Incidental Mutation 'RF022:Ube2q1'
ID 603927
Institutional Source Beutler Lab
Gene Symbol Ube2q1
Ensembl Gene ENSMUSG00000042572
Gene Name ubiquitin-conjugating enzyme E2Q family member 1
Synonyms 2310012M18Rik, PRO3094, 1110002C01Rik, NICE-5
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.320) question?
Stock # RF022 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 89680923-89691307 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89688200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 324 (N324S)
Ref Sequence ENSEMBL: ENSMUSP00000037939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038356] [ENSMUST00000196726]
AlphaFold Q7TSS2
Predicted Effect probably benign
Transcript: ENSMUST00000038356
AA Change: N324S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000037939
Gene: ENSMUSG00000042572
AA Change: N324S

DomainStartEndE-ValueType
low complexity region 2 39 N/A INTRINSIC
Blast:RWD 43 156 1e-42 BLAST
low complexity region 183 202 N/A INTRINSIC
Blast:UBCc 203 243 8e-13 BLAST
UBCc 254 415 2.8e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196726
AA Change: N155S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000143422
Gene: ENSMUSG00000042572
AA Change: N155S

DomainStartEndE-ValueType
low complexity region 14 33 N/A INTRINSIC
Blast:UBCc 34 74 1e-13 BLAST
UBCc 85 246 2.8e-8 SMART
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit female-specific pleiotropic reproductive defects and partial embryonic lethality at implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik GTACT GTACTACT 12: 110,634,877 (GRCm39) probably null Het
Acap3 CCTGGGCTGCTG CCTGGGCTGCTGCATACTGGGCTGCTG 4: 155,989,553 (GRCm39) probably benign Het
Adam6b A T 12: 113,455,289 (GRCm39) E702V possibly damaging Het
Arpc3 A G 5: 122,538,489 (GRCm39) T7A probably benign Het
Bcl3 G A 7: 19,542,966 (GRCm39) P393L probably damaging Het
Ceacam9 A G 7: 16,459,304 (GRCm39) D201G possibly damaging Het
Chga AGC AGCCGC 12: 102,527,679 (GRCm39) probably benign Het
Clgn A G 8: 84,152,235 (GRCm39) K579R probably damaging Het
Cntnap2 C T 6: 46,998,599 (GRCm39) R884W probably damaging Het
Col6a4 A T 9: 105,954,207 (GRCm39) D377E probably damaging Het
Cort GCCCACTCGT G 4: 149,209,869 (GRCm39) probably benign Het
D5Ertd579e A C 5: 36,772,006 (GRCm39) I796M probably damaging Het
Dmkn GGTGGAAGTGGTGGAAG GGTGGAAGTGGTGGAAGAGGTGGAAGTCGTGGAAGTGGTGGAAG 7: 30,466,600 (GRCm39) probably benign Het
Dpagt1 G T 9: 44,243,262 (GRCm39) V266L possibly damaging Het
Ebf3 C A 7: 136,915,671 (GRCm39) probably benign Het
Exd2 AGCAGCCGCAGCC AGCAGCC 12: 80,522,691 (GRCm39) probably benign Het
Flywch1 CACTCCTGGTGT CACTCCTGGTGTGGGGAGGCTACGTACTCACCAACTCCTGGTGT 17: 23,981,141 (GRCm39) probably null Het
Gab3 CTT CTTATT X: 74,043,600 (GRCm39) probably null Het
Golga4 A G 9: 118,387,057 (GRCm39) D1393G probably damaging Het
Gpc5 G A 14: 115,789,688 (GRCm39) V521I probably damaging Het
Grik1 A T 16: 87,693,225 (GRCm39) N859K Het
Insrr G A 3: 87,711,792 (GRCm39) A511T possibly damaging Het
Isx A G 8: 75,600,474 (GRCm39) D69G probably damaging Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Lkaaear1 CAGCTCCAG CAGCTCCAGGTCGAGCTCCAG 2: 181,339,370 (GRCm39) probably benign Het
