Mutagenetix > Incidental Mutation

Incidental Mutation 'R7317:Uso1'

563460

Institutional Source

Beutler Lab

Gene Symbol

Uso1

Ensembl Gene

ENSMUSG00000029407

Gene Name

USO1 vesicle docking factor

Synonyms

transcytosis associated protein p115, TAP, Vdp

MMRRC Submission

045369-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7317 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92285797-92350657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92321851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 248 (N248S)

Ref Sequence

ENSEMBL: ENSMUSP00000031355 (fasta)

Gene Model

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

AlphaFold

Q9Z1Z0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031355
AA Change: N248S

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031355
Gene: ENSMUSG00000029407
AA Change: N248S

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

possibly damaging
Transcript: ENSMUST00000202155
AA Change: N248S

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144592
Gene: ENSMUSG00000029407
AA Change: N248S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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 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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	G	A	5: 8,140,202 (GRCm39)	P832L	probably benign	Het
Adamts17	C	T	7: 66,490,304 (GRCm39)	R129*	probably null	Het
Alg5	G	T	3: 54,656,752 (GRCm39)	R321L	probably benign	Het
Amotl1	T	A	9: 14,486,515 (GRCm39)	T460S	probably benign	Het
Ankrd50	T	C	3: 38,537,332 (GRCm39)	E7G	possibly damaging	Het
Ap3b2	T	C	7: 81,110,776 (GRCm39)	T1000A	unknown	Het
Arap2	G	A	5: 62,807,067 (GRCm39)	T1200M	probably damaging	Het
Asb2	A	T	12: 103,299,616 (GRCm39)	I272N	probably damaging	Het
Bicd2	T	C	13: 49,531,784 (GRCm39)	L342P	probably damaging	Het
C1qtnf6	T	A	15: 78,409,206 (GRCm39)	I214F	probably damaging	Het
Cdc42bpg	T	A	19: 6,364,534 (GRCm39)	H587Q	probably benign	Het
Cfap70	T	A	14: 20,450,502 (GRCm39)	I1010F	possibly damaging	Het
Chd1	A	T	17: 15,962,536 (GRCm39)	K764N	possibly damaging	Het
Cluh	A	G	11: 74,556,530 (GRCm39)	D956G	possibly damaging	Het
Ehbp1l1	T	C	19: 5,770,730 (GRCm39)	D243G	probably benign	Het
Ercc4	T	C	16: 12,939,977 (GRCm39)	V169A	probably benign	Het
Erich6	T	C	3: 58,544,305 (GRCm39)	E94G	probably benign	Het
Fubp3	A	G	2: 31,494,624 (GRCm39)		probably null	Het
Gabbr1	C	T	17: 37,380,305 (GRCm39)	T736I	probably damaging	Het
Garre1	A	G	7: 33,963,072 (GRCm39)	V200A	probably benign	Het
Gm14496	T	A	2: 181,637,613 (GRCm39)	M229K	possibly damaging	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 141,719,157 (GRCm39)		probably benign	Het
Gspt1	T	C	16: 11,040,521 (GRCm39)	T596A	probably benign	Het
H1f4	A	G	13: 23,806,350 (GRCm39)	I44T	probably damaging	Het
Htr5b	T	A	1: 121,438,157 (GRCm39)	Y358F	probably damaging	Het
