Incidental Mutation 'R4563:Ube4b'
ID 343189
Institutional Source Beutler Lab
Gene Symbol Ube4b
Ensembl Gene ENSMUSG00000028960
Gene Name ubiquitination factor E4B
Synonyms UFD2a, D4Bwg0973e, 4930551I19Rik, UFD2, 4933406G05Rik, Ufd2p
MMRRC Submission 041788-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4563 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 149412873-149511206 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 149443622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103212] [ENSMUST00000172836] [ENSMUST00000174343]
AlphaFold Q9ES00
Predicted Effect probably benign
Transcript: ENSMUST00000103212
SMART Domains Protein: ENSMUSP00000099501
Gene: ENSMUSG00000028960

DomainStartEndE-ValueType
low complexity region 10 20 N/A INTRINSIC
low complexity region 21 33 N/A INTRINSIC
low complexity region 37 50 N/A INTRINSIC
low complexity region 76 99 N/A INTRINSIC
low complexity region 261 278 N/A INTRINSIC
low complexity region 439 452 N/A INTRINSIC
Pfam:Ufd2P_core 462 1083 1.3e-199 PFAM
Ubox 1102 1164 3.94e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151896
Predicted Effect probably benign
Transcript: ENSMUST00000172836
SMART Domains Protein: ENSMUSP00000134452
Gene: ENSMUSG00000028960

DomainStartEndE-ValueType
low complexity region 10 20 N/A INTRINSIC
low complexity region 21 33 N/A INTRINSIC
low complexity region 37 50 N/A INTRINSIC
low complexity region 76 99 N/A INTRINSIC
low complexity region 261 278 N/A INTRINSIC
low complexity region 439 452 N/A INTRINSIC
Pfam:Ufd2P_core 462 983 7.4e-143 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174343
SMART Domains Protein: ENSMUSP00000134556
Gene: ENSMUSG00000028960

