Incidental Mutation 'IGL00158:Rnf31'
ID962
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf31
Ensembl Gene ENSMUSG00000047098
Gene Namering finger protein 31
SynonymsPaul, HOIP
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00158
Quality Score
Status
Chromosome14
Chromosomal Location55591708-55603693 bp(+) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) A to G at 55592319 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000019443] [ENSMUST00000111378] [ENSMUST00000137296] [ENSMUST00000159687] [ENSMUST00000161807]
Predicted Effect probably null
Transcript: ENSMUST00000019443
SMART Domains Protein: ENSMUSP00000019443
Gene: ENSMUSG00000047098

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:PUB 68 148 7.1e-17 PFAM
low complexity region 262 294 N/A INTRINSIC
ZnF_RBZ 298 322 2.56e-1 SMART
ZnF_RBZ 346 370 6.93e-5 SMART
ZnF_RBZ 405 429 4.86e-1 SMART
Pfam:HOIP-UBA 477 622 2.4e-54 PFAM
Blast:RING 693 741 7e-25 BLAST
IBR 773 835 3.18e-14 SMART
IBR 847 924 5.35e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111378
SMART Domains Protein: ENSMUSP00000107009
Gene: ENSMUSG00000079197

DomainStartEndE-ValueType
Pfam:PA28_alpha 1 64 2.2e-26 PFAM
Pfam:PA28_beta 82 231 1.7e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137296
SMART Domains Protein: ENSMUSP00000122955
Gene: ENSMUSG00000047098

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:PUB 66 151 6.8e-17 PFAM
Blast:RING 214 257 3e-17 BLAST
low complexity region 262 294 N/A INTRINSIC
ZnF_RBZ 298 322 2.56e-1 SMART
ZnF_RBZ 346 370 6.93e-5 SMART
ZnF_RBZ 404 428 4.86e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000140178
SMART Domains Protein: ENSMUSP00000118215
Gene: ENSMUSG00000047098

DomainStartEndE-ValueType
PDB:4OYJ|M 2 85 1e-29 PDB
low complexity region 164 196 N/A INTRINSIC
ZnF_RBZ 200 224 2.56e-1 SMART
ZnF_RBZ 248 272 6.93e-5 SMART
ZnF_RBZ 307 331 4.86e-1 SMART
Pfam:HOIP-UBA 369 468 1.1e-31 PFAM
Blast:RING 539 587 9e-25 BLAST
IBR 619 681 3.18e-14 SMART
IBR 693 770 5.35e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159297
Predicted Effect probably benign
Transcript: ENSMUST00000159687
SMART Domains Protein: ENSMUSP00000125596
Gene: ENSMUSG00000079197

DomainStartEndE-ValueType
Pfam:PA28_alpha 1 64 1.2e-26 PFAM
Pfam:PA28_beta 82 165 3e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161573
Predicted Effect probably benign
Transcript: ENSMUST00000161807
SMART Domains Protein: ENSMUSP00000123798
Gene: ENSMUSG00000079197

