Incidental Mutation 'IGL01532:Rnf31'
ID89789
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 #IGL01532
Quality Score
Status
Chromosome14
Chromosomal Location55591708-55603693 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 55602623 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 968 (Q968K)
Ref Sequence ENSEMBL: ENSMUSP00000019443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019443] [ENSMUST00000130697] [ENSMUST00000134863] [ENSMUST00000137296] [ENSMUST00000138037]
Predicted Effect probably damaging
Transcript: ENSMUST00000019443
AA Change: Q968K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000019443
Gene: ENSMUSG00000047098
AA Change: Q968K

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 noncoding transcript
Transcript: ENSMUST00000126269
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 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: ENSMUST00000140178
AA Change: Q813K
SMART Domains Protein: ENSMUSP00000118215
Gene: ENSMUSG00000047098
AA Change: Q813K

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: 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 C A 7: 66,908,601 N264K probably damaging Het
Adgrl3 C T 5: 81,694,569 T260I probably damaging Het
Ambra1 G T 2: 91,885,632 K769N probably damaging Het
Arel1 A G 12: 84,934,162 V357A possibly damaging Het
Atp11b T A 3: 35,849,502 C76* probably null Het
AW112010 C A 19: 11,048,069 noncoding transcript Het
Bfar A T 16: 13,687,387 probably benign Het
Ccdc70 T G 8: 21,973,283 L30V probably damaging Het
Chrm5 C T 2: 112,479,232 R513Q probably benign Het
Crem G A 18: 3,276,732 T7I probably benign Het
Cyp4f39 C T 17: 32,470,954 probably benign Het
Dlg5 T C 14: 24,158,592 T849A probably benign Het
Dock8 G T 19: 25,169,441 G1428V probably damaging Het
Eomes T C 9: 118,482,249 I380T probably damaging Het
Fam13a T C 6: 58,940,295 D532G probably damaging Het
Fopnl A G 16: 14,304,511 S130P probably benign Het
Gm10061 G T 16: 89,151,302 *55L probably null Het
Gm27438 T G 2: 87,252,925 probably benign Het
Gpalpp1 T C 14: 76,102,502 K124E probably benign Het
Hgs T A 11: 120,477,509 probably null Het
Hpn T A 7: 31,103,513 M121L possibly damaging Het
Il1r1 T C 1: 40,294,928 probably null Het
Jag2 A T 12: 112,914,363 C583S probably damaging Het
Katnal2 T C 18: 77,012,000 H146R probably benign Het
Ldah T C 12: 8,220,596 probably benign Het
Lvrn T A 18: 46,900,484 Y921N probably damaging Het
Muc5b A G 7: 141,870,006 Y4572C possibly damaging Het
Myo16 A G 8: 10,400,551 S518G probably benign Het
Ncf1 T C 5: 134,226,593 N148S probably benign Het
Nes T G 3: 87,978,347 D1260E possibly damaging Het
Nup210 C A 6: 91,085,999 probably benign Het
Olfr548-ps1 T C 7: 102,542,656 L240P probably damaging Het
Ros1 A G 10: 52,090,938 probably benign Het
Ryk T C 9: 102,897,266 Y400H probably benign Het
Slc4a5 T A 6: 83,273,040 probably null Het
Sptssb A G 3: 69,820,869 probably benign Het
Sstr5 T C 17: 25,491,331 D308G probably damaging Het
Taf2 A G 15: 55,049,486 W493R possibly damaging Het
Vmn2r28 T A 7: 5,486,464 I459L probably benign Het
Vti1b A C 12: 79,165,138 L1W probably null Het
Wdr1 T C 5: 38,535,187 Y125C probably damaging Het
Other mutations in Rnf31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Rnf31 APN 14 55592319 splice site probably null
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
R7876:Rnf31 UTSW 14 55593077 critical splice donor site probably null
R8490:Rnf31 UTSW 14 55596109 missense probably damaging 1.00
Posted On2013-12-03