DomainStartEndE-ValueType
low complexity region 10 20 N/A INTRINSIC
low complexity region 21 33 N/A INTRINSIC
low complexity region 37 50 N/A INTRINSIC
low complexity region 76 99 N/A INTRINSIC
low complexity region 261 278 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (40/40)
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, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene die by midgestation and exhibit cardiac development defects such as hemorrhage and cardiomyocyte apoptosis. Heterozygous mice exhibit axonal dystrophy in the nucleus gracilis, degeneration of Purkinje cells and gait abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A G 12: 21,382,089 (GRCm39) C591R probably damaging Het
Bace2 G A 16: 97,223,180 (GRCm39) R368Q probably damaging Het
Calm5 C A 13: 3,904,402 (GRCm39) S32* probably null Het
Ccdc198 T A 14: 49,471,955 (GRCm39) M152L probably benign Het
Cln3 G T 7: 126,171,730 (GRCm39) S346R probably damaging Het
G6pd2 G A 5: 61,967,686 (GRCm39) R487H possibly damaging Het
Glipr2 A T 4: 43,977,600 (GRCm39) N77Y probably damaging Het
Huwe1 A T X: 150,646,955 (GRCm39) I682F probably damaging Het
Kbtbd2 A G 6: 56,766,264 (GRCm39) V37A probably benign Het
Kdm7a C T 6: 39,129,757 (GRCm39) R473Q probably damaging Het
Lrrc71 T A 3: 87,652,715 (GRCm39) probably benign Het
Mcm3 G T 1: 20,879,869 (GRCm39) R543S probably benign Het
Mgat4a T C 1: 37,505,660 (GRCm39) D43G probably damaging Het
Mphosph8 T C 14: 56,928,457 (GRCm39) Y703H probably benign Het
Ncf2 T C 1: 152,683,976 (GRCm39) probably benign Het
Nek6 T G 2: 38,475,305 (GRCm39) V282G probably damaging Het
Nhlrc1 T C 13: 47,167,666 (GRCm39) D197G possibly damaging Het
Nup93 G T 8: 95,034,520 (GRCm39) V612F probably damaging Het
Or5be3 C T 2: 86,864,028 (GRCm39) C179Y probably damaging Het
Or9i14 A G 19: 13,792,646 (GRCm39) F103L probably benign Het
Pafah1b2 T C 9: 45,887,404 (GRCm39) K36E probably damaging Het
Paqr9 A G 9: 95,442,997 (GRCm39) E329G probably benign Het
Pclo A G 5: 14,571,383 (GRCm39) Q256R probably damaging Het
Pctp A T 11: 89,879,578 (GRCm39) D94E probably benign Het
Pde8a T A 7: 80,958,568 (GRCm39) Y315* probably null Het
Pex14 A T 4: 149,126,225 (GRCm39) V41D probably damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Rasal2 T C 1: 157,003,561 (GRCm39) K366R probably damaging Het
Rprd1a A C 18: 24,640,160 (GRCm39) probably null Het
Senp8 A C 9: 59,657,546 (GRCm39) M1R probably null Het
Slc49a4 T C 16: 35,518,312 (GRCm39) Y467C probably damaging Het
Slco1b2 A G 6: 141,616,893 (GRCm39) T409A probably benign Het
Strc T C 2: 121,196,286 (GRCm39) T1581A probably benign Het
Tmem117 T C 15: 94,536,035 (GRCm39) I23T possibly damaging Het
Ttc13 A G 8: 125,402,016 (GRCm39) L657P probably damaging Het
Vmn1r125 A G 7: 21,006,308 (GRCm39) T69A probably damaging Het
Other mutations in Ube4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Ube4b APN 4 149,465,823 (GRCm39) missense probably benign 0.29
IGL00820:Ube4b APN 4 149,437,378 (GRCm39) splice site probably benign
IGL01093:Ube4b APN 4 149,414,726 (GRCm39) missense probably benign 0.01
IGL01154:Ube4b APN 4 149,449,927 (GRCm39) missense probably benign 0.28
IGL01612:Ube4b APN 4 149,468,275 (GRCm39) missense probably damaging 0.98
IGL01800:Ube4b APN 4 149,415,951 (GRCm39) missense probably damaging 1.00
IGL02149:Ube4b APN 4 149,483,141 (GRCm39) missense possibly damaging 0.88
IGL02472:Ube4b APN 4 149,471,536 (GRCm39) critical splice donor site probably null
IGL02839:Ube4b APN 4 149,452,856 (GRCm39) missense probably damaging 0.98
IGL03027:Ube4b APN 4 149,465,734 (GRCm39) missense probably damaging 1.00
R0143:Ube4b UTSW 4 149,439,914 (GRCm39) missense possibly damaging 0.61
R0164:Ube4b UTSW 4 149,444,781 (GRCm39) missense probably damaging 0.98
R0164:Ube4b UTSW 4 149,444,781 (GRCm39) missense probably damaging 0.98
R0206:Ube4b UTSW 4 149,483,094 (GRCm39) missense probably benign 0.38
R0591:Ube4b UTSW 4 149,442,034 (GRCm39) intron probably benign
R1366:Ube4b UTSW 4 149,419,606 (GRCm39) missense probably damaging 0.98
R1452:Ube4b UTSW 4 149,455,626 (GRCm39) missense probably damaging 1.00
R1513:Ube4b UTSW 4 149,436,035 (GRCm39) missense probably benign 0.17
R1668:Ube4b UTSW 4 149,445,751 (GRCm39) missense probably benign 0.02
R1874:Ube4b UTSW 4 149,432,428 (GRCm39) missense probably damaging 1.00
R2002:Ube4b UTSW 4 149,468,254 (GRCm39) missense probably benign 0.16
R2050:Ube4b UTSW 4 149,429,069 (GRCm39) missense probably damaging 1.00
R2109:Ube4b UTSW 4 149,457,298 (GRCm39) missense probably benign 0.00
R2281:Ube4b UTSW 4 149,429,029 (GRCm39) missense probably damaging 1.00
R3547:Ube4b UTSW 4 149,419,573 (GRCm39) missense probably damaging 1.00
R3881:Ube4b UTSW 4 149,449,861 (GRCm39) splice site probably null
R4378:Ube4b UTSW 4 149,468,255 (GRCm39) missense probably damaging 1.00
R4674:Ube4b UTSW 4 149,415,827 (GRCm39) missense possibly damaging 0.86
R4716:Ube4b UTSW 4 149,429,069 (GRCm39) missense probably damaging 1.00
R5026:Ube4b UTSW 4 149,445,022 (GRCm39) missense probably damaging 1.00
R5125:Ube4b UTSW 4 149,427,449 (GRCm39) missense probably damaging 1.00
R5178:Ube4b UTSW 4 149,427,449 (GRCm39) missense probably damaging 1.00
R5182:Ube4b UTSW 4 149,465,699 (GRCm39) missense probably null 0.08
R5229:Ube4b UTSW 4 149,471,635 (GRCm39) missense probably damaging 1.00
R5303:Ube4b UTSW 4 149,468,260 (GRCm39) missense probably damaging 0.98
R5346:Ube4b UTSW 4 149,421,881 (GRCm39) missense possibly damaging 0.91
R5780:Ube4b UTSW 4 149,415,821 (GRCm39) missense probably benign 0.00
R5813:Ube4b UTSW 4 149,421,925 (GRCm39) missense probably damaging 1.00
R5842:Ube4b UTSW 4 149,415,887 (GRCm39) missense probably benign 0.01
R5994:Ube4b UTSW 4 149,457,389 (GRCm39) missense probably damaging 0.97
R6020:Ube4b UTSW 4 149,452,768 (GRCm39) missense probably benign 0.17
R6125:Ube4b UTSW 4 149,483,203 (GRCm39) missense probably benign 0.13
R6272:Ube4b UTSW 4 149,471,590 (GRCm39) missense probably damaging 1.00
R6333:Ube4b UTSW 4 149,432,494 (GRCm39) missense probably damaging 1.00
R6426:Ube4b UTSW 4 149,510,453 (GRCm39) unclassified probably benign
R7203:Ube4b UTSW 4 149,483,067 (GRCm39) missense probably benign 0.30
R7341:Ube4b UTSW 4 149,427,458 (GRCm39) missense probably damaging 1.00
R7672:Ube4b UTSW 4 149,471,661 (GRCm39) missense probably benign 0.10
R7713:Ube4b UTSW 4 149,483,238 (GRCm39) missense possibly damaging 0.53
R8175:Ube4b UTSW 4 149,435,973 (GRCm39) missense probably benign 0.13
R9042:Ube4b UTSW 4 149,444,833 (GRCm39) missense probably benign
R9173:Ube4b UTSW 4 149,415,933 (GRCm39) missense probably damaging 0.96
R9462:Ube4b UTSW 4 149,444,748 (GRCm39) missense probably damaging 0.97
R9577:Ube4b UTSW 4 149,468,231 (GRCm39) missense possibly damaging 0.51
Z1088:Ube4b UTSW 4 149,419,582 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- ATCAGCGACTACTACTGCCTG -3'
(R):5'- TTGGGTTCCCTACAAGGAGAGAG -3'

Sequencing Primer
(F):5'- GACTACTACTGCCTGGATGCTG -3'
(R):5'- TTCCCTACAAGGAGAGAGATGGG -3'
Posted On 2015-09-24