Il18r1	A	T	1: 40,513,992 (GRCm39)	Y66F	possibly damaging	Het
Il18rap	A	G	1: 40,564,536 (GRCm39)	T189A	probably damaging	Het
Irag2	G	A	6: 145,104,424 (GRCm39)	G164R	possibly damaging	Het
Itgav	G	T	2: 83,625,327 (GRCm39)	A771S	probably benign	Het
Klf11	T	C	12: 24,705,518 (GRCm39)	V324A	possibly damaging	Het
Krtap15-1	T	C	16: 88,626,193 (GRCm39)	C87R	probably benign	Het
Mapk8ip3	C	T	17: 25,120,692 (GRCm39)	G807D	probably benign	Het
Mbd5	A	G	2: 49,169,755 (GRCm39)	D1642G	probably benign	Het
Med15	G	T	16: 17,489,507 (GRCm39)	Q356K	unknown	Het
Mmp3	A	G	9: 7,446,937 (GRCm39)	Y39C	probably damaging	Het
Mon2	A	G	10: 122,849,851 (GRCm39)	S1149P	probably damaging	Het
Msh3	A	G	13: 92,422,512 (GRCm39)	I548T	probably damaging	Het
Noc2l	T	A	4: 156,323,673 (GRCm39)	V179E	possibly damaging	Het
Or4b1b	A	T	2: 90,112,748 (GRCm39)	M57K	probably damaging	Het
Or5k3	T	G	16: 58,969,684 (GRCm39)	M157R	possibly damaging	Het
Or5p64	G	T	7: 107,854,425 (GRCm39)	Q307K	probably benign	Het
Oxa1l	A	T	14: 54,598,312 (GRCm39)	M1L	probably benign	Het
Pcdhb10	A	T	18: 37,546,079 (GRCm39)	Q385L	possibly damaging	Het
Pdzd2	T	C	15: 12,592,329 (GRCm39)	K105R	probably damaging	Het
Pex1	A	T	5: 3,668,875 (GRCm39)	D582V	probably damaging	Het
Pheta1	A	T	5: 121,991,336 (GRCm39)	T233S	possibly damaging	Het
Pi4ka	A	G	16: 17,223,496 (GRCm39)		probably null	Het
Pigw	T	C	11: 84,768,066 (GRCm39)	N421S	probably benign	Het
Plek	T	C	11: 16,944,739 (GRCm39)	K97R	probably benign	Het
R3hcc1l	C	T	19: 42,571,979 (GRCm39)	R753*	probably null	Het
R3hdml	G	A	2: 163,344,367 (GRCm39)	W252*	probably null	Het
Septin12	T	C	16: 4,809,599 (GRCm39)	K238E	probably damaging	Het
Sgce	G	A	6: 4,691,615 (GRCm39)	T320I	probably benign	Het
Sidt2	A	T	9: 45,854,988 (GRCm39)	C562*	probably null	Het
Skint8	T	C	4: 111,796,717 (GRCm39)	C274R	possibly damaging	Het
Slc13a5	A	T	11: 72,135,953 (GRCm39)	M529K	probably damaging	Het
Smg8	T	G	11: 86,976,391 (GRCm39)	S397R	possibly damaging	Het
Spock3	G	T	8: 63,566,590 (GRCm39)	R68L	possibly damaging	Het
Stau2	T	A	1: 16,530,553 (GRCm39)	H122L	unknown	Het
Tent5a	G	C	9: 85,206,670 (GRCm39)	A376G	possibly damaging	Het
Tert	G	A	13: 73,790,495 (GRCm39)	R858H	probably damaging	Het
Tgm3	G	A	2: 129,890,211 (GRCm39)	R658Q	probably benign	Het
Tmc4	A	G	7: 3,672,918 (GRCm39)	I455T	probably benign	Het
Tmtc4	G	A	14: 123,215,593 (GRCm39)	P18S	probably benign	Het
Tnc	A	G	4: 63,890,959 (GRCm39)	I1641T	probably damaging	Het
Trav14-3	A	T	14: 54,000,951 (GRCm39)	N54I	probably damaging	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Unc5c	T	A	3: 141,495,703 (GRCm39)	M524K	probably benign	Het
Unc93a	A	G	17: 13,335,171 (GRCm39)	F292L	probably benign	Het
Usp5	A	G	6: 124,803,281 (GRCm39)	L73P	probably damaging	Het
Utp20	T	A	10: 88,598,797 (GRCm39)	I60F	possibly damaging	Het
Vmn2r94	T	A	17: 18,463,882 (GRCm39)	I803F	probably benign	Het

