Incidental Mutation 'R4058:Kdm8'
ID 314343
Institutional Source Beutler Lab
Gene Symbol Kdm8
Ensembl Gene ENSMUSG00000030752
Gene Name lysine (K)-specific demethylase 8
Synonyms Jmjd5, 3110005O21Rik
MMRRC Submission 040969-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4058 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 125043848-125061441 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 125055666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 65 (Y65N)
Ref Sequence ENSEMBL: ENSMUSP00000114890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033010] [ENSMUST00000135129]
AlphaFold Q9CXT6
Predicted Effect probably damaging
Transcript: ENSMUST00000033010
AA Change: Y241N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033010
Gene: ENSMUSG00000030752
AA Change: Y241N

DomainStartEndE-ValueType
low complexity region 22 39 N/A INTRINSIC
JmjC 269 414 2.71e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000135129
AA Change: Y65N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114890
Gene: ENSMUSG00000030752
AA Change: Y65N

DomainStartEndE-ValueType
Pfam:Cupin_8 13 152 1.4e-22 PFAM
Meta Mutation Damage Score 0.8741 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 88% (38/43)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik A G 16: 64,586,821 (GRCm39) V301A probably benign Het
Adam15 A G 3: 89,254,362 (GRCm39) V145A possibly damaging Het
Anxa4 C T 6: 86,734,800 (GRCm39) probably null Het
Aqp9 C A 9: 71,037,726 (GRCm39) V184L probably benign Het
Atp13a3 C A 16: 30,173,064 (GRCm39) C271F possibly damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cldn34c4 C A X: 126,629,060 (GRCm39) V137F probably benign Het
Cngb1 T C 8: 95,994,282 (GRCm39) E163G probably benign Het
Dync1i1 A G 6: 5,769,764 (GRCm39) D113G probably damaging Het
Etl4 T A 2: 20,810,830 (GRCm39) V971D possibly damaging Het
Gys1 A G 7: 45,097,810 (GRCm39) probably benign Het
H13 C G 2: 152,533,794 (GRCm39) P227R probably damaging Het
Ift22 C A 5: 136,940,717 (GRCm39) P84Q unknown Het
Igfn1 A G 1: 135,897,494 (GRCm39) V1024A probably benign Het
Lbp T A 2: 158,166,550 (GRCm39) V368E probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Megf6 T C 4: 154,326,989 (GRCm39) probably benign Het
Mettl13 G T 1: 162,373,755 (GRCm39) H165Q probably damaging Het
Mitd1 C T 1: 37,920,107 (GRCm39) S167N probably benign Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Nkx3-2 T A 5: 41,919,406 (GRCm39) E194V possibly damaging Het
Nup210 A T 6: 91,037,602 (GRCm39) V757D probably benign Het
Opcml A G 9: 28,812,884 (GRCm39) Y192C probably damaging Het
Or10ak7 T C 4: 118,791,880 (GRCm39) D53G probably damaging Het
Or5m8 T A 2: 85,822,576 (GRCm39) S138R possibly damaging Het
Pcdha2 A G 18: 37,072,935 (GRCm39) S189G probably benign Het
Pkd2l2 T C 18: 34,561,245 (GRCm39) F418L probably benign Het
Plekhg1 A G 10: 3,907,087 (GRCm39) D668G probably damaging Het
Prep G A 10: 45,034,467 (GRCm39) V660M probably benign Het
Qrfprl T A 6: 65,358,525 (GRCm39) I83N probably damaging Het
Rgs8 A G 1: 153,566,742 (GRCm39) T98A probably null Het
Rhbdd1 A G 1: 82,348,102 (GRCm39) N235D possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Sgo2b A T 8: 64,379,981 (GRCm39) D950E probably damaging Het
Slc1a5 T C 7: 16,529,778 (GRCm39) V399A probably damaging Het
Spag16 A T 1: 69,892,487 (GRCm39) Q89H probably damaging Het
Spta1 T C 1: 174,068,703 (GRCm39) W2168R probably damaging Het
Taok1 T A 11: 77,440,264 (GRCm39) K581M probably benign Het
Tns3 T C 11: 8,442,275 (GRCm39) D696G probably damaging Het
Tspan8 C T 10: 115,671,187 (GRCm39) R115* probably null Het
Txnrd1 A G 10: 82,721,114 (GRCm39) E510G probably benign Het
Usp45 T C 4: 21,810,746 (GRCm39) I314T probably damaging Het
Vmn2r15 T A 5: 109,441,312 (GRCm39) H182L probably damaging Het
Vmn2r76 A C 7: 85,879,508 (GRCm39) M264R probably benign 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
IGL03387:Kdm8 APN 7 125,054,278 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- ACAGCCTGGCCTTTCTATCG -3'
(R):5'- TCCTTTAAGAAAACAGTGCAGGTG -3'

Sequencing Primer
(F):5'- TCGAGAGAATGCTGTCAGGG -3'
(R):5'- ACATAGTCAAGCGCTGCTG -3'
Posted On 2015-04-30