Incidental Mutation 'R0066:Ubqlnl'
ID 41076
Institutional Source Beutler Lab
Gene Symbol Ubqlnl
Ensembl Gene ENSMUSG00000051437
Gene Name ubiquilin-like
Synonyms 4922504M18Rik, LOC244179
MMRRC Submission 038357-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R0066 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103797466-103799763 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103798145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 451 (W451R)
Ref Sequence ENSEMBL: ENSMUSP00000056365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051137] [ENSMUST00000059121]
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 damaging
Transcript: ENSMUST00000059121
AA Change: W451R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056365
Gene: ENSMUSG00000051437
AA Change: W451R

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
Meta Mutation Damage Score 0.2117 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 93.0%
Validation Efficiency 100% (107/107)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik A G 9: 22,119,177 (GRCm39) noncoding transcript Het
5530400C23Rik A T 6: 133,269,287 (GRCm39) probably benign Het
Aco2 T C 15: 81,787,666 (GRCm39) probably benign Het
Arap3 A T 18: 38,129,760 (GRCm39) S134T probably benign Het
Arsa T A 15: 89,358,539 (GRCm39) M288L possibly damaging Het
Atg2b A T 12: 105,614,708 (GRCm39) D1074E probably benign Het
Baiap2l1 A T 5: 144,221,372 (GRCm39) I174N probably damaging Het
Bpifb9a A T 2: 154,108,761 (GRCm39) N421Y possibly damaging Het
Btn2a2 T A 13: 23,662,655 (GRCm39) I432L probably benign Het
Ccdc150 A G 1: 54,395,850 (GRCm39) I778V probably benign Het
Cd200r2 G A 16: 44,730,037 (GRCm39) V194I possibly damaging Het
Cep350 A C 1: 155,786,964 (GRCm39) L1421R probably damaging Het
Col24a1 G A 3: 145,250,899 (GRCm39) A1633T probably damaging Het
Col6a6 A T 9: 105,579,412 (GRCm39) C1938S probably damaging Het
Cspg4 A T 9: 56,795,418 (GRCm39) D1051V probably damaging Het
Cstf1 T A 2: 172,214,976 (GRCm39) N32K probably benign Het
Ctrb1 G A 8: 112,413,269 (GRCm39) R248* probably null Het
Cyp2d11 T A 15: 82,275,958 (GRCm39) M208L probably benign Het
Dbt A G 3: 116,337,478 (GRCm39) Q334R probably benign Het
Dcaf12 A G 4: 41,298,338 (GRCm39) V270A probably damaging Het
Dis3l T A 9: 64,226,447 (GRCm39) N361I probably benign Het
Dnah10 A T 5: 124,840,140 (GRCm39) D1315V probably benign Het
Dnah11 A G 12: 118,090,621 (GRCm39) F1080S probably benign Het
Dnm3 A G 1: 162,234,930 (GRCm39) V70A probably damaging Het
Dpy19l1 A C 9: 24,325,705 (GRCm39) M700R possibly damaging Het
Dpy19l2 G A 9: 24,557,679 (GRCm39) probably benign Het
Dst C A 1: 34,228,634 (GRCm39) H2254N possibly damaging Het
Epm2aip1 A G 9: 111,101,531 (GRCm39) N168S probably benign Het
Fchsd2 A G 7: 100,927,631 (GRCm39) Y691C possibly damaging Het
Fndc8 A T 11: 82,788,398 (GRCm39) D76V probably benign Het
Frmd4a T C 2: 4,477,963 (GRCm39) L48P probably damaging Het
Gimap6 T A 6: 48,679,404 (GRCm39) I211F probably damaging Het
Gm15130 A G 2: 110,969,284 (GRCm39) probably benign Het
Gm43302 T A 5: 105,438,766 (GRCm39) I41F probably damaging Het
Gm5698 C T 1: 31,016,614 (GRCm39) V146I probably benign Het
Gpatch1 G A 7: 34,986,652 (GRCm39) S768L probably damaging Het
Grb14 T G 2: 64,768,836 (GRCm39) probably null Het
Hnrnpd T C 5: 100,112,560 (GRCm39) E222G probably damaging Het
Il4ra C T 7: 125,175,403 (GRCm39) P537L possibly damaging Het
Kalrn T C 16: 34,024,327 (GRCm39) D610G probably damaging Het
Kcnh4 T C 11: 100,648,626 (GRCm39) H26R probably benign Het
Kctd2 T G 11: 115,320,343 (GRCm39) probably benign Het
Khdrbs3 T A 15: 68,866,886 (GRCm39) probably benign Het
Macf1 G A 4: 123,325,943 (GRCm39) Q3066* probably null Het
Mfn2 G A 4: 147,969,902 (GRCm39) probably benign Het
