Incidental Mutation 'R4504:Rnf144a'
ID 331938
Institutional Source Beutler Lab
Gene Symbol Rnf144a
Ensembl Gene ENSMUSG00000020642
Gene Name ring finger protein 144A
Synonyms UIP4, Rnf144
MMRRC Submission 041755-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4504 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 26356796-26465296 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26377302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 92 (R92S)
Ref Sequence ENSEMBL: ENSMUSP00000152807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020971] [ENSMUST00000062149] [ENSMUST00000222082]
AlphaFold Q925F3
Predicted Effect probably benign
Transcript: ENSMUST00000020971
AA Change: R92S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000020971
Gene: ENSMUSG00000020642
AA Change: R92S

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: ENSMUST00000062149
AA Change: R92S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000056073
Gene: ENSMUSG00000020642
AA Change: R92S

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
AA Change: R92S

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.1224 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (45/45)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik A G 14: 44,407,899 (GRCm39) S45P probably damaging Het
Adgrg4 C T X: 55,961,802 (GRCm39) R1124C possibly damaging Het
Anxa13 T C 15: 58,228,052 (GRCm39) noncoding transcript Het
Arhgap32 C A 9: 32,093,135 (GRCm39) probably null Het
Carm1 T C 9: 21,480,822 (GRCm39) F99L probably damaging Het
Dennd1b A G 1: 139,013,665 (GRCm39) E253G possibly damaging Het
Dsg4 A G 18: 20,594,493 (GRCm39) I541V probably benign Het
Dstyk A G 1: 132,362,127 (GRCm39) T186A possibly damaging Het
Ear1 A T 14: 44,056,721 (GRCm39) V49D probably benign Het
Epha10 A G 4: 124,809,480 (GRCm39) probably benign Het
Fbh1 A G 2: 11,753,828 (GRCm39) V838A possibly damaging Het
Fndc8 T A 11: 82,783,226 (GRCm39) M69K probably benign Het
Golga1 T C 2: 38,913,466 (GRCm39) I482V probably benign Het
Hivep3 G A 4: 119,590,990 (GRCm39) probably benign Het
Igkv13-85 A G 6: 68,907,356 (GRCm39) F82L probably damaging Het
Itih1 G A 14: 30,657,842 (GRCm39) R410C probably damaging Het
Kcnc2 T C 10: 112,291,699 (GRCm39) W296R probably damaging Het
Kcnq3 A T 15: 65,867,191 (GRCm39) Y817* probably null Het
Kif3b T C 2: 153,165,564 (GRCm39) probably null Het
Krtcap2 A G 3: 89,153,563 (GRCm39) probably benign Het
Lhx5 C A 5: 120,578,073 (GRCm39) H298N possibly damaging Het
Notch1 A G 2: 26,362,189 (GRCm39) V1022A probably benign Het
Npc1l1 A G 11: 6,178,741 (GRCm39) L223S possibly damaging Het
Or11m3 T C 15: 98,396,015 (GRCm39) F221L probably benign Het
Or4c10 C T 2: 89,760,695 (GRCm39) P181S possibly damaging Het
Or8a1b C T 9: 37,622,760 (GRCm39) V272I probably benign Het
Pbxip1 A G 3: 89,353,690 (GRCm39) D281G possibly damaging Het
Pcdhga8 G C 18: 37,949,816 (GRCm39) V411L probably damaging Het
Pcsk5 C T 19: 17,429,319 (GRCm39) C1553Y probably damaging Het
Pdgfc A C 3: 81,082,298 (GRCm39) M164L probably benign Het
Pdzd8 T C 19: 59,333,880 (GRCm39) Y47C probably damaging Het
Pip5k1c T A 10: 81,150,945 (GRCm39) I633N probably damaging Het
Pkn1 G A 8: 84,419,556 (GRCm39) R16* probably null Het
Pole2 A G 12: 69,269,242 (GRCm39) V85A probably benign Het
Ppp4c A C 7: 126,386,637 (GRCm39) L150R probably damaging Het
Pramel25 G C 4: 143,520,553 (GRCm39) E102Q probably benign Het
Ric8a A G 7: 140,438,429 (GRCm39) I223V probably benign Het
Sbno2 C A 10: 79,896,326 (GRCm39) R898L possibly damaging Het
Scnn1b A C 7: 121,511,698 (GRCm39) N370T probably damaging Het
Taar3 A G 10: 23,825,471 (GRCm39) I6V possibly damaging Het
Vps13a T C 19: 16,672,866 (GRCm39) E1302G possibly 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
R4087:Rnf144a UTSW 12 26,377,591 (GRCm39) missense probably damaging 1.00
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'- CACCAGACTCTGAGCATCTC -3'
(R):5'- GCCACCTTCAGGAGAATGAG -3'

Sequencing Primer
(F):5'- TGAGCATCTCAGAGGATTTCACAC -3'
(R):5'- TACATTCAGGGAGGGAGCAC -3'
Posted On 2015-07-21