Incidental Mutation 'IGL02858:Jmjd8'
ID 362042
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jmjd8
Ensembl Gene ENSMUSG00000025736
Gene Name jumonji domain containing 8
Synonyms 2610003J06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02858
Quality Score
Status
Chromosome 17
Chromosomal Location 26048017-26050817 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26049134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 230 (F230S)
Ref Sequence ENSEMBL: ENSMUSP00000122744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026831] [ENSMUST00000026832] [ENSMUST00000026833] [ENSMUST00000044911] [ENSMUST00000123582] [ENSMUST00000133595] [ENSMUST00000183929]
AlphaFold Q3TA59
Predicted Effect probably benign
Transcript: ENSMUST00000026831
SMART Domains Protein: ENSMUSP00000026831
Gene: ENSMUSG00000025735

DomainStartEndE-ValueType
SCOP:d2mysb_ 13 74 5e-7 SMART
Blast:EFh 43 71 9e-11 BLAST
transmembrane domain 129 151 N/A INTRINSIC
Pfam:Rhomboid 174 331 6.7e-36 PFAM
transmembrane domain 339 361 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000026832
AA Change: F185S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026832
Gene: ENSMUSG00000025736
AA Change: F185S

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 unknown
Transcript: ENSMUST00000123582
AA Change: S176P
SMART Domains Protein: ENSMUSP00000119840
Gene: ENSMUSG00000025736
AA Change: S176P

DomainStartEndE-ValueType
low complexity region 158 172 N/A INTRINSIC
low complexity region 194 208 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000133595
AA Change: F230S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122744
Gene: ENSMUSG00000025736
AA Change: F230S

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

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160829
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160349
Predicted Effect probably benign
Transcript: ENSMUST00000183929
SMART Domains Protein: ENSMUSP00000139046
Gene: ENSMUSG00000025735

DomainStartEndE-ValueType
SCOP:d2mysb_ 13 74 9e-6 SMART
Blast:EFh 43 70 2e-9 BLAST
transmembrane domain 136 155 N/A INTRINSIC
Pfam:Rhomboid 178 327 1e-27 PFAM
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176751
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A G 1: 179,596,599 (GRCm39) V126A probably damaging Het
Akap9 T C 5: 4,119,130 (GRCm39) Y3546H possibly damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arhgap45 C A 10: 79,853,768 (GRCm39) T94N probably benign Het
Arid1b T C 17: 5,392,166 (GRCm39) S1899P possibly damaging Het
Atad5 T A 11: 79,980,601 (GRCm39) V2E probably damaging Het
Calr A T 8: 85,571,528 (GRCm39) V155E probably benign Het
Cckbr C T 7: 105,083,238 (GRCm39) A147V probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cetn1 T C 18: 9,619,422 (GRCm39) probably benign Het
Chl1 A T 6: 103,618,949 (GRCm39) L6F probably damaging Het
Chrnb1 C T 11: 69,675,935 (GRCm39) V436I possibly damaging Het
Col4a4 T C 1: 82,506,204 (GRCm39) E292G unknown Het
Ddx56 A G 11: 6,217,667 (GRCm39) L18P probably damaging Het
Dhx36 A C 3: 62,384,797 (GRCm39) probably benign Het
Dnah5 A T 15: 28,453,358 (GRCm39) R4376S possibly damaging Het
Dnah6 T A 6: 73,185,582 (GRCm39) D113V probably benign Het
Dnah7a A G 1: 53,512,118 (GRCm39) probably benign Het
Dock7 T A 4: 98,833,442 (GRCm39) K1920* probably null Het
Dysf A G 6: 84,076,471 (GRCm39) D628G probably benign Het
Exoc3l2 A G 7: 19,229,109 (GRCm39) I176V probably benign Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Fzd4 C T 7: 89,057,162 (GRCm39) T403M probably damaging Het
Gpr171 A T 3: 59,005,288 (GRCm39) N162K probably benign Het
Impdh1 T A 6: 29,206,924 (GRCm39) K132* probably null Het
Itgb2l A T 16: 96,223,850 (GRCm39) W730R possibly damaging Het
Krt72 G A 15: 101,690,556 (GRCm39) T232M probably damaging Het
Lpin3 T C 2: 160,740,540 (GRCm39) probably benign Het
Nup214 A C 2: 31,900,384 (GRCm39) probably benign Het
Or11g7 A T 14: 50,690,507 (GRCm39) probably benign Het
Or7d10 A G 9: 19,831,747 (GRCm39) M81V probably damaging Het
Or8c20 A G 9: 38,260,469 (GRCm39) Q24R probably benign Het
Or8g26 A G 9: 39,095,822 (GRCm39) Y113C probably damaging Het
Pdgfra T A 5: 75,355,635 (GRCm39) S1048R probably damaging Het
Sall3 G T 18: 81,012,728 (GRCm39) A1236E probably damaging Het
Sipa1 T C 19: 5,705,736 (GRCm39) T411A probably damaging Het
Thsd7a T G 6: 12,500,994 (GRCm39) D471A probably benign Het
Tm2d1 T A 4: 98,263,192 (GRCm39) E100D probably damaging Het
Tmcc1 A G 6: 116,110,849 (GRCm39) V148A probably damaging Het
Tubgcp6 A T 15: 88,986,518 (GRCm39) Y19* probably null Het
Ubr3 A G 2: 69,783,203 (GRCm39) Y713C probably damaging Het
Uevld A G 7: 46,605,377 (GRCm39) V39A probably benign Het
Vmn2r28 A T 7: 5,484,003 (GRCm39) H732Q probably damaging Het
Zfp629 A T 7: 127,209,484 (GRCm39) F775Y probably damaging 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
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
R6490:Jmjd8 UTSW 17 26,048,086 (GRCm39) missense probably benign 0.08
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
Posted On 2015-12-18