Mutagenetix > Incidental Mutation

Incidental Mutation 'R6897:Ufd1'

538423

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

044991-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6897 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18630529-18654011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18645850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 254 (I254N)

Ref Sequence

ENSEMBL: ENSMUSP00000111241 (fasta)

Gene Model

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

AlphaFold

P70362

Predicted Effect

probably benign
Transcript: ENSMUST00000005394
AA Change: I254N

PolyPhen 2 Score 0.291 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000005394
Gene: ENSMUSG00000005262
AA Change: I254N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115578
AA Change: I254N

PolyPhen 2 Score 0.291 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000111241
Gene: ENSMUSG00000005262
AA Change: I254N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,889,534 (GRCm39)	I28V	possibly damaging	Het
Adamts2	A	T	11: 50,627,991 (GRCm39)		probably null	Het
Adgrg1	T	C	8: 95,729,126 (GRCm39)	F17L	probably benign	Het
Aldob	A	G	4: 49,539,789 (GRCm39)	L183P	probably damaging	Het
Alg5	T	C	3: 54,656,063 (GRCm39)	C270R	probably benign	Het
Anxa4	T	A	6: 86,720,160 (GRCm39)		probably null	Het
Armc2	C	A	10: 41,869,225 (GRCm39)		probably null	Het
Atrnl1	A	G	19: 58,030,800 (GRCm39)	N1314S	probably benign	Het
Bbs7	T	A	3: 36,652,460 (GRCm39)	E331V	probably benign	Het
Bmper	T	A	9: 23,285,225 (GRCm39)	V258E	probably benign	Het
Catspere2	A	T	1: 177,939,139 (GRCm39)	I671F	possibly damaging	Het
Cd101	A	G	3: 100,920,376 (GRCm39)	S508P	probably damaging	Het
Cd177	C	T	7: 24,444,499 (GRCm39)	R694H	probably benign	Het
Clptm1	C	A	7: 19,369,751 (GRCm39)	Q386H	possibly damaging	Het
Cnrip1	A	G	11: 17,004,705 (GRCm39)	Y85C	probably damaging	Het
Dclk2	A	T	3: 86,739,070 (GRCm39)	F310I	probably benign	Het
Dmxl1	A	G	18: 49,984,562 (GRCm39)	K186R	probably null	Het
Dmxl1	C	A	18: 49,996,124 (GRCm39)	Q417K	possibly damaging	Het
Eloa	T	C	4: 135,740,220 (GRCm39)	D67G	possibly damaging	Het
Elovl4	T	C	9: 83,665,278 (GRCm39)	I103V	probably benign	Het
Gabpa	C	G	16: 84,657,361 (GRCm39)	A412G	probably benign	Het
Gldn	T	A	9: 54,242,158 (GRCm39)		probably null	Het
Ino80d	A	T	1: 63,104,993 (GRCm39)	I361N	probably damaging	Het
Kalrn	G	A	16: 33,796,073 (GRCm39)	T1234M	probably damaging	Het
Kcnk13	T	A	12: 100,028,026 (GRCm39)	M367K	probably benign	Het
Klrd1	G	A	6: 129,570,468 (GRCm39)	R8Q	possibly damaging	Het
Kmt2a	T	C	9: 44,758,942 (GRCm39)	N969S	probably benign	Het
Lgi4	A	G	7: 30,768,315 (GRCm39)	D438G	probably benign	Het
Lig1	T	C	7: 13,039,840 (GRCm39)	L684P	probably damaging	Het
Lrp2	T	C	2: 69,340,846 (GRCm39)	M1010V	probably benign	Het
