Incidental Mutation 'R0894:Ubr7'
ID 83696
Institutional Source Beutler Lab
Gene Symbol Ubr7
Ensembl Gene ENSMUSG00000041712
Gene Name ubiquitin protein ligase E3 component n-recognin 7 (putative)
Synonyms 5730410I19Rik
MMRRC Submission 039057-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R0894 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 102724234-102743960 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 102735450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 303 (T303N)
Ref Sequence ENSEMBL: ENSMUSP00000041247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046404]
AlphaFold Q8BU04
Predicted Effect probably damaging
Transcript: ENSMUST00000046404
AA Change: T303N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041247
Gene: ENSMUSG00000041712
AA Change: T303N

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:zf-UBR 45 113 2.4e-15 PFAM
PHD 134 186 1.78e-1 SMART
low complexity region 261 267 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221771
Meta Mutation Damage Score 0.2481 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.8%
Validation Efficiency 97% (102/105)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recognizes N-degrons, the destabilizing N-terminal residues of short-lived proteins, which results in ubiquitinylation, and proteolysis via the proteasome. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,471,726 (GRCm39) S1044G probably benign Het
Aanat A G 11: 116,487,730 (GRCm39) H143R probably benign Het
Abca8a A G 11: 109,941,792 (GRCm39) I1159T probably benign Het
Abcb1a G T 5: 8,724,856 (GRCm39) probably benign Het
Abcc1 T C 16: 14,283,001 (GRCm39) V1159A possibly damaging Het
Akr1e1 T A 13: 4,645,071 (GRCm39) Q204L probably damaging Het
Alk T C 17: 72,202,930 (GRCm39) Y1135C probably damaging Het
Atad2b C T 12: 5,015,915 (GRCm39) T547I probably damaging Het
Brd10 T C 19: 29,697,974 (GRCm39) probably benign Het
C030005K15Rik A T 10: 97,561,648 (GRCm39) S28T unknown Het
Cdk5rap3 A G 11: 96,799,654 (GRCm39) L387P probably damaging Het
Cfap95 T C 19: 23,630,062 (GRCm39) E10G unknown Het
Cfap96 A G 8: 46,409,497 (GRCm39) F274S probably damaging Het
Clec4f T A 6: 83,629,979 (GRCm39) N193I probably damaging Het
Col4a4 A T 1: 82,507,377 (GRCm39) probably null Het
Cplx4 T G 18: 66,090,116 (GRCm39) D101A possibly damaging Het
Cpne8 A T 15: 90,533,474 (GRCm39) D50E probably damaging Het
Csmd3 G T 15: 47,721,316 (GRCm39) D1542E possibly damaging Het
Ctdp1 A G 18: 80,512,736 (GRCm39) V9A probably benign Het
Ctnnd2 A T 15: 30,332,301 (GRCm39) probably benign Het
Cyp7b1 C T 3: 18,151,674 (GRCm39) A180T probably benign Het
Dcun1d5 C T 9: 7,203,379 (GRCm39) probably benign Het
Dgat1 G T 15: 76,387,199 (GRCm39) L363I possibly damaging Het
Dipk2b T A X: 18,289,791 (GRCm39) I224F possibly damaging Het
Dlg1 T A 16: 31,561,965 (GRCm39) H120Q probably benign Het
Dnah6 T C 6: 73,101,740 (GRCm39) N1928S probably benign Het
Dnai4 T C 4: 102,906,583 (GRCm39) probably benign Het
Dync2h1 A T 9: 7,041,734 (GRCm39) probably benign Het
Ednra T G 8: 78,446,649 (GRCm39) probably benign Het
Efcab6 A T 15: 83,802,493 (GRCm39) C845S probably benign Het
