Incidental Mutation 'R6602:Ubqln5'
ID525354
Institutional Source Beutler Lab
Gene Symbol Ubqln5
Ensembl Gene ENSMUSG00000055643
Gene Nameubiquilin 5
Synonyms4931431F19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #R6602 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location104127912-104129826 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 104129489 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 43 (S43C)
Ref Sequence ENSEMBL: ENSMUSP00000062054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053743] [ENSMUST00000138055]
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 benign
Transcript: ENSMUST00000053743
AA Change: S43C

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000062054
Gene: ENSMUSG00000055643
AA Change: S43C

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik A G 8: 124,639,254 L250P probably damaging Het
4921539E11Rik T C 4: 103,255,572 H12R probably benign Het
Abca4 A C 3: 122,138,501 Q268P probably benign Het
Adgrf5 T A 17: 43,450,304 N963K probably benign Het
Arl10 A G 13: 54,578,937 D176G probably damaging Het
Btnl1 T A 17: 34,385,748 M501K probably damaging Het
Ccdc162 G T 10: 41,615,980 T1079K probably benign Het
Cd163 T A 6: 124,311,635 W342R probably damaging Het
Cd70 T C 17: 57,149,562 S14G probably benign Het
Chil4 C A 3: 106,210,590 K121N probably benign Het
Csf1r A G 18: 61,110,425 D171G possibly damaging Het
Cyp4a31 A T 4: 115,569,707 probably null Het
D3Ertd254e G T 3: 36,164,855 L341F possibly damaging Het
Dapk1 A T 13: 60,749,204 I746F probably benign Het
Erbb4 A G 1: 68,370,503 S192P probably damaging Het
Exoc8 C A 8: 124,896,411 V406L probably damaging Het
Fam168b C A 1: 34,836,741 G21V probably damaging Het
Greb1 A T 12: 16,709,440 V652E probably benign Het
Ift88 A G 14: 57,507,259 S745G probably benign Het
Il18bp T C 7: 102,016,030 probably benign Het
Il6st A G 13: 112,504,413 T908A probably damaging Het
Klk11 A G 7: 43,774,774 S6G probably benign Het
Mastl T C 2: 23,132,677 Y678C probably benign Het
Msra A T 14: 64,123,339 H184Q probably benign Het
Muc16 A C 9: 18,609,476 probably null Het
Myo3a T G 2: 22,577,787 L351R probably damaging Het
Npy5r GCTGTGAAACACTG GCTG 8: 66,681,540 probably null Het
Olfr463 T C 11: 87,893,652 T91A probably benign Het
Olfr830 A G 9: 18,875,849 D174G possibly damaging Het
Olfr867 C T 9: 20,055,046 R139Q probably benign Het
Pcdhb18 A T 18: 37,490,480 I288F probably damaging Het
Pitpna T G 11: 75,620,315 V238G possibly damaging Het
Ppfibp1 T A 6: 146,978,221 V81E possibly damaging Het
Rab11fip2 T A 19: 59,942,856 T49S probably damaging Het
Rsl24d1 T A 9: 73,113,510 I3N possibly damaging Het
Rtn1 T C 12: 72,219,318 N161S probably damaging Het
Shank1 A G 7: 44,352,336 I1151V probably benign Het
Slc34a3 A G 2: 25,229,209 S550P probably damaging Het
Slc4a1ap A G 5: 31,527,641 H207R probably damaging Het
Sphkap T A 1: 83,275,758 K1423N possibly damaging Het
Ttn A G 2: 76,881,753 probably benign Het
Vps13d G A 4: 145,103,664 probably benign Het
Wwp1 A T 4: 19,641,816 V413D probably damaging Het
Other mutations in Ubqln5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:Ubqln5 APN 7 104128427 missense possibly damaging 0.83
IGL02127:Ubqln5 APN 7 104129482 missense probably damaging 0.99
IGL02565:Ubqln5 APN 7 104129072 nonsense probably null
R1181:Ubqln5 UTSW 7 104128741 missense probably damaging 0.99
R1962:Ubqln5 UTSW 7 104128888 missense possibly damaging 0.83
R1962:Ubqln5 UTSW 7 104128927 missense probably damaging 0.98
R1964:Ubqln5 UTSW 7 104128888 missense possibly damaging 0.83
R1992:Ubqln5 UTSW 7 104129534 missense probably damaging 1.00
R1998:Ubqln5 UTSW 7 104128741 missense probably damaging 0.99
R3927:Ubqln5 UTSW 7 104128471 missense probably damaging 1.00
R4831:Ubqln5 UTSW 7 104129622 intron probably benign
R5699:Ubqln5 UTSW 7 104129425 missense possibly damaging 0.78
R5840:Ubqln5 UTSW 7 104128954 missense possibly damaging 0.83
R5858:Ubqln5 UTSW 7 104128811 missense probably benign 0.17
R5907:Ubqln5 UTSW 7 104128574 missense possibly damaging 0.55
R6477:Ubqln5 UTSW 7 104128258 missense probably damaging 0.97
R6919:Ubqln5 UTSW 7 104129008 missense probably benign 0.15
R6981:Ubqln5 UTSW 7 104128601 missense probably benign 0.29
R8153:Ubqln5 UTSW 7 104128804 missense possibly damaging 0.52
X0028:Ubqln5 UTSW 7 104129408 missense probably damaging 1.00
Z1088:Ubqln5 UTSW 7 104128971 missense possibly damaging 0.83
Z1176:Ubqln5 UTSW 7 104128918 missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- GCCTACCAGAGTTCCTGTAC -3'
(R):5'- TCAGTGCCACATCAAAGCTTC -3'

Sequencing Primer
(F):5'- GTACAGGCTGACCCTTTCAAATGAG -3'
(R):5'- CATCAAAGCTTCTGCAGGTG -3'
Posted On2018-06-22