Incidental Mutation 'R1680:Ube2q1'
ID 188395
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
MMRRC Submission 039716-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.320) question?
Stock # R1680 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89680923-89691307 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89683483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 143 (T143A)
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: T143A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000037939
Gene: ENSMUSG00000042572
AA Change: T143A

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 noncoding transcript
Transcript: ENSMUST00000038450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195940
Predicted Effect probably benign
Transcript: ENSMUST00000196726
SMART Domains Protein: ENSMUSP00000143422
Gene: ENSMUSG00000042572

DomainStartEndE-ValueType
low complexity region 14 33 N/A INTRINSIC
Blast:UBCc 34 74 1e-13 BLAST
UBCc 85 246 2.8e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199427
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik C G 10: 100,439,390 (GRCm39) P187R probably damaging Het
Ahnak T A 19: 8,987,327 (GRCm39) H2870Q probably benign Het
Arhgef33 C T 17: 80,655,080 (GRCm39) S95F probably damaging Het
Atp1a2 T A 1: 172,106,521 (GRCm39) D827V probably damaging Het
Bcat1 T G 6: 144,985,354 (GRCm39) D96A probably damaging Het
Birc6 A T 17: 74,855,741 (GRCm39) I184L probably benign Het
Clca3b A T 3: 144,543,585 (GRCm39) L415M probably damaging Het
Clstn1 T C 4: 149,728,183 (GRCm39) V617A probably benign Het
Col22a1 G A 15: 71,671,210 (GRCm39) A1050V unknown Het
Col5a3 C T 9: 20,695,964 (GRCm39) probably null Het
Csmd3 G A 15: 47,604,566 (GRCm39) T1059I probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dnm3 A G 1: 161,838,545 (GRCm39) V272A probably benign Het
Dnmt3a A G 12: 3,923,361 (GRCm39) Q187R probably damaging Het
Dpp9 A G 17: 56,497,103 (GRCm39) Y710H probably benign Het
Eef1a2 A T 2: 180,794,734 (GRCm39) M155K possibly damaging Het
Entpd8 G A 2: 24,974,036 (GRCm39) C331Y probably damaging Het
Erc1 A C 6: 119,552,722 (GRCm39) L1072R probably damaging Het
Fhip2b T C 14: 70,824,291 (GRCm39) Y482C probably damaging Het
Gtf3c2 A G 5: 31,331,212 (GRCm39) S155P probably damaging Het
Gucy2c A G 6: 136,699,491 (GRCm39) S617P probably damaging Het
Ice1 T C 13: 70,753,567 (GRCm39) R840G probably benign Het
Il1rl2 T C 1: 40,390,953 (GRCm39) Y299H possibly damaging Het
Ints7 T G 1: 191,353,274 (GRCm39) probably null Het
Ireb2 C T 9: 54,788,802 (GRCm39) T92I probably damaging Het
Itprid1 C T 6: 55,945,751 (GRCm39) T824I probably damaging Het
Kcnj8 A T 6: 142,515,915 (GRCm39) L64* probably null Het
Mapk8ip3 A G 17: 25,119,985 (GRCm39) V983A probably damaging Het
Mertk A G 2: 128,643,556 (GRCm39) D985G probably benign Het
Mical3 A T 6: 120,936,604 (GRCm39) S1307R probably benign Het
Mtcl3 A T 10: 29,072,835 (GRCm39) Q709L probably damaging Het
Ncaph2 A G 15: 89,248,825 (GRCm39) D222G probably benign Het
Nf1 C A 11: 79,441,824 (GRCm39) S295* probably null Het
Nlrp12 T A 7: 3,289,804 (GRCm39) D236V probably damaging Het
Npnt A G 3: 132,612,563 (GRCm39) V74A probably benign Het
Oasl1 A G 5: 115,074,003 (GRCm39) D304G probably damaging Het
Or52i2 A G 7: 102,319,940 (GRCm39) D271G possibly damaging Het
Or7g12 A G 9: 18,899,812 (GRCm39) H176R possibly damaging Het
Or8g22 T C 9: 38,958,296 (GRCm39) I140V probably benign Het
Or8h8 C T 2: 86,753,505 (GRCm39) V124I probably benign Het
Patz1 A G 11: 3,257,812 (GRCm39) K604E probably damaging Het
Pcsk6 T A 7: 65,684,998 (GRCm39) V793E probably benign Het
Pla2g4d C T 2: 120,108,231 (GRCm39) probably null Het
Plxnc1 A C 10: 94,677,413 (GRCm39) L938R probably benign Het
Pou4f2 G T 8: 79,161,460 (GRCm39) A381D probably damaging Het
Prdm4 A G 10: 85,735,087 (GRCm39) L685P possibly damaging Het
Pxn T A 5: 115,690,206 (GRCm39) V383E probably damaging Het
Rbl1 A G 2: 157,016,703 (GRCm39) L632P probably damaging Het
Rnf135 T A 11: 80,087,707 (GRCm39) S219T possibly damaging Het
Sdk2 T C 11: 113,682,262 (GRCm39) D2039G possibly damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Slc5a6 A G 5: 31,199,988 (GRCm39) Y131H probably damaging Het
Slc9a1 T C 4: 133,145,391 (GRCm39) I492T probably damaging Het
Spag5 A G 11: 78,211,442 (GRCm39) K993E probably damaging Het
Sptbn1 T G 11: 30,109,371 (GRCm39) I75L possibly damaging Het
Syngap1 T C 17: 27,171,553 (GRCm39) S46P possibly damaging Het
Tfcp2l1 T A 1: 118,603,335 (GRCm39) F458I probably damaging Het
Tmem67 A G 4: 12,087,840 (GRCm39) V102A probably benign Het
Tomm70a T C 16: 56,942,324 (GRCm39) S34P unknown Het
Txlnb G T 10: 17,718,981 (GRCm39) G604V probably benign Het
Unc80 C T 1: 66,542,828 (GRCm39) R361* probably null Het
Vcan T C 13: 89,851,666 (GRCm39) D1098G probably benign Het
Vmn1r176 T A 7: 23,534,806 (GRCm39) T116S probably damaging Het
Wdr81 C T 11: 75,345,249 (GRCm39) R6K probably benign Het
Zan T A 5: 137,401,312 (GRCm39) T4136S unknown Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp606 A T 7: 12,227,898 (GRCm39) H615L probably damaging Het
Zp3r A T 1: 130,510,617 (GRCm39) N433K 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
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
RF022:Ube2q1 UTSW 3 89,688,200 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TAGCATAGGCTCTGTTCTCCCAGC -3'
(R):5'- TCTGGCTTCAGTAGGCAACTCTCC -3'

Sequencing Primer
(F):5'- GTAGAGCCAGAGCTTCCTTTACTG -3'
(R):5'- TTCAGTAGGCAACTCTCCTAAGAAG -3'
Posted On 2014-05-09