Magi3	C	A	3: 103,996,873 (GRCm39)	R224I	probably damaging	Het
Mier2	T	C	10: 79,380,573 (GRCm39)	N277S	probably damaging	Het
Morn1	A	G	4: 155,171,112 (GRCm39)	H17R	probably benign	Het
Nf2	A	T	11: 4,749,878 (GRCm39)	S265T	probably damaging	Het
Or5m11b	A	G	2: 85,805,700 (GRCm39)	T38A	possibly damaging	Het
Or8k24	G	A	2: 86,216,024 (GRCm39)	T246I	possibly damaging	Het
Palb2	A	G	7: 121,726,270 (GRCm39)		probably null	Het
Pdzd2	C	T	15: 12,385,951 (GRCm39)	V940M	probably damaging	Het
Phldb2	T	C	16: 45,598,138 (GRCm39)	K850E	probably damaging	Het
Pitx1	G	A	13: 55,976,335 (GRCm39)	T108M	probably damaging	Het
Polr2a	C	T	11: 69,626,787 (GRCm39)	A1516T	probably benign	Het
Pomp	T	A	5: 147,812,313 (GRCm39)	M133K	possibly damaging	Het
Prex1	T	C	2: 166,423,913 (GRCm39)	E993G	probably damaging	Het
Prrc2c	C	A	1: 162,533,075 (GRCm39)		probably benign	Het
Pwp2	C	A	10: 78,007,917 (GRCm39)	Q879H	probably damaging	Het
Rab26	G	A	17: 24,748,766 (GRCm39)	T245I	probably damaging	Het
Rapgef1	A	G	2: 29,592,514 (GRCm39)	D502G	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sema5a	T	A	15: 32,550,421 (GRCm39)	D153E	probably benign	Het
Sez6	C	G	11: 77,844,385 (GRCm39)	H69Q	probably damaging	Het
Sgsm3	A	T	15: 80,893,095 (GRCm39)	T391S	probably benign	Het
Sh3rf2	T	C	18: 42,234,670 (GRCm39)	V151A	possibly damaging	Het
Socs1	G	T	16: 10,602,266 (GRCm39)	A157E	probably benign	Het
Spmip4	T	A	6: 50,566,145 (GRCm39)	Q110L	possibly damaging	Het
Sptbn4	C	A	7: 27,071,375 (GRCm39)	V346L	possibly damaging	Het
Srgap1	T	A	10: 121,621,523 (GRCm39)	H990L	probably damaging	Het
Tbc1d9	G	T	8: 83,892,809 (GRCm39)	G36W	probably damaging	Het
Tbk1	T	C	10: 121,395,782 (GRCm39)	E437G	probably benign	Het
Tns3	A	G	11: 8,481,743 (GRCm39)	L203P	probably damaging	Het
Tspoap1	A	T	11: 87,656,638 (GRCm39)	K283M	probably damaging	Het
Ttyh1	C	T	7: 4,127,649 (GRCm39)		probably benign	Het
Ugdh	T	G	5: 65,584,776 (GRCm39)	T49P	probably benign	Het
Vav3	T	C	3: 109,434,810 (GRCm39)	L447P	probably damaging	Het
Vmn1r216	A	T	13: 23,283,445 (GRCm39)	K43*	probably null	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r13	A	G	5: 109,306,015 (GRCm39)	I521T	possibly damaging	Het
Wdfy3	T	C	5: 101,991,932 (GRCm39)	T3470A	probably benign	Het
Wdhd1	T	A	14: 47,485,587 (GRCm39)	K791N	probably damaging	Het
Xirp2	A	G	2: 67,338,911 (GRCm39)	D384G	probably damaging	Het
Zfp512b	C	T	2: 181,232,273 (GRCm39)	R86Q	probably damaging	Het
Zfp735	A	C	11: 73,601,880 (GRCm39)	I275L	probably benign	Het
Zfp957	A	T	14: 79,451,344 (GRCm39)	S152T	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
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
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'- AGAGTTCTTGGGCTTCCTGC -3'
(R):5'- ATTGTGCTCTACCAGTGTCAG -3'

Sequencing Primer
(F):5'- TGGCAGTGCACCAACTC -3'
(R):5'- TGCTCTACCAGTGTCAGAGAGC -3'

Posted On

2018-11-06