Mutagenetix > Incidental Mutations

Incidental Mutation 'R7348:Ufd1'

590963

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7348 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18811779-18835261 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to G at 18815885 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000028] [ENSMUST00000005394] [ENSMUST00000096990] [ENSMUST00000115578] [ENSMUST00000115585] [ENSMUST00000163695] [ENSMUST00000171789] [ENSMUST00000172013]

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 benign
Transcript: ENSMUST00000005394

SMART Domains

Protein: ENSMUSP00000005394
Gene: ENSMUSG00000005262

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 benign
Transcript: ENSMUST00000115578

SMART Domains

Protein: ENSMUSP00000111241
Gene: ENSMUSG00000005262

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

unknown
Transcript: ENSMUST00000163695
AA Change: L68R

SMART Domains

Protein: ENSMUSP00000132341
Gene: ENSMUSG00000005262
AA Change: L68R

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: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	G	A	15: 41,866,159	R282C	probably damaging	Het
Adcy2	T	A	13: 68,734,675	E314D	possibly damaging	Het
Adgrl2	A	T	3: 148,817,766	I274N		Het
Adpgk	A	G	9: 59,313,786	I292V	probably benign	Het
Agtrap	G	T	4: 148,080,597	F124L	probably benign	Het
Ankrd26	A	G	6: 118,508,564	Y1450H	probably damaging	Het
Ap4e1	A	T	2: 127,061,976	S933C	probably damaging	Het
Ap4e1	G	T	2: 127,061,977	S933I	possibly damaging	Het
Ap5s1	A	T	2: 131,212,652	T128S	possibly damaging	Het
Arih1	T	C	9: 59,486,058	Y97C	probably damaging	Het
Atp1a3	A	G	7: 24,978,826	F1034S	unknown	Het
Bmp6	T	C	13: 38,485,903	S388P	probably benign	Het
Ccdc39	A	G	3: 33,832,676	V261A	possibly damaging	Het
Ccdc66	C	T	14: 27,500,336	C150Y	probably damaging	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Cln6	A	G	9: 62,849,176	S201G	probably benign	Het
Cntnap4	T	C	8: 112,665,277	Y125H	probably damaging	Het
Copa	A	G	1: 172,102,223	T286A	possibly damaging	Het
Cul9	A	T	17: 46,510,993	I1852K	possibly damaging	Het
Cyp2j8	C	A	4: 96,444,640	A490S	probably benign	Het
Cyp2t4	A	G	7: 27,157,251	I239V	probably benign	Het
E2f7	C	T	10: 110,780,975	T692I	probably damaging	Het
Fastkd5	A	G	2: 130,615,135	Y512H	probably damaging	Het
Fastkd5	A	C	2: 130,616,439	M77R	probably benign	Het
Fhod3	A	G	18: 25,090,467	R957G	possibly damaging	Het
Gm17018	A	G	19: 45,572,466	Y111C	probably damaging	Het
H6pd	C	A	4: 149,983,902		probably null	Het
Haus5	G	T	7: 30,656,966	P544Q	possibly damaging	Het
Ifi207	CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	1: 173,729,196		probably benign	Het
Igf2r	A	G	17: 12,703,484	Y1248H	probably damaging	Het
Izumo3	T	C	4: 92,147,218	N6S	possibly damaging	Het
Lrp6	G	T	6: 134,450,818	P1604T	probably damaging	Het
Map3k8	T	A	18: 4,340,561	H251L	probably damaging	Het
Mapre3	T	C	5: 30,861,829	Y6H	probably benign	Het
Mlh3	G	T	12: 85,267,441	P657Q	probably damaging	Het
Mrgpra1	T	C	7: 47,335,409	Y174C	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myh1	C	A	11: 67,202,539	P152Q	probably damaging	Het
Myh6	A	T	14: 54,952,259	L1110Q	probably damaging	Het
Nf1	T	A	11: 79,536,850	S1778T	probably benign	Het
Nkpd1	G	A	7: 19,524,416	E707K	probably damaging	Het
Nlrp4a	A	G	7: 26,444,273	E21G	probably damaging	Het
Nr4a3	T	G	4: 48,051,290	S15A	possibly damaging	Het
Olfr1354	A	G	10: 78,917,562	T241A	probably damaging	Het
Olfr453	T	C	6: 42,744,856	L273S	possibly damaging	Het
Olfr488	T	C	7: 108,256,123	D5G	probably benign	Het
Olfr491	T	C	7: 108,317,713	V273A	possibly damaging	Het
Parg	G	A	14: 32,250,079	R677Q	possibly damaging	Het
Pcsk5	A	T	19: 17,456,818	C1395*	probably null	Het
Psd2	G	A	18: 35,980,336	S287N	possibly damaging	Het
Psd3	T	C	8: 67,790,931	N685S	possibly damaging	Het
Pygb	C	T	2: 150,786,983	T39M	probably benign	Het
Rbfox1	C	A	16: 7,408,024	Y351*	probably null	Het
Rftn1	A	G	17: 50,004,323	L396P	probably damaging	Het
S1pr1	A	G	3: 115,712,061	Y295H	probably damaging	Het
Scn5a	T	C	9: 119,535,833	M440V	probably benign	Het
Sel1l2	T	C	2: 140,265,724	N240S	probably benign	Het
Skint1	T	C	4: 112,021,573	L234P	probably damaging	Het
Skint11	T	A	4: 114,244,722	Y311N	probably benign	Het
Slc6a5	A	T	7: 49,910,167		probably benign	Het
Tas2r134	T	C	2: 51,628,402	S298P	possibly damaging	Het
Tbcd	C	A	11: 121,594,311	A773D	probably benign	Het
Tgoln1	G	C	6: 72,616,278	T73R	probably benign	Het
Tmem184a	T	C	5: 139,814,054	E24G	probably null	Het
Tmem207	C	A	16: 26,516,827	W53C	possibly damaging	Het
Tns1	T	A	1: 73,916,917	H549L	possibly damaging	Het
Ttc37	T	C	13: 76,182,884	F1478L	possibly damaging	Het
Ttc41	G	T	10: 86,750,348	E839*	probably null	Het
Usp28	A	G	9: 49,030,877	E713G	probably benign	Het
Utrn	A	G	10: 12,748,018	W159R	probably damaging	Het
Vcl	C	T	14: 21,003,150	A411V	probably benign	Het
Vcl	T	A	14: 21,008,952	C545*	probably null	Het
Vmn1r120	A	T	7: 21,053,452	S111R	probably damaging	Het
Wwox	T	A	8: 114,472,652	C146S	probably benign	Het
Zbtb2	T	C	10: 4,374,574	T57A	possibly damaging	Het
Zfp362	T	C	4: 128,777,217	D336G	possibly damaging	Het
Zfp628	G	A	7: 4,921,818	G1013E	probably damaging	Het
Zfp704	A	G	3: 9,474,598	S231P	probably damaging	Het
Zhx3	G	T	2: 160,782,118	S43*	probably null	Het

