Mutagenetix > Incidental Mutation

Incidental Mutation 'R1899:Uso1'

214073

Institutional Source

Beutler Lab

Gene Symbol

Uso1

Ensembl Gene

ENSMUSG00000029407

Gene Name

USO1 vesicle docking factor

Synonyms

Vdp, TAP, transcytosis associated protein p115

MMRRC Submission

039919-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1899 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92137938-92202798 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92201192 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 819 (S819T)

Ref Sequence

ENSEMBL: ENSMUSP00000144592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031355] [ENSMUST00000201642] [ENSMUST00000202155]

AlphaFold

Q9Z1Z0

Predicted Effect

probably benign
Transcript: ENSMUST00000031355
AA Change: S881T

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000031355
Gene: ENSMUSG00000029407
AA Change: S881T

Domain	Start	End	E-Value	Type
Blast:ARM	47	91	1e-18	BLAST
low complexity region	94	100	N/A	INTRINSIC
Blast:ARM	155	195	2e-15	BLAST
Blast:ARM	300	342	3e-19	BLAST
Pfam:Uso1_p115_head	344	628	6.5e-72	PFAM
low complexity region	630	643	N/A	INTRINSIC
low complexity region	661	672	N/A	INTRINSIC
low complexity region	730	744	N/A	INTRINSIC
Pfam:Uso1_p115_C	782	954	1.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201642

SMART Domains

Protein: ENSMUSP00000144165
Gene: ENSMUSG00000029407

Domain	Start	End	E-Value	Type
PDB:3GRL\|A	1	52	5e-24	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000202155
AA Change: S819T

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000144592
Gene: ENSMUSG00000029407
AA Change: S819T

Domain	Start	End	E-Value	Type
Blast:ARM	47	91	1e-18	BLAST
low complexity region	94	100	N/A	INTRINSIC
Blast:ARM	155	195	2e-15	BLAST
Blast:ARM	300	342	3e-19	BLAST
Pfam:Uso1_p115_head	344	628	5.7e-72	PFAM
low complexity region	630	643	N/A	INTRINSIC
low complexity region	661	672	N/A	INTRINSIC
Pfam:Uso1_p115_C	730	892	2.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202362

