Mutagenetix > Incidental Mutation

Incidental Mutation 'R7657:Ufd1'

591303

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

045733-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7657 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18630529-18654011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 18636713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 77 (M77R)

Ref Sequence

ENSEMBL: ENSMUSP00000005394 (fasta)

Gene Model

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

AlphaFold

P70362

Predicted Effect

probably benign
Transcript: ENSMUST00000005394
AA Change: M77R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000005394
Gene: ENSMUSG00000005262
AA Change: M77R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115578
AA Change: M77R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111241
Gene: ENSMUSG00000005262
AA Change: M77R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,099,337 (GRCm39)	E28G	possibly damaging	Het
Acot6	G	A	12: 84,153,304 (GRCm39)	G182D	possibly damaging	Het
Actl9	A	G	17: 33,652,014 (GRCm39)	T25A	probably benign	Het
Adam26b	G	A	8: 43,974,579 (GRCm39)	T141I	possibly damaging	Het
Agl	T	C	3: 116,572,812 (GRCm39)	H148R		Het
Angptl1	A	G	1: 156,684,790 (GRCm39)	I320V	probably benign	Het
Arhgef10	C	T	8: 15,029,893 (GRCm39)	R932C	probably damaging	Het
Atp13a2	A	G	4: 140,719,815 (GRCm39)	E91G	possibly damaging	Het
Bptf	T	A	11: 106,965,555 (GRCm39)	E1213V	probably damaging	Het
C530025M09Rik	A	G	2: 149,672,541 (GRCm39)	V198A	unknown	Het
Casd1	A	T	6: 4,619,773 (GRCm39)	I173F	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Col1a2	A	T	6: 4,527,152 (GRCm39)	K627M	probably null	Het
Ctcfl	G	A	2: 172,955,449 (GRCm39)	T271I	possibly damaging	Het
Dctn2	T	C	10: 127,102,383 (GRCm39)	Y6H	probably damaging	Het
Denr	T	C	5: 124,046,263 (GRCm39)	V31A	probably damaging	Het
Entpd7	T	C	19: 43,713,906 (GRCm39)	F422L	possibly damaging	Het
Fastkd5	G	C	2: 130,458,176 (GRCm39)	P138R	probably benign	Het
Fmn1	G	T	2: 113,355,538 (GRCm39)	A758S	unknown	Het
Fmo2	A	G	1: 162,716,413 (GRCm39)	V58A	probably damaging	Het
Fmo6	A	G	1: 162,750,285 (GRCm39)	I257T	probably benign	Het
Foxn1	T	C	11: 78,256,790 (GRCm39)	T302A	probably benign	Het
Ganab	C	T	19: 8,884,721 (GRCm39)	L175F	probably damaging	Het
Gga1	A	T	15: 78,773,327 (GRCm39)		probably null	Het
Gjd3	G	T	11: 98,873,586 (GRCm39)	S86*	probably null	Het
Gm1330	A	G	2: 148,841,154 (GRCm39)		probably null	Het
Gm18596	A	C	10: 77,577,947 (GRCm39)	S176A	unknown	Het
Gnl2	A	G	4: 124,923,951 (GRCm39)	S10G	probably benign	Het
Gpsm2	G	A	3: 108,608,061 (GRCm39)	A239V	probably damaging	Het
Grik2	T	C	10: 49,659,247 (GRCm39)	R37G	probably benign	Het
Grm3	A	G	5: 9,561,452 (GRCm39)		probably null	Het
Gtpbp3	T	C	8: 71,943,765 (GRCm39)	L216P	probably benign	Het
Hhla1	T	C	15: 65,837,308 (GRCm39)	T99A	probably damaging	Het
Igtp	A	T	11: 58,097,654 (GRCm39)	Q275L	probably benign	Het
Itga6	G	A	2: 71,676,595 (GRCm39)	A993T	probably benign	Het
Jakmip3	T	A	7: 138,620,903 (GRCm39)	I234N	probably damaging	Het
