Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01104:Ufd1'

52925

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ufd1

Ensembl Gene

ENSMUSG00000005262

Gene Name

ubiquitin recognition factor in ER-associated degradation 1

Synonyms

Ufd1l, Ufd1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01104

Quality Score

Status

Chromosome

Chromosomal Location

18630529-18654011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18633587 bp (GRCm39)

Zygosity

Heterozygous

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] [ENSMUST00000172013] [ENSMUST00000171789] [ENSMUST00000168822]

AlphaFold

P70362

Predicted Effect

probably benign
Transcript: ENSMUST00000000028

SMART Domains

Protein: ENSMUSP00000000028
Gene: ENSMUSG00000000028

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:UFD1	18	194	2.1e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000096990

SMART Domains

Protein: ENSMUSP00000094753
Gene: ENSMUSG00000000028

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:UFD1	19	194	6.1e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115585

SMART Domains

Protein: ENSMUSP00000111248
Gene: ENSMUSG00000000028

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:UFD1	18	70	3.6e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164795

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

Domain	Start	End	E-Value	Type
PDB:2YUJ\|A	11	36	2e-12	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000171789
AA Change: F4S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168822

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231819

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	T	A	1: 89,653,797 (GRCm39)		probably benign	Het
AU015836	A	T	X: 93,015,493 (GRCm39)	D15V	probably damaging	Het
Capns2	G	T	8: 93,628,383 (GRCm39)	D91Y	probably damaging	Het
Chd6	C	T	2: 160,803,847 (GRCm39)	R2071Q	probably damaging	Het
Col4a4	G	T	1: 82,444,266 (GRCm39)	P1334T	unknown	Het
Dusp12	T	G	1: 170,702,042 (GRCm39)	H319P	probably damaging	Het
Emilin3	A	T	2: 160,751,703 (GRCm39)	V112E	probably damaging	Het
Eya3	T	A	4: 132,439,240 (GRCm39)	F455L	probably damaging	Het
F10	G	A	8: 13,105,686 (GRCm39)	G417D	probably damaging	Het
Fat3	A	C	9: 16,287,024 (GRCm39)	V833G	possibly damaging	Het
Fat3	A	T	9: 15,909,756 (GRCm39)	L2082H	probably damaging	Het
Golga5	T	A	12: 102,460,073 (GRCm39)	M667K	probably damaging	Het
Gpr50	T	A	X: 70,710,833 (GRCm39)	L305H	probably damaging	Het
Grhl1	A	G	12: 24,634,453 (GRCm39)	K217R	probably damaging	Het
Itgb2	A	G	10: 77,383,028 (GRCm39)		probably null	Het
Jag1	T	A	2: 136,926,298 (GRCm39)	I1035L	probably benign	Het
Kdm2a	A	G	19: 4,406,766 (GRCm39)		probably benign	Het
Lima1	A	C	15: 99,741,581 (GRCm39)	S32A	probably damaging	Het
Lmod1	C	T	1: 135,292,522 (GRCm39)	T459I	probably damaging	Het
Mtch1	T	C	17: 29,555,196 (GRCm39)	D284G	probably damaging	Het
Mtus2	C	T	5: 148,013,819 (GRCm39)		probably null	Het
Or7c19	A	G	8: 85,957,813 (GRCm39)	T230A	probably benign	Het
Ppl	T	C	16: 4,912,355 (GRCm39)	Q742R	probably benign	Het
Reln	T	C	5: 22,191,965 (GRCm39)	R1492G	probably damaging	Het
Rsad1	T	C	11: 94,434,466 (GRCm39)	T323A	possibly damaging	Het
Slc22a8	A	G	19: 8,585,329 (GRCm39)	T293A	possibly damaging	Het
Smc4	T	C	3: 68,934,917 (GRCm39)	I677T	possibly damaging	Het
Usp9x	T	C	X: 13,027,142 (GRCm39)	V16A	probably damaging	Het
Vmn2r31	A	T	7: 7,399,565 (GRCm39)	C131S	probably damaging	Het
Vmn2r65	A	G	7: 84,589,996 (GRCm39)	I640T	possibly damaging	Het
Vwf	T	C	6: 125,660,519 (GRCm39)	C2676R	probably damaging	Het

Other mutations in Ufd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2013-06-21