Incidental Mutation 'R0153:Ube2ql1'
ID 22862
Institutional Source Beutler Lab
Gene Symbol Ube2ql1
Ensembl Gene ENSMUSG00000052981
Gene Name ubiquitin-conjugating enzyme E2Q family-like 1
Synonyms 3110006E14Rik
MMRRC Submission 038436-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R0153 (G1)
Quality Score 172
Status Validated (trace)
Chromosome 13
Chromosomal Location 69850951-69888008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69886711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 250 (M250K)
Ref Sequence ENSEMBL: ENSMUSP00000070906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065118]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000065118
AA Change: M250K

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070906
Gene: ENSMUSG00000052981
AA Change: M250K

DomainStartEndE-ValueType
low complexity region 23 33 N/A INTRINSIC
low complexity region 41 78 N/A INTRINSIC
low complexity region 89 131 N/A INTRINSIC
UBCc 141 293 6.83e-12 SMART
Meta Mutation Damage Score 0.7072 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.1%
Validation Efficiency 97% (99/102)
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,218,119 (GRCm39) M406V probably benign Het
Adar T C 3: 89,638,121 (GRCm39) S2P probably benign Het
Adgre1 T A 17: 57,750,939 (GRCm39) S538T possibly damaging Het
Alms1 T A 6: 85,618,363 (GRCm39) I2803N possibly damaging Het
Amn1 G T 6: 149,090,091 (GRCm39) probably benign Het
Arid1b G A 17: 5,393,207 (GRCm39) A2246T probably damaging Het
BC024139 T C 15: 76,005,947 (GRCm39) E418G probably damaging Het
Bok A G 1: 93,614,239 (GRCm39) D24G probably damaging Het
Cabp2 T C 19: 4,134,913 (GRCm39) probably benign Het
Ccdc141 C A 2: 76,995,582 (GRCm39) probably benign Het
Ccdc178 T C 18: 22,283,492 (GRCm39) T13A probably benign Het
Ccdc42 G T 11: 68,478,476 (GRCm39) V33F possibly damaging Het
Clcn7 G A 17: 25,368,176 (GRCm39) probably benign Het
Cluh A G 11: 74,548,176 (GRCm39) probably benign Het
Cr1l A T 1: 194,797,164 (GRCm39) probably benign Het
Cracdl A G 1: 37,663,720 (GRCm39) V726A probably benign Het
Csnk1g3 T A 18: 54,051,861 (GRCm39) probably benign Het
Depdc5 T C 5: 33,091,281 (GRCm39) probably benign Het
Dgkh A C 14: 78,807,569 (GRCm39) Y1149* probably null Het
Dipk2a G T 9: 94,406,533 (GRCm39) D291E probably benign Het
Dnai1 A G 4: 41,635,162 (GRCm39) probably benign Het
Dync2i1 A G 12: 116,196,256 (GRCm39) V497A probably benign Het
Efcab2 A G 1: 178,302,451 (GRCm39) E65G possibly damaging Het
Eif4a3l1 A T 6: 136,305,842 (GRCm39) D101V probably damaging Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Fgfr4 A G 13: 55,309,198 (GRCm39) probably benign Het
Garin5b A T 7: 4,773,286 (GRCm39) L177Q probably damaging Het
Gm10720 A C 9: 3,015,787 (GRCm39) S44R probably null Het
Gm17535 T A 9: 3,035,786 (GRCm39) L218H probably benign Het
Gm6471 A T 7: 142,385,368 (GRCm39) noncoding transcript Het
Hnrnpm C T 17: 33,865,489 (GRCm39) R724Q probably damaging Het
Homer1 C T 13: 93,528,254 (GRCm39) T117I possibly damaging Het
Hoxd4 A T 2: 74,557,801 (GRCm39) Q60L probably damaging Het
Ift172 T C 5: 31,417,968 (GRCm39) R1274G probably benign Het
Ino80d A G 1: 63,097,477 (GRCm39) S806P probably damaging Het
Itga10 T C 3: 96,561,016 (GRCm39) V627A probably benign Het
Itgb2l A G 16: 96,238,569 (GRCm39) Y77H possibly damaging Het
Kel A T 6: 41,678,877 (GRCm39) H195Q probably benign Het
Klhdc7a A G 4: 139,694,582 (GRCm39) S122P possibly damaging Het
Krt71 T A 15: 101,643,141 (GRCm39) I456F possibly damaging Het
Lats1 T A 10: 7,567,339 (GRCm39) S37T probably damaging Het