Other mutations in Ufd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Ufd1	APN	16	18827718	unclassified	probably benign
IGL00944:Ufd1	APN	16	18825031	missense	possibly damaging	0.89
IGL01104:Ufd1	APN	16	18814837	missense	probably damaging	1.00
IGL01292:Ufd1	APN	16	18821114	missense	probably damaging	0.99
IGL03381:Ufd1	APN	16	18825757	missense	probably damaging	0.99
BB001:Ufd1	UTSW	16	18823285	missense	possibly damaging	0.83
BB011:Ufd1	UTSW	16	18823285	missense	possibly damaging	0.83
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
R7303:Ufd1	UTSW	16	18817965	missense	probably damaging	0.99
R7657:Ufd1	UTSW	16	18817963	missense	probably benign
R7913:Ufd1	UTSW	16	18814866	missense	probably benign	0.01
R7924:Ufd1	UTSW	16	18823285	missense	possibly damaging	0.83
R8389:Ufd1	UTSW	16	18821103	missense	possibly damaging	0.91
Z1177:Ufd1	UTSW	16	18823283	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATACTGTGGTGTGGGCTCAC -3'
(R):5'- GATCTGGTCTAAATCCCACTGATTC -3'

Sequencing Primer
(F):5'- CTCACTAGGTTGTCTTCCTAAAGGG -3'
(R):5'- CCATTCCAAAGTATCTTTCTGGACAC -3'

Posted On

2019-10-25