Incidental Mutation 'R4869:Rnf141'
ID 376409
Institutional Source Beutler Lab
Gene Symbol Rnf141
Ensembl Gene ENSMUSG00000030788
Gene Name ring finger protein 141
Synonyms ZFP36, ZNF230, 2610110L04Rik
MMRRC Submission 042479-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R4869 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 110399639-110443664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110424557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 101 (Y101H)
Ref Sequence ENSEMBL: ENSMUSP00000134917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106682] [ENSMUST00000175981] [ENSMUST00000176716] [ENSMUST00000176746] [ENSMUST00000177462] [ENSMUST00000177236]
AlphaFold Q99MB7
Predicted Effect probably damaging
Transcript: ENSMUST00000106682
AA Change: Y101H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102293
Gene: ENSMUSG00000030788
AA Change: Y101H

DomainStartEndE-ValueType
RING 155 191 3.39e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175648
Predicted Effect probably damaging
Transcript: ENSMUST00000175981
AA Change: Y4H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000135123
Gene: ENSMUSG00000030788
AA Change: Y4H

DomainStartEndE-ValueType
RING 58 94 3.39e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176048
Predicted Effect probably benign
Transcript: ENSMUST00000176210
Predicted Effect probably benign
Transcript: ENSMUST00000176716
Predicted Effect possibly damaging
Transcript: ENSMUST00000176746
AA Change: Y4H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000177462
AA Change: Y101H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134917
Gene: ENSMUSG00000030788
AA Change: Y101H

DomainStartEndE-ValueType
PDB:2ECN|A 144 180 3e-21 PDB
SCOP:d1fbva4 146 180 3e-7 SMART
Blast:RING 155 180 6e-12 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000177236
AA Change: Y101H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134781
Gene: ENSMUSG00000030788
AA Change: Y101H