Egln1 A T 8: 125,642,435 (GRCm39) C303S probably damaging Het
Eomes T C 9: 118,311,368 (GRCm39) probably null Het
Epha1 A G 6: 42,340,756 (GRCm39) V568A probably benign Het
Ercc6 T A 14: 32,238,985 (GRCm39) N24K probably benign Het
Esco2 T C 14: 66,064,726 (GRCm39) Q338R probably benign Het
Fbxo46 T C 7: 18,869,654 (GRCm39) V91A probably damaging Het
Fryl A T 5: 73,198,675 (GRCm39) probably benign Het
Gab3 A C X: 74,077,024 (GRCm39) D43E probably damaging Het
Gltpd2 T A 11: 70,410,535 (GRCm39) probably benign Het
Gm17333 G T 16: 77,649,711 (GRCm39) noncoding transcript Het
Gm7353 T C 7: 3,160,570 (GRCm39) noncoding transcript Het
Grik4 T C 9: 42,599,405 (GRCm39) probably benign Het
Gtpbp2 G T 17: 46,476,895 (GRCm39) A358S possibly damaging Het
Hyls1 C T 9: 35,472,528 (GRCm39) C296Y probably damaging Het
Igf2r C T 17: 12,910,988 (GRCm39) M1943I probably benign Het
Iqca1l T C 5: 24,755,731 (GRCm39) probably null Het
Ireb2 T A 9: 54,803,861 (GRCm39) N517K probably damaging Het
Itga10 A G 3: 96,560,976 (GRCm39) S614G possibly damaging Het
Kdm2b A G 5: 123,122,523 (GRCm39) probably null Het
Kif17 T C 4: 138,025,542 (GRCm39) M948T possibly damaging Het
Klhl33 A T 14: 51,129,583 (GRCm39) N347K probably damaging Het
Llph T A 10: 120,064,086 (GRCm39) C67* probably null Het
Lrrn3 T C 12: 41,504,033 (GRCm39) T95A probably damaging Het
Map3k12 C A 15: 102,410,613 (GRCm39) A455S probably damaging Het
Mex3d T C 10: 80,217,376 (GRCm39) T149A probably benign Het
Myo7b A G 18: 32,133,123 (GRCm39) W409R probably damaging Het
Nbea A G 3: 55,916,761 (GRCm39) M833T possibly damaging Het
Ncapg A G 5: 45,837,236 (GRCm39) T436A probably null Het
Nkx1-2 C A 7: 132,201,042 (GRCm39) D72Y probably null Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2d3b T A 7: 106,514,317 (GRCm39) I304K probably benign Het
Or6c217 T A 10: 129,737,751 (GRCm39) N276I probably damaging Het
Pcdh15 A G 10: 74,460,087 (GRCm39) Y1308C probably damaging Het
Pcnx2 A G 8: 126,613,665 (GRCm39) probably benign Het
Pcsk1 G A 13: 75,246,096 (GRCm39) G158D probably damaging Het
Phkb A T 8: 86,744,070 (GRCm39) D573V probably damaging Het
Pik3r4 A G 9: 105,544,970 (GRCm39) K150E possibly damaging Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Ppp4r4 C T 12: 103,566,754 (GRCm39) A67V probably damaging Het
Prex2 A G 1: 11,252,122 (GRCm39) T1056A probably benign Het
Prkca A T 11: 107,903,518 (GRCm39) Y285N possibly damaging Het
Psd T C 19: 46,301,880 (GRCm39) E903G probably damaging Het
Psg19 T C 7: 18,527,987 (GRCm39) E252G probably benign Het
Psg20 T A 7: 18,414,969 (GRCm39) K306* probably null Het
Pygl T G 12: 70,241,148 (GRCm39) probably benign Het
Rasgrf2 A G 13: 92,130,890 (GRCm39) S724P probably damaging Het
Reck C A 4: 43,922,967 (GRCm39) A414D probably damaging Het
Scn10a C A 9: 119,459,213 (GRCm39) V1150L probably damaging Het
Shc2 A T 10: 79,465,751 (GRCm39) I187N probably damaging Het
Sipa1l3 T A 7: 29,086,716 (GRCm39) K625* probably null Het
Slc44a4 T C 17: 35,147,466 (GRCm39) L583P possibly damaging Het
Slc5a11 G C 7: 122,857,643 (GRCm39) R244P possibly damaging Het
Slfn8 T A 11: 82,894,407 (GRCm39) Q744L probably benign Het
Snx2 G T 18: 53,309,488 (GRCm39) V13L probably benign Het
