Incidental Mutation 'R5222:Ubr7'
ID 402379
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 042795-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R5222 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 102724234-102743960 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102741964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 399 (R399S)
Ref Sequence ENSEMBL: ENSMUSP00000041247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046404]
AlphaFold Q8BU04
Predicted Effect probably benign
Transcript: ENSMUST00000046404
AA Change: R399S

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000041247
Gene: ENSMUSG00000041712
AA Change: R399S

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
Meta Mutation Damage Score 0.0707 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (52/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik C A 1: 159,872,178 (GRCm39) noncoding transcript Het
Acad11 G A 9: 103,974,576 (GRCm39) A515T probably damaging Het
Angpt1 T C 15: 42,539,730 (GRCm39) Y43C probably damaging Het
Arhgef33 A G 17: 80,644,743 (GRCm39) Y24C probably damaging Het
Cd40 G C 2: 164,908,464 (GRCm39) S180T probably benign Het
Cenpc1 A T 5: 86,185,606 (GRCm39) S302T possibly damaging Het
Cit C A 5: 116,090,602 (GRCm39) T932K probably benign Het
Col19a1 A C 1: 24,598,721 (GRCm39) probably null Het
Dapk3 A G 10: 81,028,294 (GRCm39) E288G probably damaging Het
Ddx60 T C 8: 62,437,192 (GRCm39) F1002S probably damaging Het
Dgke G T 11: 88,941,220 (GRCm39) T321K probably benign Het
Ebf2 T G 14: 67,551,043 (GRCm39) probably benign Het
Enpp7 A G 11: 118,881,788 (GRCm39) D311G probably benign Het
Epm2a A G 10: 11,324,493 (GRCm39) E194G probably damaging Het
Esf1 A G 2: 140,000,503 (GRCm39) Y428H possibly damaging Het
Esyt2 T C 12: 116,282,446 (GRCm39) F132S probably damaging Het
Gm5455 T C 13: 110,441,494 (GRCm39) noncoding transcript Het
Gria1 T A 11: 57,080,623 (GRCm39) V202E probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Mark1 A T 1: 184,660,288 (GRCm39) F123I probably damaging Het
Nectin4 T A 1: 171,212,825 (GRCm39) probably null Het
Obscn T A 11: 58,934,971 (GRCm39) T5220S possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2l13 A C 16: 19,305,680 (GRCm39) I31L probably benign Het
Or2p2 T A 13: 21,256,739 (GRCm39) H244L probably damaging Het
Pdcd1 A T 1: 93,980,175 (GRCm39) V14E probably damaging Het
Pmel A G 10: 128,554,853 (GRCm39) probably null Het
Pramel28 T A 4: 143,691,362 (GRCm39) I454F possibly damaging Het
Prrx1 C T 1: 163,089,542 (GRCm39) R95Q probably damaging Het
Pstpip2 T A 18: 77,962,032 (GRCm39) Y267* probably null Het
Ptprq A G 10: 107,498,425 (GRCm39) I884T probably damaging Het
Rad17 G A 13: 100,770,399 (GRCm39) T216I possibly damaging Het
Rif1 T C 2: 51,967,032 (GRCm39) I107T probably benign Het
Rpp14 T C 14: 8,087,513 (GRCm38) L69P probably damaging Het
Rtel1 G T 2: 180,988,776 (GRCm39) probably benign Het
Sap130 C T 18: 31,799,756 (GRCm39) T362M probably damaging Het
Scn11a A G 9: 119,644,268 (GRCm39) probably null Het
Sec31a G T 5: 100,530,754 (GRCm39) T243N probably benign Het
Slc5a9 T A 4: 111,755,808 (GRCm39) H30L possibly damaging Het
Slco6b1 T A 1: 96,925,216 (GRCm39) noncoding transcript Het
Smarca4 A G 9: 21,567,002 (GRCm39) D694G probably benign Het
Spaca6 A G 17: 18,058,367 (GRCm39) T213A probably benign Het
Tagap C A 17: 8,152,473 (GRCm39) Q553K possibly damaging Het
Tagap A T 17: 8,152,474 (GRCm39) Q553L possibly damaging Het
Tcf7l2 A G 19: 55,887,044 (GRCm39) Q19R probably benign Het
Ttn A G 2: 76,709,197 (GRCm39) probably benign Het
Uspl1 C A 5: 149,150,911 (GRCm39) Q690K possibly damaging Het
Vps8 T A 16: 21,400,298 (GRCm39) Y853* probably null Het
Vrk3 A T 7: 44,409,220 (GRCm39) Q129L possibly damaging Het
Wapl T A 14: 34,458,642 (GRCm39) C901* probably null 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
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
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'- CATCTAATCCTGTGGTGAGTGGAG -3'
(R):5'- ACCCTGCAGCTACTTAAGGAG -3'

Sequencing Primer
(F):5'- ACTGGGACACATTAGGTAGCCC -3'
(R):5'- CAGCTACTTAAGGAGAAGGCCTG -3'
Posted On 2016-07-22