DomainStartEndE-ValueType
Pfam:PA28_alpha 11 71 1.2e-26 PFAM
Pfam:PA28_beta 93 237 5.3e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162700
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227664
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The encoded protein is the E3 ubiquitin-protein ligase component of the linear ubiquitin chain assembly complex. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice homozygous for a conditional allele activated in B cells exhibit severely impaired B1 B cell development and impaired antibody responses to both T cell-dependent and T cell-independent type 2 antigens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik T C 11: 76,003,366 S190P probably benign Het
Abhd3 T A 18: 10,647,869 D300V possibly damaging Het
Agap1 A G 1: 89,663,796 probably benign Het
Best3 A G 10: 117,004,541 probably benign Het
Cfap43 T G 19: 47,830,475 I125L probably benign Het
Cntn1 A G 15: 92,250,877 E335G possibly damaging Het
Csmd3 A T 15: 48,287,495 S396T possibly damaging Het
Cxxc5 T G 18: 35,860,692 *318G probably null Het
Dpep3 T C 8: 105,979,147 T49A probably benign Het
Elf1 T A 14: 79,580,349 M436K possibly damaging Het
Ephx2 T G 14: 66,092,837 I310L probably benign Het
Fancm A G 12: 65,075,736 T11A possibly damaging Het
Ganab G T 19: 8,902,595 A73S probably benign Het
Glp1r T G 17: 30,901,917 L14R possibly damaging Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Krtap9-1 C T 11: 99,873,854 P139S unknown Het
L2hgdh T C 12: 69,701,434 D306G possibly damaging Het
Lrriq4 A G 3: 30,650,955 probably null Het
Mbd3 T G 10: 80,393,883 probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Mug1 T C 6: 121,865,809 S585P probably damaging Het
Nat8f4 C A 6: 85,900,987 A185S probably benign Het
Nlrc5 C T 8: 94,502,211 probably benign Het
Olfr874 T A 9: 37,746,389 I85N possibly damaging Het
Olfr937 T A 9: 39,059,863 M268L probably benign Het
Peg3 T A 7: 6,710,274 I650F probably benign Het
Prom1 A T 5: 44,055,937 N142K probably damaging Het
Qser1 T A 2: 104,766,056 D1537V probably damaging Het
Rbm44 T A 1: 91,157,109 D684E probably benign Het
Rnf19a A C 15: 36,265,802 S50A probably damaging Het
Rspry1 A G 8: 94,622,986 M1V probably null Het
Rspry1 A T 8: 94,622,980 probably benign Het
Sap130 C A 18: 31,698,766 P769T probably benign Het
Slc22a16 T A 10: 40,595,282 M483K probably damaging Het
Slc27a1 T C 8: 71,584,772 probably null Het
Slc35a5 A T 16: 45,152,608 C65* probably null Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Ubqlnl T C 7: 104,149,165 E375G probably benign Het
Uggt2 G A 14: 119,049,276 T692I possibly damaging Het
Vmn1r211 A T 13: 22,852,102 C132S probably benign Het
Vmn2r61 A T 7: 42,300,751 N865I possibly damaging Het
Vmn2r73 A T 7: 85,857,587 M839K probably benign Het
Xrn2 T A 2: 147,036,750 S455R probably benign Het
Zan T A 5: 137,454,257 T1521S unknown Het
Zfp326 A G 5: 105,907,045 M361V possibly damaging Het
Zfp472 A G 17: 32,977,524 Y191C possibly damaging Het
Other mutations in Rnf31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01532:Rnf31 APN 14 55602623 missense probably damaging 0.99
IGL02118:Rnf31 APN 14 55599112 missense probably damaging 1.00
IGL02272:Rnf31 APN 14 55598782 missense probably damaging 1.00
IGL02893:Rnf31 APN 14 55599109 missense probably damaging 1.00
IGL02939:Rnf31 APN 14 55595674 missense probably benign 0.30
R0285:Rnf31 UTSW 14 55601389 missense probably damaging 0.96
R0678:Rnf31 UTSW 14 55601713 nonsense probably null
R0924:Rnf31 UTSW 14 55593002 unclassified probably benign
R1386:Rnf31 UTSW 14 55596764 missense probably damaging 1.00
R1507:Rnf31 UTSW 14 55598982 nonsense probably null
R2122:Rnf31 UTSW 14 55596197 missense probably damaging 1.00
R2164:Rnf31 UTSW 14 55592537 missense possibly damaging 0.90
R3714:Rnf31 UTSW 14 55603394 missense probably damaging 1.00
R3921:Rnf31 UTSW 14 55601142 missense probably damaging 1.00
R4348:Rnf31 UTSW 14 55601098 frame shift probably null
R4349:Rnf31 UTSW 14 55601098 frame shift probably null
R4350:Rnf31 UTSW 14 55601098 frame shift probably null
R4351:Rnf31 UTSW 14 55601098 frame shift probably null
R4353:Rnf31 UTSW 14 55601098 frame shift probably null
R4472:Rnf31 UTSW 14 55603320 missense probably damaging 1.00
R5004:Rnf31 UTSW 14 55592182 missense probably damaging 1.00
R5245:Rnf31 UTSW 14 55601706 missense probably damaging 1.00
R5286:Rnf31 UTSW 14 55592236 missense probably damaging 1.00
R5669:Rnf31 UTSW 14 55596704 missense probably damaging 1.00
R5750:Rnf31 UTSW 14 55598686 missense probably damaging 1.00
R6377:Rnf31 UTSW 14 55595527 missense probably damaging 1.00
R7009:Rnf31 UTSW 14 55592551 missense probably benign 0.00
R7018:Rnf31 UTSW 14 55592233 missense probably damaging 1.00
R7670:Rnf31 UTSW 14 55594361 missense probably benign 0.08
Posted On2011-07-12