Incidental Mutation 'IGL01885:Rnf41'
ID 179088
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf41
Ensembl Gene ENSMUSG00000025373
Gene Name ring finger protein 41
Synonyms FLRF, Nrdp1, 4930511A05Rik, D10Ertd722e, 2210404G21Rik, 4933415P08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01885
Quality Score
Status
Chromosome 10
Chromosomal Location 128411657-128441441 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128435475 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 85 (N85Y)
Ref Sequence ENSEMBL: ENSMUSP00000132751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096386] [ENSMUST00000171342] [ENSMUST00000217826] [ENSMUST00000218371]
AlphaFold Q8BH75
Predicted Effect probably damaging
Transcript: ENSMUST00000096386
AA Change: N85Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100869
Gene: ENSMUSG00000025373
AA Change: N85Y

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: N85Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132751
Gene: ENSMUSG00000025373
AA Change: N85Y

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars T C 8: 111,047,943 V568A possibly damaging Het
Abcb11 T A 2: 69,287,627 Q469L probably damaging Het
Ahsg G A 16: 22,898,981 G264E probably damaging Het
Ankar T C 1: 72,658,703 Y788C probably damaging Het
Birc6 T A 17: 74,604,516 F1508I possibly damaging Het
Cd6 C A 19: 10,799,237 Q141H probably benign Het
Cercam A C 2: 29,881,003 T471P probably damaging Het
Cux1 T C 5: 136,308,447 D729G possibly damaging Het
Dglucy T A 12: 100,850,281 F394Y probably damaging Het
E130308A19Rik A G 4: 59,720,004 N512S probably benign Het
Ephb4 T C 5: 137,357,797 C223R probably damaging Het
Gcn1l1 T A 5: 115,576,115 probably null Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hirip3 T A 7: 126,864,209 S446T probably benign Het
Hoxa5 A T 6: 52,202,667 F243I probably damaging Het
Iars T C 13: 49,691,499 V162A probably benign Het
Lama2 G A 10: 27,105,139 R1840* probably null Het
Lbp T A 2: 158,324,573 L349Q probably damaging Het
Lrp4 T C 2: 91,501,107 I1604T probably benign Het
Mapk10 T C 5: 102,996,589 K121E probably damaging Het
Nav3 T A 10: 109,742,660 R1579* probably null Het
Obscn T C 11: 59,074,968 D652G possibly damaging Het
Olfr1472 G A 19: 13,454,085 T144I probably benign Het
Olfr417 A G 1: 174,369,401 I161M probably damaging Het
Olfr849 A G 9: 19,441,464 I184V probably benign Het
Ostm1 C T 10: 42,698,151 S280L possibly damaging Het
Peak1 C T 9: 56,260,104 R180K probably damaging Het
Plcz1 T C 6: 140,002,111 Y515C probably benign Het
Postn T C 3: 54,376,034 probably benign Het
Ptchd4 C T 17: 42,503,602 T798I probably damaging Het
Shisa7 A T 7: 4,830,826 H323Q probably damaging Het
Slco2a1 T A 9: 103,074,430 M386K probably damaging Het
St18 G A 1: 6,844,372 probably null Het
Stra6 T A 9: 58,141,148 L175M probably damaging Het
Tmem67 A G 4: 12,057,389 L600P probably damaging Het
Try5 G T 6: 41,311,738 N182K possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo7 G A 14: 70,666,035 T1078I probably benign Het
Zan G A 5: 137,464,124 T931I unknown Het
Other mutations in Rnf41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02245:Rnf41 APN 10 128437327 makesense probably null
IGL03382:Rnf41 APN 10 128438280 missense possibly damaging 0.91
R0158:Rnf41 UTSW 10 128438235 missense probably damaging 1.00
R1163:Rnf41 UTSW 10 128438207 missense probably benign
R1396:Rnf41 UTSW 10 128435571 missense probably benign
R1690:Rnf41 UTSW 10 128435460 missense possibly damaging 0.70
R2860:Rnf41 UTSW 10 128438154 missense possibly damaging 0.85
R2861:Rnf41 UTSW 10 128438154 missense possibly damaging 0.85
R2862:Rnf41 UTSW 10 128438154 missense possibly damaging 0.85
R4382:Rnf41 UTSW 10 128436523 missense probably benign 0.33
R7477:Rnf41 UTSW 10 128435434 missense probably damaging 0.99
R7492:Rnf41 UTSW 10 128438414 missense probably damaging 1.00
R8524:Rnf41 UTSW 10 128435430 missense possibly damaging 0.93
R8560:Rnf41 UTSW 10 128438353 nonsense probably null
R8691:Rnf41 UTSW 10 128438208 missense probably benign 0.24
R9150:Rnf41 UTSW 10 128436530 missense
R9515:Rnf41 UTSW 10 128438430 missense probably benign 0.00
RF015:Rnf41 UTSW 10 128435410 missense probably benign 0.12
X0021:Rnf41 UTSW 10 128437395 missense probably benign 0.00
Posted On 2014-05-07