Incidental Mutation 'R4350:Rnf31'
ID 328478
Institutional Source Beutler Lab
Gene Symbol Rnf31
Ensembl Gene ENSMUSG00000047098
Gene Name ring finger protein 31
Synonyms Paul, HOIP
MMRRC Submission 041105-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4350 (G1)
Quality Score 217
Status Not validated
Chromosome 14
Chromosomal Location 55829199-55841131 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) AAC to A at 55838555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000019443] [ENSMUST00000130697] [ENSMUST00000134863] [ENSMUST00000137296] [ENSMUST00000138037]
AlphaFold Q924T7
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: 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 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: 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 probably benign
Transcript: ENSMUST00000227708
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,498,020 (GRCm39) probably null Het
Adamts1 T A 16: 85,599,234 (GRCm39) D122V probably benign Het
Ap3d1 T C 10: 80,555,119 (GRCm39) D402G probably benign Het
Ccdc88b T C 19: 6,827,640 (GRCm39) E954G probably damaging Het
Cdh20 A G 1: 104,906,814 (GRCm39) D547G probably damaging Het
Cst13 A G 2: 148,672,169 (GRCm39) M115V probably benign Het
Ctr9 T A 7: 110,648,525 (GRCm39) Y722N probably damaging Het
Dvl3 T C 16: 20,344,394 (GRCm39) Y257H possibly damaging Het
Dzip1 T C 14: 119,120,938 (GRCm39) D673G probably benign Het
Enah A T 1: 181,749,985 (GRCm39) S266T possibly damaging Het
Epha7 T C 4: 28,950,393 (GRCm39) V732A probably damaging Het
F13b A G 1: 139,444,036 (GRCm39) I457V probably benign Het
Fam98a A G 17: 75,848,220 (GRCm39) F165L probably damaging Het
Gcn1 G T 5: 115,741,389 (GRCm39) R1476L probably damaging Het
Gfy T C 7: 44,827,040 (GRCm39) E352G probably benign Het
Inava C T 1: 136,153,946 (GRCm39) V180I probably damaging Het
Lyn G A 4: 3,789,796 (GRCm39) R443H probably damaging Het
Mecom C A 3: 30,020,887 (GRCm39) V452L possibly damaging Het
Msh6 A G 17: 88,292,012 (GRCm39) S256G probably damaging Het
Ncor1 A G 11: 62,301,644 (GRCm39) probably null Het
Pabpc4 C T 4: 123,184,060 (GRCm39) T191I probably damaging Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Rchy1 T C 5: 92,105,813 (GRCm39) D45G probably damaging Het
Rftn2 T C 1: 55,233,440 (GRCm39) T372A probably damaging Het
Rlf G A 4: 121,006,293 (GRCm39) P896S probably benign Het
Rpl7a-ps3 T C 15: 36,308,283 (GRCm39) noncoding transcript Het
Sox7 A G 14: 64,185,995 (GRCm39) T344A probably benign Het
Sppl2b T C 10: 80,698,560 (GRCm39) Y127H probably benign Het
Srsf12 T C 4: 33,223,612 (GRCm39) V37A possibly damaging Het
Sst A G 16: 23,708,565 (GRCm39) S89P probably damaging Het
Svil T A 18: 5,118,154 (GRCm39) C1705S probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubgcp3 T C 8: 12,691,117 (GRCm39) T474A probably benign Het
Tubgcp6 G A 15: 88,988,198 (GRCm39) P925L probably benign 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
R0285:Rnf31 UTSW 14 55,838,846 (GRCm39) missense probably damaging 0.96
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
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'- GTGGCCCTCAGTTTTAGGATC -3'
(R):5'- ACGAGAACTTGCATTTCGGAC -3'

Sequencing Primer
(F):5'- GCCCTCAGTTTTAGGATCTAAGTG -3'
(R):5'- AGAACTTGCATTTCGGACAGTCTG -3'
Posted On 2015-07-07