Incidental Mutation 'R4449:Ubqlnl'
ID 328882
Institutional Source Beutler Lab
Gene Symbol Ubqlnl
Ensembl Gene ENSMUSG00000051437
Gene Name ubiquilin-like
Synonyms 4922504M18Rik, LOC244179
MMRRC Submission 041710-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R4449 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103797466-103799763 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103798925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 191 (V191M)
Ref Sequence ENSEMBL: ENSMUSP00000056365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051137] [ENSMUST00000059121] [ENSMUST00000154555]
AlphaFold Q14DL0
PDB Structure Solution Structure of RSGI RUH-056, a UBA domain from mouse cDNA [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000051137
SMART Domains Protein: ENSMUSP00000052174
Gene: ENSMUSG00000044265

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
coiled coil region 47 85 N/A INTRINSIC
coiled coil region 157 198 N/A INTRINSIC
OLF 211 468 3.13e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000059121
AA Change: V191M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000056365
Gene: ENSMUSG00000051437
AA Change: V191M

DomainStartEndE-ValueType
UBQ 31 101 5.13e-16 SMART
Blast:STI1 199 237 8e-11 BLAST
low complexity region 339 350 N/A INTRINSIC
low complexity region 402 419 N/A INTRINSIC
PDB:2DNA|A 561 610 3e-26 PDB
Blast:UBA 568 604 1e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000154555
SMART Domains Protein: ENSMUSP00000117893
Gene: ENSMUSG00000044265