Other mutations in Uso1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01522:Uso1	APN	5	92,329,278 (GRCm39)	missense	probably damaging	0.96
IGL01753:Uso1	APN	5	92,300,777 (GRCm39)	critical splice donor site	probably null
IGL02311:Uso1	APN	5	92,335,635 (GRCm39)	missense	probably benign
IGL02539:Uso1	APN	5	92,335,632 (GRCm39)	missense	probably damaging	1.00
IGL02716:Uso1	APN	5	92,321,794 (GRCm39)	missense	probably damaging	0.99
IGL03154:Uso1	APN	5	92,328,477 (GRCm39)	nonsense	probably null
R0558:Uso1	UTSW	5	92,321,878 (GRCm39)	missense	probably benign	0.03
R0570:Uso1	UTSW	5	92,347,682 (GRCm39)	missense	probably benign	0.19
R1195:Uso1	UTSW	5	92,318,606 (GRCm39)	missense	probably damaging	1.00
R1195:Uso1	UTSW	5	92,318,606 (GRCm39)	missense	probably damaging	1.00
R1195:Uso1	UTSW	5	92,318,606 (GRCm39)	missense	probably damaging	1.00
R1398:Uso1	UTSW	5	92,329,327 (GRCm39)	missense	probably benign	0.16
R1485:Uso1	UTSW	5	92,328,422 (GRCm39)	missense	possibly damaging	0.76
R1813:Uso1	UTSW	5	92,348,992 (GRCm39)	critical splice acceptor site	probably null
R1873:Uso1	UTSW	5	92,340,718 (GRCm39)	splice site	probably benign
R1896:Uso1	UTSW	5	92,348,992 (GRCm39)	critical splice acceptor site	probably null
R1899:Uso1	UTSW	5	92,349,051 (GRCm39)	missense	probably benign	0.27
R2049:Uso1	UTSW	5	92,329,795 (GRCm39)	missense	probably damaging	1.00
R2128:Uso1	UTSW	5	92,343,229 (GRCm39)	missense	probably benign
R2411:Uso1	UTSW	5	92,306,258 (GRCm39)	splice site	probably benign
R2903:Uso1	UTSW	5	92,343,294 (GRCm39)	critical splice donor site	probably null
R5055:Uso1	UTSW	5	92,340,594 (GRCm39)	missense	probably benign	0.31
R5155:Uso1	UTSW	5	92,315,194 (GRCm39)	critical splice donor site	probably null
R5590:Uso1	UTSW	5	92,328,467 (GRCm39)	missense	probably benign	0.05
R5665:Uso1	UTSW	5	92,346,196 (GRCm39)	missense	possibly damaging	0.95
R5677:Uso1	UTSW	5	92,349,158 (GRCm39)	missense	probably damaging	1.00
R5996:Uso1	UTSW	5	92,340,589 (GRCm39)	missense	probably benign	0.00
R6165:Uso1	UTSW	5	92,335,126 (GRCm39)	missense	probably damaging	1.00
R6340:Uso1	UTSW	5	92,347,711 (GRCm39)	missense	probably benign	0.01
R6701:Uso1	UTSW	5	92,314,444 (GRCm39)	missense	probably damaging	1.00
R6860:Uso1	UTSW	5	92,343,207 (GRCm39)	missense	probably benign	0.11
R7062:Uso1	UTSW	5	92,340,599 (GRCm39)	missense	possibly damaging	0.62
R7133:Uso1	UTSW	5	92,306,324 (GRCm39)	missense	probably benign	0.12
R7527:Uso1	UTSW	5	92,347,734 (GRCm39)	missense	possibly damaging	0.58
R7648:Uso1	UTSW	5	92,341,861 (GRCm39)	splice site	probably null
R7707:Uso1	UTSW	5	92,349,795 (GRCm39)	makesense	probably null
R8009:Uso1	UTSW	5	92,314,439 (GRCm39)	missense	probably benign	0.03
R8104:Uso1	UTSW	5	92,306,280 (GRCm39)	missense	probably damaging	0.99
R8361:Uso1	UTSW	5	92,337,121 (GRCm39)	missense	probably null	0.00
R8519:Uso1	UTSW	5	92,343,222 (GRCm39)	missense	probably benign
R9052:Uso1	UTSW	5	92,328,422 (GRCm39)	missense	probably damaging	1.00
R9142:Uso1	UTSW	5	92,335,125 (GRCm39)	nonsense	probably null
R9221:Uso1	UTSW	5	92,335,173 (GRCm39)	missense	probably benign	0.38
R9492:Uso1	UTSW	5	92,315,191 (GRCm39)	missense	possibly damaging	0.77
R9642:Uso1	UTSW	5	92,285,967 (GRCm39)	missense	probably damaging	1.00
Z1177:Uso1	UTSW	5	92,285,989 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ACAAGGTGGCAGCTCAGAAC -3'
(R):5'- CTGAAAACCCTGGGTTGAAAACTG -3'

Sequencing Primer
(F):5'- TGGCAGCTCAGAACAGGCTG -3'
(R):5'- CTGAAGCAATTTAACTTTTGTGGG -3'

Posted On

2019-06-26