Meta Mutation Damage Score

0.0755

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

94% (94/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality between E3.5 and E8.5 with disruption of Golgi apparatus in blastocyst cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,258,342	W378R	probably benign	Het
4930522L14Rik	T	A	5: 109,736,798	Q398L	probably benign	Het
4930596D02Rik	T	G	14: 35,810,132	K162T	probably damaging	Het
Abca8b	G	T	11: 109,937,918	T1353K	possibly damaging	Het
Abcg3	A	C	5: 104,938,199	C565G	probably damaging	Het
Actr3b	G	A	5: 25,829,538	V185I	possibly damaging	Het
Akap6	A	T	12: 53,141,852	E2016D	possibly damaging	Het
Aldh3b2	T	C	19: 3,978,662	V148A	possibly damaging	Het
Ankfy1	C	T	11: 72,754,407	Q771*	probably null	Het
Anks1b	A	G	10: 90,260,756	D425G	probably damaging	Het
Arrb1	T	C	7: 99,582,297		probably benign	Het
Atg2a	C	A	19: 6,245,067	T170N	probably damaging	Het
Atp8b5	C	T	4: 43,361,804	R617C	possibly damaging	Het
Bicra	T	C	7: 15,987,751	T614A	possibly damaging	Het
Cacna1i	A	G	15: 80,391,642	D167G	possibly damaging	Het
Calr4	T	G	4: 109,246,293		probably null	Het
Camsap3	G	T	8: 3,603,922	E515*	probably null	Het
Casp8ap2	T	C	4: 32,643,647	S907P	probably damaging	Het
Cdk19	T	A	10: 40,479,780		probably benign	Het
Chst14	A	G	2: 118,927,015	M122V	possibly damaging	Het
Cntn4	A	G	6: 106,675,813	M748V	probably benign	Het
Col7a1	A	G	9: 108,978,888	D2552G	unknown	Het
Cpeb2	C	A	5: 43,277,587	P600Q	probably damaging	Het
Cyp2a5	C	T	7: 26,839,033	R274*	probably null	Het
Dexi	A	G	16: 10,542,518	F58S	probably damaging	Het
Dlg5	C	A	14: 24,148,300	G1522W	probably damaging	Het
Dock2	T	C	11: 34,294,286	H1048R	probably benign	Het
Dpp4	T	C	2: 62,345,050		probably benign	Het
Dusp10	A	T	1: 184,069,180	K381N	possibly damaging	Het
Ercc4	A	G	16: 13,147,787	E761G	probably damaging	Het
Ern2	T	C	7: 122,183,842		probably benign	Het
Fam83f	A	T	15: 80,692,080	T311S	probably damaging	Het
Fat2	T	C	11: 55,262,178	D3736G	probably benign	Het
Fgf11	G	T	11: 69,801,453	T58K	probably benign	Het
Galntl5	C	G	5: 25,198,532	S167*	probably null	Het
Glg1	T	G	8: 111,165,674	E846D	probably benign	Het
Grm8	C	A	6: 28,125,895	E77D	probably damaging	Het
Hmcn1	A	T	1: 150,657,451	D3028E	probably damaging	Het
Htt	A	G	5: 34,907,085	I2943V	probably benign	Het
Ift80	T	C	3: 68,918,513	K498R	probably benign	Het
Ipo9	A	T	1: 135,400,146	M509K	probably damaging	Het
Kcnj3	T	C	2: 55,437,244	V15A	probably damaging	Het
Kcnn3	A	T	3: 89,520,455		probably benign	Het
Larp1b	T	A	3: 40,964,084	D53E	probably benign	Het
Ltf	T	C	9: 111,022,845	F117L	possibly damaging	Het
Maml1	A	G	11: 50,266,130	L406P	probably damaging	Het
Mnx1	G	A	5: 29,473,957	A376V	unknown	Het
Mroh2a	G	A	1: 88,235,376	R376H	probably benign	Het
Mrpl4	A	G	9: 21,006,831	Y111C	probably damaging	Het
Mto1	T	C	9: 78,461,517		probably benign	Het
Nalcn	A	T	14: 123,316,126	M972K	possibly damaging	Het
Nemf	T	C	12: 69,346,378	I225V	probably null	Het
Nipal4	T	G	11: 46,150,231	D379A	probably damaging	Het
Nktr	A	G	9: 121,748,866		probably benign	Het
Nlrp5	A	G	7: 23,404,797	T28A	probably benign	Het
Nxph1	T	A	6: 9,247,622	Y198N	probably damaging	Het
Olfr1037	A	T	2: 86,085,720	V19D	probably benign	Het
Olfr1230	T	C	2: 89,296,670	N200S	probably damaging	Het
Olfr1436	T	C	19: 12,298,343	Y263C	probably damaging	Het
P2rx7	A	G	5: 122,673,736	Y370C	probably benign	Het
Piezo1	T	C	8: 122,482,645		probably benign	Het
Piezo1	T	C	8: 122,489,566	D1401G	probably damaging	Het
Plxnd1	A	G	6: 115,969,363	L879P	probably benign	Het
Polr2a	A	T	11: 69,743,946	I636N	probably damaging	Het
Prex2	G	T	1: 11,162,366	E886*	probably null	Het
Proca1	A	T	11: 78,205,021	I73F	probably damaging	Het
Prss55	A	T	14: 64,079,390	V101E	probably benign	Het
Psg26	T	A	7: 18,478,425	H335L	probably benign	Het
Rai1	A	G	11: 60,185,920	E270G	probably benign	Het
Reep1	A	G	6: 71,780,797	N127D	probably benign	Het
Rims1	G	T	1: 22,428,474	P769Q	probably damaging	Het
Robo4	A	T	9: 37,404,070		probably benign	Het
Ryr2	A	T	13: 11,591,336	D888E	probably benign	Het
Scamp3	A	G	3: 89,180,260	N135D	probably damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sema4f	A	G	6: 82,918,029	M395T	probably benign	Het
Sgip1	T	C	4: 102,968,337		probably null	Het
Sik2	A	T	9: 50,995,674		probably benign	Het
Smtn	G	T	11: 3,531,326	A223D	possibly damaging	Het
Spen	T	C	4: 141,470,343	T3405A	probably benign	Het
Srebf1	A	G	11: 60,203,486	L601P	probably damaging	Het
Srsf11	A	T	3: 158,031,580		probably benign	Het
Tacc2	T	G	7: 130,624,202	S891R	possibly damaging	Het
Tbc1d17	T	A	7: 44,841,633		probably benign	Het
Tgfbr3l	C	A	8: 4,249,600	R128S	probably damaging	Het
Thsd1	G	A	8: 22,252,318		probably benign	Het
Tlx3	T	C	11: 33,203,072	S130G	probably benign	Het
Tmem25	A	T	9: 44,798,216		probably null	Het
Trak2	A	T	1: 58,946,336	M1K	probably null	Het
Trappc12	C	T	12: 28,746,985	E183K	probably damaging	Het
Ubl3	A	G	5: 148,509,280	V71A	possibly damaging	Het
Unc50	A	G	1: 37,438,799	Y254C	probably damaging	Het
Unkl	T	C	17: 25,229,460		probably null	Het
Yes1	A	T	5: 32,645,051	R103S	probably damaging	Het
Zfp131	A	G	13: 119,767,025	V396A	probably damaging	Het
Zfp553	T	C	7: 127,235,654	I127T	possibly damaging	Het
Zfp599	A	T	9: 22,251,549	N102K	probably benign	Het
Zmynd10	A	T	9: 107,550,037	Q288L	probably benign	Het

