Incidental Mutation 'R0522:Jmjd7'
ID 48613
Institutional Source Beutler Lab
Gene Symbol Jmjd7
Ensembl Gene ENSMUSG00000098789
Gene Name jumonji domain containing 7
Synonyms
MMRRC Submission 038715-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R0522 (G1)
Quality Score 211
Status Validated
Chromosome 2
Chromosomal Location 119857964-119863075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 119860822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 91 (A91T)
Ref Sequence ENSEMBL: ENSMUSP00000117535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044675] [ENSMUST00000066058] [ENSMUST00000126150] [ENSMUST00000129679] [ENSMUST00000129685] [ENSMUST00000156805] [ENSMUST00000162393] [ENSMUST00000135365]
AlphaFold P0C872
Predicted Effect probably damaging
Transcript: ENSMUST00000044675
AA Change: A91T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000041220
Gene: ENSMUSG00000098789
AA Change: A91T

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
JmjC 128 307 4.31e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000066058
SMART Domains Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902

DomainStartEndE-ValueType
WD40 80 121 8.75e-5 SMART
WD40 124 165 3.64e-2 SMART
WD40 168 205 4.62e-1 SMART
low complexity region 220 234 N/A INTRINSIC
WD40 264 301 2.65e1 SMART
WD40 332 367 1.99e0 SMART
WD40 374 422 1.29e-2 SMART
WD40 463 502 3.9e-2 SMART
WD40 505 547 2.77e-1 SMART
WD40 551 592 2.67e-1 SMART
WD40 599 639 2.21e1 SMART
WD40 642 684 5.75e-1 SMART
WD40 687 726 6.04e-8 SMART
low complexity region 736 747 N/A INTRINSIC
low complexity region 779 795 N/A INTRINSIC
low complexity region 1028 1054 N/A INTRINSIC
coiled coil region 1400 1427 N/A INTRINSIC
low complexity region 1460 1477 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125805
SMART Domains Protein: ENSMUSP00000122869
Gene: ENSMUSG00000033852

DomainStartEndE-ValueType
Pfam:Cupin_8 2 62 2.8e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126150
SMART Domains Protein: ENSMUSP00000118458
Gene: ENSMUSG00000098488

DomainStartEndE-ValueType
C2 19 119 1.79e-17 SMART
PLAc 233 789 1.99e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129679
Predicted Effect probably damaging
Transcript: ENSMUST00000129685
AA Change: A91T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115498
Gene: ENSMUSG00000033852
AA Change: A91T

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
JmjC 128 308 1.65e-4 SMART
C2 242 342 1.79e-17 SMART
PLAc 456 1012 1.99e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130176
Predicted Effect probably damaging
Transcript: ENSMUST00000156805
AA Change: A91T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117535
Gene: ENSMUSG00000033852
AA Change: A91T

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
JmjC 128 308 1.65e-4 SMART
C2 242 342 1.79e-17 SMART
PLAc 456 892 8.56e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162393
AA Change: A91T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125329
Gene: ENSMUSG00000033852
AA Change: A91T

