Mutagenetix > Incidental Mutation

Incidental Mutation 'BB011:Ufd1'

642672

Institutional Source

Beutler Lab

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 #

BB011

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18630529-18654011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18642035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 162 (Y162C)

Ref Sequence

ENSEMBL: ENSMUSP00000005394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005394] [ENSMUST00000115578] [ENSMUST00000163695] [ENSMUST00000171789] [ENSMUST00000172013]

AlphaFold

P70362

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005394
AA Change: Y162C

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000005394
Gene: ENSMUSG00000005262
AA Change: Y162C

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115578
AA Change: Y162C

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111241
Gene: ENSMUSG00000005262
AA Change: Y162C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163695

SMART Domains

Protein: ENSMUSP00000132341
Gene: ENSMUSG00000005262

Domain	Start	End	E-Value	Type
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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172451

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,383,281 (GRCm39)	K2155E	possibly damaging	Het
Adgre5	G	A	8: 84,456,029 (GRCm39)	P256S	possibly damaging	Het
Adipor1	T	A	1: 134,353,731 (GRCm39)	V172D	probably damaging	Het
Ahsa1	T	C	12: 87,317,230 (GRCm39)		probably null	Het
Ankrd11	T	C	8: 123,622,641 (GRCm39)	I404V	possibly damaging	Het
Asxl3	G	A	18: 22,658,602 (GRCm39)	R2204Q	probably damaging	Het
Barhl2	A	G	5: 106,605,515 (GRCm39)	S65P	unknown	Het
Bbx	A	T	16: 50,044,671 (GRCm39)	L630H	probably damaging	Het
Cars1	T	C	7: 143,123,608 (GRCm39)	T531A	possibly damaging	Het
Catsperb	T	A	12: 101,486,824 (GRCm39)	H450Q	probably benign	Het
Cdt1	T	C	8: 123,296,091 (GRCm39)	L135P	probably damaging	Het
Cfap206	T	A	4: 34,728,833 (GRCm39)	H24L	probably benign	Het
Cilk1	T	C	9: 78,062,746 (GRCm39)	L260P	probably damaging	Het
Cnga4	T	A	7: 105,057,028 (GRCm39)	V480E	probably benign	Het
Cnot1	ACG	A	8: 96,472,275 (GRCm39)		probably null	Het
Ctcfl	G	A	2: 172,955,449 (GRCm39)	T271I	possibly damaging	Het
Dlc1	T	C	8: 37,038,570 (GRCm39)	R1003G	probably benign	Het
Dnah7b	A	G	1: 46,258,590 (GRCm39)	D1927G	probably benign	Het
Dscc1	A	T	15: 54,945,572 (GRCm39)	D374E	probably benign	Het
Eci2	G	A	13: 35,177,053 (GRCm39)	Q69*	probably null	Het
Ep300	C	A	15: 81,533,703 (GRCm39)	P1920Q	unknown	Het
Epha5	A	G	5: 84,232,705 (GRCm39)	Y629H	possibly damaging	Het
Fat2	G	A	11: 55,153,613 (GRCm39)	T3533I	probably benign	Het
Fat3	T	C	9: 15,910,593 (GRCm39)	N1803S	probably damaging	Het
Fcrl2	T	C	3: 87,166,840 (GRCm39)	Y51C	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gcnt2	A	T	13: 41,072,040 (GRCm39)	K228*	probably null	Het
Gucy2c	A	T	6: 136,740,053 (GRCm39)	V258E	probably benign	Het
