Incidental Mutation 'IGL02246:Rnf141'
ID 286197
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf141
Ensembl Gene ENSMUSG00000030788
Gene Name ring finger protein 141
Synonyms ZFP36, ZNF230, 2610110L04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # IGL02246
Quality Score
Status
Chromosome 7
Chromosomal Location 110399639-110443664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110424494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 122 (S122T)
Ref Sequence ENSEMBL: ENSMUSP00000134917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106682] [ENSMUST00000175981] [ENSMUST00000176716] [ENSMUST00000176746] [ENSMUST00000177462] [ENSMUST00000177236]
AlphaFold Q99MB7
Predicted Effect probably benign
Transcript: ENSMUST00000106682
AA Change: S122T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102293
Gene: ENSMUSG00000030788
AA Change: S122T

DomainStartEndE-ValueType
RING 155 191 3.39e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175648
Predicted Effect probably benign
Transcript: ENSMUST00000175981
AA Change: S25T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135123
Gene: ENSMUSG00000030788
AA Change: S25T

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 probably benign
Transcript: ENSMUST00000176746
Predicted Effect probably benign
Transcript: ENSMUST00000177462
AA Change: S122T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134917
Gene: ENSMUSG00000030788
AA Change: S122T

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 benign
Transcript: ENSMUST00000177236
AA Change: S122T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134781
Gene: ENSMUSG00000030788
AA Change: S122T

DomainStartEndE-ValueType
RING 155 191 3.39e-7 SMART
Coding Region Coverage
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik G T 4: 123,754,655 (GRCm39) D190Y probably damaging Het
Acat1 G A 9: 53,496,166 (GRCm39) L324F probably benign Het
Ago2 T C 15: 72,980,267 (GRCm39) H743R probably damaging Het
Ahnak A T 19: 8,985,632 (GRCm39) L2305F probably damaging Het
Ankhd1 T A 18: 36,789,779 (GRCm39) H2438Q probably damaging Het
Atm G T 9: 53,438,485 (GRCm39) Q162K probably benign Het
Bpifa6 A T 2: 153,831,196 (GRCm39) E254V probably damaging Het
Carns1 T A 19: 4,216,431 (GRCm39) N584Y possibly damaging Het
Cmklr1 T C 5: 113,752,461 (GRCm39) N180S probably benign Het
Col6a5 G A 9: 105,788,306 (GRCm39) R1565* probably null Het
Fbxo43 T A 15: 36,162,842 (GRCm39) I122L probably benign Het
Fibp A G 19: 5,513,264 (GRCm39) Y193C probably damaging Het
Gm10923 A G 15: 85,001,132 (GRCm39) probably benign Het
Il12rb2 A G 6: 67,285,940 (GRCm39) probably null Het
Jakmip2 T C 18: 43,700,223 (GRCm39) E445G possibly damaging Het
Krcc1 G A 6: 71,261,405 (GRCm39) D146N probably benign Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Map2k5 A T 9: 63,284,411 (GRCm39) D43E probably benign Het
Nup155 A G 15: 8,172,486 (GRCm39) K824R probably benign Het
Or2o1 T C 11: 49,050,921 (GRCm39) S27P probably benign Het
Or51g2 T C 7: 102,622,951 (GRCm39) T83A possibly damaging Het
Phkg1 G A 5: 129,893,479 (GRCm39) R324W probably damaging Het
Plcd1 G A 9: 118,901,677 (GRCm39) L616F probably benign Het
Tap1 G A 17: 34,412,963 (GRCm39) V593M probably benign Het
Ticrr T C 7: 79,325,076 (GRCm39) L534P probably damaging Het
Ubr4 G T 4: 139,186,414 (GRCm39) E640D possibly damaging Het
Vmn1r169 A C 7: 23,276,661 (GRCm39) I18L probably benign Het
Other mutations in Rnf141
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Rnf141 APN 7 110,432,941 (GRCm39) unclassified 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
R4869:Rnf141 UTSW 7 110,424,557 (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
Posted On 2015-04-16