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
coiled coil region 47 123 N/A INTRINSIC
OLF 136 304 3.65e-10 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (47/48)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal in terms of growth and behavior. Adult males are fertile and show no apparent defects in spermatogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgap3 A T 15: 83,218,759 (GRCm39) Y105N probably damaging Het
Arid3b T A 9: 57,705,404 (GRCm39) K266* probably null Het
Bend3 A G 10: 43,388,079 (GRCm39) E824G possibly damaging Het
Bpifb6 A G 2: 153,748,688 (GRCm39) E228G possibly damaging Het
Cadm1 T A 9: 47,725,286 (GRCm39) probably benign Het
Cadm1 C T 9: 47,441,735 (GRCm39) A22V possibly damaging Het
Cntrob C A 11: 69,196,375 (GRCm39) D687Y probably benign Het
Dap3 A T 3: 88,857,185 (GRCm39) probably benign Het
Ddc T C 11: 11,785,802 (GRCm39) D295G probably damaging Het
Fut10 T A 8: 31,726,285 (GRCm39) Y347N probably damaging Het
Galnt2 A G 8: 125,022,116 (GRCm39) D14G probably benign Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Helz T C 11: 107,494,989 (GRCm39) V321A probably benign Het
Hnrnpul1 T C 7: 25,421,709 (GRCm39) probably benign Het
Hsdl2 T A 4: 59,617,692 (GRCm39) I353K possibly damaging Het
Igkv3-2 G A 6: 70,675,825 (GRCm39) A45T probably benign Het
Kcnh6 A G 11: 105,909,762 (GRCm39) Y429C probably damaging Het
Luzp1 T A 4: 136,268,174 (GRCm39) N132K probably damaging Het
Mlycd T A 8: 120,137,144 (GRCm39) Y455N probably damaging Het
Myl7 C T 11: 5,847,354 (GRCm39) D115N probably damaging Het
Or52s1 A T 7: 102,861,687 (GRCm39) I196F probably benign Het
Pcdh7 A G 5: 57,877,827 (GRCm39) T461A probably damaging Het
Pi4kb C T 3: 94,892,046 (GRCm39) S254L probably benign Het
Pitpnc1 A G 11: 107,107,535 (GRCm39) V257A probably benign Het
Prpf40b A G 15: 99,212,544 (GRCm39) D596G probably damaging Het
Rngtt T C 4: 33,330,865 (GRCm39) F156S probably damaging Het
Sema3c A G 5: 17,781,844 (GRCm39) probably benign Het
Shisa6 T C 11: 66,416,244 (GRCm39) T183A probably benign Het
Skint3 T A 4: 112,127,206 (GRCm39) V287E possibly damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Slc17a3 A T 13: 24,040,715 (GRCm39) S392C probably damaging Het
Snx14 T C 9: 88,305,052 (GRCm39) I81V probably benign Het
Tdrd6 C T 17: 43,940,626 (GRCm39) G141S probably benign Het
Trappc12 A T 12: 28,797,234 (GRCm39) D99E probably benign Het
Trim34b T C 7: 103,984,935 (GRCm39) C318R probably benign Het
Ttc39a T C 4: 109,299,500 (GRCm39) I449T possibly damaging Het
Twsg1 A C 17: 66,233,305 (GRCm39) V215G possibly damaging Het
Ubr1 A G 2: 120,776,862 (GRCm39) V293A possibly damaging Het
Unk G A 11: 115,944,460 (GRCm39) G404S probably damaging Het
Virma T C 4: 11,498,828 (GRCm39) probably null Het
Vps13b T C 15: 35,876,939 (GRCm39) V2864A possibly damaging Het
Wdfy4 T A 14: 32,818,040 (GRCm39) R1492W probably damaging Het
Zcchc3 G C 2: 152,256,642 (GRCm39) P19R probably benign Het
Other mutations in Ubqlnl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Ubqlnl APN 7 103,798,372 (GRCm39) missense probably benign
IGL01592:Ubqlnl APN 7 103,799,496 (GRCm39) unclassified probably benign
IGL01972:Ubqlnl APN 7 103,798,904 (GRCm39) missense probably benign 0.00
IGL02266:Ubqlnl APN 7 103,798,754 (GRCm39) nonsense probably null
IGL02447:Ubqlnl APN 7 103,797,856 (GRCm39) missense probably damaging 1.00
IGL03232:Ubqlnl APN 7 103,797,836 (GRCm39) missense possibly damaging 0.71
FR4737:Ubqlnl UTSW 7 103,799,042 (GRCm39) unclassified probably benign
R0066:Ubqlnl UTSW 7 103,798,145 (GRCm39) missense probably damaging 0.98
R0066:Ubqlnl UTSW 7 103,798,145 (GRCm39) missense probably damaging 0.98
R0077:Ubqlnl UTSW 7 103,799,254 (GRCm39) missense probably damaging 1.00
R0109:Ubqlnl UTSW 7 103,799,399 (GRCm39) missense probably damaging 1.00
R0109:Ubqlnl UTSW 7 103,799,399 (GRCm39) missense probably damaging 1.00
R0517:Ubqlnl UTSW 7 103,797,845 (GRCm39) missense probably damaging 1.00
R1129:Ubqlnl UTSW 7 103,798,857 (GRCm39) missense probably damaging 0.98
R1885:Ubqlnl UTSW 7 103,799,272 (GRCm39) missense possibly damaging 0.88
R1987:Ubqlnl UTSW 7 103,797,692 (GRCm39) missense probably benign
R2151:Ubqlnl UTSW 7 103,797,890 (GRCm39) missense probably benign 0.00
R2152:Ubqlnl UTSW 7 103,797,890 (GRCm39) missense probably benign 0.00
R2153:Ubqlnl UTSW 7 103,797,890 (GRCm39) missense probably benign 0.00
R3712:Ubqlnl UTSW 7 103,798,345 (GRCm39) missense probably benign 0.03
R3914:Ubqlnl UTSW 7 103,798,813 (GRCm39) missense probably benign
R4367:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4404:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4405:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4406:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4407:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4458:Ubqlnl UTSW 7 103,798,396 (GRCm39) missense probably benign 0.01
R4508:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4516:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4517:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4518:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4522:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4523:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4524:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4529:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4531:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4738:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4739:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4740:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R5339:Ubqlnl UTSW 7 103,798,972 (GRCm39) missense probably benign 0.00
R5357:Ubqlnl UTSW 7 103,798,138 (GRCm39) missense probably damaging 1.00
R5386:Ubqlnl UTSW 7 103,798,424 (GRCm39) missense probably benign 0.01
R5542:Ubqlnl UTSW 7 103,798,904 (GRCm39) nonsense probably null
R5588:Ubqlnl UTSW 7 103,798,339 (GRCm39) missense probably damaging 1.00
R6058:Ubqlnl UTSW 7 103,797,959 (GRCm39) missense probably benign
R6084:Ubqlnl UTSW 7 103,797,905 (GRCm39) missense probably benign 0.01
R6207:Ubqlnl UTSW 7 103,797,915 (GRCm39) missense possibly damaging 0.73
R6794:Ubqlnl UTSW 7 103,797,992 (GRCm39) missense probably benign 0.34
R7500:Ubqlnl UTSW 7 103,798,048 (GRCm39) missense probably damaging 1.00
R7575:Ubqlnl UTSW 7 103,797,697 (GRCm39) missense probably damaging 1.00
R8491:Ubqlnl UTSW 7 103,798,582 (GRCm39) missense probably benign 0.22
R8757:Ubqlnl UTSW 7 103,799,206 (GRCm39) missense probably damaging 1.00
R8759:Ubqlnl UTSW 7 103,799,206 (GRCm39) missense probably damaging 1.00
R9324:Ubqlnl UTSW 7 103,798,962 (GRCm39) missense possibly damaging 0.74
R9366:Ubqlnl UTSW 7 103,798,592 (GRCm39) missense possibly damaging 0.75
R9651:Ubqlnl UTSW 7 103,799,122 (GRCm39) missense possibly damaging 0.46
Z1088:Ubqlnl UTSW 7 103,799,200 (GRCm39) missense probably damaging 1.00
Z1177:Ubqlnl UTSW 7 103,797,835 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCAAGAATGGCTGTGAGTTTGG -3'
(R):5'- ATCCCTGCCATCAAGACAGG -3'

Sequencing Primer
(F):5'- GTGGATACTCAGGGTTCTGTGC -3'
(R):5'- CCCTAAAGGAAATAGCAGCATG -3'
Posted On 2015-07-21