Incidental Mutation 'R4378:Ube4b'
ID 325184
Institutional Source Beutler Lab
Gene Symbol Ube4b
Ensembl Gene ENSMUSG00000028960
Gene Name ubiquitination factor E4B
Synonyms UFD2a, D4Bwg0973e, 4930551I19Rik, UFD2, 4933406G05Rik, Ufd2p
MMRRC Submission 041121-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4378 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 149412873-149511206 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 149468255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 174 (D174N)
Ref Sequence ENSEMBL: ENSMUSP00000134556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103212] [ENSMUST00000172836] [ENSMUST00000174343]
AlphaFold Q9ES00
Predicted Effect noncoding transcript
Transcript: ENSMUST00000084123
Predicted Effect probably damaging
Transcript: ENSMUST00000103212
AA Change: D174N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099501
Gene: ENSMUSG00000028960
AA Change: D174N

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: ENSMUST00000138027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172643
Predicted Effect probably benign
Transcript: ENSMUST00000172836
AA Change: D174N

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000134452
Gene: ENSMUSG00000028960
AA Change: D174N

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 damaging
Transcript: ENSMUST00000174343
AA Change: D174N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134556
Gene: ENSMUSG00000028960
AA Change: D174N

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
Meta Mutation Damage Score 0.0662 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,243,644 (GRCm39) K1836E probably benign Het
Adora1 A G 1: 134,130,948 (GRCm39) F241S probably damaging Het
Akt1s1 C T 7: 44,503,384 (GRCm39) T168M probably damaging Het
Amigo1 C T 3: 108,099,069 (GRCm39) probably benign Het
Amigo2 A G 15: 97,143,859 (GRCm39) F188L possibly damaging Het
Armc2 T C 10: 41,869,078 (GRCm39) T29A possibly damaging Het
Axl G A 7: 25,458,262 (GRCm39) A822V probably benign Het
Borcs5 T C 6: 134,621,292 (GRCm39) V21A probably benign Het
Cdc42ep3 A G 17: 79,642,408 (GRCm39) S171P probably benign Het
Cmas T C 6: 142,718,011 (GRCm39) probably benign Het
Cyp4f40 A G 17: 32,887,003 (GRCm39) N158S probably null Het
Dnah6 G T 6: 73,095,009 (GRCm39) N2139K probably benign Het
Elmo1 A T 13: 20,557,286 (GRCm39) H409L possibly damaging Het
Exoc1l A G 5: 76,648,380 (GRCm39) K62R probably damaging Het
Exoc4 T A 6: 33,792,622 (GRCm39) V584E probably damaging Het
Gm9116 A G 3: 93,817,786 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,710,161 (GRCm39) S101G probably benign Het
Hsph1 C A 5: 149,559,472 (GRCm39) E24* probably null Het
Ighv1-56 C T 12: 115,206,568 (GRCm39) E50K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrriq1 A T 10: 103,038,225 (GRCm39) D859E probably damaging Het
Mapk7 G A 11: 61,384,493 (GRCm39) S71L probably damaging Het
Nars1 A G 18: 64,634,424 (GRCm39) Y500H probably damaging Het
Or1j1 T C 2: 36,702,481 (GRCm39) M208V probably benign Het
Or5d20-ps1 G T 2: 87,931,829 (GRCm39) N167K unknown Het
Phc1 T C 6: 122,311,966 (GRCm39) N64S possibly damaging Het
Ppp4r3b T A 11: 29,159,450 (GRCm39) N180K possibly damaging Het
Primpol G A 8: 47,029,218 (GRCm39) probably benign Het
Prtg T C 9: 72,750,042 (GRCm39) S149P possibly damaging Het
Qrich2 T C 11: 116,337,741 (GRCm39) S1916G probably damaging Het
Rps6ka5 A T 12: 100,564,196 (GRCm39) Y218N probably damaging Het
Setbp1 T C 18: 78,899,833 (GRCm39) D1278G possibly damaging Het
Sirt1 C T 10: 63,174,728 (GRCm39) A8T probably benign Het
Sobp C T 10: 42,897,300 (GRCm39) V762I probably damaging Het
Sptan1 T C 2: 29,915,581 (GRCm39) S1994P probably damaging Het
Taok3 T C 5: 117,347,636 (GRCm39) I87T probably damaging Het
Tecta T C 9: 42,278,004 (GRCm39) Y1168C probably damaging Het
Trhr A G 15: 44,061,023 (GRCm39) Y181C probably damaging Het
Ubr4 C T 4: 139,137,751 (GRCm39) H1067Y possibly damaging Het
Vmn2r86 A G 10: 130,288,469 (GRCm39) I344T possibly damaging Het
Vmn2r88 T A 14: 51,650,746 (GRCm39) L153* probably null Het
Zfp516 T A 18: 83,005,305 (GRCm39) D736E probably benign Het
Zfp612 G T 8: 110,815,683 (GRCm39) V258F possibly 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
R4563:Ube4b UTSW 4 149,443,622 (GRCm39) intron probably benign
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'- CTCTCAGGGAAGAAAGTGACC -3'
(R):5'- ACACTGATTTTGCAGCTACTTC -3'

Sequencing Primer
(F):5'- GACATCCCGTATGGAGTT -3'
(R):5'- AACTCTGCATGGCTTGAGAC -3'
Posted On 2015-07-06