Incidental Mutation 'IGL02245:Rnf41'
ID 286146
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 # IGL02245
Quality Score
Status
Chromosome 10
Chromosomal Location 128247526-128277310 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to G at 128273196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glycine at position 123 (*123G)
Ref Sequence ENSEMBL: ENSMUSP00000151889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096386] [ENSMUST00000171342] [ENSMUST00000217826] [ENSMUST00000218371]
AlphaFold Q8BH75
Predicted Effect probably damaging
Transcript: ENSMUST00000096386
AA Change: L173R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100869
Gene: ENSMUSG00000025373
AA Change: L173R

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 probably damaging
Transcript: ENSMUST00000171342
AA Change: L173R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132751
Gene: ENSMUSG00000025373
AA Change: L173R

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 null
Transcript: ENSMUST00000218371
AA Change: *123G
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,381,772 (GRCm39) I1398V probably benign Het
Abca5 G A 11: 110,188,995 (GRCm39) Q821* probably null Het
Bcl9 A T 3: 97,116,009 (GRCm39) L895Q probably damaging Het
Cpne7 A G 8: 123,844,357 (GRCm39) D41G probably damaging Het
Daxx A G 17: 34,131,351 (GRCm39) probably benign Het
Dbx2 A G 15: 95,522,628 (GRCm39) Y360H probably damaging Het
Dpy19l2 T C 9: 24,607,321 (GRCm39) T47A probably benign Het
Ephb3 T C 16: 21,040,174 (GRCm39) V512A probably benign Het
Exoc2 T C 13: 31,090,842 (GRCm39) D254G probably benign Het
Gtpbp1 G T 15: 79,575,127 (GRCm39) R7L probably benign Het
Gucy2c A T 6: 136,706,201 (GRCm39) I500N probably benign Het
H2ac6 A T 13: 23,867,783 (GRCm39) Y40N probably damaging Het
H2ac6 G T 13: 23,867,784 (GRCm39) N39K possibly damaging Het
Hormad2 T C 11: 4,358,580 (GRCm39) probably benign Het
Impg2 A G 16: 56,089,445 (GRCm39) Q1130R probably damaging Het
Itga4 T A 2: 79,150,903 (GRCm39) D836E probably benign Het
Loxhd1 A T 18: 77,427,797 (GRCm39) T456S possibly damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Map1b T C 13: 99,568,036 (GRCm39) T1562A unknown Het
Mre11a C T 9: 14,726,572 (GRCm39) probably benign Het
Myh1 A C 11: 67,102,313 (GRCm39) E868A possibly damaging Het
Nlrp4e T G 7: 23,020,300 (GRCm39) S262R probably damaging Het
Nlrp9a C T 7: 26,257,318 (GRCm39) T223I probably benign Het
Nosip A G 7: 44,723,466 (GRCm39) D44G probably benign Het
Nr6a1 C T 2: 38,630,565 (GRCm39) M217I probably benign Het
Numa1 A G 7: 101,649,601 (GRCm39) T1111A probably benign Het
Or6c6c T A 10: 129,541,608 (GRCm39) I287N probably damaging Het
Pms1 A G 1: 53,246,519 (GRCm39) L340P probably damaging Het
Prmt7 T C 8: 106,963,937 (GRCm39) V277A probably benign Het
Pxmp4 T C 2: 154,429,870 (GRCm39) Y173C probably damaging Het
Rbm11 G T 16: 75,389,896 (GRCm39) V21L possibly damaging Het
Rims1 A G 1: 22,416,712 (GRCm39) S1123P probably damaging Het
Rnf220 C T 4: 117,156,734 (GRCm39) probably benign Het
Samhd1 C T 2: 156,952,475 (GRCm39) D426N possibly damaging Het
Scn10a A G 9: 119,501,218 (GRCm39) W189R probably damaging Het
Slco1a6 A G 6: 142,055,150 (GRCm39) F265L probably damaging Het
Spag16 A G 1: 69,897,661 (GRCm39) D137G probably benign Het
Srsf12 G A 4: 33,209,103 (GRCm39) probably benign Het
Suclg2 A G 6: 95,572,722 (GRCm39) I81T possibly damaging Het
Tmc1 C T 19: 20,776,556 (GRCm39) R601H probably damaging Het
Trim33 T C 3: 103,254,086 (GRCm39) probably null Het
Vit A G 17: 78,932,480 (GRCm39) D529G probably damaging Het
Wbp1l C T 19: 46,643,057 (GRCm39) H353Y possibly damaging Het
Wdr70 A T 15: 8,075,965 (GRCm39) V170D possibly damaging Het
Ythdc2 T A 18: 44,995,751 (GRCm39) I947N possibly damaging Het
Zfp280b T C 10: 75,875,197 (GRCm39) S359P probably benign Het
Zfp936 T C 7: 42,836,722 (GRCm39) probably null Het
Zscan4d T A 7: 10,896,716 (GRCm39) Y218F probably benign Het
Other mutations in Rnf41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01885:Rnf41 APN 10 128,271,344 (GRCm39) missense probably damaging 1.00
IGL03382:Rnf41 APN 10 128,274,149 (GRCm39) missense possibly damaging 0.91
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 2015-04-16