Incidental Mutation 'R9529:Ube2d2b'
ID 719380
Institutional Source Beutler Lab
Gene Symbol Ube2d2b
Ensembl Gene ENSMUSG00000063447
Gene Name ubiquitin-conjugating enzyme E2D 2B
Synonyms 1700013N18Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # R9529 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 107978028-107979643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107978438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 30 (M30V)
Ref Sequence ENSEMBL: ENSMUSP00000072387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072578] [ENSMUST00000112642] [ENSMUST00000124034] [ENSMUST00000128723] [ENSMUST00000138111] [ENSMUST00000155955]
AlphaFold Q6ZWY6
Predicted Effect probably benign
Transcript: ENSMUST00000072578
AA Change: M30V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000072387
Gene: ENSMUSG00000063447
AA Change: M30V

DomainStartEndE-ValueType
UBCc 4 147 3.7e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112642
SMART Domains Protein: ENSMUSP00000108261
Gene: ENSMUSG00000011831

DomainStartEndE-ValueType
low complexity region 51 80 N/A INTRINSIC
Blast:TBC 81 157 2e-16 BLAST
TBC 160 371 7.92e-91 SMART
internal_repeat_1 450 477 8.83e-6 PROSPERO
internal_repeat_1 494 521 8.83e-6 PROSPERO
coiled coil region 555 717 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124034
SMART Domains Protein: ENSMUSP00000121761
Gene: ENSMUSG00000011831

DomainStartEndE-ValueType
low complexity region 7 36 N/A INTRINSIC
Blast:TBC 37 113 3e-17 BLAST
TBC 116 327 7.92e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128723
SMART Domains Protein: ENSMUSP00000114845
Gene: ENSMUSG00000011831

DomainStartEndE-ValueType
low complexity region 7 36 N/A INTRINSIC
Blast:TBC 37 113 2e-16 BLAST
TBC 116 327 7.92e-91 SMART
internal_repeat_1 466 493 2.66e-6 PROSPERO
internal_repeat_1 510 537 2.66e-6 PROSPERO
coiled coil region 571 660 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138111
SMART Domains Protein: ENSMUSP00000119196
Gene: ENSMUSG00000011831

DomainStartEndE-ValueType
low complexity region 7 36 N/A INTRINSIC
Blast:TBC 37 113 3e-17 BLAST
TBC 116 327 7.92e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155955
SMART Domains Protein: ENSMUSP00000119758
Gene: ENSMUSG00000011831

