Incidental Mutation 'R4087:Rnf144a'
ID 317427
Institutional Source Beutler Lab
Gene Symbol Rnf144a
Ensembl Gene ENSMUSG00000020642
Gene Name ring finger protein 144A
Synonyms UIP4, Rnf144
MMRRC Submission 040980-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4087 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 26356796-26465296 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 26377591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 51 (V51I)
Ref Sequence ENSEMBL: ENSMUSP00000152807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020971] [ENSMUST00000062149] [ENSMUST00000222082]
AlphaFold Q925F3
Predicted Effect probably damaging
Transcript: ENSMUST00000020971
AA Change: V51I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020971
Gene: ENSMUSG00000020642
AA Change: V51I

DomainStartEndE-ValueType
RING 20 68 2.17e-1 SMART
IBR 91 156 6.4e-19 SMART
IBR 168 232 9.16e-1 SMART
RING 185 280 1.58e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000062149
AA Change: V51I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000056073
Gene: ENSMUSG00000020642
AA Change: V51I

DomainStartEndE-ValueType
RING 20 68 2.17e-1 SMART
IBR 91 156 6.4e-19 SMART
IBR 168 232 9.16e-1 SMART
RING 185 280 1.58e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000222082
AA Change: V51I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.0631 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 96% (50/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of RING finger domain-containing E3 ubiquitin ligases that also includes parkin and parc. The expression of this gene is induced by DNA damage. The encoded protein interacts with the cytoplasmic DNA-dependent protein kinase, catalytic subunit (DNA-PKcs) and promotes its degradation through ubiquitination. The orthologous mouse protein has been shown to interact with a ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq, Mar 2017]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,473,678 (GRCm39) S80P probably damaging Het
Acss3 T G 10: 106,889,313 (GRCm39) Y169S probably damaging Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Cldn34c4 A T X: 126,629,011 (GRCm39) V153E probably damaging Het
Col4a4 T A 1: 82,501,643 (GRCm39) Y370F unknown Het
Col6a6 A T 9: 105,661,155 (GRCm39) I318N possibly damaging Het
Csmd1 T A 8: 16,042,738 (GRCm39) I2332F probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Dym T A 18: 75,363,172 (GRCm39) Y559N probably damaging Het
Eif3g A G 9: 20,809,248 (GRCm39) V59A possibly damaging Het
Fam171a1 G A 2: 3,227,333 (GRCm39) R697Q probably damaging Het
Fermt3 T A 19: 6,980,945 (GRCm39) probably null Het
Git2 A G 5: 114,902,466 (GRCm39) Y189H probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm7713 C T 15: 59,866,258 (GRCm39) noncoding transcript Het
Gpr108 A G 17: 57,544,925 (GRCm39) Y313H probably damaging Het
Itprid2 C T 2: 79,488,691 (GRCm39) Q925* probably null Het
Kcnh8 T C 17: 53,110,428 (GRCm39) I213T possibly damaging Het
Lpgat1 A T 1: 191,495,728 (GRCm39) I306F possibly damaging Het
Mapk8 T C 14: 33,112,205 (GRCm39) T228A probably benign Het
Med12l T C 3: 59,205,342 (GRCm39) V2101A probably benign Het
Mettl13 T C 1: 162,375,771 (GRCm39) K19E possibly damaging Het
Mta1 A G 12: 113,075,802 (GRCm39) Y22C probably damaging Het
Notch3 T C 17: 32,377,087 (GRCm39) T273A possibly damaging Het
Notch4 T C 17: 34,803,409 (GRCm39) W1443R probably damaging Het
Npy5r T A 8: 67,134,697 (GRCm39) D32V probably damaging Het
Or8k36-ps1 C A 2: 86,437,297 (GRCm39) *206L probably null Het
Rbm47 A G 5: 66,180,080 (GRCm39) M409T probably benign Het
Rxfp1 T A 3: 79,552,256 (GRCm39) T682S probably damaging Het
Sertad2 GCCCC GCCCCC 11: 20,598,664 (GRCm39) probably null Het
Sos1 A G 17: 80,756,781 (GRCm39) V257A probably benign Het
Tdrd9 C T 12: 111,979,920 (GRCm39) Q256* probably null Het
Tmprss11d A T 5: 86,457,138 (GRCm39) S174T probably damaging Het
Tor1b T A 2: 30,846,531 (GRCm39) I238N probably damaging Het
Tppp2 T C 14: 52,156,957 (GRCm39) probably null Het
Traf3ip3 A G 1: 192,863,628 (GRCm39) V414A probably damaging Het
Trim14 T A 4: 46,523,709 (GRCm39) T110S probably benign Het
Trim30d T C 7: 104,137,007 (GRCm39) N66D probably damaging Het
Usp48 A G 4: 137,350,651 (GRCm39) N46S possibly damaging Het
Vmn2r115 A C 17: 23,565,358 (GRCm39) Q415P probably benign Het
Wbp2nl A G 15: 82,192,762 (GRCm39) M149V probably benign Het
Zfp106 T C 2: 120,357,380 (GRCm39) probably null Het
Zfp281 T A 1: 136,553,859 (GRCm39) I279N probably damaging Het
Other mutations in Rnf144a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Rnf144a APN 12 26,377,300 (GRCm39) missense probably benign 0.01
IGL02709:Rnf144a APN 12 26,371,009 (GRCm39) missense probably damaging 1.00
R0432:Rnf144a UTSW 12 26,389,328 (GRCm39) missense probably damaging 1.00
R3897:Rnf144a UTSW 12 26,360,712 (GRCm39) missense probably damaging 1.00
R4504:Rnf144a UTSW 12 26,377,302 (GRCm39) missense probably benign 0.11
R5985:Rnf144a UTSW 12 26,367,779 (GRCm39) missense probably benign 0.04
R6392:Rnf144a UTSW 12 26,360,779 (GRCm39) missense possibly damaging 0.93
R7827:Rnf144a UTSW 12 26,389,439 (GRCm39) start codon destroyed probably null 0.89
R8431:Rnf144a UTSW 12 26,377,300 (GRCm39) missense probably damaging 1.00
R8692:Rnf144a UTSW 12 26,370,972 (GRCm39) missense probably benign 0.04
R8832:Rnf144a UTSW 12 26,370,948 (GRCm39) unclassified probably benign
R8861:Rnf144a UTSW 12 26,389,343 (GRCm39) missense probably damaging 1.00
R9225:Rnf144a UTSW 12 26,377,606 (GRCm39) missense probably damaging 1.00
R9789:Rnf144a UTSW 12 26,377,574 (GRCm39) missense probably benign 0.23
RF018:Rnf144a UTSW 12 26,364,013 (GRCm39) critical splice donor site probably benign
RF036:Rnf144a UTSW 12 26,364,012 (GRCm39) critical splice donor site probably benign
RF036:Rnf144a UTSW 12 26,364,007 (GRCm39) critical splice donor site probably benign
RF043:Rnf144a UTSW 12 26,364,013 (GRCm39) critical splice donor site probably benign
RF048:Rnf144a UTSW 12 26,364,010 (GRCm39) critical splice donor site probably benign
Predicted Primers PCR Primer
(F):5'- GGTCTAGAACATAATACAACATCAGGC -3'
(R):5'- CATGTTTTGCCGAAGACATGAAATC -3'

Sequencing Primer
(F):5'- ACATCAGGCCAAGCAGAAG -3'
(R):5'- GGTTTACTGAAGGGCCTATAACC -3'
Posted On 2015-05-15