Hecw1	C	A	13: 14,497,113 (GRCm39)	L298F	probably damaging	Het
Hydin	T	G	8: 111,145,103 (GRCm39)	V818G	possibly damaging	Het
Hykk	A	G	9: 54,829,524 (GRCm39)	Y131C	probably damaging	Het
Mpo	A	G	11: 87,685,666 (GRCm39)	D48G	probably damaging	Het
Mrps10	T	C	17: 47,689,208 (GRCm39)	*202Q	probably null	Het
Mrps14	T	C	1: 160,024,559 (GRCm39)	V30A	probably benign	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Muc2	G	T	7: 141,281,631 (GRCm39)	G497W	probably damaging	Het
Nnt	A	T	13: 119,523,181 (GRCm39)	V237D	probably damaging	Het
Nox4	G	T	7: 87,023,589 (GRCm39)	V492L	probably benign	Het
Obscn	C	G	11: 59,003,381 (GRCm39)	E1306Q	probably benign	Het
Or5ak23	T	C	2: 85,244,563 (GRCm39)	Y220C	probably benign	Het
Or6aa1	A	G	7: 86,043,938 (GRCm39)	I256T	probably damaging	Het
Pard3	A	G	8: 128,137,231 (GRCm39)	N861S	probably benign	Het
Pdlim4	G	A	11: 53,946,048 (GRCm39)	R230*	probably null	Het
Pinlyp	C	T	7: 24,241,550 (GRCm39)	V159M	possibly damaging	Het
Plcb1	A	T	2: 135,201,613 (GRCm39)	T855S	probably benign	Het
Pot1a	T	A	6: 25,753,309 (GRCm39)	D409V	possibly damaging	Het
Prom1	T	C	5: 44,187,111 (GRCm39)	D382G	probably benign	Het
Prss16	A	T	13: 22,192,834 (GRCm39)	N83K	probably damaging	Het
Ptprn2	A	G	12: 116,804,884 (GRCm39)	D133G	probably benign	Het
Rasef	C	T	4: 73,659,166 (GRCm39)		probably null	Het
Rbak	A	G	5: 143,160,241 (GRCm39)	S271P	probably damaging	Het
Rbm20	A	T	19: 53,666,016 (GRCm39)	I60F	possibly damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rsf1	G	GACGGCCGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Serpinb3c	A	G	1: 107,200,904 (GRCm39)	L171P	probably damaging	Het
Slc25a19	T	C	11: 115,506,376 (GRCm39)	Y211C	unknown	Het
Sorbs2	C	T	8: 46,248,507 (GRCm39)	S586L	probably damaging	Het
Spesp1	A	T	9: 62,180,733 (GRCm39)	S58R	probably benign	Het
Spryd3	A	G	15: 102,026,762 (GRCm39)	I329T	probably benign	Het
St8sia2	G	A	7: 73,616,700 (GRCm39)	L113F	probably damaging	Het
Star	T	C	8: 26,299,883 (GRCm39)	I75T	possibly damaging	Het
Tasor2	A	T	13: 3,644,331 (GRCm39)	F129Y	possibly damaging	Het
Tdrd6	T	A	17: 43,938,697 (GRCm39)	I784F	possibly damaging	Het
Tex55	G	A	16: 38,632,826 (GRCm39)	Q369*	probably null	Het
Tsc22d4	A	G	5: 137,766,273 (GRCm39)	I144V	unknown	Het
Tspan8	T	C	10: 115,669,229 (GRCm39)		probably null	Het
Ttll9	C	T	2: 152,804,407 (GRCm39)		probably benign	Het
Ubr4	T	G	4: 139,194,587 (GRCm39)	L1160R	unknown	Het
Unc13c	A	T	9: 73,641,690 (GRCm39)	F1268I	probably benign	Het
Uvssa	T	C	5: 33,568,295 (GRCm39)	I561T	probably damaging	Het
Vmn2r15	A	T	5: 109,434,254 (GRCm39)	S817T	probably damaging	Het
Ybx1	T	C	4: 119,139,476 (GRCm39)	E173G	probably damaging	Het
Zc3h6	T	C	2: 128,857,400 (GRCm39)	S640P	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGGCCTGCCAAAGAAATTC -3'
(R):5'- CTACAAGTCACATCCTGGCTC -3'

Sequencing Primer
(F):5'- AGTCCCGCTCATCTGAGTCAG -3'
(R):5'- ACATCCTGGCTCACCCATG -3'

Posted On

2020-08-01