: V738A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010007H06Rik T C 9: 51,280,501 probably benign Het
6030468B19Rik T A 11: 117,798,418 probably benign Het
Ankra2 G A 13: 98,273,374 probably benign Het
Astn1 C A 1: 158,609,341 A823E possibly damaging Het
Cd163l1 A T 7: 140,223,486 H321L probably benign Het
Cfap43 T C 19: 47,751,923 probably benign Het
Clec4b2 T A 6: 123,204,197 N180K probably damaging Het
Col7a1 A G 9: 108,984,075 probably benign Het
Dhrs7c T C 11: 67,815,867 F284L probably benign Het
Dock1 T C 7: 135,077,131 probably benign Het
Entpd5 A T 12: 84,386,978 probably null Het
Heatr5b A T 17: 78,831,591 probably benign Het
Klf10 A T 15: 38,296,841 F318L probably damaging Het
Mcc A C 18: 44,449,299 I770S probably damaging Het
Muc19 C T 15: 91,894,098 noncoding transcript Het
Olfr460 A T 6: 40,571,383 probably benign Het
Pcdh17 A G 14: 84,533,195 T1038A probably benign Het
Pole2 A G 12: 69,201,886 probably benign Het
Polr2c A G 8: 94,857,766 R36G probably damaging Het
Ptgs2 A G 1: 150,103,679 probably null Het
Taf5 A G 19: 47,082,478 D747G probably damaging Het
Tll1 T G 8: 64,053,967 K580T possibly damaging Het
Tmc3 A T 7: 83,619,995 N768I possibly damaging Het
Top1 G T 2: 160,704,973 probably null Het
Ubtf T C 11: 102,314,168 K97E probably damaging Het
Vcl T C 14: 21,007,287 V509A probably benign Het
Vmn2r110 A T 17: 20,583,800 probably benign Het
Zfp106 A G 2: 120,534,231 V565A possibly damaging Het
Zfp458 A T 13: 67,258,034 C111S probably damaging Het
Other mutations in Kdm3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02219:Kdm3a APN 6 71600734 missense probably benign 0.01
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