Incidental Mutation 'R5542:Ubqlnl'
ID 436033
Institutional Source Beutler Lab
Gene Symbol Ubqlnl
Ensembl Gene ENSMUSG00000051437
Gene Name ubiquilin-like
Synonyms 4922504M18Rik, LOC244179
MMRRC Submission 043100-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R5542 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103797466-103799763 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 103798904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 198 (Q198*)
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 null
Transcript: ENSMUST00000059121
AA Change: Q198*
SMART Domains Protein: ENSMUSP00000056365
Gene: ENSMUSG00000051437
AA Change: Q198*

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 C T 3: 59,932,484 (GRCm39) T333I probably damaging Het
Acacb C T 5: 114,333,798 (GRCm39) R574C probably damaging Het
Actr10 T C 12: 71,001,430 (GRCm39) probably benign Het
Ankdd1a T A 9: 65,411,472 (GRCm39) probably null Het
Anks4b C T 7: 119,781,646 (GRCm39) Q226* probably null Het
AW146154 C A 7: 41,130,801 (GRCm39) G105V probably benign Het
Cdh4 T A 2: 179,502,019 (GRCm39) N326K probably damaging Het
Cnbd1 T C 4: 18,860,517 (GRCm39) T410A possibly damaging Het
Cndp2 A T 18: 84,690,201 (GRCm39) M247K probably damaging Het
Crx G A 7: 15,602,262 (GRCm39) R139C probably damaging Het
Ctrc A G 4: 141,571,037 (GRCm39) Y68H probably damaging Het
Ddx4 T C 13: 112,757,779 (GRCm39) D326G probably damaging Het
Edem1 C T 6: 108,831,290 (GRCm39) R584C possibly damaging Het
Emcn A G 3: 137,085,638 (GRCm39) T79A probably benign Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
Fbrsl1 C T 5: 110,526,307 (GRCm39) G437R probably damaging Het
Fbxo7 A C 10: 85,869,149 (GRCm39) Q201P probably benign Het
Fbxo9 T C 9: 78,008,938 (GRCm39) M12V possibly damaging Het
Fcgbpl1 A T 7: 27,854,914 (GRCm39) I1847F probably damaging Het
Flii A G 11: 60,609,688 (GRCm39) S640P probably benign Het
Fsip2 A T 2: 82,812,207 (GRCm39) N2842I possibly damaging Het
Fst G T 13: 114,592,241 (GRCm39) Q159K probably damaging Het
Fuom A T 7: 139,680,025 (GRCm39) *109R probably null Het
Hhipl2 A G 1: 183,214,055 (GRCm39) D377G probably damaging Het
Hspa14 A G 2: 3,503,560 (GRCm39) V116A possibly damaging Het
Ighm A G 12: 113,382,601 (GRCm39) probably benign Het
Ighv1-85 T A 12: 115,963,847 (GRCm39) Y51F probably benign Het
Ighv2-3 A T 12: 113,574,833 (GRCm39) D107E probably benign Het
Ighv2-6-8 T A 12: 113,760,187 (GRCm39) M1L probably benign Het
Ipo5 T C 14: 121,163,683 (GRCm39) V247A probably benign Het
Itga9 T C 9: 118,672,729 (GRCm39) F154L possibly damaging Het
Itprid1 C A 6: 55,955,380 (GRCm39) P996Q probably damaging Het
Knl1 T A 2: 118,898,829 (GRCm39) C177S possibly damaging Het
Lrrc17 G A 5: 21,780,156 (GRCm39) G377S probably damaging Het
Marveld3 A T 8: 110,675,249 (GRCm39) I189K probably benign Het
Msantd2 G A 9: 37,428,555 (GRCm39) G185R probably damaging Het
Mtcl1 G A 17: 66,691,354 (GRCm39) probably benign Het
Muc21 T C 17: 35,933,395 (GRCm39) probably benign Het
Mycbpap A T 11: 94,398,572 (GRCm39) probably null Het
Nbeal1 A G 1: 60,316,353 (GRCm39) D1852G probably benign Het
Ndc80 A T 17: 71,807,276 (GRCm39) V560D probably benign Het
Nscme3l A T 19: 5,553,463 (GRCm39) V106D probably damaging Het
Or1e25 T A 11: 73,494,030 (GRCm39) V208E possibly damaging Het
Or2t48 A C 11: 58,420,710 (GRCm39) V34G probably benign Het
Or56a3 A T 7: 104,735,565 (GRCm39) D214V probably damaging Het
Or6a2 A T 7: 106,600,286 (GRCm39) S260R probably damaging Het
Or9i1b T C 19: 13,896,411 (GRCm39) V9A probably benign Het
Pcdhga4 A T 18: 37,819,651 (GRCm39) Y400F probably damaging Het
Pkd2 A G 5: 104,634,515 (GRCm39) silent Het
Plxna4 T A 6: 32,183,165 (GRCm39) I913F probably damaging Het
Psmc1 T C 12: 100,086,399 (GRCm39) probably null Het
Robo2 G A 16: 73,695,853 (GRCm39) T1430I probably benign Het
Safb2 G A 17: 56,882,647 (GRCm39) R329C probably damaging Het
Septin14 T C 5: 129,774,926 (GRCm39) H83R probably damaging Het
Slc16a10 A G 10: 39,952,784 (GRCm39) F237L probably benign Het
Slc37a1 A T 17: 31,559,236 (GRCm39) T439S probably damaging Het
Slc6a6 T C 6: 91,712,170 (GRCm39) F233S probably damaging Het
Smyd3 A T 1: 179,238,024 (GRCm39) D114E probably benign Het
Sned1 T C 1: 93,199,324 (GRCm39) I468T probably benign Het
Speer4a1 T A 5: 26,241,736 (GRCm39) N130I probably damaging Het
Tdrd7 T C 4: 46,029,757 (GRCm39) V1030A probably benign Het
Trip12 A T 1: 84,727,065 (GRCm39) D1135E probably damaging Het
Tsga10 T A 1: 37,800,598 (GRCm39) D542V probably damaging Het
Unc93a2 A T 17: 7,637,187 (GRCm39) C334S probably benign Het
Usp46 A T 5: 74,189,902 (GRCm39) M43K probably benign Het
Vmn1r175 A T 7: 23,508,531 (GRCm39) I32N possibly damaging Het
Vmn1r29 C T 6: 58,285,108 (GRCm39) T276I probably benign Het
Vmn1r81 A T 7: 11,994,034 (GRCm39) D191E probably damaging Het
Zbtb5 C A 4: 44,995,052 (GRCm39) V111F probably damaging Het
Zfp12 C T 5: 143,230,240 (GRCm39) P189L possibly damaging Het
Zfp729b A G 13: 67,739,140 (GRCm39) F1042L 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
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
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'- CCAGGTGATTGTTCCCATTTGG -3'
(R):5'- CCAATCTGCAGGCATGAATG -3'

Sequencing Primer
(F):5'- TCTAAACCCAAGAATGGCTGTG -3'
(R):5'- GAAACTAAAGTGGAGTCATCTCTTC -3'
Posted On 2016-10-24