Incidental Mutation 'R3967:Rnf39'
ID 312414
Institutional Source Beutler Lab
Gene Symbol Rnf39
Ensembl Gene ENSMUSG00000036492
Gene Name ring finger protein 39
Synonyms LIRF, LOC386454, LOC386465, LOC240094
MMRRC Submission 040838-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R3967 (G1)
Quality Score 187
Status Validated
Chromosome 17
Chromosomal Location 37253943-37258878 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 37254035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 19 (T19K)
Ref Sequence ENSEMBL: ENSMUSP00000133710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040498] [ENSMUST00000173072] [ENSMUST00000174669]
AlphaFold A2RT81
Predicted Effect probably damaging
Transcript: ENSMUST00000040498
AA Change: T19K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037860
Gene: ENSMUSG00000036492
AA Change: T19K

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 damaging
Transcript: ENSMUST00000173072
AA Change: T19K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133710
Gene: ENSMUSG00000036492
AA Change: T19K

DomainStartEndE-ValueType
RING 20 66 3.47e-4 SMART
low complexity region 99 109 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174669
SMART Domains Protein: ENSMUSP00000134113
Gene: ENSMUSG00000036492

DomainStartEndE-ValueType
PRY 37 90 6.23e-15 SMART
Meta Mutation Damage Score 0.3126 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.2%
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 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik G T 8: 122,266,719 (GRCm39) Q56K possibly damaging Het
Adam18 C A 8: 25,119,726 (GRCm39) V518L probably benign Het
Akap6 A T 12: 53,188,236 (GRCm39) K1883N probably damaging Het
Arhgef12 C A 9: 42,916,847 (GRCm39) R432L probably damaging Het
Armcx6 G T X: 133,650,505 (GRCm39) H109N possibly damaging Het
Ctnnd2 C A 15: 30,647,075 (GRCm39) A257E possibly damaging Het
Depdc5 T A 5: 33,101,459 (GRCm39) C322* probably null Het
Enpp7 T C 11: 118,881,827 (GRCm39) I324T probably damaging Het
Gm14401 T C 2: 176,778,789 (GRCm39) Y292H possibly damaging Het
Gm6871 A T 7: 41,196,148 (GRCm39) H196Q probably damaging Het
Gm9964 T C 11: 79,187,202 (GRCm39) T82A unknown Het
Gria2 T A 3: 80,618,084 (GRCm39) Q317L possibly damaging Het
Grtp1 G A 8: 13,239,705 (GRCm39) T134I probably benign Het
Itpkb A T 1: 180,155,363 (GRCm39) probably benign Het
Kbtbd12 A G 6: 88,595,488 (GRCm39) V114A probably benign Het
Lama3 A T 18: 12,713,398 (GRCm39) K3230M probably damaging Het
Ly75 T C 2: 60,158,217 (GRCm39) I1023V possibly damaging Het
Myof C T 19: 37,889,711 (GRCm39) V1287M probably damaging Het
Myof T G 19: 38,011,058 (GRCm39) D60A possibly damaging Het
Narf A T 11: 121,129,247 (GRCm39) E10D possibly damaging Het
Nlrx1 A T 9: 44,166,722 (GRCm39) probably benign Het
Or10a3m A G 7: 108,313,060 (GRCm39) M155V probably benign Het
Or8b54 A G 9: 38,686,664 (GRCm39) T38A probably benign Het
Pabpc5 A G X: 118,838,321 (GRCm39) E212G probably benign Het
Pidd1 A G 7: 141,018,995 (GRCm39) F829L possibly damaging Het
Pik3r2 G A 8: 71,223,065 (GRCm39) R452C probably benign Het
Pkn2 A G 3: 142,515,438 (GRCm39) C658R probably damaging Het
Psd C T 19: 46,312,845 (GRCm39) R175H probably benign Het
Rab39 G A 9: 53,597,932 (GRCm39) A111V possibly damaging Het
Rb1cc1 T A 1: 6,318,494 (GRCm39) probably benign Het
Slc16a3 C T 11: 120,846,251 (GRCm39) T60M possibly damaging Het
Slc26a4 G T 12: 31,578,686 (GRCm39) H656N probably damaging Het
Slc27a1 A G 8: 72,032,431 (GRCm39) E184G probably damaging Het
Smc6 T C 12: 11,348,327 (GRCm39) V742A probably benign Het
Thoc1 T A 18: 9,968,787 (GRCm39) V186D probably damaging Het
Uhrf2 T C 19: 30,057,315 (GRCm39) V491A probably damaging Het
Uri1 A G 7: 37,664,927 (GRCm39) V253A possibly damaging Het
Vmn2r83 T A 10: 79,327,154 (GRCm39) N587K probably benign Het
Vmn2r88 A T 14: 51,650,647 (GRCm39) Y120F probably benign Het
Wwox G A 8: 115,215,673 (GRCm39) A149T probably damaging Het
Zfp536 T C 7: 37,173,255 (GRCm39) *282W probably null Het
Other mutations in Rnf39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01773:Rnf39 APN 17 37,256,328 (GRCm39) missense possibly damaging 0.84
IGL02852:Rnf39 APN 17 37,256,094 (GRCm39) unclassified probably benign
R3771:Rnf39 UTSW 17 37,258,121 (GRCm39) missense probably damaging 1.00
R5026:Rnf39 UTSW 17 37,256,426 (GRCm39) missense probably benign 0.18
R5294:Rnf39 UTSW 17 37,258,092 (GRCm39) missense probably damaging 1.00
R6139:Rnf39 UTSW 17 37,254,230 (GRCm39) missense probably damaging 1.00
R6699:Rnf39 UTSW 17 37,258,121 (GRCm39) missense probably damaging 1.00
R7396:Rnf39 UTSW 17 37,257,971 (GRCm39) missense probably damaging 0.98
R7436:Rnf39 UTSW 17 37,254,241 (GRCm39) missense probably benign 0.39
R7536:Rnf39 UTSW 17 37,254,009 (GRCm39) missense probably damaging 1.00
R7888:Rnf39 UTSW 17 37,258,133 (GRCm39) missense probably damaging 0.99
R8164:Rnf39 UTSW 17 37,254,292 (GRCm39) missense probably damaging 0.98
X0067:Rnf39 UTSW 17 37,254,158 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- CTCTGAGTCCGATCTGGGTAAC -3'
(R):5'- ATGGCTCCCACCTTTGCTAG -3'

Sequencing Primer
(F):5'- GTAACCGAGGCAGCCCG -3'
(R):5'- ATCCAGGCAACCCATGGTG -3'
Posted On 2015-04-29