Incidental Mutation 'R2862:Rnf41'
ID 252944
Institutional Source Beutler Lab
Gene Symbol Rnf41
Ensembl Gene ENSMUSG00000025373
Gene Name ring finger protein 41
Synonyms 4933415P08Rik, Nrdp1, FLRF, 2210404G21Rik, 4930511A05Rik, D10Ertd722e
MMRRC Submission 040452-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2862 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 128247526-128277310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128274023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 225 (L225P)
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: L225P

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100869
Gene: ENSMUSG00000025373
AA Change: L225P

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: L225P

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132751
Gene: ENSMUSG00000025373
AA Change: L225P

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
Meta Mutation Damage Score 0.9432 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,259,057 (GRCm39) S2928G probably damaging Het
Abcd1 T A X: 72,781,064 (GRCm39) L713H probably damaging Het
Actg1 T C 11: 120,237,627 (GRCm39) I52V probably benign Het
Ahi1 T A 10: 20,857,307 (GRCm39) V634E probably damaging Het
Ang G T 14: 51,339,275 (GRCm39) D139Y probably damaging Het
Apoe T C 7: 19,431,479 (GRCm39) Y46C probably damaging Het
Aqr A T 2: 113,967,398 (GRCm39) V539D probably damaging Het
Btg3 A G 16: 78,161,868 (GRCm39) V114A probably damaging Het
Cap1 A T 4: 122,758,518 (GRCm39) S221T probably benign Het
Ccdc121 G A 5: 31,643,255 (GRCm39) probably benign Het
Cdca2 T C 14: 67,935,539 (GRCm39) E392G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col22a1 A G 15: 71,687,792 (GRCm39) probably null Het
Cyp2c38 G A 19: 39,449,138 (GRCm39) R72W probably benign Het
Dnah1 C T 14: 31,006,719 (GRCm39) G2199S probably benign Het
Dnhd1 A G 7: 105,361,766 (GRCm39) E3608G probably benign Het
Ears2 A T 7: 121,662,163 (GRCm39) L95Q probably damaging Het
F5 A T 1: 164,012,533 (GRCm39) K482N probably damaging Het
Gata5 C T 2: 179,976,129 (GRCm39) G12S possibly damaging Het
Gm11938 C A 11: 99,493,972 (GRCm39) R41L probably damaging Het
Grap2 A T 15: 80,532,165 (GRCm39) Q260L probably damaging Het
Greb1 A G 12: 16,761,746 (GRCm39) S545P probably benign Het
Iglc1 T C 16: 18,880,660 (GRCm39) probably benign Het
Il18r1 T C 1: 40,537,717 (GRCm39) V494A possibly damaging Het
Kdf1 G A 4: 133,255,852 (GRCm39) E190K probably damaging Het
Lama2 G A 10: 27,298,608 (GRCm39) Q163* probably null Het
Lama3 G T 18: 12,586,807 (GRCm39) L723F probably damaging Het
Lamp5 A T 2: 135,900,866 (GRCm39) H22L probably benign Het
Maged1 G A X: 93,582,530 (GRCm39) P366S probably damaging Het
Med14 A G X: 12,585,936 (GRCm39) I521T probably benign Het
Mia2 A G 12: 59,201,196 (GRCm39) K841E probably damaging Het
Mrgbp G A 2: 180,225,203 (GRCm39) R53Q possibly damaging Het
Mrps18b G A 17: 36,221,746 (GRCm39) S101L probably benign Het
Nmnat2 G A 1: 152,988,171 (GRCm39) V267I probably benign Het
Noc2l A G 4: 156,321,907 (GRCm39) D102G probably benign Het
Ntn1 T C 11: 68,276,690 (GRCm39) E86G probably benign Het
Opn4 A G 14: 34,315,785 (GRCm39) probably null Het
Or2d2b T A 7: 106,705,675 (GRCm39) H131L probably benign Het
Or4c109 A T 2: 88,817,664 (GRCm39) I294K probably benign Het
Or52n1 A G 7: 104,383,425 (GRCm39) F49L probably benign Het
Or6k6 A G 1: 173,945,298 (GRCm39) Y95H probably damaging Het
Pate3 T A 9: 35,559,415 (GRCm39) M1L possibly damaging Het
Pex2 A G 3: 5,626,240 (GRCm39) Y190H probably damaging Het
Pkhd1l1 A C 15: 44,404,267 (GRCm39) T2299P probably damaging Het
Ppp6r3 A C 19: 3,571,782 (GRCm39) S122R possibly damaging Het
Pwwp3b G A X: 138,137,429 (GRCm39) G656S possibly damaging Het
Rnf113a1 A G X: 36,455,736 (GRCm39) E231G probably damaging Het
Rreb1 G C 13: 38,116,429 (GRCm39) A1263P probably benign Het
Rxfp1 A G 3: 79,589,778 (GRCm39) V121A possibly damaging Het
Slc35e4 A T 11: 3,862,796 (GRCm39) V131D probably damaging Het
Smyd4 T A 11: 75,280,962 (GRCm39) M145K probably benign Het
Snx13 T A 12: 35,188,116 (GRCm39) I798N probably benign Het
Srgap3 A T 6: 112,699,933 (GRCm39) F1015Y probably damaging Het
Synj1 T C 16: 90,766,217 (GRCm39) Y567C probably damaging Het
Tbc1d8 G A 1: 39,441,777 (GRCm39) Q272* probably null Het
Tinf2 T C 14: 55,918,088 (GRCm39) D127G probably damaging Het
Ube2v1 G A 2: 167,459,885 (GRCm39) P39L probably damaging Het
Vegfd A G X: 163,168,879 (GRCm39) E57G probably damaging Het
Vmn2r72 A T 7: 85,400,044 (GRCm39) I335N probably damaging Het
Zc3h6 A G 2: 128,857,380 (GRCm39) H633R 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
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
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
Predicted Primers PCR Primer
(F):5'- GTTTTCTGGACCAATGCTAGTAAG -3'
(R):5'- TGGTTCTCACAGGCCATCAC -3'

Sequencing Primer
(F):5'- TCTGGACCAATGCTAGTAAGAAAGTC -3'
(R):5'- ACTACAGCCTGCTTGCCAG -3'
Posted On 2014-12-04