Incidental Mutation 'IGL02118:Rnf31'
ID280454
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 #IGL02118
Quality Score
Status
Chromosome14
Chromosomal Location55591708-55603693 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 55599112 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 801 (I801S)
Ref Sequence ENSEMBL: ENSMUSP00000019443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019443] [ENSMUST00000130697] [ENSMUST00000134863] [ENSMUST00000137296]
Predicted Effect probably damaging
Transcript: ENSMUST00000019443
AA Change: I801S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019443
Gene: ENSMUSG00000047098
AA Change: I801S

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: ENSMUST00000130697
SMART Domains Protein: ENSMUSP00000120359
Gene: ENSMUSG00000002325

DomainStartEndE-ValueType
IRF 5 117 1.19e-53 SMART
low complexity region 158 182 N/A INTRINSIC
low complexity region 185 194 N/A INTRINSIC
IRF-3 211 377 1.13e-59 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133903
Predicted Effect probably benign
Transcript: ENSMUST00000134863
SMART Domains Protein: ENSMUSP00000120525
Gene: ENSMUSG00000002325

DomainStartEndE-ValueType
low complexity region 34 58 N/A INTRINSIC
IRF 71 183 1.19e-53 SMART
low complexity region 224 248 N/A INTRINSIC
low complexity region 251 260 N/A INTRINSIC
IRF-3 277 443 1.13e-59 SMART
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 unknown
Transcript: ENSMUST00000140178
AA Change: I646S
SMART Domains Protein: ENSMUSP00000118215
Gene: ENSMUSG00000047098
AA Change: I646S

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: ENSMUST00000227664
Predicted Effect probably benign
Transcript: ENSMUST00000227708
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700057G04Rik A T 9: 92,350,958 K45* probably null Het
Acox3 T C 5: 35,601,521 Y359H possibly damaging Het
Actn2 A G 13: 12,276,547 probably benign Het
Actr8 T C 14: 29,982,771 probably null Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Aldob T A 4: 49,538,790 K243* probably null Het
Arfgap1 T C 2: 180,980,444 F274S possibly damaging Het
BC080695 A T 4: 143,571,156 T49S probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cask T C X: 13,559,395 I471V probably damaging Het
Cdc42ep4 C T 11: 113,729,116 G150S probably benign Het
Cpne1 T G 2: 156,077,643 D278A possibly damaging Het
Gcn1l1 A G 5: 115,610,879 E1856G probably damaging Het
Gm8362 A T 14: 6,771,516 V159E probably damaging Het
Golga5 A G 12: 102,495,752 I700V possibly damaging Het
Ifi206 T C 1: 173,481,768 T221A probably benign Het
Ighv2-6-8 T C 12: 113,796,417 K24R possibly damaging Het
Morc1 T C 16: 48,587,104 L661P probably benign Het
Per2 G A 1: 91,424,309 T825I probably damaging Het
Prkar2b A G 12: 31,975,964 V19A probably damaging Het
Psmb8 T A 17: 34,201,224 D263E probably damaging Het
Pum2 T C 12: 8,729,117 I563T probably benign Het
Retreg1 T G 15: 25,966,623 probably null Het
Rfx7 A G 9: 72,617,204 T559A probably benign Het
Rom1 G T 19: 8,929,022 T51N possibly damaging Het
Sema6b G T 17: 56,132,821 P7T probably benign Het
Stpg1 A G 4: 135,508,064 probably benign Het
Sugct A T 13: 17,452,520 Y249* probably null Het
Tbc1d21 C T 9: 58,360,463 V317M probably benign Het
Tcea2 A G 2: 181,685,835 I125V probably benign Het
Ttc39b T A 4: 83,297,949 D19V probably damaging Het
Tti2 T A 8: 31,155,509 probably null Het
Usp32 A T 11: 85,032,177 Y142* probably null Het
Vill A G 9: 119,060,398 Y134C probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Zfp398 A G 6: 47,858,945 D14G probably damaging Het
Zfp598 T C 17: 24,677,617 Y223H probably damaging Het
Znhit6 G T 3: 145,578,104 C43F probably damaging Het
Other mutations in Rnf31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Rnf31 APN 14 55592319 splice site probably null
IGL01532:Rnf31 APN 14 55602623 missense probably damaging 0.99
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 On2015-04-16