Incidental Mutation 'R6849:Ubr7'
ID 534928
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 044953-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R6849 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 102724234-102743960 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102724342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 19 (S19P)
Ref Sequence ENSEMBL: ENSMUSP00000041247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046404] [ENSMUST00000173969] [ENSMUST00000174651] [ENSMUST00000179263] [ENSMUST00000179306]
AlphaFold Q8BU04
Predicted Effect probably damaging
Transcript: ENSMUST00000046404
AA Change: S19P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041247
Gene: ENSMUSG00000041712
AA Change: S19P

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 probably benign
Transcript: ENSMUST00000173969
SMART Domains Protein: ENSMUSP00000136425
Gene: ENSMUSG00000091931

DomainStartEndE-ValueType
Pfam:DUF4611 3 96 7.7e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174651
SMART Domains Protein: ENSMUSP00000133604
Gene: ENSMUSG00000041716

DomainStartEndE-ValueType
Pfam:DUF4611 3 73 8.6e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179263
SMART Domains Protein: ENSMUSP00000137212
Gene: ENSMUSG00000091931

DomainStartEndE-ValueType
Pfam:DUF4611 3 77 7.8e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179306
SMART Domains Protein: ENSMUSP00000136193
Gene: ENSMUSG00000098530

DomainStartEndE-ValueType
Pfam:DUF4611 3 77 1.5e-28 PFAM
Meta Mutation Damage Score 0.5874 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik G T 8: 125,366,261 (GRCm39) Q161K probably damaging Het
4930578I06Rik A T 14: 64,223,687 (GRCm39) W30R probably damaging Het
4930578I06Rik G T 14: 64,223,688 (GRCm39) N29K probably benign Het
Aldh6a1 A G 12: 84,490,561 (GRCm39) V18A probably benign Het
Apoa5 A G 9: 46,181,298 (GRCm39) K125E probably benign Het
Atosa A C 9: 74,916,594 (GRCm39) N398H probably damaging Het
Bphl T A 13: 34,234,252 (GRCm39) probably null Het
C2cd3 T A 7: 100,056,134 (GRCm39) V514E probably damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Cep192 A G 18: 67,945,506 (GRCm39) D202G probably benign Het
Chd5 A T 4: 152,462,995 (GRCm39) N1420Y probably damaging Het
Cnot10 A T 9: 114,461,004 (GRCm39) D55E probably benign Het
Cntn1 T A 15: 92,203,127 (GRCm39) I803N probably damaging Het
Col7a1 G T 9: 108,804,121 (GRCm39) V2217L unknown Het
Cpne9 T G 6: 113,279,079 (GRCm39) V491G probably damaging Het
Cracd C A 5: 77,004,857 (GRCm39) A406E unknown Het
Cracd C T 5: 77,005,004 (GRCm39) A455V unknown Het
Csnk2a1 C A 2: 152,092,484 (GRCm39) H18Q probably benign Het
D130040H23Rik T A 8: 69,755,303 (GRCm39) Y253* probably null Het
Dnah14 A T 1: 181,636,510 (GRCm39) M4321L probably benign Het
Dnah5 A G 15: 28,278,770 (GRCm39) T1122A probably benign Het
Eif4g1 A G 16: 20,499,495 (GRCm39) I515V probably benign Het
Fbn1 T C 2: 125,163,611 (GRCm39) K2082E possibly damaging Het
Fstl1 A G 16: 37,641,521 (GRCm39) K99R probably benign Het
Gar1 T C 3: 129,623,038 (GRCm39) N117S probably damaging Het
Gm3238 A T 10: 77,606,744 (GRCm39) probably benign Het
Gm32742 C T 9: 51,050,014 (GRCm39) M1528I probably benign Het
H2-T3 T C 17: 36,500,697 (GRCm39) I49V probably benign Het
Hyou1 A G 9: 44,298,561 (GRCm39) I581V probably damaging Het
Itk T C 11: 46,222,762 (GRCm39) N563S probably damaging Het
Lingo1 A G 9: 56,526,900 (GRCm39) L563P probably damaging Het
Lipc A G 9: 70,726,129 (GRCm39) probably null Het
Map4k3 A C 17: 80,937,842 (GRCm39) probably null Het
Mctp2 C T 7: 71,861,466 (GRCm39) C393Y probably damaging Het
Mei1 T A 15: 81,964,146 (GRCm39) L229M possibly damaging Het
Or13g1 T C 7: 85,956,248 (GRCm39) I24M possibly damaging Het
Or9i2 G T 19: 13,816,203 (GRCm39) C111* probably null Het
Pcnx2 A G 8: 126,587,949 (GRCm39) V833A probably damaging Het
Pde8b T C 13: 95,184,307 (GRCm39) N388D possibly damaging Het
Pi4ka G A 16: 17,121,285 (GRCm39) A1197V possibly damaging Het
Psd A G 19: 46,306,185 (GRCm39) Y36H probably damaging Het
Scn8a T A 15: 100,853,468 (GRCm39) probably null Het
Shisa6 A G 11: 66,416,327 (GRCm39) V155A probably benign Het
Slc45a3 T A 1: 131,905,702 (GRCm39) C242S probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Tmc3 T A 7: 83,235,565 (GRCm39) I54K probably damaging Het
Tmprss11g T A 5: 86,644,491 (GRCm39) I118F probably benign Het
Ttn T A 2: 76,744,687 (GRCm39) D5454V possibly damaging Het
Ube2f A G 1: 91,181,935 (GRCm39) probably null Het
Vav3 T C 3: 109,428,782 (GRCm39) V371A probably damaging Het
Vmn2r28 A G 7: 5,483,806 (GRCm39) V798A probably damaging Het
Vmn2r95 T G 17: 18,664,181 (GRCm39) C467G probably damaging Het
Vmn2r95 G T 17: 18,664,182 (GRCm39) C467F probably damaging Het
Vps13b A G 15: 35,905,455 (GRCm39) D3325G probably damaging Het
Wnk2 T C 13: 49,220,834 (GRCm39) T1158A probably damaging Het
Zfp616 T A 11: 73,976,276 (GRCm39) N848K 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
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
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'- AAATTGGCCCGCCCATTTTC -3'
(R):5'- CTGAGGATGAAATGGCAGCC -3'

Sequencing Primer
(F):5'- CTTCCTTAGGATTGGCTGTCTG -3'
(R):5'- CACAGAGTAAAGGGCCGCC -3'
Posted On 2018-09-12