Incidental Mutation 'R6876:Kdm8'
ID 536415
Institutional Source Beutler Lab
Gene Symbol Kdm8
Ensembl Gene ENSMUSG00000030752
Gene Name lysine (K)-specific demethylase 8
Synonyms Jmjd5, 3110005O21Rik
MMRRC Submission 044972-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6876 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 125043848-125061441 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125051830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 141 (V141A)
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: V141A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000033010
Gene: ENSMUSG00000030752
AA Change: V141A

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: 99.4%
  • 20x: 98.0%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 77,044,288 (GRCm39) T201A probably damaging Het
Abca12 T A 1: 71,302,667 (GRCm39) D2184V probably damaging Het
Abcf1 C T 17: 36,270,136 (GRCm39) D641N probably benign Het
Adgrv1 C A 13: 81,303,273 (GRCm39) probably null Het
Aftph T C 11: 20,659,744 (GRCm39) E693G probably damaging Het
Ahnak A G 19: 8,991,484 (GRCm39) D4256G probably damaging Het
Arv1 A G 8: 125,457,651 (GRCm39) K185R probably damaging Het
Ces4a T A 8: 105,871,624 (GRCm39) V258D possibly damaging Het
Col6a5 T C 9: 105,814,506 (GRCm39) D502G unknown Het
Diaph1 A T 18: 38,029,426 (GRCm39) H335Q unknown Het
Dtna G A 18: 23,744,167 (GRCm39) V404I probably benign Het
Ephb1 T C 9: 101,861,319 (GRCm39) D615G probably damaging Het
Gimap3 A T 6: 48,742,855 (GRCm39) I25N probably damaging Het
Hao1 A G 2: 134,343,069 (GRCm39) V274A probably benign Het
Hirip3 T C 7: 126,463,321 (GRCm39) S426P probably damaging Het
Igkv4-69 T C 6: 69,260,818 (GRCm39) D103G probably damaging Het
Mink1 G T 11: 70,498,261 (GRCm39) A553S probably benign Het
Mpl T A 4: 118,314,317 (GRCm39) Y60F probably damaging Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myo5a C A 9: 75,067,772 (GRCm39) R609S probably benign Het
Myo5b A T 18: 74,841,026 (GRCm39) H969L probably benign Het
Or1n2 T A 2: 36,797,834 (GRCm39) I292N probably damaging Het
Or2h2c G C 17: 37,422,098 (GRCm39) Q259E probably damaging Het
Or2y16 T C 11: 49,335,068 (GRCm39) L130P probably damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Prodh2 T A 7: 30,205,925 (GRCm39) W207R probably damaging Het
Qng1 T C 13: 58,532,910 (GRCm39) D20G probably damaging Het
Rfx6 A G 10: 51,596,087 (GRCm39) K457E probably damaging Het
Sim1 A G 10: 50,859,791 (GRCm39) E551G possibly damaging Het
Soat2 T C 15: 102,069,049 (GRCm39) F358S probably damaging Het
Tes3-ps A G 13: 49,647,195 (GRCm39) K24E probably benign Het
Txndc16 A G 14: 45,400,497 (GRCm39) F335L possibly damaging Het
Unc45b T C 11: 82,813,738 (GRCm39) Y382H probably benign Het
Vmn2r60 A G 7: 41,785,087 (GRCm39) T100A probably null Het
Vmn2r93 T A 17: 18,525,450 (GRCm39) H369Q probably benign Het
Yy1 A G 12: 108,772,518 (GRCm39) I265V probably benign Het
Zfp54 A T 17: 21,654,239 (GRCm39) K244N 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
R5683:Kdm8 UTSW 7 125,054,345 (GRCm39) missense possibly damaging 0.93
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'- TCCTAGACTACTCCTGGGAAAAG -3'
(R):5'- GCTCTTTTCACCAGAGAGGC -3'

Sequencing Primer
(F):5'- CTGGTCCCTGGAGAGATGTAGAC -3'
(R):5'- TTTTCACCAGAGAGGCTGCCTG -3'
Posted On 2018-10-18