Incidental Mutation 'IGL02160:Ubqln1'
ID282437
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubqln1
Ensembl Gene ENSMUSG00000005312
Gene Nameubiquilin 1
SynonymsXDRP1, Plic-1, Dsk2, DA41, D13Ertd372e, 1110046H03Rik, 1810030E05Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.551) question?
Stock #IGL02160
Quality Score
Status
Chromosome13
Chromosomal Location58176156-58215653 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 58192137 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 261 (N261K)
Ref Sequence ENSEMBL: ENSMUSP00000075782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058735] [ENSMUST00000076454]
Predicted Effect probably damaging
Transcript: ENSMUST00000058735
AA Change: N261K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000050191
Gene: ENSMUSG00000005312
AA Change: N261K

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 damaging
Transcript: ENSMUST00000076454
AA Change: N261K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075782
Gene: ENSMUSG00000005312
AA Change: N261K

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
Coding Region Coverage
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik A T 11: 29,823,593 Y621* probably null Het
Acat1 A G 9: 53,591,987 V184A probably benign Het
Adam19 G A 11: 46,139,695 C750Y probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cabp2 T A 19: 4,084,868 probably benign Het
Carmil3 T C 14: 55,493,558 M94T possibly damaging Het
Ccdc107 A G 4: 43,495,736 D213G probably damaging Het
Cdh23 T C 10: 60,597,765 probably benign Het
Cfhr2 T A 1: 139,810,926 D299V probably benign Het
Clcn7 T C 17: 25,149,030 probably benign Het
Clspn G A 4: 126,581,510 E1019K probably benign Het
Ctnna3 A G 10: 64,250,698 T350A probably benign Het
Dmbt1 G A 7: 131,082,688 G638E probably damaging Het
Ext2 A T 2: 93,813,584 D117E probably benign Het
Ffar4 T A 19: 38,097,455 V110D possibly damaging Het
Foxred2 G T 15: 77,955,650 Q147K probably benign Het
Gm960 T C 19: 4,663,584 D276G probably damaging Het
Heatr9 T C 11: 83,518,825 D107G probably benign Het
Hmgxb3 G A 18: 61,171,236 A94V probably damaging Het
Htr5b A T 1: 121,528,045 S49T possibly damaging Het
Il1rl1 A T 1: 40,461,837 M458L probably benign Het
Il23r A T 6: 67,423,578 N589K probably benign Het
Kbtbd11 G A 8: 15,028,801 V467M probably damaging Het
Kidins220 T A 12: 25,004,111 Y537N probably damaging Het
Kif27 T A 13: 58,325,998 E728D probably damaging Het
Lum T C 10: 97,568,581 S113P probably damaging Het
Mkln1 A G 6: 31,492,791 probably benign Het
Mmp17 A G 5: 129,595,569 D195G possibly damaging Het
Naa38 T A 11: 69,396,368 probably benign Het
Naalad2 G A 9: 18,379,937 A191V probably damaging Het
Naip6 A T 13: 100,299,425 H863Q probably benign Het
Ncoa6 A G 2: 155,421,083 V477A possibly damaging Het
Nipal3 G T 4: 135,474,417 Y153* probably null Het
Olfr1259 G T 2: 89,943,805 H103Q probably damaging Het
Olfr1279 G A 2: 111,306,798 V198I probably benign Het
Olfr1413 T A 1: 92,573,357 L62Q probably damaging Het
Olfr270 A G 4: 52,971,194 D191G probably damaging Het
Olfr982 A T 9: 40,075,186 N297I probably damaging Het
Pik3c2a G A 7: 116,388,064 P541S probably damaging Het
Ppargc1b A T 18: 61,310,435 D552E probably damaging Het
Ppfia3 C A 7: 45,360,051 probably benign Het
Prcp G A 7: 92,917,761 S227N probably benign Het
Ptprq T A 10: 107,653,565 T900S probably benign Het
Ralgapa2 G A 2: 146,348,440 probably benign Het
Rcsd1 A G 1: 165,657,579 S102P probably damaging Het
Rfwd3 T A 8: 111,273,075 N757I possibly damaging Het
Rnf217 A T 10: 31,505,771 probably null Het
Scn2a A G 2: 65,730,116 D1230G probably damaging Het
Sdc3 T C 4: 130,818,575 probably benign Het
Slc27a4 G T 2: 29,805,962 D170Y probably benign Het
Tcof1 A G 18: 60,848,743 probably benign Het
Ticam1 T A 17: 56,270,560 I512F possibly damaging Het
Ticrr T C 7: 79,694,019 C1211R probably benign Het
Tlr2 A T 3: 83,837,371 N468K possibly damaging Het
Tmod4 T C 3: 95,129,113 probably benign Het
Tnxb T C 17: 34,714,745 S2380P probably benign Het
Tox A G 4: 6,711,537 V309A probably damaging Het
Tpgs2 A G 18: 25,140,580 F175L possibly damaging Het
Trim43b A G 9: 89,091,630 S17P probably benign Het
Ttc21a G T 9: 119,956,923 L662F probably damaging Het
Umodl1 T C 17: 30,986,117 V562A probably damaging Het
Unc45b C T 11: 82,940,181 probably benign Het
Vars T A 17: 35,001,502 I20N probably damaging Het
Vcan T C 13: 89,684,493 N3092D probably damaging Het
Wdr66 A T 5: 123,256,018 E323D unknown Het
Zc3h6 G T 2: 128,997,685 E139D probably benign Het
Other mutations in Ubqln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Ubqln1 APN 13 58177992 nonsense probably null
IGL01566:Ubqln1 APN 13 58179667 splice site probably null
IGL03171:Ubqln1 APN 13 58180858 missense probably damaging 1.00
R0140:Ubqln1 UTSW 13 58193289 missense probably damaging 1.00
R1676:Ubqln1 UTSW 13 58179391 missense possibly damaging 0.67
R1712:Ubqln1 UTSW 13 58192081 missense probably damaging 1.00
R4400:Ubqln1 UTSW 13 58193388 missense probably damaging 1.00
R5194:Ubqln1 UTSW 13 58199033 missense probably benign
R5419:Ubqln1 UTSW 13 58183183 missense probably damaging 0.99
R5778:Ubqln1 UTSW 13 58183317 missense probably benign 0.00
R6198:Ubqln1 UTSW 13 58196590 missense probably benign
R7829:Ubqln1 UTSW 13 58177905 missense probably damaging 1.00
Posted On2015-04-16