Incidental Mutation 'R7189:Kdm8'
ID 559496
Institutional Source Beutler Lab
Gene Symbol Kdm8
Ensembl Gene ENSMUSG00000030752
Gene Name lysine (K)-specific demethylase 8
Synonyms Jmjd5, 3110005O21Rik
MMRRC Submission 045238-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7189 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 125043848-125061441 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125060103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 335 (Y335F)
Ref Sequence ENSEMBL: ENSMUSP00000033010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033010] [ENSMUST00000135129]
AlphaFold Q9CXT6
Predicted Effect probably damaging
Transcript: ENSMUST00000033010
AA Change: Y335F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000033010
Gene: ENSMUSG00000030752
AA Change: Y335F

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 95% (57/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 G T 2: 103,397,861 (GRCm39) A264S probably benign Het
Atosa T C 9: 74,911,633 (GRCm39) C42R probably damaging Het
Atr G T 9: 95,744,844 (GRCm39) E54* probably null Het
Bmp4 A G 14: 46,621,456 (GRCm39) S363P probably damaging Het
Cfap54 C A 10: 92,773,590 (GRCm39) A2077S unknown Het
Chrna7 T C 7: 62,755,775 (GRCm39) D257G probably damaging Het
Chrnd C T 1: 87,118,780 (GRCm39) R46W probably damaging Het
Cntn2 A G 1: 132,444,824 (GRCm39) I851T probably damaging Het
Col3a1 T A 1: 45,372,817 (GRCm39) I534K unknown Het
Cyp3a25 A T 5: 145,939,870 (GRCm39) L46I probably benign Het
Dnah7b G C 1: 46,281,302 (GRCm39) G2788R probably damaging Het
Dnpep T C 1: 75,290,074 (GRCm39) E301G probably damaging Het
Efcab3 T C 11: 104,986,690 (GRCm39) S30P probably benign Het
Elk4 A G 1: 131,947,127 (GRCm39) I373V probably damaging Het
Fam161b T C 12: 84,395,420 (GRCm39) S508G probably damaging Het
Fgf10 A G 13: 118,925,659 (GRCm39) E146G probably benign Het
Fsip2 A G 2: 82,823,581 (GRCm39) D6438G possibly damaging Het
Garin2 C T 12: 78,758,982 (GRCm39) P101S probably benign Het
Gask1b T A 3: 79,794,114 (GRCm39) L194* probably null Het
Gm49355 T A 14: 12,296,672 (GRCm38) C10* probably null Het
Hfm1 A G 5: 107,049,569 (GRCm39) probably null Het
Hivep3 T C 4: 119,989,416 (GRCm39) S1956P probably damaging Het
Hrh2 A G 13: 54,375,270 (GRCm39) S369G unknown Het
Hspg2 T C 4: 137,260,872 (GRCm39) probably null Het
Hsph1 T C 5: 149,553,925 (GRCm39) Y181C probably damaging Het
Kcnh8 A G 17: 53,201,145 (GRCm39) probably null Het
Kctd1 C T 18: 15,195,700 (GRCm39) E308K possibly damaging Het
Kif2b C G 11: 91,467,963 (GRCm39) G107R probably benign Het
Lama4 G A 10: 38,841,729 (GRCm39) probably benign Het
Lepr T C 4: 101,671,961 (GRCm39) V995A probably benign Het
Mfsd4a A T 1: 131,980,131 (GRCm39) V375E probably damaging Het
Mgl2 G T 11: 70,027,869 (GRCm39) W359L probably damaging Het
Muc5b C A 7: 141,414,798 (GRCm39) Y2581* probably null Het
Nol10 G T 12: 17,423,562 (GRCm39) probably null Het
Or4k47 T A 2: 111,451,538 (GRCm39) M294L probably benign Het
Or52n3 A T 7: 104,530,348 (GRCm39) K145* probably null Het
Otud3 C T 4: 138,636,865 (GRCm39) V99M probably damaging Het
Parvb T C 15: 84,187,672 (GRCm39) probably null Het
Pclo C A 5: 14,571,932 (GRCm39) P439Q possibly damaging Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm39) probably benign Het
Pkn1 A T 8: 84,419,302 (GRCm39) H100Q possibly damaging Het
Plce1 A T 19: 38,748,581 (GRCm39) I1771F probably damaging Het
Plxna2 G T 1: 194,483,366 (GRCm39) R1559L possibly damaging Het
Ppp2r3d T A 9: 101,003,621 (GRCm39) I416L possibly damaging Het
Pramel42 T A 5: 94,685,610 (GRCm39) Y423* probably null Het
Robo1 C A 16: 72,757,039 (GRCm39) C333* probably null Het
Ryr2 A T 13: 11,898,009 (GRCm39) Y129N probably damaging Het
Schip1 A T 3: 68,525,032 (GRCm39) K359M probably damaging Het
Schip1 G T 3: 68,525,033 (GRCm39) K359N probably damaging Het
Sh2d2a T A 3: 87,755,668 (GRCm39) S65T possibly damaging Het
Ssrp1 G A 2: 84,875,906 (GRCm39) M588I probably benign Het
Stim2 T A 5: 54,273,470 (GRCm39) C567S probably benign Het
Syne1 C A 10: 5,374,295 (GRCm39) A171S probably benign Het
Tigd3 A G 19: 5,943,050 (GRCm39) S27P probably benign Het
Vipr1 C A 9: 121,493,620 (GRCm39) Q224K probably damaging Het
Vmn1r75 T A 7: 11,614,475 (GRCm39) M69K possibly damaging Het
Vmn2r72 T G 7: 85,404,125 (GRCm39) D22A probably benign Het
Zbtb24 G A 10: 41,340,472 (GRCm39) V523I probably benign Het
Zbtb43 A G 2: 33,352,307 (GRCm39) F20S 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
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
R9154:Kdm8 UTSW 7 125,054,296 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGGTCAACACTCAATGCTGGC -3'
(R):5'- GGTTTTCCACATCAACCTGCAG -3'

Sequencing Primer
(F):5'- TGGCCTGAGCTTAGCTACACATAG -3'
(R):5'- TTTTCCACATCAACCTGCAGAAAGC -3'
Posted On 2019-06-26