Other mutations in Uso1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01522:Uso1	APN	5	92181419	missense	probably damaging	0.96
IGL01753:Uso1	APN	5	92152918	critical splice donor site	probably null
IGL02311:Uso1	APN	5	92187776	missense	probably benign
IGL02539:Uso1	APN	5	92187773	missense	probably damaging	1.00
IGL02716:Uso1	APN	5	92173935	missense	probably damaging	0.99
IGL03154:Uso1	APN	5	92180618	nonsense	probably null
R0558:Uso1	UTSW	5	92174019	missense	probably benign	0.03
R0570:Uso1	UTSW	5	92199823	missense	probably benign	0.19
R1195:Uso1	UTSW	5	92170747	missense	probably damaging	1.00
R1195:Uso1	UTSW	5	92170747	missense	probably damaging	1.00
R1195:Uso1	UTSW	5	92170747	missense	probably damaging	1.00
R1398:Uso1	UTSW	5	92181468	missense	probably benign	0.16
R1485:Uso1	UTSW	5	92180563	missense	possibly damaging	0.76
R1813:Uso1	UTSW	5	92201133	critical splice acceptor site	probably null
R1873:Uso1	UTSW	5	92192859	splice site	probably benign
R1896:Uso1	UTSW	5	92201133	critical splice acceptor site	probably null
R2049:Uso1	UTSW	5	92181936	missense	probably damaging	1.00
R2128:Uso1	UTSW	5	92195370	missense	probably benign
R2411:Uso1	UTSW	5	92158399	splice site	probably benign
R2903:Uso1	UTSW	5	92195435	critical splice donor site	probably null
R5055:Uso1	UTSW	5	92192735	missense	probably benign	0.31
R5155:Uso1	UTSW	5	92167335	critical splice donor site	probably null
R5590:Uso1	UTSW	5	92180608	missense	probably benign	0.05
R5665:Uso1	UTSW	5	92198337	missense	possibly damaging	0.95
R5677:Uso1	UTSW	5	92201299	missense	probably damaging	1.00
R5996:Uso1	UTSW	5	92192730	missense	probably benign	0.00
R6165:Uso1	UTSW	5	92187267	missense	probably damaging	1.00
R6340:Uso1	UTSW	5	92199852	missense	probably benign	0.01
R6701:Uso1	UTSW	5	92166585	missense	probably damaging	1.00
R6860:Uso1	UTSW	5	92195348	missense	probably benign	0.11
R7062:Uso1	UTSW	5	92192740	missense	possibly damaging	0.62
R7133:Uso1	UTSW	5	92158465	missense	probably benign	0.12
R7317:Uso1	UTSW	5	92173992	missense	possibly damaging	0.70
R7527:Uso1	UTSW	5	92199875	missense	possibly damaging	0.58
R7648:Uso1	UTSW	5	92194002	splice site	probably null
R7707:Uso1	UTSW	5	92201936	makesense	probably null
R8009:Uso1	UTSW	5	92166580	missense	probably benign	0.03
R8104:Uso1	UTSW	5	92158421	missense	probably damaging	0.99
R8361:Uso1	UTSW	5	92189262	missense	probably null	0.00
R8519:Uso1	UTSW	5	92195363	missense	probably benign
R9052:Uso1	UTSW	5	92180563	missense	probably damaging	1.00
R9142:Uso1	UTSW	5	92187266	nonsense	probably null
R9221:Uso1	UTSW	5	92187314	missense	probably benign	0.38
R9492:Uso1	UTSW	5	92167332	missense	possibly damaging	0.77
R9642:Uso1	UTSW	5	92138108	missense	probably damaging	1.00
Z1177:Uso1	UTSW	5	92138130	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GACATCAAGACTATTGTGGCTACTG -3'
(R):5'- CATGTGTGGAAACGTGAGGC -3'

Sequencing Primer
(F):5'- CCATATCTGCCATCCAGGG -3'
(R):5'- CGTCTTACTGGATGACCGAGATC -3'

Posted On

2014-07-14