Mmab T C 5: 114,574,526 (GRCm39) probably benign Het
Mrc1 T C 2: 14,266,011 (GRCm39) S310P probably benign Het
Mrps21 T C 3: 95,770,197 (GRCm39) Y44C probably null Het
Myh10 T A 11: 68,590,317 (GRCm39) F121Y probably damaging Het
Myo1f A G 17: 33,820,677 (GRCm39) D840G probably damaging Het
Neb T A 2: 52,196,542 (GRCm39) D553V probably damaging Het
Nol6 G T 4: 41,119,572 (GRCm39) probably benign Het
Npr2 G T 4: 43,632,329 (GRCm39) V49L probably benign Het
Ntsr2 T C 12: 16,704,120 (GRCm39) I207T probably benign Het
Nwd1 T A 8: 73,438,484 (GRCm39) S1552T probably benign Het
Oas3 T A 5: 120,896,940 (GRCm39) I894F probably damaging Het
Oprd1 A G 4: 131,841,299 (GRCm39) F220L probably benign Het
Or11j4 T A 14: 50,630,659 (GRCm39) F149I probably benign Het
Or2aj4 T A 16: 19,384,799 (GRCm39) Y278F probably damaging Het
Or2r2 A T 6: 42,463,869 (GRCm39) M86K probably benign Het
Or8b57 T C 9: 40,003,983 (GRCm39) N93S possibly damaging Het
Pkd1l3 G T 8: 110,347,103 (GRCm39) G159C unknown Het
Plcb4 T C 2: 135,803,689 (GRCm39) S521P probably benign Het
Plcl1 A T 1: 55,752,634 (GRCm39) I993F probably damaging Het
Plcxd1 T A 5: 110,249,368 (GRCm39) V65E probably damaging Het
Plekha7 T C 7: 115,756,743 (GRCm39) S640G probably damaging Het
Ptprn2 A C 12: 117,240,222 (GRCm39) N993T probably benign Het
Rabepk T C 2: 34,685,318 (GRCm39) D26G possibly damaging Het
Reck A G 4: 43,930,936 (GRCm39) N646D probably damaging Het
Rfx2 A T 17: 57,093,736 (GRCm39) probably benign Het
Ripk2 G A 4: 16,123,868 (GRCm39) Q436* probably null Het
Ryr1 C T 7: 28,704,992 (GRCm39) probably benign Het
Sema6b A G 17: 56,435,271 (GRCm39) V324A possibly damaging Het
Sik2 C A 9: 50,909,833 (GRCm39) M73I probably benign Het
Slc39a6 T C 18: 24,732,326 (GRCm39) K321E probably damaging Het
Slc7a4 C A 16: 17,391,875 (GRCm39) V520F probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Spink14 T C 18: 44,161,830 (GRCm39) V2A probably benign Het
Sptan1 C A 2: 29,893,679 (GRCm39) probably benign Het
Stab1 C T 14: 30,879,027 (GRCm39) probably benign Het
Tbc1d17 C T 7: 44,493,495 (GRCm39) probably benign Het
Tbcd T A 11: 121,394,590 (GRCm39) L49* probably null Het
Tmco6 A G 18: 36,875,160 (GRCm39) T477A probably benign Het
Tmem208 C T 8: 106,054,857 (GRCm39) A53V probably benign Het
Tpp2 A G 1: 44,020,908 (GRCm39) T837A possibly damaging Het
Tulp4 A T 17: 6,252,008 (GRCm39) N60I probably damaging Het
Usp53 G T 3: 122,746,956 (GRCm39) C363* probably null Het
Usp7 A T 16: 8,509,282 (GRCm39) H1017Q probably benign Het
Utp4 A G 8: 107,649,530 (GRCm39) T660A possibly damaging Het
Vmn1r194 A T 13: 22,428,641 (GRCm39) Y86F probably benign Het
Vmn1r195 A T 13: 22,463,409 (GRCm39) H293L possibly damaging Het
Vmn1r231 T C 17: 21,109,998 (GRCm39) R306G probably benign Het
Vmn2r63 T C 7: 42,576,514 (GRCm39) probably benign Het
Vmn2r77 T C 7: 86,449,964 (GRCm39) V70A probably benign Het
Vmn2r85 T C 10: 130,261,770 (GRCm39) D189G probably damaging Het
Vps8 A G 16: 21,296,273 (GRCm39) E515G possibly damaging Het
Wdr18 C A 10: 79,796,937 (GRCm39) Y104* probably null Het
Wnk4 A T 11: 101,156,261 (GRCm39) D43V probably damaging Het
Xab2 A T 8: 3,663,880 (GRCm39) N346K probably damaging Het
Xirp2 T C 2: 67,342,484 (GRCm39) V1575A possibly damaging Het
Zdhhc12 C T 2: 29,982,547 (GRCm39) R50H probably damaging Het
Zdhhc8 A G 16: 18,043,064 (GRCm39) S379P probably benign Het
Zfp458 G A 13: 67,407,673 (GRCm39) Q58* probably null Het
Zfp747 A T 7: 126,973,772 (GRCm39) S133T 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
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
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'- GGCTCAGCCATGTCTTGCACATTC -3'
(R):5'- CCAAAGCAATGTCTGCGCTGTTC -3'

Sequencing Primer
(F):5'- CAGGTCCAGGGCACTATATCAG -3'
(R):5'- GCCTCAAGTTGATAAGGATACTACC -3'
Posted On 2013-05-23