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
JmjC 128 242 4.42e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141511
Predicted Effect probably benign
Transcript: ENSMUST00000135365
Meta Mutation Damage Score 0.3312 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.8%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 A G 8: 84,456,805 (GRCm39) I192T probably benign Het
Adgrl3 T C 5: 81,874,648 (GRCm39) Y982H possibly damaging Het
Adgrv1 T A 13: 81,676,561 (GRCm39) probably benign Het
Alms1 T C 6: 85,598,597 (GRCm39) V1610A probably benign Het
Ankrd24 T C 10: 81,472,189 (GRCm39) probably benign Het
C2cd3 A G 7: 100,044,429 (GRCm39) N337S probably benign Het
Cdc40 T C 10: 40,733,608 (GRCm39) Y114C probably benign Het
Cdhr1 A T 14: 36,815,957 (GRCm39) probably null Het
Cfc1 G A 1: 34,576,234 (GRCm39) C98Y probably damaging Het
Cyp11b2 A T 15: 74,723,533 (GRCm39) probably benign Het
Cyth4 C A 15: 78,499,985 (GRCm39) H255Q possibly damaging Het
Degs1l A C 1: 180,887,312 (GRCm39) D299A probably damaging Het
Dip2a T C 10: 76,157,365 (GRCm39) K80R probably benign Het
Dnajb5 G T 4: 42,957,083 (GRCm39) D257Y probably damaging Het
Dynll1 T C 5: 115,438,565 (GRCm39) probably benign Het
Edn1 T A 13: 42,458,430 (GRCm39) V81E probably damaging Het
F5 T C 1: 164,039,332 (GRCm39) S1981P probably damaging Het
Fam186b T A 15: 99,178,400 (GRCm39) M309L probably benign Het
Gm14221 G A 2: 160,416,597 (GRCm39) noncoding transcript Het
Gnptab T A 10: 88,267,328 (GRCm39) probably benign Het
Golgb1 AAGAGAGAGAGAGAGA AAGAGAGAGAGAGA 16: 36,735,567 (GRCm39) probably null Het
Gpr176 A G 2: 118,114,493 (GRCm39) C106R probably damaging Het
Hdac7 A T 15: 97,704,560 (GRCm39) probably null Het
Hlx T C 1: 184,463,837 (GRCm39) S168G probably damaging Het
Hnf1a G T 5: 115,088,747 (GRCm39) probably benign Het
Hp1bp3 C T 4: 137,949,472 (GRCm39) L19F possibly damaging Het
Hspa14 T A 2: 3,512,086 (GRCm39) T63S probably damaging Het
Insrr C T 3: 87,708,179 (GRCm39) S207F probably damaging Het
Jak3 C A 8: 72,134,918 (GRCm39) probably benign Het
Lgals9 G T 11: 78,856,638 (GRCm39) H265Q possibly damaging Het
Lrriq1 T G 10: 102,997,638 (GRCm39) N1326H probably damaging Het
Mdn1 C A 4: 32,672,837 (GRCm39) Q486K probably benign Het
Mpeg1 A G 19: 12,439,123 (GRCm39) T194A probably damaging Het
Nek5 T A 8: 22,578,813 (GRCm39) probably benign Het
Pcgf2 A C 11: 97,582,873 (GRCm39) I135M probably benign Het
Phactr1 G T 13: 43,213,067 (GRCm39) A222S probably benign Het
Pla2r1 T C 2: 60,309,859 (GRCm39) S575G probably benign Het
Plcg2 T C 8: 118,341,027 (GRCm39) probably null Het
Pold3 A G 7: 99,770,590 (GRCm39) V14A probably damaging Het
Polg A G 7: 79,109,899 (GRCm39) probably benign Het
Poteg T G 8: 27,939,986 (GRCm39) L48V possibly damaging Het
Prmt1 A T 7: 44,631,203 (GRCm39) C50S probably benign Het
Prx T A 7: 27,217,620 (GRCm39) V707E probably damaging Het
Rrp12 C T 19: 41,863,144 (GRCm39) probably benign Het
Saxo1 A T 4: 86,363,340 (GRCm39) V381E probably damaging Het
Sh2d2a T C 3: 87,754,416 (GRCm39) probably null Het
Slc26a5 A C 5: 22,051,343 (GRCm39) I57R probably damaging Het
Slc38a3 T A 9: 107,532,412 (GRCm39) probably null Het
Slc5a4b T C 10: 75,926,534 (GRCm39) T188A probably damaging Het
Slc7a13 A G 4: 19,824,010 (GRCm39) I260V probably benign Het
Smg8 A T 11: 86,977,288 (GRCm39) S98T probably benign Het
Spart T A 3: 55,035,786 (GRCm39) S548R probably damaging Het
Sult6b1 C T 17: 79,212,958 (GRCm39) G98S probably damaging Het
Tbc1d2 A G 4: 46,649,806 (GRCm39) Y77H probably damaging Het
Tet2 T A 3: 133,172,565 (GRCm39) D1899V probably damaging Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Uap1l1 T C 2: 25,253,289 (GRCm39) E382G probably damaging Het
Ugt1a10 C T 1: 88,145,971 (GRCm39) P473L probably damaging Het
Ugt1a9 T C 1: 87,999,114 (GRCm39) V188A probably damaging Het
Virma T C 4: 11,519,416 (GRCm39) probably null Het
Xrcc6 T C 15: 81,906,793 (GRCm39) probably benign Het
Zfp719 A G 7: 43,238,677 (GRCm39) probably null Het
Zfp804b T A 5: 6,822,014 (GRCm39) T350S probably benign Het
Zfp959 G T 17: 56,203,201 (GRCm39) R61M probably null Het
Other mutations in Jmjd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1802:Jmjd7 UTSW 2 119,860,589 (GRCm39) missense probably damaging 1.00
R1803:Jmjd7 UTSW 2 119,860,589 (GRCm39) missense probably damaging 1.00
R2143:Jmjd7 UTSW 2 119,860,601 (GRCm39) splice site probably null
R4586:Jmjd7 UTSW 2 119,862,649 (GRCm39) missense probably benign 0.20
R6520:Jmjd7 UTSW 2 119,861,800 (GRCm39) missense probably damaging 0.97
R6805:Jmjd7 UTSW 2 119,861,804 (GRCm39) nonsense probably null
R7262:Jmjd7 UTSW 2 119,862,467 (GRCm39) missense probably benign 0.03
R7860:Jmjd7 UTSW 2 119,860,996 (GRCm39) missense possibly damaging 0.58
R8469:Jmjd7 UTSW 2 119,860,643 (GRCm39) missense possibly damaging 0.80
R9276:Jmjd7 UTSW 2 119,860,895 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- GATGTCCGTCATAGAGGGCTTCTTG -3'
(R):5'- GCACATGGGACTCAATGTCAGACAG -3'

Sequencing Primer
(F):5'- TAAGACCTCAATGTACCTCGTG -3'
(R):5'- ACTCAATGTCAGACAGAAGCTG -3'
Posted On 2013-06-12