Incidental Mutation 'R2253:Rnf181'
ID241807
Institutional Source Beutler Lab
Gene Symbol Rnf181
Ensembl Gene ENSMUSG00000055850
Gene Namering finger protein 181
Synonyms
MMRRC Submission 040253-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #R2253 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location72359714-72366956 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 72361484 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 14 (H14N)
Ref Sequence ENSEMBL: ENSMUSP00000138327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069580] [ENSMUST00000069595] [ENSMUST00000069695] [ENSMUST00000114095] [ENSMUST00000130064] [ENSMUST00000132243] [ENSMUST00000149296] [ENSMUST00000151063] [ENSMUST00000154098] [ENSMUST00000206064] [ENSMUST00000206531]
Predicted Effect probably benign
Transcript: ENSMUST00000069580
AA Change: H61N

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000066128
Gene: ENSMUSG00000055850
AA Change: H61N

DomainStartEndE-ValueType
RING 88 128 5.51e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069595
SMART Domains Protein: ENSMUSP00000070370
Gene: ENSMUSG00000055850

DomainStartEndE-ValueType
RING 20 60 5.51e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069695
SMART Domains Protein: ENSMUSP00000063977
Gene: ENSMUSG00000055912

DomainStartEndE-ValueType
Pfam:Frag1 3 232 3.8e-63 PFAM
low complexity region 251 259 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114095
AA Change: H61N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000109729
Gene: ENSMUSG00000055850
AA Change: H61N

DomainStartEndE-ValueType
RING 88 155 2.82e-4 SMART
low complexity region 185 196 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125554
Predicted Effect probably benign
Transcript: ENSMUST00000126065
Predicted Effect probably benign
Transcript: ENSMUST00000129233
Predicted Effect probably benign
Transcript: ENSMUST00000130064
SMART Domains Protein: ENSMUSP00000115187
Gene: ENSMUSG00000055850

DomainStartEndE-ValueType
RING 32 72 5.51e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132243
SMART Domains Protein: ENSMUSP00000138445
Gene: ENSMUSG00000055912

DomainStartEndE-ValueType
Pfam:Frag1 3 69 7.2e-12 PFAM
low complexity region 139 154 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136707
Predicted Effect probably benign
Transcript: ENSMUST00000149296
Predicted Effect probably benign
Transcript: ENSMUST00000151063
Predicted Effect possibly damaging
Transcript: ENSMUST00000154098
AA Change: H14N

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138327
Gene: ENSMUSG00000055850
AA Change: H14N

DomainStartEndE-ValueType
RING 41 81 5.51e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205399
Predicted Effect probably benign
Transcript: ENSMUST00000206064
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206319
Predicted Effect probably benign
Transcript: ENSMUST00000206531
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206821
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RNF181 binds the integrin alpha-IIb (ITGA2B; MIM 607759)/beta-3 (ITGB3; MIM 173470) complex and has E3 ubiquitin ligase activity (Brophy et al., 2008 [PubMed 18331836]).[supplied by OMIM, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,142,612 S79F probably damaging Het
Acss3 G A 10: 107,004,748 A384V probably damaging Het
Aff2 G A X: 69,834,803 E732K possibly damaging Het
Atp12a A G 14: 56,376,258 T496A probably benign Het
B3gnt3 A T 8: 71,692,818 M302K probably damaging Het
Bptf G T 11: 107,111,322 D321E probably damaging Het
C1ql3 C T 2: 13,010,319 V177I possibly damaging Het
C2cd5 A T 6: 143,036,316 Y607* probably null Het
Casp3 G T 8: 46,637,955 W214L probably damaging Het
Cd248 A G 19: 5,068,126 M1V probably null Het
Cdh18 A G 15: 23,410,805 T405A probably benign Het
Cldn24 G T 8: 47,822,328 R62S probably benign Het
Cnot1 A G 8: 95,763,186 V463A probably benign Het
Cul2 A T 18: 3,399,876 L3F probably damaging Het
Ep400 A T 5: 110,719,091 N1062K unknown Het
Gch1 T C 14: 47,189,341 probably benign Het
Gm4985 G A X: 23,958,711 A75V probably benign Het
Gzf1 T C 2: 148,683,936 M109T probably damaging Het
Itch T A 2: 155,212,339 M701K probably benign Het
Kank4 A T 4: 98,779,226 I328N probably damaging Het
Krt9 A T 11: 100,190,859 N281K possibly damaging Het
Lgals12 T A 19: 7,606,765 probably benign Het
Lrrc37a T C 11: 103,501,467 Q1044R probably benign Het
Mbtps2 A T X: 157,559,033 F270L probably benign Het
Nr3c1 G T 18: 39,486,751 T161K probably benign Het
Olfr1279 A G 2: 111,306,310 Y35C probably damaging Het
Olfr1471 T C 19: 13,445,185 Y58H probably damaging Het
Olfr317 T C 11: 58,732,995 T57A probably benign Het
Olfr988 A G 2: 85,353,858 S23P possibly damaging Het
Pla2g4d T C 2: 120,271,141 K453E probably damaging Het
Plcb2 T C 2: 118,723,765 N69S probably benign Het
Prl3d1 T C 13: 27,094,998 Y59H possibly damaging Het
Rnf133 T C 6: 23,649,175 M252V probably benign Het
Sash1 A T 10: 8,729,977 M883K probably benign Het
Secisbp2l C T 2: 125,740,737 G933D possibly damaging Het
Slc13a4 A G 6: 35,280,483 V240A probably benign Het
Slc2a5 T C 4: 150,139,990 Y315H possibly damaging Het
Slc7a2 T C 8: 40,905,621 Y334H probably benign Het
Spib A G 7: 44,529,968 S23P probably benign Het
Tbc1d1 A G 5: 64,284,800 N721S probably benign Het
Tcf25 A G 8: 123,374,033 E54G probably benign Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Uba7 A G 9: 107,976,364 H131R probably benign Het
Vmn2r6 C T 3: 64,559,718 C120Y probably damaging Het
Zdhhc18 A T 4: 133,633,077 probably null Het
Zfp970 T A 2: 177,474,821 probably null Het
Other mutations in Rnf181
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4754:Rnf181 UTSW 6 72360560 unclassified probably benign
R4852:Rnf181 UTSW 6 72361516 missense probably damaging 1.00
R5131:Rnf181 UTSW 6 72360828 splice site probably null
R5668:Rnf181 UTSW 6 72361522 start codon destroyed probably null 1.00
Predicted Primers PCR Primer
(F):5'- AGAGCAGTTAAGGCCCAAC -3'
(R):5'- AGGAGCTCTTGTGCACTATTC -3'

Sequencing Primer
(F):5'- AACACTAACAGGCCAGATTGTTG -3'
(R):5'- AGGACAGGTATTTCCCAG -3'
Posted On2014-10-16