Mutagenetix > Incidental Mutation

Incidental Mutation 'R9492:Uso1'

716987

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9492 (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 92315191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 185 (D185G)

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: D185G

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031355
Gene: ENSMUSG00000029407
AA Change: D185G

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: D185G

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144592
Gene: ENSMUSG00000029407
AA Change: D185G

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: 99.7%
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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	C	1: 120,078,472 (GRCm39)	K43T	probably damaging	Het
Abca12	A	G	1: 71,297,380 (GRCm39)	V2370A	possibly damaging	Het
Abca13	T	A	11: 9,243,667 (GRCm39)	C1843*	probably null	Het
Abr	C	T	11: 76,399,751 (GRCm39)	S82N	probably benign	Het
Acot2	T	C	12: 84,039,384 (GRCm39)	S298P	probably benign	Het
Acrbp	A	G	6: 125,038,062 (GRCm39)	D421G	probably benign	Het
Adam25	A	T	8: 41,206,736 (GRCm39)	M1L	probably benign	Het
Ano8	A	G	8: 71,934,784 (GRCm39)	V441A	possibly damaging	Het
Aoc1l1	T	C	6: 48,955,540 (GRCm39)	S717P	probably benign	Het
Atg2b	T	C	12: 105,624,549 (GRCm39)	H650R	probably benign	Het
Atp11a	C	T	8: 12,894,490 (GRCm39)	T695I	probably damaging	Het
AU018091	A	G	7: 3,214,023 (GRCm39)	S74P	probably benign	Het
Cadps2	A	G	6: 23,427,238 (GRCm39)	Y597H	probably benign	Het
Ccdc15	C	T	9: 37,215,665 (GRCm39)	E619K	probably damaging	Het
Ceacam11	G	T	7: 17,709,468 (GRCm39)	C222F	probably benign	Het
Cmya5	T	C	13: 93,177,822 (GRCm39)	*3677W	probably null	Het
Col11a1	G	C	3: 114,005,752 (GRCm39)	C1628S	probably benign	Het
Dhx8	T	C	11: 101,654,808 (GRCm39)	I1032T	possibly damaging	Het
Dpp10	T	C	1: 123,281,159 (GRCm39)	D630G	probably damaging	Het
Eci3	C	T	13: 35,143,976 (GRCm39)	G50R	probably benign	Het
Eif2a	A	G	3: 58,448,475 (GRCm39)	T103A	probably benign	Het
Frem1	T	C	4: 82,920,057 (GRCm39)	E432G	probably damaging	Het
Gdnf	C	T	15: 7,840,423 (GRCm39)		probably benign	Het
Hace1	T	A	10: 45,547,230 (GRCm39)	M471K	probably benign	Het
Hydin	A	G	8: 111,326,877 (GRCm39)	T4739A	possibly damaging	Het
Ilf2	A	G	3: 90,394,570 (GRCm39)	I320V	probably benign	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Klhl21	T	C	4: 152,093,419 (GRCm39)	L7S	probably benign	Het
Lrrc61	G	T	6: 48,545,761 (GRCm39)	E195*	probably null	Het
Maz	G	T	7: 126,622,292 (GRCm39)	A443E	possibly damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mtor	T	A	4: 148,568,801 (GRCm39)	L1107Q	probably damaging	Het
Nectin3	T	C	16: 46,215,511 (GRCm39)	H494R	probably benign	Het
Nlgn1	G	T	3: 25,488,480 (GRCm39)	Y618*	probably null	Het
Nup98	C	T	7: 101,778,252 (GRCm39)	E1372K	probably benign	Het
Or12e9	A	G	2: 87,201,960 (GRCm39)	N28S	probably benign	Het
Or5af1	T	C	11: 58,722,610 (GRCm39)	V210A	probably benign	Het
Otud6b	A	G	4: 14,818,349 (GRCm39)	I184T	probably damaging	Het
Pcsk6	A	G	7: 65,697,346 (GRCm39)	N891S	probably benign	Het
Pde4a	T	A	9: 21,106,096 (GRCm39)	L237Q	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pou3f1	A	G	4: 124,552,179 (GRCm39)	H227R	possibly damaging	Het
Prss53	G	A	7: 127,488,802 (GRCm39)	R31C	probably damaging	Het
Psmb8	T	A	17: 34,417,435 (GRCm39)	D21E	probably benign	Het
Ptprq	A	G	10: 107,478,813 (GRCm39)	Y1277H	probably damaging	Het
Rexo2	T	C	9: 48,380,176 (GRCm39)	T219A	probably benign	Het
Rfc3	A	G	5: 151,566,411 (GRCm39)	F346S	probably damaging	Het
Rhoq	A	T	17: 87,304,373 (GRCm39)	Q168L		Het
Sgk1	A	G	10: 21,874,096 (GRCm39)	N452S	probably damaging	Het
Slc35f3	A	G	8: 127,048,026 (GRCm39)	K122R	probably damaging	Het
Slc4a2	T	A	5: 24,644,761 (GRCm39)	M1021K	probably benign	Het
Sorcs2	A	G	5: 36,186,484 (GRCm39)	V886A	probably benign	Het
Spata20	T	A	11: 94,374,444 (GRCm39)	M308L	probably damaging	Het
Spen	A	T	4: 141,199,098 (GRCm39)	H3176Q	probably benign	Het
Stat5b	T	A	11: 100,692,361 (GRCm39)	H141L	probably benign	Het
Syne2	T	A	12: 75,995,839 (GRCm39)	H2126Q	possibly damaging	Het
Traj46	A	G	14: 54,409,851 (GRCm39)	T20A		Het
Trim30a	G	T	7: 104,078,330 (GRCm39)	Q249K	probably damaging	Het
Trmt13	A	G	3: 116,388,281 (GRCm39)	Y52H	probably benign	Het
Trpv3	A	G	11: 73,187,267 (GRCm39)	I700V	probably damaging	Het
Tyr	G	A	7: 87,121,704 (GRCm39)	H363Y	probably damaging	Het
Tyr	C	G	7: 87,121,705 (GRCm39)	M362I	possibly damaging	Het
Ubb	G	A	11: 62,442,984 (GRCm39)	V5M	probably damaging	Het
Unc5a	T	C	13: 55,150,288 (GRCm39)	L519P	probably damaging	Het
Vmn1r228	C	T	17: 20,996,862 (GRCm39)	E219K	probably damaging	Het
Wdr49	A	G	3: 75,240,669 (GRCm39)	V400A	probably damaging	Het
Zfp292	A	G	4: 34,810,794 (GRCm39)	M755T	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
R7317:Uso1	UTSW	5	92,321,851 (GRCm39)	missense	possibly damaging	0.70
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
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'- AAAGTAAGGGTCGCTGCCAG -3'
(R):5'- TGTCAACATTTCAGAAGACCATGG -3'

Sequencing Primer
(F):5'- CCAGGACTGAAGCAGTGACCTG -3'
(R):5'- TTTCAGAAGACCATGGAAGAAAGCC -3'

Posted On

2022-07-18