Incidental Mutation 'R3927:Ubqln5'
ID 308330
Institutional Source Beutler Lab
Gene Symbol Ubqln5
Ensembl Gene ENSMUSG00000055643
Gene Name ubiquilin 5
Synonyms 4931431F19Rik
MMRRC Submission 040822-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R3927 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103777120-103779030 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103777678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 382 (L382P)
Ref Sequence ENSEMBL: ENSMUSP00000062054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053743] [ENSMUST00000138055]
AlphaFold Q9D4I8
PDB Structure Solution Structure of RSGI RUH-016, a UBA Domain from mouse cDNA [SOLUTION NMR]
Solution Structure of the N-terminal Ubiquitin-like Domain in the 4931431F19Rik Protein [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000053743
AA Change: L382P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062054
Gene: ENSMUSG00000055643
AA Change: L382P

DomainStartEndE-ValueType
UBQ 24 94 7.97e-13 SMART
low complexity region 365 376 N/A INTRINSIC
UBA 468 506 2.14e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138055
SMART Domains Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency 95% (40/42)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A G 2: 103,538,563 (GRCm39) probably null Het
Alpk1 T C 3: 127,471,365 (GRCm39) H1039R probably damaging Het
Avpr1a A G 10: 122,285,616 (GRCm39) S303G probably benign Het
Axdnd1 A G 1: 156,246,840 (GRCm39) L79S probably damaging Het
Baz1a A G 12: 54,967,928 (GRCm39) I667T possibly damaging Het
Bend5 A G 4: 111,305,802 (GRCm39) Y282C possibly damaging Het
Clstn3 T C 6: 124,428,327 (GRCm39) D438G probably damaging Het
Cog3 A G 14: 75,980,998 (GRCm39) probably benign Het
Cyp2j6 T C 4: 96,441,525 (GRCm39) N55S probably benign Het
Eif4b G A 15: 101,992,745 (GRCm39) G101R probably damaging Het
Epha2 T C 4: 141,033,861 (GRCm39) L40P probably damaging Het
Fig4 A G 10: 41,139,135 (GRCm39) V356A probably benign Het
Hal T C 10: 93,349,888 (GRCm39) probably benign Het
Helz A G 11: 107,576,118 (GRCm39) Y1770C unknown Het
Meis3 A G 7: 15,911,419 (GRCm39) T39A probably benign Het
Nod1 G T 6: 54,921,902 (GRCm39) R139S probably benign Het
Or6n2 A T 1: 173,896,878 (GRCm39) N5Y probably damaging Het
Pacsin3 C T 2: 91,093,286 (GRCm39) probably null Het
Plekhh1 T A 12: 79,100,422 (GRCm39) I130N probably damaging Het
Plxna2 G A 1: 194,428,465 (GRCm39) E512K probably benign Het
Ppp1r9a A G 6: 5,057,531 (GRCm39) I215M probably damaging Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Sap130 A T 18: 31,807,435 (GRCm39) H414L possibly damaging Het
Slc33a1 A G 3: 63,871,145 (GRCm39) I156T probably benign Het
Slc37a2 G A 9: 37,146,803 (GRCm39) T338M probably damaging Het
Spinkl T A 18: 44,302,230 (GRCm39) probably null Het
Tmc5 T A 7: 118,251,878 (GRCm39) L657* probably null Het
Tmem217 A G 17: 29,745,677 (GRCm39) S18P probably damaging Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,465,042 (GRCm39) probably benign Het
Tubb4a A G 17: 57,387,967 (GRCm39) V353A probably benign Het
Ube3b T C 5: 114,553,741 (GRCm39) F974L probably benign Het
Ufsp2 T A 8: 46,436,723 (GRCm39) probably null Het
Unkl C T 17: 25,448,303 (GRCm39) T66I probably damaging Het
Xrn2 T A 2: 146,880,109 (GRCm39) N477K probably benign Het
Zfhx4 C T 3: 5,468,418 (GRCm39) P2859S probably benign Het
Zzef1 T C 11: 72,749,208 (GRCm39) S899P probably damaging Het
Zzz3 T C 3: 152,161,499 (GRCm39) Y298H probably damaging Het
Other mutations in Ubqln5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:Ubqln5 APN 7 103,777,634 (GRCm39) missense possibly damaging 0.83
IGL02127:Ubqln5 APN 7 103,778,689 (GRCm39) missense probably damaging 0.99
IGL02565:Ubqln5 APN 7 103,778,279 (GRCm39) nonsense probably null
R1181:Ubqln5 UTSW 7 103,777,948 (GRCm39) missense probably damaging 0.99
R1962:Ubqln5 UTSW 7 103,778,134 (GRCm39) missense probably damaging 0.98
R1962:Ubqln5 UTSW 7 103,778,095 (GRCm39) missense possibly damaging 0.83
R1964:Ubqln5 UTSW 7 103,778,095 (GRCm39) missense possibly damaging 0.83
R1992:Ubqln5 UTSW 7 103,778,741 (GRCm39) missense probably damaging 1.00
R1998:Ubqln5 UTSW 7 103,777,948 (GRCm39) missense probably damaging 0.99
R4831:Ubqln5 UTSW 7 103,778,829 (GRCm39) intron probably benign
R5699:Ubqln5 UTSW 7 103,778,632 (GRCm39) missense possibly damaging 0.78
R5840:Ubqln5 UTSW 7 103,778,161 (GRCm39) missense possibly damaging 0.83
R5858:Ubqln5 UTSW 7 103,778,018 (GRCm39) missense probably benign 0.17
R5907:Ubqln5 UTSW 7 103,777,781 (GRCm39) missense possibly damaging 0.55
R6477:Ubqln5 UTSW 7 103,777,465 (GRCm39) missense probably damaging 0.97
R6602:Ubqln5 UTSW 7 103,778,696 (GRCm39) missense probably benign 0.07
R6919:Ubqln5 UTSW 7 103,778,215 (GRCm39) missense probably benign 0.15
R6981:Ubqln5 UTSW 7 103,777,808 (GRCm39) missense probably benign 0.29
R8153:Ubqln5 UTSW 7 103,778,011 (GRCm39) missense possibly damaging 0.52
R8712:Ubqln5 UTSW 7 103,778,322 (GRCm39) missense probably benign 0.04
R8787:Ubqln5 UTSW 7 103,778,329 (GRCm39) missense probably benign 0.01
R9398:Ubqln5 UTSW 7 103,777,985 (GRCm39) missense probably benign 0.05
X0028:Ubqln5 UTSW 7 103,778,615 (GRCm39) missense probably damaging 1.00
Z1088:Ubqln5 UTSW 7 103,778,178 (GRCm39) missense possibly damaging 0.83
Z1176:Ubqln5 UTSW 7 103,778,125 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- GCAGTGCAGTTTGGGAAGAC -3'
(R):5'- CCCTTGGAGAAAGTCCCTCTAAC -3'

Sequencing Primer
(F):5'- TGGGAACAGGCTCTGGC -3'
(R):5'- TGGAGAAAGTCCCTCTAACCTGTC -3'
Posted On 2015-04-17