Incidental Mutation 'IGL02709:Rnf144a'
ID 304474
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf144a
Ensembl Gene ENSMUSG00000020642
Gene Name ring finger protein 144A
Synonyms UIP4, Rnf144
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02709
Quality Score
Status
Chromosome 12
Chromosomal Location 26356796-26465296 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 26371009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 151 (H151N)
Ref Sequence ENSEMBL: ENSMUSP00000056073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020971] [ENSMUST00000062149] [ENSMUST00000222082]
AlphaFold Q925F3
Predicted Effect probably damaging
Transcript: ENSMUST00000020971
AA Change: H151N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020971
Gene: ENSMUSG00000020642
AA Change: H151N

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: H151N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000056073
Gene: ENSMUSG00000020642
AA Change: H151N

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 benign
Transcript: ENSMUST00000222082
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 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,654,619 (GRCm39) Y151C probably damaging Het
Aco1 G A 4: 40,180,199 (GRCm39) V367M possibly damaging Het
Acsm5 G A 7: 119,134,041 (GRCm39) W274* probably null Het
Ago1 G A 4: 126,347,433 (GRCm39) Q135* probably null Het
Bmpr1b A T 3: 141,562,314 (GRCm39) L291Q probably damaging Het
Cdcp1 A G 9: 123,002,879 (GRCm39) Y731H probably damaging Het
Clrn2 A G 5: 45,617,495 (GRCm39) N122S probably damaging Het
Col4a3 G T 1: 82,656,833 (GRCm39) G751W unknown Het
Ctsc C T 7: 87,957,347 (GRCm39) A294V probably damaging Het
Cyp26a1 T C 19: 37,688,426 (GRCm39) L316P probably damaging Het
Dennd6b A T 15: 89,075,125 (GRCm39) probably benign Het
Dnah10 T A 5: 124,850,809 (GRCm39) Y1659* probably null Het
Dspp A C 5: 104,325,116 (GRCm39) D493A unknown Het
Dyrk1a C T 16: 94,486,102 (GRCm39) A445V probably benign Het
E030025P04Rik C A 11: 109,030,324 (GRCm39) probably benign Het
Ecpas A G 4: 58,872,699 (GRCm39) S201P possibly damaging Het
Foxd4 T C 19: 24,876,973 (GRCm39) H409R probably damaging Het
Fubp3 A G 2: 31,485,343 (GRCm39) probably benign Het
Herc1 A G 9: 66,404,962 (GRCm39) K4511E probably damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Map1lc3b T A 8: 122,322,768 (GRCm39) L82Q probably damaging Het
Mcc A T 18: 44,578,877 (GRCm39) S844T possibly damaging Het
Mccc1 A T 3: 36,044,888 (GRCm39) *85K probably null Het
Memo1 G A 17: 74,552,027 (GRCm39) L90F probably damaging Het
Mfrp A G 9: 44,014,561 (GRCm39) H236R probably benign Het
Mmrn1 G A 6: 60,950,030 (GRCm39) D327N probably damaging Het
Mycbp2 T C 14: 103,392,697 (GRCm39) E3178G probably damaging Het
Pcsk9 A G 4: 106,304,886 (GRCm39) probably benign Het
Pros1 T C 16: 62,719,308 (GRCm39) L110P probably damaging Het
Reck A G 4: 43,913,791 (GRCm39) Y215C probably damaging Het
Ripk4 T C 16: 97,544,766 (GRCm39) D627G probably damaging Het
Slc39a9 T A 12: 80,713,421 (GRCm39) H106Q probably damaging Het
Stab2 A G 10: 86,682,029 (GRCm39) probably benign Het
Sympk T G 7: 18,781,463 (GRCm39) H806Q probably benign Het
Tars2 C A 3: 95,649,383 (GRCm39) probably benign Het
Thap3 T A 4: 152,070,169 (GRCm39) H75L probably damaging Het
Trappc8 T C 18: 20,970,235 (GRCm39) I918M possibly damaging Het
Ube2j2 T C 4: 156,041,788 (GRCm39) V249A probably damaging Het
Ubqln3 T G 7: 103,790,543 (GRCm39) T516P probably benign Het
Unc13c A G 9: 73,466,238 (GRCm39) S1810P probably benign Het
Vmn1r4 T A 6: 56,933,524 (GRCm39) Y9* probably null Het
Vmn1r89 T A 7: 12,954,131 (GRCm39) M221K probably damaging Het
Vmn2r1 G T 3: 64,012,355 (GRCm39) V739F probably benign Het
Vmn2r25 C T 6: 123,816,723 (GRCm39) R286Q possibly damaging Het
Vmn2r91 T A 17: 18,325,711 (GRCm39) Y110N possibly damaging Het
Zbtb48 T C 4: 152,105,851 (GRCm39) H418R probably damaging Het
Other mutations in Rnf144a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Rnf144a APN 12 26,377,300 (GRCm39) missense probably benign 0.01
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
R4087:Rnf144a UTSW 12 26,377,591 (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
Posted On 2015-04-16