Lrch1 TTGGTGGTGCTGGTGG TTGGTGG 14: 75,185,014 (GRCm39) probably benign Het
Magel2 A G 7: 62,029,841 (GRCm39) E915G unknown Het
Maml3 A G 3: 51,764,083 (GRCm39) S294P probably damaging Het
Mamld1 AGC AGCCGC X: 70,162,426 (GRCm39) probably benign Het
Mef2d A T 3: 88,075,574 (GRCm39) T486S probably benign Het
Ms4a8a A G 19: 11,053,689 (GRCm39) V139A possibly damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or2z8 T G 8: 72,812,468 (GRCm39) *315G probably null Het
Pdik1l GTTTTTGTTTT GTTTTTGTTTTTTTTTTGTTTT 4: 134,006,678 (GRCm39) probably null Het
Pnma8a TCATGATGCACCTGCTTCAACATC TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC 7: 16,695,352 (GRCm39) probably benign Het
Ppfibp2 T C 7: 107,296,817 (GRCm39) L177P probably damaging Het
Ppp1r13l ACAGGCACCCTGCTCCGGC AC 7: 19,102,467 (GRCm39) probably benign Het
Ptprh A G 7: 4,552,367 (GRCm39) F966L probably benign Het
Rad17 A G 13: 100,773,593 (GRCm39) L132S probably damaging Het
Raph1 GG GGGGG 1: 60,528,426 (GRCm39) probably benign Het
Rnf126 AGGACGAGG AG 10: 79,594,977 (GRCm39) probably null Het
Rwdd2b C T 16: 87,233,558 (GRCm39) A181T probably benign Het
Sh3pxd2b GCCTGT GCCTGTTCCTGT 11: 32,373,054 (GRCm39) probably benign Het
Six3 CGG CGGTGG 17: 85,928,784 (GRCm39) probably benign Het
Sla C T 15: 66,654,593 (GRCm39) G231D probably benign Het
Tcof1 CAG CAGTAG 18: 60,968,807 (GRCm39) probably benign Het
Tfeb GCA GCAACA 17: 48,097,019 (GRCm39) probably benign Het
Tgm5 T A 2: 120,902,092 (GRCm39) E192D probably damaging Het
Tmem123 A G 9: 7,791,414 (GRCm39) Y171C probably damaging Het
Tnrc18 G A 5: 142,759,385 (GRCm39) A999V Het
Triobp C T 15: 78,858,482 (GRCm39) P1361L probably benign Het
Ubac1 A T 2: 25,895,470 (GRCm39) W328R probably damaging Het
Zcchc2 T C 1: 105,939,472 (GRCm39) I407T possibly damaging Het
Zfp384 GCCCAGGCCCAGGCCCAGGCCCAG GCCCAGGCCCAGCCCCAGGCCCAGGCCCAGGCCCAG 6: 125,013,434 (GRCm39) probably benign Het
Other mutations in Ube2q1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01299:Ube2q1 APN 3 89,688,681 (GRCm39) missense probably damaging 1.00
IGL02121:Ube2q1 APN 3 89,687,769 (GRCm39) missense possibly damaging 0.55
R0165:Ube2q1 UTSW 3 89,683,460 (GRCm39) missense probably damaging 1.00
R1680:Ube2q1 UTSW 3 89,683,483 (GRCm39) missense probably benign 0.01
R2072:Ube2q1 UTSW 3 89,686,878 (GRCm39) critical splice donor site probably null
R3548:Ube2q1 UTSW 3 89,688,383 (GRCm39) missense probably damaging 1.00
R4932:Ube2q1 UTSW 3 89,686,790 (GRCm39) nonsense probably null
R5472:Ube2q1 UTSW 3 89,684,548 (GRCm39) missense probably benign 0.00
R5902:Ube2q1 UTSW 3 89,683,487 (GRCm39) nonsense probably null
R6161:Ube2q1 UTSW 3 89,688,667 (GRCm39) splice site probably null
R7303:Ube2q1 UTSW 3 89,683,898 (GRCm39) missense possibly damaging 0.91
R8490:Ube2q1 UTSW 3 89,681,308 (GRCm39) missense probably benign
R8671:Ube2q1 UTSW 3 89,683,385 (GRCm39) missense probably damaging 1.00
R9558:Ube2q1 UTSW 3 89,686,766 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGACCAGGATAGCGCTTTGC -3'
(R):5'- GGTGAGAAGTTCCATGCAGATG -3'

Sequencing Primer
(F):5'- GCGCTTTGCACAATGATCTTCAG -3'
(R):5'- TGGCACCTCCACCCAGAAC -3'
Posted On 2019-12-04