Incidental Mutation 'R2221:Ube2w'
ID 241465
Institutional Source Beutler Lab
Gene Symbol Ube2w
Ensembl Gene ENSMUSG00000025939
Gene Name ubiquitin-conjugating enzyme E2W (putative)
Synonyms 6130401J04Rik
MMRRC Submission 040223-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.471) question?
Stock # R2221 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 16611012-16689676 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16668183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 97 (S97P)
Ref Sequence ENSEMBL: ENSMUSP00000112741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117146]
AlphaFold Q8VDW4
Predicted Effect possibly damaging
Transcript: ENSMUST00000117146
AA Change: S97P

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112741
Gene: ENSMUSG00000025939
AA Change: S97P

DomainStartEndE-ValueType
UBCc 6 151 2.08e-34 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132919
Predicted Effect unknown
Transcript: ENSMUST00000133639
AA Change: S70P
SMART Domains Protein: ENSMUSP00000121573
Gene: ENSMUSG00000025939
AA Change: S70P

DomainStartEndE-ValueType
Pfam:UQ_con 7 75 5.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136455
Predicted Effect unknown
Transcript: ENSMUST00000182554
AA Change: S88P
Meta Mutation Damage Score 0.0893 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear-localized ubiquitin-conjugating enzyme (E2) that, along with ubiquitin-activating (E1) and ligating (E3) enzymes, coordinates the addition of a ubiquitin moiety to existing proteins. The encoded protein promotes the ubiquitination of Fanconi anemia complementation group proteins and may be important in the repair of DNA damage. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial prenatal, neonatal and early postnatal lethality, reduced male fertility and skin defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A C 4: 86,306,762 (GRCm39) D1392A probably benign Het
Afdn T C 17: 14,103,999 (GRCm39) probably benign Het
Aph1b A T 9: 66,691,921 (GRCm39) M121K probably damaging Het
Aspg G A 12: 112,080,868 (GRCm39) A120T probably damaging Het
Bicd1 A G 6: 149,418,503 (GRCm39) T725A probably damaging Het
Cd1d2 A T 3: 86,895,847 (GRCm39) I292F probably damaging Het
Cdcp3 A T 7: 130,849,186 (GRCm39) probably null Het
Cdk13 A G 13: 17,894,120 (GRCm39) V495A probably damaging Het
Cfd A T 10: 79,728,039 (GRCm39) probably null Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Cradd A C 10: 95,011,735 (GRCm39) V135G probably benign Het
Cry1 A G 10: 84,979,617 (GRCm39) C460R probably damaging Het
Ctu2 A G 8: 123,207,649 (GRCm39) E375G probably damaging Het
Dym T G 18: 75,363,236 (GRCm39) I580S probably damaging Het
Eif3e A G 15: 43,114,943 (GRCm39) L411P possibly damaging Het
Emsy T C 7: 98,239,982 (GRCm39) E1091G possibly damaging Het
Enkur A G 2: 21,194,130 (GRCm39) probably benign Het
Fam184a G A 10: 53,531,175 (GRCm39) T733M probably damaging Het
Frem2 G A 3: 53,424,278 (GRCm39) A3053V probably benign Het
Gbgt1 T C 2: 28,388,435 (GRCm39) L40P probably damaging Het
Gm5174 T A 10: 86,492,372 (GRCm39) noncoding transcript Het
Gys2 G T 6: 142,402,148 (GRCm39) D230E probably damaging Het
Herc2 T A 7: 55,818,766 (GRCm39) probably null Het
Hps3 A T 3: 20,056,527 (GRCm39) S815R probably benign Het
Igf1r C A 7: 67,851,710 (GRCm39) S983R probably damaging Het
Itsn1 T A 16: 91,650,656 (GRCm39) probably benign Het
Kcnc2 A G 10: 112,292,431 (GRCm39) N91D probably damaging Het
Kif28 C A 1: 179,560,676 (GRCm39) A210S possibly damaging Het
Klri2 T A 6: 129,717,272 (GRCm39) Q37L probably damaging Het
Lrrc38 T A 4: 143,096,419 (GRCm39) C243* probably null Het
Map3k5 T C 10: 19,943,666 (GRCm39) V590A possibly damaging Het
Mdn1 C A 4: 32,763,306 (GRCm39) F5135L probably benign Het
Megf11 G A 9: 64,567,713 (GRCm39) G401S possibly damaging Het
Mst1r T C 9: 107,785,547 (GRCm39) F402L probably damaging Het
Ntrk3 T C 7: 77,848,600 (GRCm39) I759V probably damaging Het
Nup188 T C 2: 30,226,936 (GRCm39) probably benign Het
Or4a71 C T 2: 89,358,281 (GRCm39) V158I probably benign Het
Or8b12i T C 9: 20,082,388 (GRCm39) S160G possibly damaging Het
Prdm2 T C 4: 142,861,469 (GRCm39) N607S possibly damaging Het
Prl2a1 T A 13: 27,990,369 (GRCm39) probably null Het
Serpina9 T A 12: 103,964,523 (GRCm39) I305F probably damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc19a1 C T 10: 76,878,320 (GRCm39) T285I probably benign Het
Snap91 T C 9: 86,674,580 (GRCm39) T544A possibly damaging Het
Srgap3 A G 6: 112,923,454 (GRCm39) S2P probably damaging Het
Tcof1 A G 18: 60,970,973 (GRCm39) V210A possibly damaging Het
Tex261 A G 6: 83,748,497 (GRCm39) I136T probably benign Het
Trpa1 A T 1: 14,973,480 (GRCm39) F279L probably null Het
Ttc39b T C 4: 83,150,999 (GRCm39) N532S probably benign Het
Ttn T C 2: 76,572,438 (GRCm39) T26152A probably damaging Het
Vmn1r25 A C 6: 57,956,223 (GRCm39) L22R probably damaging Het
Vmn1r64 T C 7: 5,887,448 (GRCm39) I32V probably benign Het
Vmn2r112 T G 17: 22,820,214 (GRCm39) M29R possibly damaging Het
Vmn2r71 T A 7: 85,273,301 (GRCm39) M705K probably benign Het
Vps13b G A 15: 35,884,743 (GRCm39) V3139I probably benign Het
Zfp628 T C 7: 4,923,830 (GRCm39) V684A probably benign Het
Other mutations in Ube2w
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0452:Ube2w UTSW 1 16,672,479 (GRCm39) splice site probably benign
R2223:Ube2w UTSW 1 16,668,183 (GRCm39) missense possibly damaging 0.94
R5863:Ube2w UTSW 1 16,655,531 (GRCm39) missense probably damaging 1.00
R6216:Ube2w UTSW 1 16,689,508 (GRCm39) unclassified probably benign
R8531:Ube2w UTSW 1 16,672,542 (GRCm39) missense probably benign 0.00
R9267:Ube2w UTSW 1 16,612,011 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AGATCAAAAGCCTCTGTCCC -3'
(R):5'- CTGAGTGAAGTGCAGCACTAC -3'

Sequencing Primer
(F):5'- GCCTCTGTCCCAATAAAATTCAC -3'
(R):5'- TGAAGTGCAGCACTACCCTCTG -3'
Posted On 2014-10-15