Incidental Mutation 'R6490:Jmjd8'
ID 522824
Institutional Source Beutler Lab
Gene Symbol Jmjd8
Ensembl Gene ENSMUSG00000025736
Gene Name jumonji domain containing 8
Synonyms 2610003J06Rik
MMRRC Submission 044622-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6490 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 26048017-26050817 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26048086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 16 (V16E)
Ref Sequence ENSEMBL: ENSMUSP00000026832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026832] [ENSMUST00000026833] [ENSMUST00000044911] [ENSMUST00000123582] [ENSMUST00000133595]
AlphaFold Q3TA59
Predicted Effect probably benign
Transcript: ENSMUST00000026832
AA Change: V16E

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000026832
Gene: ENSMUSG00000025736
AA Change: V16E

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
JmjC 140 271 5.27e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000026833
SMART Domains Protein: ENSMUSP00000026833
Gene: ENSMUSG00000025737

DomainStartEndE-ValueType
Blast:WD40 19 53 6e-8 BLAST
WD40 68 103 2.13e1 SMART
WD40 109 149 5.77e-5 SMART
WD40 152 192 4.48e-2 SMART
WD40 196 236 1.48e-11 SMART
WD40 244 282 1.66e0 SMART
WD40 286 327 2.48e0 SMART
low complexity region 605 623 N/A INTRINSIC
Blast:RING 743 780 2e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000044911
SMART Domains Protein: ENSMUSP00000040431
Gene: ENSMUSG00000039615

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
TPR 27 60 2.43e1 SMART
TPR 61 94 1.48e-7 SMART
TPR 95 128 4.52e-3 SMART
low complexity region 168 180 N/A INTRINSIC
Ubox 231 294 1.27e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123560
Predicted Effect probably benign
Transcript: ENSMUST00000123582
SMART Domains Protein: ENSMUSP00000119840
Gene: ENSMUSG00000025736

DomainStartEndE-ValueType
low complexity region 158 172 N/A INTRINSIC
low complexity region 194 208 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123692
Predicted Effect probably benign
Transcript: ENSMUST00000133595
AA Change: V61E

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000122744
Gene: ENSMUSG00000025736
AA Change: V61E

DomainStartEndE-ValueType
transmembrane domain 55 74 N/A INTRINSIC
JmjC 185 316 5.27e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000152434
AA Change: V14E
SMART Domains Protein: ENSMUSP00000119378
Gene: ENSMUSG00000025736
AA Change: V14E

