Incidental Mutation 'IGL02852:Rnf39'
ID361960
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf39
Ensembl Gene ENSMUSG00000036492
Gene Namering finger protein 39
SynonymsLOC240094, LIRF, LOC386454, LOC386465
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL02852
Quality Score
Status
Chromosome17
Chromosomal Location36942918-36947986 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 36945202 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040402] [ENSMUST00000040498] [ENSMUST00000173072] [ENSMUST00000173540] [ENSMUST00000174669] [ENSMUST00000174711]
Predicted Effect probably benign
Transcript: ENSMUST00000040402
SMART Domains Protein: ENSMUSP00000047202
Gene: ENSMUSG00000036398

DomainStartEndE-ValueType
Pfam:PPI_Ypi1 22 87 8.7e-26 PFAM
low complexity region 105 128 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000040498
SMART Domains Protein: ENSMUSP00000037860
Gene: ENSMUSG00000036492

DomainStartEndE-ValueType
RING 20 66 3.47e-4 SMART
low complexity region 99 109 N/A INTRINSIC
PRY 159 212 6.23e-15 SMART
Blast:SPRY 213 349 1e-21 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173072
SMART Domains Protein: ENSMUSP00000133710
Gene: ENSMUSG00000036492

DomainStartEndE-ValueType
RING 20 66 3.47e-4 SMART
low complexity region 99 109 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173540
SMART Domains Protein: ENSMUSP00000134322
Gene: ENSMUSG00000036398

DomainStartEndE-ValueType
Pfam:PPI_Ypi1 5 77 2e-24 PFAM
low complexity region 94 117 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174669
SMART Domains Protein: ENSMUSP00000134113
Gene: ENSMUSG00000036492

DomainStartEndE-ValueType
PRY 37 90 6.23e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174711
SMART Domains Protein: ENSMUSP00000134685
Gene: ENSMUSG00000036398

DomainStartEndE-ValueType
Pfam:PPI_Ypi1 22 87 8.7e-26 PFAM
low complexity region 105 128 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene lies within the major histocompatibility complex class I region on chromosome 6. Studies of a similar rat protein suggest that this gene encodes a protein that plays a role in an early phase of synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcar1 A T 8: 111,715,347 L287* probably null Het
Birc3 A G 9: 7,854,483 I402T probably damaging Het
Btrc T A 19: 45,512,656 L153* probably null Het
C2cd3 T C 7: 100,430,189 F1245L probably damaging Het
Cabp7 C T 11: 4,738,912 R186H probably damaging Het
Cdk5r2 T C 1: 74,856,139 S348P probably benign Het
Clca3a2 T C 3: 144,806,343 D544G probably damaging Het
Col6a6 A C 9: 105,784,073 I279S probably damaging Het
Csmd1 T A 8: 15,895,728 T3562S probably damaging Het
Dgkd T C 1: 87,935,413 S61P probably damaging Het
Dph5 T A 3: 115,928,671 M266K possibly damaging Het
Gm14226 G A 2: 155,024,921 S266N possibly damaging Het
Gm28047 A G 15: 102,538,218 V400A possibly damaging Het
Gm4788 T C 1: 139,774,016 Y120C probably damaging Het
Gucy1a2 A G 9: 3,759,691 D499G probably benign Het
Hoxb7 C T 11: 96,289,494 T173M possibly damaging Het
Kcnn3 T A 3: 89,609,616 I444N probably damaging Het
Kif1b A G 4: 149,291,328 I27T probably damaging Het
Krtap8-1 A G 16: 89,487,865 Y15H probably benign Het
Myo18b C T 5: 112,715,511 V2154I probably benign Het
Pcdhb3 A G 18: 37,302,097 D372G probably damaging Het
Pfkp G T 13: 6,605,023 P340Q possibly damaging Het
Plcd3 C T 11: 103,073,805 R580Q probably damaging Het
Pou5f2 G A 13: 78,025,059 R40Q probably benign Het
Ppara G T 15: 85,797,878 M258I probably benign Het
Proc A G 18: 32,125,155 S246P probably damaging Het
Ptpn21 T C 12: 98,715,195 probably null Het
Ripor2 T C 13: 24,695,698 F383S probably damaging Het
Sema6c C A 3: 95,169,984 probably benign Het
Slc16a5 A G 11: 115,469,579 E196G probably benign Het
Slco1c1 T A 6: 141,547,824 L313* probably null Het
Slit2 T C 5: 48,244,672 F789S probably damaging Het
Spta1 A G 1: 174,244,110 M2219V probably benign Het
Sqle A T 15: 59,326,071 H380L probably damaging Het
Tek T C 4: 94,855,324 Y859H probably damaging Het
Trcg1 A T 9: 57,241,312 T56S possibly damaging Het
Ttc23 T A 7: 67,667,155 probably benign Het
Ttn A G 2: 76,944,304 probably benign Het
Uba1y C T Y: 828,841 R550* probably null Het
Ubqln4 T C 3: 88,555,471 V81A probably damaging Het
Ugt2b38 C T 5: 87,411,741 E431K probably benign Het
Vmn1r85 T G 7: 13,085,083 I45L possibly damaging Het
Vmn2r68 T G 7: 85,233,387 S386R probably damaging Het
Washc4 A G 10: 83,583,309 T902A possibly damaging Het
Zc3h15 G A 2: 83,644,671 A7T possibly damaging Het
Zdhhc19 A C 16: 32,497,642 T72P probably damaging Het
Zfp729a A T 13: 67,619,951 S720T possibly damaging Het
Zfp729b T C 13: 67,592,823 K441R probably damaging Het
Zfy2 C T Y: 2,106,894 G580D probably benign Het
Zfy2 T A Y: 2,117,188 H213L probably benign Het
Other mutations in Rnf39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01773:Rnf39 APN 17 36945436 missense possibly damaging 0.84
R3771:Rnf39 UTSW 17 36947229 missense probably damaging 1.00
R3967:Rnf39 UTSW 17 36943143 missense probably damaging 1.00
R5026:Rnf39 UTSW 17 36945534 missense probably benign 0.18
R5294:Rnf39 UTSW 17 36947200 missense probably damaging 1.00
R6139:Rnf39 UTSW 17 36943338 missense probably damaging 1.00
R6699:Rnf39 UTSW 17 36947229 missense probably damaging 1.00
R7396:Rnf39 UTSW 17 36947079 missense probably damaging 0.98
R7436:Rnf39 UTSW 17 36943349 missense probably benign 0.39
R7536:Rnf39 UTSW 17 36943117 missense probably damaging 1.00
R7888:Rnf39 UTSW 17 36947241 missense probably damaging 0.99
R8164:Rnf39 UTSW 17 36943400 missense probably damaging 0.98
X0067:Rnf39 UTSW 17 36943266 missense possibly damaging 0.85
Posted On2015-12-18