DomainStartEndE-ValueType
RING 155 191 3.39e-7 SMART
Meta Mutation Damage Score 0.3119 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 99% (102/103)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. Abundant expression of this gene was found in the testicular tissue of fertile men, but was not detected in azoospermic patients. Studies of the mouse counterpart suggest that this gene may function as a testis specific transcription factor during spermatogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit decreased litter size but normal spermatogeness and testes weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,161,488 (GRCm39) K943N probably damaging Het
Abca13 G A 11: 9,265,434 (GRCm39) probably null Het
Ankub1 A G 3: 57,597,751 (GRCm39) L73P probably damaging Het
Birc6 A G 17: 74,893,007 (GRCm39) I982V probably benign Het
Cabyr G T 18: 12,884,875 (GRCm39) *454L probably null Het
Ccdc57 C T 11: 120,794,344 (GRCm39) probably null Het
Cd209c A G 8: 3,994,077 (GRCm39) F128L probably benign Het
Cdh23 A T 10: 60,212,713 (GRCm39) I1566N probably damaging Het
Cdon T C 9: 35,364,200 (GRCm39) V106A possibly damaging Het
Cebpa G T 7: 34,819,246 (GRCm39) G135C probably damaging Het
Cfap65 A G 1: 74,958,420 (GRCm39) S896P probably benign Het
Ciz1 T C 2: 32,254,247 (GRCm39) S63P probably damaging Het
Clybl G A 14: 122,621,618 (GRCm39) V269M probably damaging Het
Ctnnb1 G T 9: 120,782,060 (GRCm39) V358L possibly damaging Het
Cwh43 G T 5: 73,586,016 (GRCm39) probably null Het
Cyp2d10 G A 15: 82,287,967 (GRCm39) R379C probably benign Het
Dab2ip C A 2: 35,610,049 (GRCm39) R727S probably damaging Het
Dmrt1 T A 19: 25,483,219 (GRCm39) M1K probably null Het
Dock1 A T 7: 134,335,800 (GRCm39) I65F probably damaging Het
Ercc2 T C 7: 19,120,732 (GRCm39) V155A probably damaging Het
Exph5 A C 9: 53,287,539 (GRCm39) D1540A possibly damaging Het
Fat3 T A 9: 16,288,773 (GRCm39) H250L probably damaging Het
Fbxw10 C A 11: 62,753,557 (GRCm39) A517E probably damaging Het
Furin A T 7: 80,046,727 (GRCm39) N176K probably damaging Het
Gabrb3 A G 7: 57,442,207 (GRCm39) probably benign Het
Gabrg2 A T 11: 41,811,231 (GRCm39) S305T probably damaging Het
Gas6 G T 8: 13,525,086 (GRCm39) S299R possibly damaging Het
Gga3 G T 11: 115,477,111 (GRCm39) probably benign Het
Gle1 A G 2: 29,826,032 (GRCm39) E37G possibly damaging Het
Gm7964 A G 7: 83,405,350 (GRCm39) D80G possibly damaging Het
Gne C T 4: 44,055,204 (GRCm39) probably null Het
Grid2 G T 6: 64,406,724 (GRCm39) G695W probably damaging Het
H2-M10.6 A T 17: 37,123,425 (GRCm39) M40L probably benign Het
Hectd4 G T 5: 121,460,735 (GRCm39) V905L possibly damaging Het
Isyna1 C A 8: 71,049,412 (GRCm39) S441R possibly damaging Het
Kcnh3 C T 15: 99,139,913 (GRCm39) S933L probably benign Het
Knl1 T C 2: 118,902,832 (GRCm39) I1511T possibly damaging Het
Krt73 T C 15: 101,704,833 (GRCm39) E351G probably damaging Het
Lipo4 C T 19: 33,478,953 (GRCm39) probably null Het
Llgl1 T A 11: 60,598,036 (GRCm39) L360* probably null Het
Map2k5 G A 9: 63,229,525 (GRCm39) R169* probably null Het
Muc19 A T 15: 91,781,910 (GRCm39) noncoding transcript Het
Muc4 G A 16: 32,754,836 (GRCm38) probably benign Het
Myh4 A G 11: 67,143,490 (GRCm39) E1074G probably damaging Het
Naip5 C T 13: 100,381,639 (GRCm39) G210E probably damaging Het
Nalcn A G 14: 123,837,296 (GRCm39) S23P probably benign Het
Nepro T A 16: 44,550,536 (GRCm39) M176K probably damaging Het
Nlrp6 G A 7: 140,504,006 (GRCm39) C704Y probably damaging Het
Notch1 A G 2: 26,361,191 (GRCm39) S1100P probably benign Het
Nrxn3 A G 12: 88,762,352 (GRCm39) E133G possibly damaging Het
Obi1 A G 14: 104,716,252 (GRCm39) I707T probably damaging Het
Parp9 T C 16: 35,777,274 (GRCm39) L406S probably damaging Het
