Incidental Mutation 'IGL03387:Kdm8'
ID 420912
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdm8
Ensembl Gene ENSMUSG00000030752
Gene Name lysine (K)-specific demethylase 8
Synonyms Jmjd5, 3110005O21Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03387
Quality Score
Status
Chromosome 7
Chromosomal Location 125043848-125061441 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 125054278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 170 (A170T)
Ref Sequence ENSEMBL: ENSMUSP00000033010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033010] [ENSMUST00000135129]
AlphaFold Q9CXT6
Predicted Effect probably benign
Transcript: ENSMUST00000033010
AA Change: A170T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000033010
Gene: ENSMUSG00000030752
AA Change: A170T

DomainStartEndE-ValueType
low complexity region 22 39 N/A INTRINSIC
JmjC 269 414 2.71e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135129
SMART Domains Protein: ENSMUSP00000114890
Gene: ENSMUSG00000030752

DomainStartEndE-ValueType
Pfam:Cupin_8 13 152 1.4e-22 PFAM
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 likely encodes a histone lysine demethylase. Studies of a similar protein in mouse indicate a potential role for this protein as a tumor suppressor. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygous inactivation of this gene leads to complete embryonic lethality during organogenesis associated with severe growth retardation and abnormal embryo turning. Observed phenotypes include open neural tubes and absent vitelline blood vessels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A C 13: 68,878,486 (GRCm39) I384S probably damaging Het
Atxn7 T C 14: 14,087,273 (GRCm38) probably benign Het
Blm A T 7: 80,143,895 (GRCm39) V848D probably damaging Het
Cul1 G T 6: 47,478,143 (GRCm39) L175F probably damaging Het
Cyp4a29 A G 4: 115,108,368 (GRCm39) H364R possibly damaging Het
Ddx60 A G 8: 62,465,483 (GRCm39) D1380G probably damaging Het
Det1 A T 7: 78,493,372 (GRCm39) C211S possibly damaging Het
Dnaaf9 A G 2: 130,559,200 (GRCm39) Y822H probably damaging Het
F5 A C 1: 164,020,801 (GRCm39) Q1092P probably damaging Het
Fam117b A C 1: 59,992,119 (GRCm39) Y256S probably benign Het
Fbxl13 A G 5: 21,728,796 (GRCm39) probably null Het
Galnt7 A G 8: 57,979,212 (GRCm39) I637T probably benign Het
H2-T24 T A 17: 36,317,671 (GRCm39) K120N unknown Het
Hes2 A G 4: 152,244,269 (GRCm39) K18R probably damaging Het
Icam5 A T 9: 20,945,097 (GRCm39) Q220L probably benign Het
Krt40 G A 11: 99,430,711 (GRCm39) A321V probably damaging Het
Mapkbp1 T A 2: 119,828,979 (GRCm39) V45D probably damaging Het
Mbip A G 12: 56,382,597 (GRCm39) Y290H probably damaging Het
Mical1 A G 10: 41,354,195 (GRCm39) Y48C probably damaging Het
Mslnl T C 17: 25,963,051 (GRCm39) S300P probably benign Het
Nanog T C 6: 122,688,731 (GRCm39) L104P probably damaging Het
Or10ak11 T C 4: 118,687,238 (GRCm39) Y132C probably damaging Het
Or4c113 A T 2: 88,885,457 (GRCm39) H104Q probably damaging Het
Or4f60 T A 2: 111,902,007 (GRCm39) Y307F probably benign Het
Or52n2c A T 7: 104,574,580 (GRCm39) N130K probably benign Het
Oxgr1 C A 14: 120,260,199 (GRCm39) E3* probably null Het
Pam16 A T 16: 4,434,671 (GRCm39) probably benign Het
Plcb1 A T 2: 134,655,606 (GRCm39) probably benign Het
Slc25a32 A T 15: 38,969,359 (GRCm39) V58E probably benign Het
Slc2a12 G T 10: 22,541,134 (GRCm39) V330F probably damaging Het
Slit1 T C 19: 41,591,881 (GRCm39) E1247G possibly damaging Het
Supt5 A T 7: 28,019,508 (GRCm39) C519S possibly damaging Het
Szt2 A G 4: 118,221,922 (GRCm39) probably benign Het
Tas2r118 A G 6: 23,969,180 (GRCm39) W294R possibly damaging Het
Tex21 A T 12: 76,245,694 (GRCm39) M534K probably damaging Het
Tmem132c T C 5: 127,640,784 (GRCm39) I985T probably benign Het
Tmem87b T C 2: 128,665,019 (GRCm39) V61A probably benign Het
Trhr2 G A 8: 123,085,220 (GRCm39) probably benign Het
Ttc28 A G 5: 111,381,208 (GRCm39) D1209G probably benign Het
Uchl5 A G 1: 143,677,940 (GRCm39) E148G probably benign Het
Wdr62 T C 7: 29,970,199 (GRCm39) I203V possibly damaging Het
Wnk1 T C 6: 119,931,148 (GRCm39) I799V possibly damaging Het
Other mutations in Kdm8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Kdm8 APN 7 125,060,377 (GRCm39) missense probably damaging 1.00
IGL01975:Kdm8 APN 7 125,051,529 (GRCm39) missense probably benign 0.04
IGL02019:Kdm8 APN 7 125,051,658 (GRCm39) missense probably damaging 0.98
R0321:Kdm8 UTSW 7 125,060,178 (GRCm39) missense probably damaging 1.00
R0479:Kdm8 UTSW 7 125,051,812 (GRCm39) missense probably damaging 1.00
R1995:Kdm8 UTSW 7 125,051,511 (GRCm39) missense probably benign 0.00
R4058:Kdm8 UTSW 7 125,055,666 (GRCm39) missense probably damaging 1.00
R4760:Kdm8 UTSW 7 125,054,431 (GRCm39) critical splice donor site probably null
R5683:Kdm8 UTSW 7 125,054,345 (GRCm39) missense possibly damaging 0.93
R6876:Kdm8 UTSW 7 125,051,830 (GRCm39) missense probably benign 0.00
R7189:Kdm8 UTSW 7 125,060,103 (GRCm39) missense probably damaging 1.00
R9154:Kdm8 UTSW 7 125,054,296 (GRCm39) missense probably benign
Posted On 2016-08-02