Spmip5 A T 19: 58,776,015 (GRCm39) L138Q probably damaging Het
Spsb1 C T 4: 149,990,872 (GRCm39) probably null Het
Stfa2l1 A T 16: 35,977,228 (GRCm39) I8L probably benign Het
Svil G T 18: 5,097,494 (GRCm39) R1659L probably damaging Het
Tbccd1 A T 16: 22,640,995 (GRCm39) L461M probably benign Het
Tmem9 A T 1: 135,961,926 (GRCm39) T174S possibly damaging Het
Tnks2 T C 19: 36,867,450 (GRCm39) probably null Het
Tnrc18 C A 5: 142,800,869 (GRCm39) V30L probably benign Het
Tomm7 A G 5: 24,049,025 (GRCm39) F16S probably damaging Het
Ttf2 A G 3: 100,876,865 (GRCm39) probably benign Het
Ushbp1 A T 8: 71,842,868 (GRCm39) probably null Het
Vmn1r177 C A 7: 23,565,475 (GRCm39) V134F probably benign Het
Vmn2r12 A G 5: 109,235,716 (GRCm39) probably null Het
Vmn2r53 T G 7: 12,335,141 (GRCm39) H173P probably benign Het
Yars1 A T 4: 129,090,948 (GRCm39) M119L probably damaging Het
Zcrb1 A T 15: 93,295,038 (GRCm39) probably benign Het
Zfp267 T A 3: 36,218,935 (GRCm39) Y319* probably null Het
Zfp319 C A 8: 96,056,250 (GRCm39) probably benign Het
Zfp783 C G 6: 47,920,320 (GRCm39) noncoding transcript Het
Zfyve26 A G 12: 79,320,372 (GRCm39) I1024T possibly damaging Het
Other mutations in Ubr7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:Ubr7 APN 12 102,734,535 (GRCm39) nonsense probably null
IGL02493:Ubr7 APN 12 102,734,479 (GRCm39) missense probably benign 0.00
IGL02750:Ubr7 APN 12 102,737,537 (GRCm39) missense possibly damaging 0.68
IGL03229:Ubr7 APN 12 102,735,414 (GRCm39) missense probably damaging 1.00
dwindled UTSW 12 102,727,723 (GRCm39) missense probably damaging 1.00
Hair UTSW 12 102,724,342 (GRCm39) missense probably damaging 0.98
Inch UTSW 12 102,732,099 (GRCm39) nonsense probably null
R0519:Ubr7 UTSW 12 102,734,465 (GRCm39) missense probably benign 0.00
R1453:Ubr7 UTSW 12 102,735,437 (GRCm39) missense probably benign 0.00
R1598:Ubr7 UTSW 12 102,736,153 (GRCm39) missense probably damaging 1.00
R2201:Ubr7 UTSW 12 102,727,764 (GRCm39) critical splice donor site probably null
R4731:Ubr7 UTSW 12 102,735,485 (GRCm39) missense probably benign 0.03
R4834:Ubr7 UTSW 12 102,727,761 (GRCm39) missense probably damaging 1.00
R5222:Ubr7 UTSW 12 102,741,964 (GRCm39) missense probably benign 0.09
R5662:Ubr7 UTSW 12 102,734,526 (GRCm39) missense probably benign 0.00
R5845:Ubr7 UTSW 12 102,732,571 (GRCm39) missense probably damaging 0.99
R5867:Ubr7 UTSW 12 102,727,753 (GRCm39) missense probably damaging 1.00
R6257:Ubr7 UTSW 12 102,732,099 (GRCm39) nonsense probably null
R6543:Ubr7 UTSW 12 102,734,494 (GRCm39) missense probably benign 0.01
R6601:Ubr7 UTSW 12 102,727,723 (GRCm39) missense probably damaging 1.00
R6849:Ubr7 UTSW 12 102,724,342 (GRCm39) missense probably damaging 0.98
R7330:Ubr7 UTSW 12 102,741,971 (GRCm39) missense probably damaging 0.99
R7576:Ubr7 UTSW 12 102,735,398 (GRCm39) missense probably damaging 1.00
R8256:Ubr7 UTSW 12 102,736,170 (GRCm39) missense probably damaging 1.00
R8334:Ubr7 UTSW 12 102,724,397 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCCAGACCCATGAGAAGTTGC -3'
(R):5'- CCCATAGGAAATCAGTGTCCCCTGAA -3'

Sequencing Primer
(F):5'- gagagagagagagagagagagag -3'
(R):5'- GTGTCCCCTGAACTCAGATATCG -3'
Posted On 2013-11-08