Incidental Mutation 'IGL01104:Ufd1'
ID52925
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ufd1
Ensembl Gene ENSMUSG00000005262
Gene Nameubiquitin recognition factor in ER-associated degradation 1
SynonymsUfd1l, Ufd1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01104
Quality Score
Status
Chromosome16
Chromosomal Location18811779-18835261 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 18814837 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 4 (F4S)
Ref Sequence ENSEMBL: ENSMUSP00000132341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000028] [ENSMUST00000005394] [ENSMUST00000096990] [ENSMUST00000115578] [ENSMUST00000115585] [ENSMUST00000163695] [ENSMUST00000168822] [ENSMUST00000171789] [ENSMUST00000172013]
Predicted Effect probably benign
Transcript: ENSMUST00000000028
SMART Domains Protein: ENSMUSP00000000028
Gene: ENSMUSG00000000028

DomainStartEndE-ValueType
Pfam:CDC45 19 564 1.6e-152 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000005394
AA Change: F4S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005394
Gene: ENSMUSG00000005262
AA Change: F4S

DomainStartEndE-ValueType
Pfam:UFD1 18 194 2.1e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000096990
SMART Domains Protein: ENSMUSP00000094753
Gene: ENSMUSG00000000028

DomainStartEndE-ValueType
Pfam:CDC45 18 74 7.9e-24 PFAM
Pfam:CDC45 73 520 4.5e-138 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115578
AA Change: F4S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111241
Gene: ENSMUSG00000005262
AA Change: F4S

DomainStartEndE-ValueType
Pfam:UFD1 19 194 6.1e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115585
SMART Domains Protein: ENSMUSP00000111248
Gene: ENSMUSG00000000028

DomainStartEndE-ValueType
Pfam:CDC45 18 136 5.7e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163695
AA Change: F4S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132341
Gene: ENSMUSG00000005262
AA Change: F4S

DomainStartEndE-ValueType
Pfam:UFD1 18 70 3.6e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164795
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168822
Predicted Effect probably damaging
Transcript: ENSMUST00000171789
AA Change: F4S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000172013
AA Change: F4S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128186
Gene: ENSMUSG00000005262
AA Change: F4S

DomainStartEndE-ValueType
PDB:2YUJ|A 11 36 2e-12 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231819
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232311
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 T A 1: 89,726,075 probably benign Het
AU015836 A T X: 93,971,887 D15V probably damaging Het
Capns2 G T 8: 92,901,755 D91Y probably damaging Het
Chd6 C T 2: 160,961,927 R2071Q probably damaging Het
Col4a4 G T 1: 82,466,545 P1334T unknown Het
Dusp12 T G 1: 170,874,473 H319P probably damaging Het
Emilin3 A T 2: 160,909,783 V112E probably damaging Het
Eya3 T A 4: 132,711,929 F455L probably damaging Het
F10 G A 8: 13,055,686 G417D probably damaging Het
Fat3 A C 9: 16,375,728 V833G possibly damaging Het
Fat3 A T 9: 15,998,460 L2082H probably damaging Het
Golga5 T A 12: 102,493,814 M667K probably damaging Het
Gpr50 T A X: 71,667,227 L305H probably damaging Het
Grhl1 A G 12: 24,584,454 K217R probably damaging Het
Itgb2 A G 10: 77,547,194 probably null Het
Jag1 T A 2: 137,084,378 I1035L probably benign Het
Kdm2a A G 19: 4,356,738 probably benign Het
Lima1 A C 15: 99,843,700 S32A probably damaging Het
Lmod1 C T 1: 135,364,784 T459I probably damaging Het
Mtch1 T C 17: 29,336,222 D284G probably damaging Het
Mtus2 C T 5: 148,077,009 probably null Het
Olfr371 A G 8: 85,231,184 T230A probably benign Het
Ppl T C 16: 5,094,491 Q742R probably benign Het
Reln T C 5: 21,986,967 R1492G probably damaging Het
Rsad1 T C 11: 94,543,640 T323A possibly damaging Het
Slc22a8 A G 19: 8,607,965 T293A possibly damaging Het
Smc4 T C 3: 69,027,584 I677T possibly damaging Het
Usp9x T C X: 13,160,903 V16A probably damaging Het
Vmn2r31 A T 7: 7,396,566 C131S probably damaging Het
Vmn2r65 A G 7: 84,940,788 I640T possibly damaging Het
Vwf T C 6: 125,683,556 C2676R probably damaging Het
Other mutations in Ufd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Ufd1 APN 16 18827718 unclassified probably benign
IGL00944:Ufd1 APN 16 18825031 missense possibly damaging 0.89
IGL01292:Ufd1 APN 16 18821114 missense probably damaging 0.99
IGL03381:Ufd1 APN 16 18825757 missense probably damaging 0.99
R0611:Ufd1 UTSW 16 18814876 missense possibly damaging 0.94
R0730:Ufd1 UTSW 16 18814887 missense probably damaging 0.99
R1527:Ufd1 UTSW 16 18814911 missense probably damaging 1.00
R1755:Ufd1 UTSW 16 18823253 missense probably damaging 1.00
R4078:Ufd1 UTSW 16 18825778 missense possibly damaging 0.86
R4747:Ufd1 UTSW 16 18821082 missense probably damaging 0.98
R5532:Ufd1 UTSW 16 18817930 missense probably damaging 1.00
R6897:Ufd1 UTSW 16 18827100 missense probably benign 0.29
Posted On2013-06-21