Incidental Mutation 'R6125:Ube4b'
ID 487332
Institutional Source Beutler Lab
Gene Symbol Ube4b
Ensembl Gene ENSMUSG00000028960
Gene Name ubiquitination factor E4B
Synonyms UFD2a, D4Bwg0973e, 4930551I19Rik, UFD2, 4933406G05Rik, Ufd2p
MMRRC Submission 044272-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6125 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 149412873-149511206 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149483203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 22 (T22A)
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 benign
Transcript: ENSMUST00000103212
AA Change: T22A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000099501
Gene: ENSMUSG00000028960
AA Change: T22A

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: ENSMUST00000131986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172643
Predicted Effect probably benign
Transcript: ENSMUST00000172836
AA Change: T22A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000134452
Gene: ENSMUSG00000028960
AA Change: T22A

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 noncoding transcript
Transcript: ENSMUST00000173005
Predicted Effect probably benign
Transcript: ENSMUST00000174343
AA Change: T22A

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000134556
Gene: ENSMUSG00000028960
AA Change: T22A

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 0.0936 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.5%
Validation Efficiency 97% (65/67)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef11 T C 3: 87,636,909 (GRCm39) F1023S probably damaging Het
Atp1a1 G A 3: 101,498,023 (GRCm39) R255C probably damaging Het
Bbs12 A G 3: 37,374,700 (GRCm39) I383V probably benign Het
Cacna1h G A 17: 25,604,668 (GRCm39) P1215L probably benign Het
Calm5 A T 13: 3,904,491 (GRCm39) K62* probably null Het
Chd8 T A 14: 52,444,491 (GRCm39) H398L probably benign Het
Cspg4b A G 13: 113,454,217 (GRCm39) T88A probably benign Het
Dlgap2 A T 8: 14,777,193 (GRCm39) H146L possibly damaging Het
Dop1a G A 9: 86,403,186 (GRCm39) R1462H probably damaging Het
Dusp29 C A 14: 21,736,758 (GRCm39) V115L probably benign Het
Dync2h1 T C 9: 7,168,706 (GRCm39) N369S probably damaging Het
Fer1l4 A C 2: 155,888,907 (GRCm39) V422G probably damaging Het
Fstl4 T C 11: 53,077,130 (GRCm39) M629T probably benign Het
Galnt18 A G 7: 111,084,400 (GRCm39) Y507H probably damaging Het
Gar1 C A 3: 129,624,399 (GRCm39) probably benign Het
Gm19402 T C 10: 77,526,507 (GRCm39) T29A probably damaging Het
Gm826 A G 2: 160,169,034 (GRCm39) F92L unknown Het
H1f0 T A 15: 78,913,070 (GRCm39) I50N probably damaging Het
H2-DMb1 A G 17: 34,376,439 (GRCm39) Y186C probably damaging Het
Hgf A G 5: 16,803,159 (GRCm39) N357S probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hsf2 T C 10: 57,388,101 (GRCm39) V415A probably benign Het
Ins2 C A 7: 142,233,430 (GRCm39) probably null Het
Kel A T 6: 41,667,720 (GRCm39) F89L probably damaging Het
Lratd2 T C 15: 60,695,146 (GRCm39) N200S probably damaging Het
Lrrc37a T C 11: 103,392,386 (GRCm39) D1013G probably benign Het
Ltbp4 C A 7: 27,027,180 (GRCm39) G397C probably damaging Het
Madd A G 2: 90,982,797 (GRCm39) probably null Het
Map4k4 A G 1: 40,043,125 (GRCm39) D660G possibly damaging Het
Mdm4 G A 1: 132,922,248 (GRCm39) T298I possibly damaging Het
Mlip G A 9: 77,137,764 (GRCm39) S381L probably damaging Het
Mpdz A T 4: 81,215,764 (GRCm39) C1487S probably benign Het
Mtus1 A G 8: 41,537,576 (GRCm39) S47P probably damaging Het
Nek1 T C 8: 61,481,735 (GRCm39) S217P probably damaging Het
Or10ag59 T C 2: 87,405,590 (GRCm39) I54T probably benign Het
Or5b123 C T 19: 13,597,249 (GRCm39) A241V probably benign Het
Pcdhb10 T C 18: 37,546,679 (GRCm39) V585A possibly damaging Het
Perm1 A G 4: 156,302,176 (GRCm39) E240G probably benign Het
Pkdrej T C 15: 85,700,585 (GRCm39) T1784A probably damaging Het
Pnpla8 C T 12: 44,354,772 (GRCm39) T644M possibly damaging Het
Rgs2 T C 1: 143,879,763 (GRCm39) K32E probably damaging Het
Scyl3 A T 1: 163,778,145 (GRCm39) M428L probably benign Het
Slc30a8 A G 15: 52,198,530 (GRCm39) D325G probably benign Het
Slc5a9 G T 4: 111,741,002 (GRCm39) T548K probably damaging Het
Slc9b2 G A 3: 135,036,457 (GRCm39) probably null Het
Slco3a1 C T 7: 73,968,254 (GRCm39) D489N probably benign Het
Slit3 T C 11: 35,461,560 (GRCm39) probably null Het
Stk39 C A 2: 68,222,468 (GRCm39) G199C probably damaging Het
Tbx1 A G 16: 18,402,216 (GRCm39) F263L probably damaging Het
Tcf21 G T 10: 22,695,665 (GRCm39) N46K probably benign Het
Tdrd9 T A 12: 112,034,632 (GRCm39) M1357K possibly damaging Het
Tll1 A G 8: 64,504,521 (GRCm39) L625P probably damaging Het
Tmem131 G A 1: 36,847,387 (GRCm39) S1237L possibly damaging Het
Trdv5 T C 14: 54,386,298 (GRCm39) K56E possibly damaging Het
Triml2 G A 8: 43,640,659 (GRCm39) V172I probably benign Het
Trmt44 C A 5: 35,722,842 (GRCm39) D409Y probably damaging Het
Ube2o C T 11: 116,432,204 (GRCm39) A921T probably damaging Het
Ube2o T C 11: 116,435,576 (GRCm39) D404G possibly damaging Het
Ugp2 A T 11: 21,279,815 (GRCm39) F327L probably damaging Het
Virma T C 4: 11,521,172 (GRCm39) S910P probably damaging Het
Vmn2r9 A G 5: 108,990,836 (GRCm39) Y842H probably benign Het
Zfhx4 A G 3: 5,463,871 (GRCm39) D1368G possibly damaging Het
Zfp980 T A 4: 145,429,208 (GRCm39) *646R probably null Het
Zranb3 T A 1: 127,887,482 (GRCm39) N982Y probably benign 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
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
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'- CAAAGTACAGCTTCCAGGTTGG -3'
(R):5'- ACTGGAACATTTGCTTTGCCTTG -3'

Sequencing Primer
(F):5'- CAGGTTGGAGGCTGAGGC -3'
(R):5'- ACATATGGTTGTGAGCCACC -3'
Posted On 2017-10-10