Incidental Mutation 'R1755:Ufd1'
ID 194806
Institutional Source Beutler Lab
Gene Symbol Ufd1
Ensembl Gene ENSMUSG00000005262
Gene Name ubiquitin recognition factor in ER-associated degradation 1
Synonyms Ufd1l, Ufd1
MMRRC Submission 039787-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1755 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 18630529-18654011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 18642003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 151 (C151W)
Ref Sequence ENSEMBL: ENSMUSP00000111241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005394] [ENSMUST00000115578] [ENSMUST00000163695] [ENSMUST00000171789] [ENSMUST00000172013]
AlphaFold P70362
Predicted Effect probably damaging
Transcript: ENSMUST00000005394
AA Change: C151W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005394
Gene: ENSMUSG00000005262
AA Change: C151W

DomainStartEndE-ValueType
Pfam:UFD1 18 194 2.1e-84 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115578
AA Change: C151W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111241
Gene: ENSMUSG00000005262
AA Change: C151W

DomainStartEndE-ValueType
Pfam:UFD1 19 194 6.1e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163695
SMART Domains Protein: ENSMUSP00000132341
Gene: ENSMUSG00000005262

DomainStartEndE-ValueType
Pfam:UFD1 18 70 3.6e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170325
Predicted Effect probably benign
Transcript: ENSMUST00000171789
Predicted Effect probably benign
Transcript: ENSMUST00000172451
Predicted Effect probably benign
Transcript: ENSMUST00000172013
SMART Domains Protein: ENSMUSP00000128186
Gene: ENSMUSG00000005262

