Incidental Mutation 'IGL03382:Rnf41'
ID 420746
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf41
Ensembl Gene ENSMUSG00000025373
Gene Name ring finger protein 41
Synonyms 4933415P08Rik, Nrdp1, FLRF, 2210404G21Rik, 4930511A05Rik, D10Ertd722e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03382
Quality Score
Status
Chromosome 10
Chromosomal Location 128247526-128277310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 128274149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 267 (M267R)
Ref Sequence ENSEMBL: ENSMUSP00000132751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096386] [ENSMUST00000171342] [ENSMUST00000217826] [ENSMUST00000218371]
AlphaFold Q8BH75
Predicted Effect possibly damaging
Transcript: ENSMUST00000096386
AA Change: M267R

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100869
Gene: ENSMUSG00000025373
AA Change: M267R

DomainStartEndE-ValueType
RING 18 56 1.54e-5 SMART
Pfam:USP8_interact 137 315 5.1e-96 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157526
Predicted Effect possibly damaging
Transcript: ENSMUST00000171342
AA Change: M267R

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132751
Gene: ENSMUSG00000025373
AA Change: M267R

DomainStartEndE-ValueType
RING 18 56 1.54e-5 SMART
Pfam:USP8_interact 137 315 2.3e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217826
Predicted Effect probably benign
Transcript: ENSMUST00000218371
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E3 ubiquitin ligase. The encoded protein plays a role in type 1 cytokine receptor signaling by controlling the balance between JAK2-associated cytokine receptor degradation and ectodomain shedding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit male infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff1 A G 5: 103,988,926 (GRCm39) D831G possibly damaging Het
Amer2 A G 14: 60,617,331 (GRCm39) K509E possibly damaging Het
Ankrd6 T C 4: 32,808,771 (GRCm39) K449E probably damaging Het
Atp8b2 G A 3: 89,855,828 (GRCm39) P459L probably benign Het
Atr C T 9: 95,802,875 (GRCm39) R1846* probably null Het
Brd10 C T 19: 29,694,676 (GRCm39) G1606R probably damaging Het
Ccdc159 C A 9: 21,842,992 (GRCm39) probably null Het
Ccna1 A C 3: 54,954,698 (GRCm39) Y338D probably damaging Het
Cpq A T 15: 33,213,089 (GRCm39) E36V probably damaging Het
Cyp2c23 A G 19: 44,003,371 (GRCm39) I268T probably damaging Het
Dctn2 G T 10: 127,114,057 (GRCm39) Q332H probably damaging Het
Dnah17 T A 11: 117,972,769 (GRCm39) I2055F probably damaging Het
Dnmt3b A G 2: 153,528,279 (GRCm39) H764R probably damaging Het
Gphn T A 12: 78,528,087 (GRCm39) I135K probably damaging Het
Hnrnpul1 A G 7: 25,450,409 (GRCm39) M1T probably null Het
Htra4 T C 8: 25,519,714 (GRCm39) D406G probably benign Het
Klk10 G T 7: 43,433,883 (GRCm39) probably benign Het
Lilrb4a T A 10: 51,367,616 (GRCm39) W53R probably benign Het
Magel2 T C 7: 62,028,461 (GRCm39) V455A probably benign Het
Mrgprb5 T C 7: 47,818,442 (GRCm39) T98A probably benign Het
Mrps35 T A 6: 146,951,373 (GRCm39) C76* probably null Het
Myh7b C T 2: 155,465,399 (GRCm39) R701C probably damaging Het
Nbeal1 G A 1: 60,300,745 (GRCm39) probably null Het
Neb T A 2: 52,215,720 (GRCm39) M196L probably benign Het
Nmd3 A G 3: 69,642,421 (GRCm39) K207R probably damaging Het
Plxna4 C T 6: 32,179,129 (GRCm39) R962Q probably benign Het
Pom121 T C 5: 135,421,261 (GRCm39) K230E unknown Het
Psme4 A G 11: 30,757,788 (GRCm39) D307G possibly damaging Het
Sis T C 3: 72,836,052 (GRCm39) N846D probably benign Het
Slc22a19 T A 19: 7,659,227 (GRCm39) I463L probably benign Het
Slc25a39 A T 11: 102,297,030 (GRCm39) probably null Het
Slc35b2 C T 17: 45,877,571 (GRCm39) R233C probably damaging Het
Slc4a4 T C 5: 89,376,695 (GRCm39) L983P probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Tbc1d10a A G 11: 4,159,984 (GRCm39) Y123C probably damaging Het
Thbs4 A C 13: 92,906,056 (GRCm39) I395S probably benign Het
Triml2 A G 8: 43,646,776 (GRCm39) T422A probably benign Het
Ubn2 T C 6: 38,417,382 (GRCm39) probably benign Het
Vmn1r15 T A 6: 57,235,555 (GRCm39) M141K probably benign Het
Vmn2r80 A G 10: 79,005,362 (GRCm39) E333G probably damaging Het
Zfp169 T C 13: 48,644,639 (GRCm39) probably benign Het
Zfp942 G A 17: 22,148,083 (GRCm39) P182L probably benign Het
Other mutations in Rnf41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01885:Rnf41 APN 10 128,271,344 (GRCm39) missense probably damaging 1.00
IGL02245:Rnf41 APN 10 128,273,196 (GRCm39) makesense probably null
R0158:Rnf41 UTSW 10 128,274,104 (GRCm39) missense probably damaging 1.00
R1163:Rnf41 UTSW 10 128,274,076 (GRCm39) missense probably benign
R1396:Rnf41 UTSW 10 128,271,440 (GRCm39) missense probably benign
R1690:Rnf41 UTSW 10 128,271,329 (GRCm39) missense possibly damaging 0.70
R2860:Rnf41 UTSW 10 128,274,023 (GRCm39) missense possibly damaging 0.85
R2861:Rnf41 UTSW 10 128,274,023 (GRCm39) missense possibly damaging 0.85
R2862:Rnf41 UTSW 10 128,274,023 (GRCm39) missense possibly damaging 0.85
R4382:Rnf41 UTSW 10 128,272,392 (GRCm39) missense probably benign 0.33
R7477:Rnf41 UTSW 10 128,271,303 (GRCm39) missense probably damaging 0.99
R7492:Rnf41 UTSW 10 128,274,283 (GRCm39) missense probably damaging 1.00
R8524:Rnf41 UTSW 10 128,271,299 (GRCm39) missense possibly damaging 0.93
R8560:Rnf41 UTSW 10 128,274,222 (GRCm39) nonsense probably null
R8691:Rnf41 UTSW 10 128,274,077 (GRCm39) missense probably benign 0.24
R9150:Rnf41 UTSW 10 128,272,399 (GRCm39) missense
R9515:Rnf41 UTSW 10 128,274,299 (GRCm39) missense probably benign 0.00
RF015:Rnf41 UTSW 10 128,271,279 (GRCm39) missense probably benign 0.12
X0021:Rnf41 UTSW 10 128,273,264 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02