Peak1 G T 9: 56,134,876 (GRCm39) A155D probably benign Het
Piezo1 G A 8: 123,214,284 (GRCm39) H1628Y probably benign Het
Piwil2 A G 14: 70,632,811 (GRCm39) V587A probably benign Het
Pkn2 A G 3: 142,509,379 (GRCm39) Y722H probably damaging Het
Plch2 A T 4: 155,073,885 (GRCm39) I834K probably benign Het
Pld1 A G 3: 28,163,951 (GRCm39) T795A possibly damaging Het
Plekhh1 A G 12: 79,097,160 (GRCm39) S103G probably benign Het
Ppl T C 16: 4,922,753 (GRCm39) Y246C probably damaging Het
Prpf40b G A 15: 99,207,726 (GRCm39) probably benign Het
Prr14l A G 5: 32,986,177 (GRCm39) L1106P probably damaging Het
Ptbp3 T A 4: 59,524,443 (GRCm39) I28F possibly damaging Het
Ptrh2 A T 11: 86,580,631 (GRCm39) K83* probably null Het
Rai1 T C 11: 60,077,588 (GRCm39) S551P probably damaging Het
Rapgefl1 A T 11: 98,741,935 (GRCm39) Q633L probably damaging Het
Rb1cc1 T C 1: 6,285,245 (GRCm39) probably benign Het
Rif1 T A 2: 51,983,623 (GRCm39) probably benign Het
Rttn T A 18: 89,061,138 (GRCm39) L1102* probably null Het
Sall4 G A 2: 168,597,637 (GRCm39) S401F probably damaging Het
Saxo5 G A 8: 3,537,148 (GRCm39) S498N probably damaging Het
Sec11c T C 18: 65,934,541 (GRCm39) I36T probably benign Het
Sel1l A G 12: 91,780,828 (GRCm39) probably benign Het
Setd1a T C 7: 127,396,776 (GRCm39) probably benign Het
Sez6l2 C T 7: 126,561,014 (GRCm39) P433L probably benign Het
Sgf29 T C 7: 126,248,547 (GRCm39) probably benign Het
Slc47a1 A G 11: 61,253,520 (GRCm39) V305A probably benign Het
Slco1a8 T C 6: 141,933,492 (GRCm39) D431G probably damaging Het
Sun2 T C 15: 79,612,587 (GRCm39) probably benign Het
Tecta T C 9: 42,286,830 (GRCm39) S609G probably benign Het
Tmprss6 T A 15: 78,327,880 (GRCm39) probably null Het
Tns1 T C 1: 73,991,774 (GRCm39) H968R probably benign Het
Tomm34 G A 2: 163,896,637 (GRCm39) A270V probably damaging Het
Tpo T C 12: 30,153,364 (GRCm39) K330R probably benign Het
Ttn T A 2: 76,542,837 (GRCm39) Y33383F probably damaging Het
Unc13c G T 9: 73,587,716 (GRCm39) A1439D probably benign Het
Vcp C T 4: 42,993,691 (GRCm39) R147H probably benign Het
Vps13d A G 4: 144,854,612 (GRCm39) L2272P probably damaging Het
Wdfy3 A G 5: 102,042,787 (GRCm39) L1988P probably damaging Het
Wwc2 A G 8: 48,373,713 (GRCm39) F51S probably damaging Het
Zfp454 C T 11: 50,763,980 (GRCm39) C373Y probably damaging Het
Zfp853 A T 5: 143,274,048 (GRCm39) V473E probably damaging Het
Zfp959 A T 17: 56,204,228 (GRCm39) R85S possibly damaging Het
Other mutations in Rnf141
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Rnf141 APN 7 110,432,941 (GRCm39) unclassified probably benign
IGL02246:Rnf141 APN 7 110,424,494 (GRCm39) missense probably benign
IGL02336:Rnf141 APN 7 110,436,405 (GRCm39) nonsense probably null
R0482:Rnf141 UTSW 7 110,436,345 (GRCm39) nonsense probably null
R1324:Rnf141 UTSW 7 110,416,050 (GRCm39) nonsense probably null
R1718:Rnf141 UTSW 7 110,420,480 (GRCm39) missense probably damaging 1.00
R2067:Rnf141 UTSW 7 110,420,572 (GRCm39) splice site probably benign
R4151:Rnf141 UTSW 7 110,436,406 (GRCm39) missense probably benign 0.19
R4867:Rnf141 UTSW 7 110,415,975 (GRCm39) missense probably damaging 1.00
R4947:Rnf141 UTSW 7 110,424,527 (GRCm39) missense possibly damaging 0.66
R5320:Rnf141 UTSW 7 110,433,010 (GRCm39) missense probably damaging 1.00
R6364:Rnf141 UTSW 7 110,420,516 (GRCm39) missense possibly damaging 0.75
R8219:Rnf141 UTSW 7 110,436,472 (GRCm39) start gained probably benign
R8492:Rnf141 UTSW 7 110,436,407 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- AACTGACGGGGTCATAGAGC -3'
(R):5'- TCTCTGATGAACCGCACAAC -3'

Sequencing Primer
(F):5'- AAGGTGTACTATGATCTTAGCGC -3'
(R):5'- TCTGATGAACCGCACAACTGAAG -3'
Posted On 2016-03-17