Kcnh7	A	G	2: 62,566,379 (GRCm39)	F851L	probably damaging	Het
Krr1	A	G	10: 111,811,504 (GRCm39)	Y66C	probably damaging	Het
Krt33a	T	A	11: 99,906,693 (GRCm39)	Q94L	probably benign	Het
Mat1a	A	T	14: 40,844,476 (GRCm39)	K369*	probably null	Het
Mbd1	T	G	18: 74,407,804 (GRCm39)	L277R	probably damaging	Het
Mmp21	C	T	7: 133,280,562 (GRCm39)	G136D	probably benign	Het
Mroh3	A	G	1: 136,109,532 (GRCm39)	Y892H	possibly damaging	Het
Ncbp3	G	A	11: 72,964,193 (GRCm39)	R381Q	probably damaging	Het
Nlrp2	T	A	7: 5,322,167 (GRCm39)	I827L	probably benign	Het
Nrip1	T	A	16: 76,091,587 (GRCm39)		probably null	Het
Or2ak4	A	T	11: 58,648,755 (GRCm39)	D88V	probably benign	Het
Or4f6	A	G	2: 111,839,093 (GRCm39)	V146A	probably benign	Het
Or5w13	C	T	2: 87,523,336 (GRCm39)	V297I	probably damaging	Het
Oxt	C	T	2: 130,418,710 (GRCm39)	P107L	possibly damaging	Het
Pcdhga2	G	A	18: 37,803,481 (GRCm39)	V442M	probably damaging	Het
Phtf1	T	G	3: 103,876,429 (GRCm39)	S10A	probably benign	Het
Plb1	A	C	5: 32,487,211 (GRCm39)	N902T	probably damaging	Het
Plppr3	T	C	10: 79,702,272 (GRCm39)	I267V	probably benign	Het
Pms2	C	A	5: 143,856,357 (GRCm39)	H278Q	possibly damaging	Het
Pmvk	T	A	3: 89,376,158 (GRCm39)	S154T	possibly damaging	Het
Polr3b	T	A	10: 84,491,855 (GRCm39)	M338K	probably damaging	Het
Ppp1r21	T	A	17: 88,863,110 (GRCm39)	I283N	probably damaging	Het
Ptprj	A	T	2: 90,282,501 (GRCm39)		probably null	Het
Rft1	T	A	14: 30,388,724 (GRCm39)	L216H	probably damaging	Het
Rpl3	G	A	15: 79,965,258 (GRCm39)	P174S	probably benign	Het
Rtl1	T	C	12: 109,561,818 (GRCm39)	D7G	possibly damaging	Het
Slc13a2	A	G	11: 78,289,223 (GRCm39)	V496A	probably damaging	Het
Slc14a1	A	G	18: 78,156,879 (GRCm39)		probably null	Het
Slc8a3	T	C	12: 81,361,158 (GRCm39)	R554G	probably damaging	Het
Spata31d1b	T	C	13: 59,863,577 (GRCm39)	S242P	possibly damaging	Het
Spocd1	G	A	4: 129,823,535 (GRCm39)	V111I		Het
Stxbp5l	G	A	16: 37,030,534 (GRCm39)	A479V	probably null	Het
Tasor2	A	G	13: 3,623,777 (GRCm39)	S2058P	probably damaging	Het
Tmem238	C	G	7: 4,792,226 (GRCm39)	G106R	probably damaging	Het
Trak1	T	G	9: 121,301,652 (GRCm39)	Y803D	probably damaging	Het
Trim5	T	C	7: 103,925,884 (GRCm39)	S226G	possibly damaging	Het
Trim6	T	A	7: 103,881,068 (GRCm39)	D282E	possibly damaging	Het
Ube2e2	A	G	14: 18,586,997 (GRCm38)	V121A	probably benign	Het
Unc13c	C	T	9: 73,441,185 (GRCm39)		probably null	Het
Wfs1	A	G	5: 37,125,578 (GRCm39)	S438P	probably benign	Het
Zbtb6	A	C	2: 37,319,087 (GRCm39)	D280E	probably benign	Het
Zfp595	G	A	13: 67,465,817 (GRCm39)	L152F	probably damaging	Het
Zfpm2	A	G	15: 40,966,671 (GRCm39)	E1052G	possibly damaging	Het
Zmym5	A	G	14: 57,041,653 (GRCm39)	V150A	probably benign	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
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
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'- GCAGTGATACCCCTCTGACTAG -3'
(R):5'- ATCAGCTTGACCTGTGGCAC -3'

Sequencing Primer
(F):5'- CCCTCTGACTAGAACAGTAGGG -3'
(R):5'- CCTGTGGCACAGCGCAC -3'

Posted On

2019-11-12