Incidental Mutation 'R0285:Rnf31'
ID 24697
Institutional Source Beutler Lab
Gene Symbol Rnf31
Ensembl Gene ENSMUSG00000047098
Gene Name ring finger protein 31
Synonyms Paul, HOIP
MMRRC Submission 038506-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0285 (G1)
Quality Score 186
Status Validated
Chromosome 14
Chromosomal Location 55829199-55841131 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55838846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 901 (A901T)
Ref Sequence ENSEMBL: ENSMUSP00000019443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019443] [ENSMUST00000130697] [ENSMUST00000134863] [ENSMUST00000137296] [ENSMUST00000138037]
AlphaFold Q924T7
Predicted Effect probably damaging
Transcript: ENSMUST00000019443
AA Change: A901T

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000019443
Gene: ENSMUSG00000047098
AA Change: A901T

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: ENSMUST00000136109
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: A746T
SMART Domains Protein: ENSMUSP00000118215
Gene: ENSMUSG00000047098
AA Change: A746T

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: ENSMUST00000145680
Predicted Effect probably benign
Transcript: ENSMUST00000138037
SMART Domains Protein: ENSMUSP00000119477
Gene: ENSMUSG00000002325

DomainStartEndE-ValueType
IRF 23 135 1.19e-53 SMART
low complexity region 176 200 N/A INTRINSIC
low complexity region 203 212 N/A INTRINSIC
IRF-3 229 395 1.13e-59 SMART
Predicted Effect unknown
Transcript: ENSMUST00000227708
AA Change: A40T
Meta Mutation Damage Score 0.1324 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.1%
  • 20x: 92.9%
Validation Efficiency 99% (80/81)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy3 A G 19: 4,038,193 (GRCm39) E162G probably benign Het
Angptl1 T C 1: 156,672,785 (GRCm39) S204P probably benign Het
Atf6b C T 17: 34,869,370 (GRCm39) probably benign Het
Card11 G A 5: 140,872,856 (GRCm39) S619F probably damaging Het
Ccdc192 G A 18: 57,666,937 (GRCm39) G5S probably damaging Het
Ccl11 G A 11: 81,953,084 (GRCm39) V81I probably damaging Het
Cds1 T C 5: 101,944,904 (GRCm39) I126T probably damaging Het
Chd1 A G 17: 17,594,942 (GRCm39) probably benign Het
Cndp1 C A 18: 84,636,363 (GRCm39) V384F possibly damaging Het
Cuta A G 17: 27,158,423 (GRCm39) probably null Het
Diaph3 G A 14: 87,352,460 (GRCm39) T47I possibly damaging Het
Dop1a A T 9: 86,394,692 (GRCm39) S598C probably damaging Het
Dsp A G 13: 38,356,770 (GRCm39) M217V probably benign Het
Entrep1 G A 19: 23,956,749 (GRCm39) probably benign Het
Esyt1 T A 10: 128,348,087 (GRCm39) I898F possibly damaging Het
Fcsk G C 8: 111,620,349 (GRCm39) H235Q probably benign Het
Fgd3 A T 13: 49,417,424 (GRCm39) W680R possibly damaging Het
Folh1 A G 7: 86,391,373 (GRCm39) probably benign Het
Gadl1 C A 9: 115,859,806 (GRCm39) probably benign Het
Garem1 A G 18: 21,262,669 (GRCm39) M715T probably benign Het
Gpd2 A T 2: 57,228,967 (GRCm39) D257V probably benign Het
Hdac7 A G 15: 97,696,103 (GRCm39) probably null Het
Heatr5b A G 17: 79,115,882 (GRCm39) M858T probably benign Het