Lrp1b T A 2: 41,013,031 (GRCm39) H1858L possibly damaging Het
Matk A T 10: 81,098,676 (GRCm39) T461S probably benign Het
Meikin A G 11: 54,300,468 (GRCm39) probably benign Het
Muc6 T C 7: 141,214,029 (GRCm39) Q2832R possibly damaging Het
Myo10 T C 15: 25,781,324 (GRCm39) F194L possibly damaging Het
Nbas G A 12: 13,323,877 (GRCm39) probably benign Het
Nme4 A G 17: 26,312,831 (GRCm39) probably null Het
Or13p8 A T 4: 118,583,530 (GRCm39) I29F possibly damaging Het
Or4c112 T A 2: 88,853,540 (GRCm39) N269I probably benign Het
Or5w13 A G 2: 87,523,948 (GRCm39) S93P probably benign Het
Or7g32 T A 9: 19,408,233 (GRCm39) L63H probably damaging Het
Or8g34 T C 9: 39,372,967 (GRCm39) V80A probably damaging Het
Pacsin2 T C 15: 83,261,862 (GRCm39) Q473R probably benign Het
Patz1 A G 11: 3,243,288 (GRCm39) H427R probably damaging Het
Pkp3 A G 7: 140,663,256 (GRCm39) Y367C probably damaging Het
Prdm2 G A 4: 142,860,338 (GRCm39) P984L possibly damaging Het
Rev3l T A 10: 39,750,124 (GRCm39) C3091* probably null Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rpl5 T C 5: 108,052,623 (GRCm39) F140L probably benign Het
Sec24a A C 11: 51,591,653 (GRCm39) I1014M probably benign Het
Serpinb11 A G 1: 107,299,933 (GRCm39) H93R probably benign Het
Shank2 C A 7: 143,623,872 (GRCm39) H286N probably benign Het
Sipa1l2 G T 8: 126,148,637 (GRCm39) Q1651K probably damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc30a5 A T 13: 100,963,002 (GRCm39) F75L possibly damaging Het
Slco1a1 G T 6: 141,856,427 (GRCm39) probably benign Het
Smg5 C T 3: 88,261,179 (GRCm39) probably benign Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Taf8 A T 17: 47,809,177 (GRCm39) probably benign Het
Tars3 A G 7: 65,333,829 (GRCm39) D617G probably damaging Het
Tbc1d5 A T 17: 51,291,715 (GRCm39) probably benign Het
Tfcp2 C G 15: 100,412,708 (GRCm39) E315Q probably damaging Het
Tmf1 A T 6: 97,147,345 (GRCm39) S540R probably damaging Het
Tmprss4 T C 9: 45,095,634 (GRCm39) Q70R probably benign Het
Trip13 G T 13: 74,068,183 (GRCm39) A266E possibly damaging Het
Ttc24 T A 3: 87,982,234 (GRCm39) probably benign Het
Ttll5 T A 12: 85,878,740 (GRCm39) I49N probably damaging Het
Tut7 G A 13: 59,930,150 (GRCm39) R962* probably null Het
Vmn1r87 A T 7: 12,866,211 (GRCm39) D25E probably damaging Het
Vmn2r84 A G 10: 130,227,877 (GRCm39) Y120H probably benign Het
Wdr6 G A 9: 108,452,441 (GRCm39) R481C probably damaging Het
Zdhhc17 A T 10: 110,790,955 (GRCm39) Y371* probably null Het
Zfp292 T C 4: 34,811,185 (GRCm39) N620D probably benign Het
Zfp932 T A 5: 110,154,834 (GRCm39) Y11N probably benign Het
Other mutations in Ube2ql1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0378:Ube2ql1 UTSW 13 69,887,017 (GRCm39) missense possibly damaging 0.94
R0546:Ube2ql1 UTSW 13 69,887,419 (GRCm39) missense unknown
R2141:Ube2ql1 UTSW 13 69,886,783 (GRCm39) missense probably damaging 1.00
R3795:Ube2ql1 UTSW 13 69,852,231 (GRCm39) missense possibly damaging 0.58
R4588:Ube2ql1 UTSW 13 69,887,276 (GRCm39) missense unknown
R4908:Ube2ql1 UTSW 13 69,852,289 (GRCm39) missense probably damaging 1.00
R5672:Ube2ql1 UTSW 13 69,887,446 (GRCm39) missense unknown
R5941:Ube2ql1 UTSW 13 69,887,459 (GRCm39) start codon destroyed probably null
R7028:Ube2ql1 UTSW 13 69,886,873 (GRCm39) missense probably damaging 1.00
R7618:Ube2ql1 UTSW 13 69,887,066 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AACAGGCAGGGAGAAATCCTTTACG -3'
(R):5'- AAACGAGAACCTCTTCGACTGGAAC -3'

Sequencing Primer
(F):5'- AATCCTTTACGAAAAGAAGCGG -3'
(R):5'- TCTTCGACTGGAACGTGAAGC -3'
Posted On 2013-04-16