Incidental Mutation 'R5778:Ubqln1'
ID 446845
Institutional Source Beutler Lab
Gene Symbol Ubqln1
Ensembl Gene ENSMUSG00000005312
Gene Name ubiquilin 1
Synonyms XDRP1, 1110046H03Rik, 1810030E05Rik, Plic-1, D13Ertd372e, DA41, Dsk2
MMRRC Submission 043376-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.719) question?
Stock # R5778 (G1)
Quality Score 173
Status Not validated
Chromosome 13
Chromosomal Location 58323970-58363467 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 58331131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 365 (M365I)
Ref Sequence ENSEMBL: ENSMUSP00000075782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058735] [ENSMUST00000076454]
AlphaFold Q8R317
Predicted Effect probably benign
Transcript: ENSMUST00000058735
AA Change: M365I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000050191
Gene: ENSMUSG00000005312
AA Change: M365I

DomainStartEndE-ValueType
UBQ 28 98 7.78e-16 SMART
low complexity region 136 154 N/A INTRINSIC
STI1 173 201 6e0 SMART
STI1 203 242 6.75e-10 SMART
low complexity region 316 356 N/A INTRINSIC
STI1 381 428 2.62e-7 SMART
STI1 432 464 3.1e0 SMART
low complexity region 483 499 N/A INTRINSIC
UBA 540 578 1.77e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000076454
AA Change: M365I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000075782
Gene: ENSMUSG00000005312
AA Change: M365I