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160829
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160349
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 99% (69/70)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced capillaries in muscle tissue and reduced glycolysis in isolated cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik T G 8: 122,267,293 (GRCm39) K38T probably benign Het
Abca13 A G 11: 9,248,661 (GRCm39) T2803A probably benign Het
Adam23 A G 1: 63,596,613 (GRCm39) D565G probably damaging Het
Adcy3 A G 12: 4,262,150 (GRCm39) T1067A probably damaging Het
Agrn A T 4: 156,251,819 (GRCm39) Y1921* probably null Het
Apc2 A G 10: 80,149,757 (GRCm39) N1604D probably benign Het
Atxn7 A T 14: 14,089,446 (GRCm38) R321* probably null Het
Axin1 T A 17: 26,361,968 (GRCm39) I104N probably damaging Het
Bahd1 T C 2: 118,747,619 (GRCm39) S413P probably benign Het
Baz2b C T 2: 59,732,073 (GRCm39) C2024Y probably damaging Het
Cacna1i T A 15: 80,262,448 (GRCm39) V1388E probably damaging Het
Ces4a G A 8: 105,876,090 (GRCm39) V544M probably benign Het
Cntn3 G A 6: 102,255,301 (GRCm39) T199I probably damaging Het
Col6a4 A T 9: 105,952,191 (GRCm39) L569* probably null Het
Ctnna2 A G 6: 77,120,892 (GRCm39) I12T probably benign Het
Dhx37 A G 5: 125,496,196 (GRCm39) M754T probably benign Het
Dmrt1 T A 19: 25,523,395 (GRCm39) S249T possibly damaging Het
Ell G T 8: 71,025,553 (GRCm39) S59I probably damaging Het
Fam89a G A 8: 125,467,982 (GRCm39) S110F probably damaging Het
Fer1l4 A C 2: 155,889,834 (GRCm39) F278V possibly damaging Het
Fyn T C 10: 39,427,398 (GRCm39) I427T probably damaging Het
Galnt14 T C 17: 73,832,365 (GRCm39) D250G probably damaging Het
Glp1r T C 17: 31,143,546 (GRCm39) V194A probably damaging Het
Glt1d1 T A 5: 127,721,360 (GRCm39) probably null Het
Gm7995 A G 14: 42,133,327 (GRCm39) K69R probably benign Het
Grip1 A G 10: 119,822,329 (GRCm39) T379A possibly damaging Het
Gtpbp2 G T 17: 46,479,147 (GRCm39) A570S probably benign Het
Hmcn1 T C 1: 150,459,029 (GRCm39) I5192V probably benign Het
Igfl3 A T 7: 17,913,844 (GRCm39) I65F possibly damaging Het
Igsf10 G T 3: 59,236,992 (GRCm39) T1063K probably benign Het
Itfg1 A G 8: 86,466,930 (GRCm39) V381A probably benign Het
Itprid1 A G 6: 55,953,405 (GRCm39) D907G probably damaging Het
Kank1 A G 19: 25,387,449 (GRCm39) Y374C probably damaging Het
Kcnma1 C T 14: 23,386,165 (GRCm39) V891I possibly damaging Het
Kif20a C A 18: 34,762,543 (GRCm39) T472K possibly damaging Het
Klhl32 A T 4: 24,711,578 (GRCm39) probably benign Het
Lrrc37a A G 11: 103,347,486 (GRCm39) S3070P unknown Het
Mettl21e T G 1: 44,249,425 (GRCm39) Y77S probably damaging Het
Mlst8 G T 17: 24,696,935 (GRCm39) D82E probably benign Het
Mrgprx2 A T 7: 48,132,617 (GRCm39) L67Q probably damaging Het
Mylk T A 16: 34,750,237 (GRCm39) L1192Q possibly damaging Het
Myt1l A T 12: 29,882,365 (GRCm39) Y520F unknown Het
Naip2 A T 13: 100,297,193 (GRCm39) W948R probably benign Het
Nlrp9a A C 7: 26,250,311 (GRCm39) K25N probably damaging Het
Nsd3 T C 8: 26,204,212 (GRCm39) C414R probably damaging Het
Oit3 A T 10: 59,274,374 (GRCm39) V142D possibly damaging Het
Or2aj6 C T 16: 19,443,194 (GRCm39) V219M probably benign Het
P2ry6 T C 7: 100,587,580 (GRCm39) T260A probably damaging Het
Papola A G 12: 105,771,196 (GRCm39) Q87R probably benign Het
Pla2g4a T A 1: 149,727,086 (GRCm39) R557* probably null Het
Rgs13 G T 1: 144,016,576 (GRCm39) H56N probably damaging Het
Sbf1 T C 15: 89,189,111 (GRCm39) S537G probably benign Het
Sntg1 A C 1: 8,653,508 (GRCm39) L243R possibly damaging Het
Spata31h1 A T 10: 82,125,138 (GRCm39) L2624Q possibly damaging Het
Stam2 T C 2: 52,610,954 (GRCm39) T23A probably benign Het
Tbl1xr1 C A 3: 22,258,141 (GRCm39) H467Q probably damaging Het
Tmem131l A G 3: 83,820,587 (GRCm39) S1222P possibly damaging Het
Tmem43 G T 6: 91,455,759 (GRCm39) Q123H probably damaging Het
Tmem43 T A 6: 91,463,862 (GRCm39) I379N possibly damaging Het
Trim43c A T 9: 88,727,003 (GRCm39) I277F possibly damaging Het
Ttn A G 2: 76,703,211 (GRCm39) probably benign Het
Vmn1r75 T A 7: 11,615,003 (GRCm39) V245D probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vps53 A T 11: 75,967,881 (GRCm39) M414K probably benign Het
Wrn T G 8: 33,809,248 (GRCm39) L249F probably benign Het
Zc3h13 TGATGTCCGGGATGTCCGGGATGTCCGGGATGTCCGGGATGT TGATGTCCGGGATGTCCGGGATGTCCGGGATGT 14: 75,560,998 (GRCm39) probably benign Het
Zfp454 T C 11: 50,764,950 (GRCm39) N161D probably benign Het
Zfp619 G A 7: 39,183,586 (GRCm39) G60R probably benign Het
Zfp623 T A 15: 75,820,308 (GRCm39) H421Q probably damaging Het
Zfp827 A G 8: 79,916,606 (GRCm39) probably benign Het
Other mutations in Jmjd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Jmjd8 APN 17 26,048,145 (GRCm39) splice site probably benign
IGL01813:Jmjd8 APN 17 26,048,212 (GRCm39) critical splice acceptor site probably null
IGL02858:Jmjd8 APN 17 26,049,134 (GRCm39) missense probably damaging 1.00
IGL03326:Jmjd8 APN 17 26,048,139 (GRCm39) critical splice donor site probably null
R0045:Jmjd8 UTSW 17 26,048,255 (GRCm39) missense probably damaging 1.00
R1491:Jmjd8 UTSW 17 26,048,266 (GRCm39) missense possibly damaging 0.66
R4276:Jmjd8 UTSW 17 26,048,787 (GRCm39) unclassified probably benign
R4277:Jmjd8 UTSW 17 26,048,787 (GRCm39) unclassified probably benign
R4279:Jmjd8 UTSW 17 26,048,787 (GRCm39) unclassified probably benign
R4534:Jmjd8 UTSW 17 26,047,984 (GRCm39) splice site probably null
R6904:Jmjd8 UTSW 17 26,048,026 (GRCm39) missense possibly damaging 0.90
R7305:Jmjd8 UTSW 17 26,049,301 (GRCm39) missense probably benign 0.13
R7935:Jmjd8 UTSW 17 26,048,071 (GRCm39) missense probably benign 0.36
R8015:Jmjd8 UTSW 17 26,048,302 (GRCm39) missense probably damaging 0.99
R9369:Jmjd8 UTSW 17 26,048,686 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CAATGCGCTTGTATGAAGAAGG -3'
(R):5'- TGCATGAATTCGGAGTACGTG -3'

Sequencing Primer
(F):5'- CTTGTATGAAGAAGGAGGAGACTTCC -3'
(R):5'- AGTACGTGATGTGTGCCCGAC -3'
Posted On 2018-06-06