Inpp4b A T 8: 82,761,145 (GRCm39) probably benign Het
Iqgap3 G T 3: 88,004,297 (GRCm39) C461F probably benign Het
Lamb1 C A 12: 31,376,644 (GRCm39) C559* probably null Het
Lratd2 T C 15: 60,694,816 (GRCm39) H310R probably benign Het
Lrrc31 T C 3: 30,739,097 (GRCm39) N308S probably benign Het
Ly75 T C 2: 60,148,663 (GRCm39) Y1222C probably damaging Het
Map3k10 C A 7: 27,373,325 (GRCm39) R42L probably benign Het
Meioc A G 11: 102,563,017 (GRCm39) T72A probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mmp11 T C 10: 75,761,502 (GRCm39) Y366C probably damaging Het
N4bp2 T A 5: 65,963,902 (GRCm39) D650E probably benign Het
Ncoa6 T C 2: 155,257,621 (GRCm39) M641V probably damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nol4l G A 2: 153,325,773 (GRCm39) probably benign Het
Notch1 T G 2: 26,350,873 (GRCm39) D2089A possibly damaging Het
Or10q3 A G 19: 11,848,502 (GRCm39) L26P probably damaging Het
Or13c7 G A 4: 43,854,398 (GRCm39) V30M possibly damaging Het
Or52h2 A T 7: 103,838,531 (GRCm39) Y294* probably null Het
Or5b24 A T 19: 12,912,536 (GRCm39) M145L probably benign Het
Or5l13 A G 2: 87,780,475 (GRCm39) I34T probably damaging Het
Or5p68 A G 7: 107,945,706 (GRCm39) S161P probably benign Het
Or8d23 T A 9: 38,842,070 (GRCm39) I201N possibly damaging Het
Otof C T 5: 30,536,877 (GRCm39) probably null Het
Paox T C 7: 139,709,053 (GRCm39) F324L probably damaging Het
Pycr1 A T 11: 120,531,142 (GRCm39) I277N probably benign Het
R3hcc1l A T 19: 42,564,568 (GRCm39) H627L probably damaging Het
Rab21 G A 10: 115,126,768 (GRCm39) S193L probably benign Het
Ralgds T G 2: 28,440,581 (GRCm39) probably null Het
Rbm42 A G 7: 30,345,265 (GRCm39) S169P possibly damaging Het
Rfpl4 A G 7: 5,113,377 (GRCm39) V262A probably benign Het
Rhobtb3 A G 13: 76,025,628 (GRCm39) I496T possibly damaging Het
Ryr2 T C 13: 11,731,863 (GRCm39) D2359G probably damaging Het
Sgo2b A C 8: 64,381,823 (GRCm39) Y336* probably null Het
Slc16a7 T A 10: 125,130,500 (GRCm39) I62L probably benign Het
Slc22a21 A T 11: 53,850,022 (GRCm39) probably benign Het
Slc25a21 A G 12: 56,904,810 (GRCm39) probably null Het
Slc5a4b T C 10: 75,898,117 (GRCm39) I532M probably damaging Het
Spata31f1a G A 4: 42,850,236 (GRCm39) T640M probably benign Het
Srrm4 C A 5: 116,605,848 (GRCm39) probably benign Het
Stxbp1 C A 2: 32,713,554 (GRCm39) E27D probably benign Het
Sult2a5 T A 7: 13,362,685 (GRCm39) Y131N probably damaging Het
Svopl T C 6: 37,961,457 (GRCm39) Q492R probably benign Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Tmem87a A G 2: 120,224,905 (GRCm39) S119P probably benign Het
Tmprss11c A G 5: 86,419,289 (GRCm39) L90P probably damaging Het
Tmprss6 T A 15: 78,337,068 (GRCm39) D346V probably damaging Het
Ubr4 A C 4: 139,168,112 (GRCm39) S2820R probably damaging Het
Usp4 T C 9: 108,255,763 (GRCm39) V607A probably benign Het
Usp45 A G 4: 21,798,603 (GRCm39) probably null Het
Vill C T 9: 118,899,895 (GRCm39) probably benign Het
Vmn1r13 C A 6: 57,186,979 (GRCm39) T46N probably benign Het
Vmn2r107 A G 17: 20,565,873 (GRCm39) T63A probably benign Het
