Incidental Mutation 'R5845:Ubr7'
ID 453580
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 044063-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R5845 (G1)
Quality Score 177
Status Validated
Chromosome 12
Chromosomal Location 102724234-102743960 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102732571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 188 (R188C)
Ref Sequence ENSEMBL: ENSMUSP00000041247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046404]
AlphaFold Q8BU04
Predicted Effect probably damaging
Transcript: ENSMUST00000046404
AA Change: R188C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041247
Gene: ENSMUSG00000041712
AA Change: R188C

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 0.5954 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.3%
Validation Efficiency 97% (59/61)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A T 5: 121,764,146 (GRCm39) Y928N probably benign Het
Amz2 T C 11: 109,324,755 (GRCm39) F213S probably damaging Het
Cage1 T A 13: 38,199,682 (GRCm39) S732C probably damaging Het
Ccnf C A 17: 24,459,767 (GRCm39) D229Y possibly damaging Het
Cdon G T 9: 35,368,762 (GRCm39) C332F probably damaging Het
Clca3b G A 3: 144,531,077 (GRCm39) R758C possibly damaging Het
Cyp2ab1 C T 16: 20,131,082 (GRCm39) R349H probably benign Het
Dock10 C T 1: 80,483,459 (GRCm39) probably benign Het
Dock5 A T 14: 68,078,550 (GRCm39) Y225N possibly damaging Het
Ear2 G A 14: 44,340,618 (GRCm39) R92K probably benign Het
Eif3c T C 7: 126,163,927 (GRCm39) S39G probably damaging Het
Eml3 A G 19: 8,916,582 (GRCm39) D701G probably damaging Het
Fat3 G A 9: 16,288,506 (GRCm39) T339I probably damaging Het
Fbn2 T C 18: 58,186,840 (GRCm39) D1687G possibly damaging Het
Fcnb C T 2: 27,969,633 (GRCm39) probably null Het
Flacc1 T A 1: 58,706,937 (GRCm39) E243D possibly damaging Het
Fscb A G 12: 64,519,558 (GRCm39) V636A unknown Het
Gm6124 A G 7: 38,869,299 (GRCm39) noncoding transcript Het
Hectd4 T A 5: 121,445,587 (GRCm39) probably null Het
Hrnr A T 3: 93,239,944 (GRCm39) H3394L unknown Het
Hs1bp3 A G 12: 8,386,275 (GRCm39) R226G probably benign Het
Ifngr2 T C 16: 91,351,947 (GRCm39) V61A probably benign Het
Irag2 G A 6: 145,117,392 (GRCm39) M376I probably benign Het
Kcnk2 T C 1: 189,009,918 (GRCm39) probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Mgam T A 6: 40,652,257 (GRCm39) N810K possibly damaging Het
Mis18a A G 16: 90,518,522 (GRCm39) probably null Het
Nsmce3 A G 7: 64,521,936 (GRCm39) V244A possibly damaging Het
Or10ag59 T C 2: 87,406,367 (GRCm39) I313T probably benign Het
Plxna4 A T 6: 32,214,711 (GRCm39) V590D probably damaging Het
Prkab1 A T 5: 116,162,219 (GRCm39) D30E probably benign Het
Rasgrp3 A T 17: 75,810,142 (GRCm39) N281Y possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Septin2 T A 1: 93,426,757 (GRCm39) probably null Het
Slc26a6 T G 9: 108,739,282 (GRCm39) V609G possibly damaging Het
Spta1 T A 1: 174,068,662 (GRCm39) M2154K probably damaging Het
Stoml2 T G 4: 43,030,008 (GRCm39) probably benign Het
Sult6b1 A C 17: 79,202,059 (GRCm39) S148A probably damaging Het
Tmem131l A G 3: 83,847,860 (GRCm39) V335A probably damaging Het
Tmem221 T A 8: 72,007,788 (GRCm39) probably null Het
Tmem88 C G 11: 69,288,504 (GRCm39) Q138H probably benign Het
Trpm8 T C 1: 88,255,902 (GRCm39) Y186H probably benign Het
Trpv1 T C 11: 73,131,407 (GRCm39) I7T probably damaging Het
Ttc34 T C 4: 154,949,929 (GRCm39) S961P probably benign Het
Ubr1 T C 2: 120,734,486 (GRCm39) D1138G probably benign Het
Uspl1 C T 5: 149,130,770 (GRCm39) P118S probably benign Het
Vdr C A 15: 97,767,647 (GRCm39) E114D possibly damaging Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zswim4 T A 8: 84,943,871 (GRCm39) 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
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
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'- TGGGAAATTGCTCACTGGGTC -3'
(R):5'- ATTTGTTCCTGGTAGGCTCC -3'

Sequencing Primer
(F):5'- CAGCTGTAAGTTCAAGGCCAATCTG -3'
(R):5'- TGGTAGGCTCCCAACCAGTC -3'
Posted On 2017-02-10