Incidental Mutation 'R4367:Ubqlnl'
ID 325805
Institutional Source Beutler Lab
Gene Symbol Ubqlnl
Ensembl Gene ENSMUSG00000051437
Gene Name ubiquilin-like
Synonyms 4922504M18Rik, LOC244179
MMRRC Submission 041673-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R4367 (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: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb2 T C 18: 62,312,127 (GRCm39) I233V probably damaging Het
Alox5 T A 6: 116,437,924 (GRCm39) Y21F possibly damaging Het
Ank2 T C 3: 126,739,798 (GRCm39) T1942A probably benign Het
Aoc1l1 T C 6: 48,953,064 (GRCm39) S330P probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bckdk C T 7: 127,505,591 (GRCm39) A238V probably benign Het
Casp1 A G 9: 5,299,333 (GRCm39) T21A probably benign Het
Ccdc39 T C 3: 33,880,671 (GRCm39) H432R probably benign Het
Cttnbp2 A C 6: 18,405,248 (GRCm39) C574G probably damaging Het
Cyp1a1 T C 9: 57,607,432 (GRCm39) V20A probably benign Het
Dhx38 C T 8: 110,279,763 (GRCm39) V976I probably damaging Het
Dnah6 A G 6: 73,126,467 (GRCm39) S1287P possibly damaging Het
Dnttip2 T C 3: 122,070,146 (GRCm39) S454P probably damaging Het
Drp2 A T X: 133,335,884 (GRCm39) probably benign Het
Flcn C T 11: 59,694,610 (GRCm39) V121I possibly damaging Het
Fmo1 G C 1: 162,661,217 (GRCm39) Y355* probably null Het
Git2 T A 5: 114,902,727 (GRCm39) H138L probably damaging Het
Gpr162 G A 6: 124,838,658 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnt1 T C 2: 25,797,638 (GRCm39) I881T probably damaging Het
Lama3 T A 18: 12,646,747 (GRCm39) C1754S probably damaging Het
Mpp3 A T 11: 101,914,246 (GRCm39) D116E probably benign Het
Myh11 T C 16: 14,036,747 (GRCm39) D985G probably damaging Het
Necap1 T C 6: 122,864,337 (GRCm39) V273A probably damaging Het
Nlrc5 T C 8: 95,203,192 (GRCm39) S431P probably damaging Het
Nutm2 A T 13: 50,623,920 (GRCm39) T206S probably benign Het
Or2d3 GAACAACAACAA GAACAACAA 7: 106,490,567 (GRCm39) probably benign Het
Or5p79 C T 7: 108,221,096 (GRCm39) L26F probably benign Het
Or8g19 G A 9: 39,055,725 (GRCm39) A110T probably damaging Het
Phactr2 A G 10: 13,129,564 (GRCm39) S235P probably damaging Het
Podnl1 G A 8: 84,853,897 (GRCm39) R89H probably benign Het
Prpf38b T C 3: 108,818,487 (GRCm39) Y91C probably damaging Het
Radil C T 5: 142,480,560 (GRCm39) A632T probably benign Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sdf2 C T 11: 78,141,863 (GRCm39) T66I probably damaging Het
Specc1 T C 11: 62,009,356 (GRCm39) S371P probably damaging Het
Suco T C 1: 161,674,799 (GRCm39) E416G probably damaging Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tars3 C T 7: 65,332,567 (GRCm39) T556M probably damaging Het
Tcirg1 C T 19: 3,949,069 (GRCm39) D407N probably damaging Het
Tefm G T 11: 80,031,156 (GRCm39) L27I probably benign Het
Tenm2 A G 11: 35,918,225 (GRCm39) I1845T probably benign Het
Tfam A T 10: 71,069,233 (GRCm39) I119N probably damaging Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Trpm6 T C 19: 18,804,889 (GRCm39) I947T probably damaging Het
Usp54 T C 14: 20,611,202 (GRCm39) T1205A probably benign Het
Vmn2r25 T C 6: 123,805,496 (GRCm39) R454G probably damaging Het
Xylb T C 9: 119,217,781 (GRCm39) V477A 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
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
R4449: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'- GGATACTCAGGGTTCTGTGC -3'
(R):5'- TGGTAACCAACAATCCCTGC -3'

Sequencing Primer
(F):5'- CTGGCTGCTGGATCTGCATTATC -3'
(R):5'- TCCCTGCCATCAAGACAGG -3'
Posted On 2015-07-06