DomainStartEndE-ValueType
Blast:TBC 18 133 3e-20 BLAST
Pfam:RabGAP-TBC 150 222 1.6e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A C 5: 113,331,682 (GRCm39) L844R possibly damaging Het
Aadacl4fm2 A G 4: 144,282,082 (GRCm39) Y237H probably benign Het
Abca8a A T 11: 109,947,167 (GRCm39) Y1036* probably null Het
Abcg3 T C 5: 105,121,973 (GRCm39) T135A probably damaging Het
Arhgef28 G A 13: 98,213,773 (GRCm39) A30V probably damaging Het
Cald1 T A 6: 34,662,947 (GRCm39) D3E probably damaging Het
Ccdc89 T A 7: 90,076,573 (GRCm39) L261Q probably damaging Het
Ceacam1 T C 7: 25,171,231 (GRCm39) D411G possibly damaging Het
Chil4 T A 3: 106,118,656 (GRCm39) N87Y probably damaging Het
Ciita T A 16: 10,328,640 (GRCm39) L308Q probably benign Het
Clptm1 T C 7: 19,371,600 (GRCm39) I278V probably benign Het
Col5a3 A T 9: 20,685,308 (GRCm39) probably null Het
Ddost T A 4: 138,038,780 (GRCm39) D336E probably benign Het
Dnah7a T C 1: 53,561,495 (GRCm39) Y2054C probably damaging Het
Erc2 T A 14: 28,197,723 (GRCm39) L1000H unknown Het
Fhip2b T C 14: 70,822,579 (GRCm39) E714G probably damaging Het
Gdpd4 T C 7: 97,610,793 (GRCm39) V71A possibly damaging Het
Hmcn1 A G 1: 150,545,175 (GRCm39) Y2811H probably damaging Het
Hmox2 C T 16: 4,582,818 (GRCm39) Q184* probably null Het
Igkv9-124 G T 6: 67,919,280 (GRCm39) T44N probably benign Het
Kmt2d G A 15: 98,737,649 (GRCm39) T5149I unknown Het
Lamb2 T A 9: 108,363,477 (GRCm39) D885E probably benign Het
Macf1 A G 4: 123,407,680 (GRCm39) S220P probably damaging Het
Muc2 A T 7: 141,287,453 (GRCm39) T211S possibly damaging Het
Mup13 A T 4: 61,184,117 (GRCm39) C15S possibly damaging Het
Myh3 T C 11: 66,979,556 (GRCm39) probably null Het
Nek10 A G 14: 14,850,833 (GRCm38) I293V probably benign Het
Or10d3 G A 9: 39,461,723 (GRCm39) T148I probably benign Het
Or2a52 T A 6: 43,144,432 (GRCm39) S147T possibly damaging Het
Or6c68 A G 10: 129,158,205 (GRCm39) T238A probably damaging Het
Pdss2 G A 10: 43,269,990 (GRCm39) V278I probably benign Het
Prex1 T C 2: 166,431,518 (GRCm39) K748R probably damaging Het
Ptprb A G 10: 116,174,519 (GRCm39) probably null Het
Ranbp17 G A 11: 33,424,826 (GRCm39) S510L unknown Het
Rp1 T A 1: 4,416,447 (GRCm39) H1555L probably benign Het
Rsph6a A G 7: 18,799,535 (GRCm39) K389E probably benign Het
Ryk T C 9: 102,746,518 (GRCm39) V151A probably benign Het
Ryr3 T A 2: 112,465,660 (GRCm39) N4838I possibly damaging Het
Sbno1 G A 5: 124,517,413 (GRCm39) R1233* probably null Het
Scn2a A T 2: 65,594,932 (GRCm39) K1927M probably damaging Het
Sec22c A T 9: 121,513,860 (GRCm39) I259N probably damaging Het
Slc6a15 A T 10: 103,240,583 (GRCm39) D402V probably benign Het
Stk38 G A 17: 29,207,210 (GRCm39) T111I probably damaging Het
Tmem237 G A 1: 59,147,215 (GRCm39) T306I probably damaging Het
Tmprss11a T C 5: 86,576,501 (GRCm39) K117E probably benign Het
Tmprss9 A T 10: 80,730,640 (GRCm39) D722V probably damaging Het
Trpc1 T C 9: 95,592,250 (GRCm39) Y575C probably damaging Het
Usp36 A T 11: 118,159,461 (GRCm39) L661* probably null Het
Vmn2r13 G T 5: 109,304,064 (GRCm39) T789N probably damaging Het
Vmn2r5 T C 3: 64,400,018 (GRCm39) T550A probably benign Het
Xirp2 T C 2: 67,355,540 (GRCm39) S3434P possibly damaging Het
Zfp106 A G 2: 120,351,007 (GRCm39) V1571A probably damaging Het
Zfp438 A G 18: 5,213,501 (GRCm39) S486P possibly damaging Het
Zfp616 A G 11: 73,975,660 (GRCm39) H643R probably damaging Het
Zfp616 A G 11: 73,976,596 (GRCm39) K955R possibly damaging Het
Other mutations in Ube2d2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02985:Ube2d2b APN 5 107,978,663 (GRCm39) missense probably damaging 1.00
R0010:Ube2d2b UTSW 5 107,978,502 (GRCm39) missense possibly damaging 0.56
R0010:Ube2d2b UTSW 5 107,978,502 (GRCm39) missense possibly damaging 0.56
R0308:Ube2d2b UTSW 5 107,978,774 (GRCm39) missense possibly damaging 0.67
R4151:Ube2d2b UTSW 5 107,978,747 (GRCm39) nonsense probably null
R5907:Ube2d2b UTSW 5 107,978,498 (GRCm39) missense probably damaging 1.00
R7124:Ube2d2b UTSW 5 107,978,717 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TCTGCGGCTGATCCAAAACC -3'
(R):5'- TTGGGGTCACACAACAGAGAAC -3'

Sequencing Primer
(F):5'- GGCTGATCCAAAACCAGCAAGG -3'
(R):5'- TAGTGCTGGAGACCACTGTGAC -3'
Posted On 2022-07-18