Incidental Mutation 'R0519:Ubr7'
ID 48412
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 038712-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R0519 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 102724234-102743960 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102734465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 246 (D246E)
Ref Sequence ENSEMBL: ENSMUSP00000041247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046404]
AlphaFold Q8BU04
Predicted Effect probably benign
Transcript: ENSMUST00000046404
AA Change: D246E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000041247
Gene: ENSMUSG00000041712
AA Change: D246E

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 0.0614 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.6%
  • 20x: 93.2%
Validation Efficiency 99% (74/75)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,696,067 (GRCm39) R168G probably benign Het
2810004N23Rik C T 8: 125,566,668 (GRCm39) G251R possibly damaging Het
3425401B19Rik A G 14: 32,384,919 (GRCm39) S349P possibly damaging Het
Ackr4 A G 9: 103,976,650 (GRCm39) V99A probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Asxl3 A G 18: 22,656,577 (GRCm39) Q1529R possibly damaging Het
Atg12 T C 18: 46,874,477 (GRCm39) E46G probably benign Het
Cdcp2 A G 4: 106,964,389 (GRCm39) probably benign Het
Clasrp A G 7: 19,318,089 (GRCm39) probably benign Het
Clip2 A G 5: 134,545,005 (GRCm39) V383A probably benign Het
Cntln C T 4: 84,923,290 (GRCm39) probably benign Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Csmd2 A C 4: 128,380,798 (GRCm39) Y2118S possibly damaging Het
Dip2c T A 13: 9,613,244 (GRCm39) V415E probably damaging Het
Dpy19l2 C T 9: 24,469,391 (GRCm39) R755Q probably benign Het
Dsn1 A T 2: 156,840,633 (GRCm39) probably benign Het
Dtd2 T C 12: 52,051,742 (GRCm39) probably benign Het
Dync1i1 A G 6: 6,027,399 (GRCm39) T602A probably benign Het
Ercc6 A C 14: 32,248,799 (GRCm39) D450A probably damaging Het
Fgf12 A T 16: 28,008,380 (GRCm39) V104D probably benign Het
Frem1 A T 4: 82,888,870 (GRCm39) probably null Het
Gcgr G T 11: 120,426,982 (GRCm39) W88L probably damaging Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Hapln1 A G 13: 89,732,835 (GRCm39) probably benign Het
Hmgn3 T C 9: 82,994,301 (GRCm39) E40G probably damaging Het
Hsdl1 G A 8: 120,292,450 (GRCm39) A255V probably damaging Het
Hyls1 T C 9: 35,472,499 (GRCm39) K306E probably damaging Het
Jcad C T 18: 4,649,122 (GRCm39) probably benign Het
Kif14 C A 1: 136,396,885 (GRCm39) A397E probably damaging Het
Lcmt2 A T 2: 120,969,825 (GRCm39) probably null Het
Lifr T C 15: 7,207,061 (GRCm39) L524P probably damaging Het
Ly6g6f T C 17: 35,301,828 (GRCm39) K209E possibly damaging Het
Macf1 G A 4: 123,365,113 (GRCm39) T1651I probably benign Het
Mapk4 T C 18: 74,103,392 (GRCm39) D39G probably damaging Het
Mbl1 A G 14: 40,880,522 (GRCm39) M137V probably damaging Het
Mcm10 G A 2: 5,013,356 (GRCm39) S92L probably benign Het
Mug1 A G 6: 121,828,383 (GRCm39) K265R possibly damaging Het
Mxra7 A G 11: 116,701,612 (GRCm39) probably null Het
Neu3 G A 7: 99,472,524 (GRCm39) probably benign Het
Nsd1 A G 13: 55,460,648 (GRCm39) T2395A probably benign Het
Or1j1 T A 2: 36,702,627 (GRCm39) H159L probably damaging Het
Or5m9 A T 2: 85,877,411 (GRCm39) Y195F probably benign Het
Or6s1 T A 14: 51,308,614 (GRCm39) I79F probably damaging Het
Or7g34 A T 9: 19,478,245 (GRCm39) I145N probably benign Het
Osgepl1 T C 1: 53,360,255 (GRCm39) V327A probably damaging Het
Pcdhb21 T C 18: 37,649,085 (GRCm39) V738A possibly damaging Het
Plekha8 A T 6: 54,599,092 (GRCm39) probably benign Het
Ptprq A C 10: 107,374,781 (GRCm39) probably benign Het
Pus10 T A 11: 23,661,201 (GRCm39) F263Y probably benign Het
Rad54b A T 4: 11,599,809 (GRCm39) I338F probably damaging Het
Rad54l2 A G 9: 106,585,498 (GRCm39) F756L probably damaging Het
Scn11a A G 9: 119,619,185 (GRCm39) L719P probably damaging Het
Slc2a2 G A 3: 28,772,965 (GRCm39) V253I possibly damaging Het
Slc39a4 A T 15: 76,499,338 (GRCm39) N192K probably benign Het
Soat1 T A 1: 156,268,816 (GRCm39) I245F probably damaging Het
Sorcs2 G A 5: 36,188,534 (GRCm39) A858V probably benign Het
Tcim T C 8: 24,928,651 (GRCm39) T88A possibly damaging Het
Tecta G A 9: 42,259,188 (GRCm39) probably benign Het
Tgm5 C A 2: 120,879,376 (GRCm39) L553F probably damaging Het
Tjp1 A G 7: 64,952,669 (GRCm39) V1555A probably benign Het
Tmem214 A C 5: 31,027,012 (GRCm39) M1L probably null Het
Togaram1 T C 12: 65,012,776 (GRCm39) probably benign Het
Topaz1 C A 9: 122,578,544 (GRCm39) L485I possibly damaging Het
Ttn T C 2: 76,548,626 (GRCm39) probably benign Het
Ube2o A G 11: 116,437,285 (GRCm39) probably null Het
Vcpkmt T C 12: 69,629,102 (GRCm39) D132G probably benign Het
Vmn2r111 T A 17: 22,792,102 (GRCm39) Q51H probably benign Het
Vmn2r95 C T 17: 18,659,765 (GRCm39) P170S probably damaging Het
Zbtb38 A G 9: 96,567,826 (GRCm39) I1086T probably damaging Het
Zfp444 G A 7: 6,191,172 (GRCm39) A118T probably benign Het
Zp2 A G 7: 119,737,372 (GRCm39) I272T probably 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
R0894:Ubr7 UTSW 12 102,735,450 (GRCm39) missense probably damaging 1.00
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'- GATTGCAGCACCCTTACCCACC -3'
(R):5'- acctctccagcccATGCCC -3'

Sequencing Primer
(F):5'- ctgcataccagaaggggac -3'
(R):5'- agcccATGCCCAGCAAC -3'
Posted On 2013-06-12