Vmn2r82 T A 10: 79,232,391 (GRCm39) W797R probably damaging Het
Washc2 T A 6: 116,198,800 (GRCm39) D287E probably damaging Het
Xpc G A 6: 91,475,046 (GRCm39) L660F probably damaging Het
Other mutations in Rnf31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Rnf31 APN 14 55,829,776 (GRCm39) splice site probably null
IGL01532:Rnf31 APN 14 55,840,080 (GRCm39) missense probably damaging 0.99
IGL02118:Rnf31 APN 14 55,836,569 (GRCm39) missense probably damaging 1.00
IGL02272:Rnf31 APN 14 55,836,239 (GRCm39) missense probably damaging 1.00
IGL02893:Rnf31 APN 14 55,836,566 (GRCm39) missense probably damaging 1.00
IGL02939:Rnf31 APN 14 55,833,131 (GRCm39) missense probably benign 0.30
R0678:Rnf31 UTSW 14 55,839,170 (GRCm39) nonsense probably null
R0924:Rnf31 UTSW 14 55,830,459 (GRCm39) unclassified probably benign
R1386:Rnf31 UTSW 14 55,834,221 (GRCm39) missense probably damaging 1.00
R1507:Rnf31 UTSW 14 55,836,439 (GRCm39) nonsense probably null
R2122:Rnf31 UTSW 14 55,833,654 (GRCm39) missense probably damaging 1.00
R2164:Rnf31 UTSW 14 55,829,994 (GRCm39) missense possibly damaging 0.90
R3714:Rnf31 UTSW 14 55,840,851 (GRCm39) missense probably damaging 1.00
R3921:Rnf31 UTSW 14 55,838,599 (GRCm39) missense probably damaging 1.00
R4348:Rnf31 UTSW 14 55,838,555 (GRCm39) frame shift probably null
R4349:Rnf31 UTSW 14 55,838,555 (GRCm39) frame shift probably null
R4350:Rnf31 UTSW 14 55,838,555 (GRCm39) frame shift probably null
R4351:Rnf31 UTSW 14 55,838,555 (GRCm39) frame shift probably null
R4353:Rnf31 UTSW 14 55,838,555 (GRCm39) frame shift probably null
R4472:Rnf31 UTSW 14 55,840,777 (GRCm39) missense probably damaging 1.00
R5004:Rnf31 UTSW 14 55,829,639 (GRCm39) missense probably damaging 1.00
R5245:Rnf31 UTSW 14 55,839,163 (GRCm39) missense probably damaging 1.00
R5286:Rnf31 UTSW 14 55,829,693 (GRCm39) missense probably damaging 1.00
R5669:Rnf31 UTSW 14 55,834,161 (GRCm39) missense probably damaging 1.00
R5750:Rnf31 UTSW 14 55,836,143 (GRCm39) missense probably damaging 1.00
R6377:Rnf31 UTSW 14 55,832,984 (GRCm39) missense probably damaging 1.00
R7009:Rnf31 UTSW 14 55,830,008 (GRCm39) missense probably benign 0.00
R7018:Rnf31 UTSW 14 55,829,690 (GRCm39) missense probably damaging 1.00
R7670:Rnf31 UTSW 14 55,831,818 (GRCm39) missense probably benign 0.08
R7876:Rnf31 UTSW 14 55,830,534 (GRCm39) critical splice donor site probably null
R8490:Rnf31 UTSW 14 55,833,566 (GRCm39) missense probably damaging 1.00
R8818:Rnf31 UTSW 14 55,832,396 (GRCm39) missense probably benign 0.10
R8900:Rnf31 UTSW 14 55,833,689 (GRCm39) missense probably damaging 1.00
R9246:Rnf31 UTSW 14 55,833,698 (GRCm39) missense probably benign 0.01
R9454:Rnf31 UTSW 14 55,833,609 (GRCm39) missense
R9526:Rnf31 UTSW 14 55,836,269 (GRCm39) critical splice donor site probably null
R9756:Rnf31 UTSW 14 55,836,582 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGGTCTGATGGGCAATAGCTCC -3'
(R):5'- CCTCTGACCTGCAACAGTTTCTGG -3'

Sequencing Primer
(F):5'- CAATAGCTCCCTGCTGGAAG -3'
(R):5'- TCCAGTCCCGTAGGTAGAAG -3'
Posted On 2013-04-16