DomainStartEndE-ValueType
UBQ 28 98 7.78e-16 SMART
low complexity region 136 154 N/A INTRINSIC
STI1 173 201 6e0 SMART
STI1 203 242 6.75e-10 SMART
low complexity region 316 356 N/A INTRINSIC
STI1 381 420 2.24e-6 SMART
low complexity region 455 471 N/A INTRINSIC
UBA 512 550 1.77e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224851
Predicted Effect unknown
Transcript: ENSMUST00000225645
AA Change: M2I
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225818
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null animals display impaired degradation of ubiquitinated proteins in the brain, increased ischemia/reperfusion-caused brain injury, and slower functional recovery after injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta1 A G 8: 124,618,864 (GRCm39) S340P probably benign Het
Anpep T C 7: 79,486,139 (GRCm39) T528A probably benign Het
Apob T A 12: 8,065,074 (GRCm39) D4014E probably benign Het
Atp23 A G 10: 126,735,451 (GRCm39) C78R probably damaging Het
Atp8b3 A G 10: 80,356,007 (GRCm39) F1235S probably benign Het
B3gnt3 T C 8: 72,145,582 (GRCm39) D262G probably benign Het
Bltp1 A T 3: 37,012,863 (GRCm39) I1848F probably damaging Het
Brca1 G A 11: 101,416,127 (GRCm39) A669V possibly damaging Het
Caprin2 A T 6: 148,770,820 (GRCm39) S391R probably benign Het
Cdh15 G A 8: 123,583,326 (GRCm39) R43Q possibly damaging Het
Celsr1 A T 15: 85,917,156 (GRCm39) N272K probably damaging Het
Cryzl2 T G 1: 157,298,357 (GRCm39) S249A probably benign Het
Dsg1b A T 18: 20,542,279 (GRCm39) T929S possibly damaging Het
Dusp16 G T 6: 134,695,277 (GRCm39) T518N probably benign Het
Eno2 A T 6: 124,743,261 (GRCm39) H158Q probably damaging Het
Ep400 T C 5: 110,867,450 (GRCm39) D954G unknown Het
Erg28 T C 12: 85,866,254 (GRCm39) T75A possibly damaging Het
Fam135b T A 15: 71,350,881 (GRCm39) T332S probably damaging Het
Fam221b A G 4: 43,660,683 (GRCm39) F357L probably damaging Het
Fcgr2b C T 1: 170,790,957 (GRCm39) G279R probably damaging Het
Fryl A T 5: 73,230,121 (GRCm39) L1679M probably damaging Het
Galm T A 17: 80,435,146 (GRCm39) M1K probably null Het
Gsg1 A T 6: 135,221,348 (GRCm39) I17N possibly damaging Het
Hif3a A T 7: 16,785,909 (GRCm39) I129N probably damaging Het
Ighv1-11 A T 12: 114,576,051 (GRCm39) W55R probably damaging Het
Ighv1-20 C A 12: 114,687,497 (GRCm39) K82N probably benign Het
Igsf21 C T 4: 139,764,832 (GRCm39) E148K probably benign Het
Il22b C A 10: 118,130,768 (GRCm39) E43* probably null Het
Klhdc7b A T 15: 89,271,523 (GRCm39) R802W probably damaging Het
Krt8 T C 15: 101,912,374 (GRCm39) I101V probably damaging Het
Lrrc7 A G 3: 157,876,380 (GRCm39) L570P probably damaging Het
Map4k1 C G 7: 28,693,646 (GRCm39) N412K probably benign Het
Metrnl A T 11: 121,605,564 (GRCm39) I118F possibly damaging Het
Mmp12 T A 9: 7,350,106 (GRCm39) D202E probably damaging Het
Mpp2 A T 11: 101,955,269 (GRCm39) S119T probably benign Het
Ncoa6 T C 2: 155,248,688 (GRCm39) T1539A probably benign Het
Nlrc5 A G 8: 95,206,154 (GRCm39) T715A possibly damaging Het
Nsd1 T A 13: 55,454,792 (GRCm39) N1963K probably damaging Het
Nsd3 T C 8: 26,149,834 (GRCm39) Y340H probably damaging Het
Nwd1 T A 8: 73,419,745 (GRCm39) S977T probably damaging Het
Or5d39 T A 2: 87,979,961 (GRCm39) Y134F probably damaging Het
Or7d10 G T 9: 19,832,337 (GRCm39) M277I probably benign Het
Pcdh8 T C 14: 80,008,197 (GRCm39) E122G probably damaging Het
Pcmtd2 A C 2: 181,496,991 (GRCm39) T323P probably benign Het
Pign C A 1: 105,519,447 (GRCm39) G492C probably damaging Het
Plppr3 A G 10: 79,702,337 (GRCm39) V245A possibly damaging Het
Prl7a2 C T 13: 27,844,983 (GRCm39) W134* probably null Het
Prom1 A T 5: 44,164,389 (GRCm39) N722K probably benign Het
Rasal2 A T 1: 156,988,860 (GRCm39) N663K probably damaging Het
Rgl1 G T 1: 152,428,172 (GRCm39) H315Q probably benign Het
Smpdl3a C A 10: 57,677,097 (GRCm39) A65E probably damaging Het
Spdye4b G A 5: 143,188,142 (GRCm39) D212N probably damaging Het
Tafa3 T A 3: 104,679,505 (GRCm39) K126N probably damaging Het
Tanc1 G T 2: 59,529,691 (GRCm39) probably null Het
Trio A G 15: 27,856,250 (GRCm39) V706A probably benign Het
Tshz1 T A 18: 84,033,805 (GRCm39) Q201L probably damaging Het
Usp42 A T 5: 143,705,331 (GRCm39) Y383N probably damaging Het
Vmn1r189 A G 13: 22,286,552 (GRCm39) I95T probably damaging Het
Vmn2r49 A T 7: 9,710,274 (GRCm39) S819R probably damaging Het
Other mutations in Ubqln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Ubqln1 APN 13 58,325,806 (GRCm39) nonsense probably null
IGL01566:Ubqln1 APN 13 58,327,481 (GRCm39) splice site probably null
IGL02160:Ubqln1 APN 13 58,339,951 (GRCm39) missense probably damaging 1.00
IGL03171:Ubqln1 APN 13 58,328,672 (GRCm39) missense probably damaging 1.00
R0140:Ubqln1 UTSW 13 58,341,103 (GRCm39) missense probably damaging 1.00
R1676:Ubqln1 UTSW 13 58,327,205 (GRCm39) missense possibly damaging 0.67
R1712:Ubqln1 UTSW 13 58,339,895 (GRCm39) missense probably damaging 1.00
R4400:Ubqln1 UTSW 13 58,341,202 (GRCm39) missense probably damaging 1.00
R5194:Ubqln1 UTSW 13 58,346,847 (GRCm39) missense probably benign
R5419:Ubqln1 UTSW 13 58,330,997 (GRCm39) missense probably damaging 0.99
R6198:Ubqln1 UTSW 13 58,344,404 (GRCm39) missense probably benign
R7829:Ubqln1 UTSW 13 58,325,719 (GRCm39) missense probably damaging 1.00
R8479:Ubqln1 UTSW 13 58,339,653 (GRCm39) missense probably benign
R8523:Ubqln1 UTSW 13 58,339,569 (GRCm39) missense probably benign 0.00
R8834:Ubqln1 UTSW 13 58,331,058 (GRCm39) missense probably damaging 1.00
R9256:Ubqln1 UTSW 13 58,325,721 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCCTGTTTAGTTCAGAACACTC -3'
(R):5'- TGTGCCTTGGAGCCATAACC -3'

Sequencing Primer
(F):5'- GTTTAGTTCAGAACACTCTCAGCAC -3'
(R):5'- CCAAGTACAGTAAAGGTTGATCTG -3'
Posted On 2016-12-15