Incidental Mutation 'R6449:Jazf1'
ID 519289
Institutional Source Beutler Lab
Gene Symbol Jazf1
Ensembl Gene ENSMUSG00000063568
Gene Name JAZF zinc finger 1
Synonyms Jaz1, Tip27
MMRRC Submission 044585-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6449 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 52745782-53045616 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 52754640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 145 (D145E)
Ref Sequence ENSEMBL: ENSMUSP00000074129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074541]
AlphaFold Q80ZQ5
Predicted Effect probably damaging
Transcript: ENSMUST00000074541
AA Change: D145E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074129
Gene: ENSMUSG00000063568
AA Change: D145E

DomainStartEndE-ValueType
ZnF_C2H2 12 37 6.67e-2 SMART
low complexity region 109 147 N/A INTRINSIC
low complexity region 151 162 N/A INTRINSIC
ZnF_C2H2 173 198 1.25e-1 SMART
ZnF_C2H2 208 230 5.83e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136250
Meta Mutation Damage Score 0.0786 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.6%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C T 7: 41,275,298 (GRCm39) Q334* probably null Het
Aadacl2fm2 A T 3: 59,652,972 (GRCm39) D137V probably damaging Het
Adam28 T C 14: 68,868,116 (GRCm39) T410A probably benign Het
Ano10 T C 9: 122,030,754 (GRCm39) probably benign Het
Bmpr2 T A 1: 59,906,596 (GRCm39) V563E probably damaging Het
Ccdc47 A G 11: 106,095,811 (GRCm39) L295P probably damaging Het
Cdhr1 T C 14: 36,812,554 (GRCm39) T210A probably benign Het
Col16a1 G A 4: 129,960,486 (GRCm39) A408T unknown Het
Csnk1g2 A G 10: 80,475,906 (GRCm39) K415R probably damaging Het
Cyp2c29 G T 19: 39,279,311 (GRCm39) A103S probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dsg1b A T 18: 20,527,498 (GRCm39) I210F possibly damaging Het
Fhod1 T A 8: 106,056,869 (GRCm39) D1002V probably damaging Het
Gm5592 G A 7: 40,938,010 (GRCm39) V431I probably benign Het
Gtpbp4 A T 13: 9,040,773 (GRCm39) C174* probably null Het
Il2ra A G 2: 11,685,173 (GRCm39) K170E probably benign Het
Itch T C 2: 155,005,315 (GRCm39) probably benign Het
Kank2 G T 9: 21,691,858 (GRCm39) A469E possibly damaging Het
Kirrel3 A G 9: 34,902,269 (GRCm39) I125V probably benign Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Krtap27-1 C T 16: 88,467,941 (GRCm39) S201N probably benign Het
Map3k20 T C 2: 72,228,758 (GRCm39) S326P probably damaging Het
Mkks C A 2: 136,716,206 (GRCm39) V565F probably damaging Het
Ntaq1 T G 15: 58,013,994 (GRCm39) probably null Het
Or5c1 A G 2: 37,221,837 (GRCm39) D26G possibly damaging Het
Or5k8 A T 16: 58,644,889 (GRCm39) I61N probably damaging Het
Or5w11 T C 2: 87,459,493 (GRCm39) S229P possibly damaging Het
Pacsin3 A T 2: 91,090,514 (GRCm39) probably null Het
Pdcd7 A G 9: 65,264,057 (GRCm39) E434G probably damaging Het
Plekhb2 T C 1: 34,903,564 (GRCm39) F102L probably benign Het
Ppp1r9a A G 6: 5,057,458 (GRCm39) D191G probably benign Het
Psmd3 A G 11: 98,576,466 (GRCm39) T123A probably benign Het
Ptprq C T 10: 107,541,444 (GRCm39) V361M probably benign Het
Raver2 A G 4: 100,990,869 (GRCm39) D414G probably benign Het
Rnf123 G A 9: 107,933,252 (GRCm39) H1162Y probably benign Het
Sema4f A G 6: 82,894,851 (GRCm39) V448A probably benign Het
Tcf12 A T 9: 71,775,550 (GRCm39) M400K probably damaging Het
Tcl1b2 G T 12: 105,119,261 (GRCm39) E50* probably null Het
Thada A C 17: 84,736,601 (GRCm39) D893E probably benign Het
Trim24 G A 6: 37,880,587 (GRCm39) probably null Het
Ttll5 T C 12: 86,071,050 (GRCm39) S1308P probably benign Het
Ubtfl1 T A 9: 18,320,925 (GRCm39) I151N possibly damaging Het
Vmn2r70 A T 7: 85,214,157 (GRCm39) F332I probably damaging Het
Zfhx4 A G 3: 5,307,488 (GRCm39) D238G probably damaging Het
Zfp639 A G 3: 32,573,810 (GRCm39) H145R possibly damaging Het
Other mutations in Jazf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0006:Jazf1 UTSW 6 52,871,071 (GRCm39) splice site probably benign
R0006:Jazf1 UTSW 6 52,871,071 (GRCm39) splice site probably benign
R0546:Jazf1 UTSW 6 52,754,681 (GRCm39) missense possibly damaging 0.65
R1508:Jazf1 UTSW 6 52,789,166 (GRCm39) missense probably damaging 0.98
R1522:Jazf1 UTSW 6 52,789,168 (GRCm39) missense probably damaging 0.98
R1926:Jazf1 UTSW 6 53,045,516 (GRCm39) missense probably benign
R1938:Jazf1 UTSW 6 52,754,600 (GRCm39) missense probably damaging 1.00
R5033:Jazf1 UTSW 6 52,754,525 (GRCm39) missense probably damaging 1.00
R6240:Jazf1 UTSW 6 52,754,537 (GRCm39) missense probably damaging 0.98
R7253:Jazf1 UTSW 6 52,754,637 (GRCm39) missense probably benign 0.01
R7454:Jazf1 UTSW 6 52,870,929 (GRCm39) splice site probably null
R8873:Jazf1 UTSW 6 52,789,165 (GRCm39) missense probably damaging 1.00
R9782:Jazf1 UTSW 6 52,747,311 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- ACAGGCAGCTCTCTTTAGAATTG -3'
(R):5'- AGGAGTAACAGCAGGCCATC -3'

Sequencing Primer
(F):5'- CAGCTCTCTTTAGAATTGCAAAGGGC -3'
(R):5'- TAACAGCAGGCCATCTGGGTC -3'
Posted On 2018-05-24