Incidental Mutation 'R5683:Kdm8'
ID 443186
Institutional Source Beutler Lab
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 # R5683 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 125043848-125061441 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125054345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 16 (Y16C)
Ref Sequence ENSEMBL: ENSMUSP00000114890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033010] [ENSMUST00000135129]
AlphaFold Q9CXT6
Predicted Effect possibly damaging
Transcript: ENSMUST00000033010
AA Change: Y192C

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000033010
Gene: ENSMUSG00000030752
AA Change: Y192C

DomainStartEndE-ValueType
low complexity region 22 39 N/A INTRINSIC
JmjC 269 414 2.71e-13 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000135129
AA Change: Y16C

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114890
Gene: ENSMUSG00000030752
AA Change: Y16C

DomainStartEndE-ValueType
Pfam:Cupin_8 13 152 1.4e-22 PFAM
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.0%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A C 11: 72,093,266 (GRCm39) M22R probably benign Het
Acad11 A G 9: 103,961,482 (GRCm39) E397G probably damaging Het
Actrt3 A T 3: 30,652,427 (GRCm39) D222E probably benign Het
Akap11 A T 14: 78,750,018 (GRCm39) S790T probably damaging Het
Arhgap5 T A 12: 52,566,369 (GRCm39) D1113E probably benign Het
Arl2 C A 19: 6,184,794 (GRCm39) R153L probably benign Het
B3glct T A 5: 149,619,902 (GRCm39) M19K probably benign Het
Ccdc138 C A 10: 58,376,641 (GRCm39) Q425K probably damaging Het
Ccdc178 T A 18: 22,263,179 (GRCm39) K143N probably benign Het
Cd200r4 T A 16: 44,653,311 (GRCm39) I73K probably benign Het
Chaf1b A G 16: 93,684,030 (GRCm39) K94E possibly damaging Het
Cmtm2a T C 8: 105,019,676 (GRCm39) probably null Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Fnbp4 C A 2: 90,583,206 (GRCm39) N277K probably damaging Het
Htr7 C A 19: 35,947,271 (GRCm39) A248S probably damaging Het
Itsn1 T C 16: 91,702,268 (GRCm39) Y37H probably benign Het
Kif1b A T 4: 149,306,718 (GRCm39) Y881N probably damaging Het
Lhcgr C T 17: 89,079,447 (GRCm39) V80I probably benign Het
Lrriq1 T A 10: 103,009,236 (GRCm39) L1082F probably damaging Het
Met A G 6: 17,571,743 (GRCm39) Y1354C probably damaging Het
Nbea A G 3: 55,536,007 (GRCm39) L2859P possibly damaging Het
Ndufaf5 T A 2: 140,044,843 (GRCm39) M279K possibly damaging Het
Nlrp4e T C 7: 23,052,697 (GRCm39) I872T probably damaging Het
Npnt A T 3: 132,612,601 (GRCm39) probably null Het
Nsd1 G A 13: 55,393,961 (GRCm39) V521I probably benign Het
Or2n1e G A 17: 38,586,437 (GRCm39) M258I possibly damaging Het
Pak6 T A 2: 118,524,393 (GRCm39) Y469N probably damaging Het
Parp4 C T 14: 56,884,886 (GRCm39) R1322* probably null Het
Pax6 T C 2: 105,516,252 (GRCm39) Y177H probably benign Het
Pcdhb4 A T 18: 37,442,042 (GRCm39) T451S probably benign Het
Pcdhgb5 A T 18: 37,864,907 (GRCm39) D234V probably damaging Het
Pramel11 A G 4: 143,622,423 (GRCm39) S311P probably damaging Het
Ralb G A 1: 119,403,686 (GRCm39) A147V possibly damaging Het
Rgs11 A G 17: 26,424,155 (GRCm39) K196E probably benign Het
Rnft1 A T 11: 86,382,616 (GRCm39) T280S probably benign Het
Slco4c1 G T 1: 96,795,559 (GRCm39) H166Q probably damaging Het
Sycp3 T C 10: 88,308,797 (GRCm39) S248P probably damaging Het
Tab2 A G 10: 7,794,876 (GRCm39) probably null Het
Tgm6 T C 2: 129,980,875 (GRCm39) M224T probably damaging Het
Topbp1 A T 9: 103,190,003 (GRCm39) E193V possibly damaging Het
Trim36 T C 18: 46,302,359 (GRCm39) Y551C probably damaging Het
Ttc17 T C 2: 94,192,866 (GRCm39) Y628C probably damaging Het
Vmn1r180 A C 7: 23,652,635 (GRCm39) D266A possibly damaging Het
Vmn2r104 T A 17: 20,260,981 (GRCm39) K481* probably null Het
Zc3hav1 A G 6: 38,284,172 (GRCm39) V981A probably 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
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
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
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'- GCCCTCTGCTGTTAACACTG -3'
(R):5'- AAATATTATTCCATGGACAGGGTGG -3'

Sequencing Primer
(F):5'- TGCTGTTAACACTGCCCAGAC -3'
(R):5'- CAGAAGACAGCTCTGTGGTTCTC -3'
Posted On 2016-11-09