DomainStartEndE-ValueType
PDB:2YUJ|A 11 36 2e-12 PDB
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009]
PHENOTYPE: Mice heterozygous for a knock-out allele are viable with no obvious heart defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik G A 8: 88,315,585 (GRCm39) R225H possibly damaging Het
9330159F19Rik A T 10: 29,098,290 (GRCm39) H199L possibly damaging Het
Acaca AC A 11: 84,167,390 (GRCm39) probably null Het
Adam23 G A 1: 63,582,329 (GRCm39) V326M probably damaging Het
Aldh1a2 T A 9: 71,169,023 (GRCm39) Y168* probably null Het
Ano6 A G 15: 95,870,451 (GRCm39) K869E possibly damaging Het
Aplp2 G A 9: 31,088,400 (GRCm39) A106V probably damaging Het
Arhgdib T A 6: 136,906,612 (GRCm39) K30* probably null Het
Arl11 A G 14: 61,548,393 (GRCm39) T68A probably benign Het
Atg7 A G 6: 114,650,638 (GRCm39) T83A possibly damaging Het
Card9 T C 2: 26,249,546 (GRCm39) E5G probably damaging Het
Cars1 A G 7: 143,123,194 (GRCm39) V474A probably damaging Het
Cd300ld2 A G 11: 114,904,601 (GRCm39) F89L probably benign Het
Celf2 T A 2: 6,889,769 (GRCm39) M1L probably benign Het
Cnot1 T C 8: 96,451,205 (GRCm39) D2174G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cox6b2 A G 7: 4,754,937 (GRCm39) F74S probably damaging Het
Cyp11b1 T A 15: 74,710,383 (GRCm39) Q306L probably benign Het
Ddx3y A G Y: 1,279,543 (GRCm39) I107T probably benign Het
Dnah5 A T 15: 28,326,782 (GRCm39) Y1997F probably damaging Het
Dync2i1 A G 12: 116,189,649 (GRCm39) L620P probably damaging Het
Epha4 A T 1: 77,364,460 (GRCm39) I683N probably damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Gmip A G 8: 70,266,774 (GRCm39) I296M probably damaging Het
Gpr37l1 A G 1: 135,094,639 (GRCm39) S202P probably damaging Het
Ifi208 C A 1: 173,505,476 (GRCm39) D75E possibly damaging Het
Il24 T C 1: 130,811,680 (GRCm39) N132S possibly damaging Het
Katnal2 A G 18: 77,099,763 (GRCm39) C124R probably benign Het
Kcnq3 A T 15: 65,867,270 (GRCm39) L791Q probably damaging Het
Kcns3 T A 12: 11,141,445 (GRCm39) D418V probably benign Het
Kif13a A G 13: 46,906,089 (GRCm39) V618A possibly damaging Het
Kif13a A T 13: 46,927,154 (GRCm39) V1179E possibly damaging Het
Lpp A G 16: 24,663,874 (GRCm39) I259V probably benign Het
Mapkapk2 A G 1: 130,986,087 (GRCm39) probably null Het
Marchf7 T C 2: 60,065,265 (GRCm39) S514P probably benign Het
Nr4a2 T A 2: 56,999,104 (GRCm39) L381F probably damaging Het
Nt5dc3 A G 10: 86,660,115 (GRCm39) D328G probably damaging Het
Obox6 T C 7: 15,568,445 (GRCm39) K144E probably damaging Het
Oga A T 19: 45,746,845 (GRCm39) M735K possibly damaging Het
Olfml2b G A 1: 170,509,346 (GRCm39) V565M probably damaging Het
Or1d2 T C 11: 74,255,819 (GRCm39) V108A probably damaging Het
Orc3 G A 4: 34,575,114 (GRCm39) A590V possibly damaging Het
Picalm T C 7: 89,809,757 (GRCm39) S78P possibly damaging Het
Por T A 5: 135,758,339 (GRCm39) Y105* probably null Het
Ppara A G 15: 85,682,180 (GRCm39) K292R probably benign Het
Pramel27 T C 4: 143,577,380 (GRCm39) F3S probably damaging Het
Prss59 T G 6: 40,903,096 (GRCm39) Y92S probably damaging Het
Ralgds T A 2: 28,440,558 (GRCm39) I844N probably damaging Het
Rttn T C 18: 89,027,441 (GRCm39) Y519H probably damaging Het
Scn9a A G 2: 66,332,060 (GRCm39) V1261A probably benign Het
Slc2a2 T A 3: 28,767,811 (GRCm39) probably null Het
Slc5a7 T C 17: 54,600,006 (GRCm39) M136V probably benign Het
Smc4 C A 3: 68,941,441 (GRCm39) A1232E probably damaging Het
Smg1 A T 7: 117,802,287 (GRCm39) C270* probably null Het
Sparcl1 C T 5: 104,240,690 (GRCm39) E245K probably benign Het
Taf2 T C 15: 54,879,850 (GRCm39) H1162R probably damaging Het
Tlr3 T C 8: 45,851,010 (GRCm39) D105G probably benign Het
Tmem62 T C 2: 120,814,958 (GRCm39) probably null Het
Triobp G A 15: 78,850,679 (GRCm39) A278T probably benign Het
Upk1b T G 16: 38,600,402 (GRCm39) M193L probably benign Het
Usp15 A G 10: 122,968,949 (GRCm39) M334T probably damaging Het
Utp20 A G 10: 88,645,631 (GRCm39) S541P probably benign Het
Vmn1r61 A T 7: 5,614,302 (GRCm39) L4* probably null Het
Vmn2r96 G A 17: 18,802,915 (GRCm39) G83D possibly damaging Het
Zbtb8a T C 4: 129,248,110 (GRCm39) D387G possibly damaging Het
Zfp106 A T 2: 120,365,656 (GRCm39) N250K probably damaging Het
Zfp292 A G 4: 34,811,043 (GRCm39) V667A probably benign Het
Other mutations in Ufd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Ufd1 APN 16 18,646,468 (GRCm39) unclassified probably benign
IGL00944:Ufd1 APN 16 18,643,781 (GRCm39) missense possibly damaging 0.89
IGL01104:Ufd1 APN 16 18,633,587 (GRCm39) missense probably damaging 1.00
IGL01292:Ufd1 APN 16 18,639,864 (GRCm39) missense probably damaging 0.99
IGL03381:Ufd1 APN 16 18,644,507 (GRCm39) missense probably damaging 0.99
BB001:Ufd1 UTSW 16 18,642,035 (GRCm39) missense possibly damaging 0.83
BB011:Ufd1 UTSW 16 18,642,035 (GRCm39) missense possibly damaging 0.83
R0611:Ufd1 UTSW 16 18,633,626 (GRCm39) missense possibly damaging 0.94
R0730:Ufd1 UTSW 16 18,633,637 (GRCm39) missense probably damaging 0.99
R1527:Ufd1 UTSW 16 18,633,661 (GRCm39) missense probably damaging 1.00
R4078:Ufd1 UTSW 16 18,644,528 (GRCm39) missense possibly damaging 0.86
R4747:Ufd1 UTSW 16 18,639,832 (GRCm39) missense probably damaging 0.98
R5532:Ufd1 UTSW 16 18,636,680 (GRCm39) missense probably damaging 1.00
R6897:Ufd1 UTSW 16 18,645,850 (GRCm39) missense probably benign 0.29
R7303:Ufd1 UTSW 16 18,636,715 (GRCm39) missense probably damaging 0.99
R7348:Ufd1 UTSW 16 18,634,635 (GRCm39) intron probably benign
R7657:Ufd1 UTSW 16 18,636,713 (GRCm39) missense probably benign
R7913:Ufd1 UTSW 16 18,633,616 (GRCm39) missense probably benign 0.01
R7924:Ufd1 UTSW 16 18,642,035 (GRCm39) missense possibly damaging 0.83
R8389:Ufd1 UTSW 16 18,639,853 (GRCm39) missense possibly damaging 0.91
R9369:Ufd1 UTSW 16 18,634,113 (GRCm39) critical splice donor site probably null
R9508:Ufd1 UTSW 16 18,643,802 (GRCm39) missense possibly damaging 0.63
Z1177:Ufd1 UTSW 16 18,642,033 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGAGTACCATAGCATTTGCCAGGG -3'
(R):5'- ATATGTACCACCAGGGTCAGCCAG -3'

Sequencing Primer
(F):5'- GGGCCTGCCAAAGAAATTC -3'
(R):5'- aggaagaaagaaagaaagaaagagag -3'
Posted On 2014-05-23