Incidental Mutation 'R7303:Ufd1'
ID 567128
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 045364-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7303 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 18630529-18654011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18636715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 78 (T78A)
Ref Sequence ENSEMBL: ENSMUSP00000005394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005394] [ENSMUST00000115578] [ENSMUST00000163695] [ENSMUST00000171789] [ENSMUST00000172013]
AlphaFold P70362
Predicted Effect probably damaging
Transcript: ENSMUST00000005394
AA Change: T78A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005394
Gene: ENSMUSG00000005262
AA Change: T78A

DomainStartEndE-ValueType
Pfam:UFD1 18 194 2.1e-84 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115578
AA Change: T78A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111241
Gene: ENSMUSG00000005262
AA Change: T78A

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 probably benign
Transcript: ENSMUST00000171789
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T G 17: 24,617,495 (GRCm39) L1064R possibly damaging Het
Abca7 A T 10: 79,850,822 (GRCm39) D2051V probably benign Het
Abcb5 T A 12: 118,875,295 (GRCm39) I626F probably damaging Het
Abcg5 A G 17: 84,977,774 (GRCm39) S333P probably damaging Het
Abl2 T C 1: 156,468,820 (GRCm39) S695P probably benign Het
Aen C T 7: 78,552,204 (GRCm39) P55S possibly damaging Het
Afg3l1 G T 8: 124,228,008 (GRCm39) A598S probably damaging Het
Aldh16a1 A T 7: 44,797,328 (GRCm39) L160Q probably damaging Het
Ang A T 14: 51,338,973 (GRCm39) H38L probably benign Het
Ankar A T 1: 72,698,192 (GRCm39) I954N probably benign Het
Aox1 A T 1: 58,373,924 (GRCm39) K862* probably null Het
Brme1 G C 8: 84,887,862 (GRCm39) G71A probably benign Het
Cad T C 5: 31,217,557 (GRCm39) probably null Het
Cc2d2b A T 19: 40,797,438 (GRCm39) Y740F unknown Het
Ccdc182 T C 11: 88,185,042 (GRCm39) Y41H probably benign Het
Chd9 A G 8: 91,778,532 (GRCm39) R2848G unknown Het
Chrna6 A T 8: 27,897,019 (GRCm39) L286* probably null Het
Cimap1d G A 10: 79,478,525 (GRCm39) P80S probably benign Het
Cracr2b A G 7: 141,043,115 (GRCm39) probably benign Het
Fam184b C T 5: 45,699,568 (GRCm39) probably null Het
Flnc T C 6: 29,460,849 (GRCm39) S2647P probably benign Het
Ftsj3 T C 11: 106,145,506 (GRCm39) D76G probably damaging Het
Fxyd1 T A 7: 30,753,743 (GRCm39) M17L probably benign Het
Golim4 G A 3: 75,785,360 (GRCm39) S677L probably damaging Het
Gpr149 A G 3: 62,502,491 (GRCm39) V455A possibly damaging Het
H2-Q1 C A 17: 35,540,312 (GRCm39) S132R probably benign Het
H2-Q7 A G 17: 35,659,037 (GRCm39) I163V probably benign Het
Herc1 A T 9: 66,358,098 (GRCm39) D2393V possibly damaging Het
Hmgb2 A G 8: 57,965,762 (GRCm39) K44E possibly damaging Het
Itgad A G 7: 127,789,351 (GRCm39) D605G probably benign Het
Kbtbd12 G T 6: 88,591,094 (GRCm39) F16L unknown Het
Klhl23 T C 2: 69,655,045 (GRCm39) I305T probably benign Het
Lrguk A T 6: 34,006,411 (GRCm39) N7I probably benign Het
Lrp5 A G 19: 3,641,774 (GRCm39) L1396P probably damaging Het
Mapkapk5 T C 5: 121,678,637 (GRCm39) E13G probably benign Het
Mark3 T C 12: 111,621,970 (GRCm39) V704A probably damaging Het
Mast2 A G 4: 116,165,508 (GRCm39) S1303P possibly damaging Het
Mcm2 T C 6: 88,864,928 (GRCm39) D516G probably damaging Het
Mon2 A T 10: 122,874,364 (GRCm39) probably null Het
Mrc2 T A 11: 105,216,629 (GRCm39) N139K probably damaging Het
Myh14 C T 7: 44,261,125 (GRCm39) E1789K probably damaging Het
Myh7b T A 2: 155,460,660 (GRCm39) L271Q probably damaging Het
Oog2 A T 4: 143,921,912 (GRCm39) H274L probably benign Het
Oosp1 A C 19: 11,645,774 (GRCm39) S121R probably benign Het
Or13a28 T C 7: 140,218,267 (GRCm39) S218P probably damaging Het
Or8k3b A G 2: 86,521,166 (GRCm39) V51A probably benign Het
Pepd T C 7: 34,721,197 (GRCm39) probably null Het
Pik3c2a A C 7: 116,005,178 (GRCm39) S363R probably benign Het
Polr2b T C 5: 77,468,868 (GRCm39) Y215H probably benign Het
Ppcdc A T 9: 57,321,958 (GRCm39) V194E probably benign Het
Rabgap1l A C 1: 160,509,667 (GRCm39) I470S probably benign Het
Scgb1b3 G A 7: 31,075,383 (GRCm39) A78T probably benign Het
Slc9a5 T A 8: 106,083,345 (GRCm39) L368Q probably damaging Het
Spef2 T A 15: 9,647,576 (GRCm39) I944F possibly damaging Het
Syne1 T A 10: 5,206,805 (GRCm39) H3461L probably benign Het
Tas2r134 A G 2: 51,518,145 (GRCm39) Y208C probably benign Het
Tasor A G 14: 27,193,809 (GRCm39) E1003G probably damaging Het
Tm9sf3 G A 19: 41,227,198 (GRCm39) S291F probably damaging Het
Tra2a G A 6: 49,227,921 (GRCm39) T69I unknown Het
Ube2q1 T A 3: 89,683,898 (GRCm39) L171Q possibly damaging Het
Vmn1r13 T C 6: 57,187,587 (GRCm39) S249P probably damaging Het
Wdr91 G A 6: 34,861,258 (GRCm39) S648L probably benign Het
Zfp51 T A 17: 21,684,058 (GRCm39) N224K 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
R1755:Ufd1 UTSW 16 18,642,003 (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
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'- GTGATACCCCTCTGACTAGAACAG -3'
(R):5'- ACATCAGCTTGACCTGTGGC -3'

Sequencing Primer
(F):5'- CCCTCTGACTAGAACAGTAGGG -3'
(R):5'- TTGACCTGTGGCACAGC -3'
Posted On 2019-06-26