Mutagenetix > Incidental Mutation

Incidental Mutation 'R8519:Uso1'

658520

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

067946-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8519 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92285797-92350657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 92343222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 769 (S769A)

Ref Sequence

ENSEMBL: ENSMUSP00000031355 (fasta)

Gene Model

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

AlphaFold

Q9Z1Z0

Predicted Effect

probably benign
Transcript: ENSMUST00000031355
AA Change: S769A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031355
Gene: ENSMUSG00000029407
AA Change: S769A

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

SMART Domains

Protein: ENSMUSP00000144592
Gene: ENSMUSG00000029407

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	T	C	10: 61,038,619 (GRCm39)	T964A	possibly damaging	Het
Adamts7	G	A	9: 90,075,610 (GRCm39)	W1156*	probably null	Het
Adcy9	T	C	16: 4,105,992 (GRCm39)	I1041V	possibly damaging	Het
Armh4	T	C	14: 50,010,693 (GRCm39)	D338G	probably damaging	Het
Art4	C	A	6: 136,831,349 (GRCm39)		probably null	Het
Bcl9	A	G	3: 97,116,334 (GRCm39)	S787P	probably benign	Het
Bptf	T	C	11: 106,952,590 (GRCm39)	T2088A	probably damaging	Het
Cdc45	T	C	16: 18,627,597 (GRCm39)	N76S	probably damaging	Het
Cdon	A	G	9: 35,389,950 (GRCm39)	D868G	probably damaging	Het
Cldn10	T	G	14: 119,092,439 (GRCm39)	V13G	probably benign	Het
Cnot6	G	T	11: 49,575,941 (GRCm39)	Q178K	probably benign	Het
Crot	T	C	5: 9,023,629 (GRCm39)	I420V	probably benign	Het
Csgalnact1	T	A	8: 68,854,105 (GRCm39)	H232L	possibly damaging	Het
Cuzd1	T	C	7: 130,910,626 (GRCm39)	I556M	possibly damaging	Het
Cyp2c54	G	A	19: 40,026,857 (GRCm39)	R433W	probably damaging	Het
Cyp2j11	A	G	4: 96,207,539 (GRCm39)	F259L	probably benign	Het
Dhx9	C	T	1: 153,348,922 (GRCm39)	G264R	probably damaging	Het
Dnah5	G	A	15: 28,299,245 (GRCm39)	V1536M	probably benign	Het
Erlin1	T	A	19: 44,058,041 (GRCm39)		probably benign	Het
Foxb2	C	A	19: 16,850,347 (GRCm39)	V220L	possibly damaging	Het
Gigyf2	A	T	1: 87,338,431 (GRCm39)	T388S	probably benign	Het
Gimap5	T	C	6: 48,730,068 (GRCm39)	C213R	probably benign	Het
Gkap1	T	G	13: 58,386,506 (GRCm39)	K57N	probably damaging	Het
H60b	T	G	10: 22,159,421 (GRCm39)		probably benign	Het
Hectd4	C	T	5: 121,442,489 (GRCm39)	R670*	probably null	Het
Hoxc9	A	G	15: 102,892,341 (GRCm39)	N185D	probably damaging	Het
Igkv1-117	A	G	6: 68,098,766 (GRCm39)	E105G	possibly damaging	Het
Klk10	T	A	7: 43,432,239 (GRCm39)	Y57*	probably null	Het
Lrrc63	A	T	14: 75,363,312 (GRCm39)	I273K	possibly damaging	Het
M6pr	T	C	6: 122,292,025 (GRCm39)	I119T	probably damaging	Het
Mael	T	C	1: 166,063,127 (GRCm39)		probably null	Het
Magi1	A	G	6: 93,681,330 (GRCm39)	S574P	possibly damaging	Het
Man2c1	A	G	9: 57,044,061 (GRCm39)	D291G	probably benign	Het
Mapk1ip1l	A	T	14: 47,547,920 (GRCm39)		probably benign	Het
Mrc2	A	G	11: 105,238,132 (GRCm39)	T1135A	possibly damaging	Het
Mrpl39	A	G	16: 84,527,736 (GRCm39)	V164A	probably benign	Het
Mynn	C	A	3: 30,661,290 (GRCm39)	P124H	probably damaging	Het
Or11l3	T	G	11: 58,516,800 (GRCm39)	Q23P	probably damaging	Het
Or14n1-ps1	A	T	7: 86,093,062 (GRCm39)	N291I	probably damaging	Het
Or2k2	A	G	4: 58,785,203 (GRCm39)	I173T	probably damaging	Het
Or2t48	A	G	11: 58,420,329 (GRCm39)	F161S	possibly damaging	Het
Or6k2	A	G	1: 173,986,614 (GRCm39)	I92V	probably damaging	Het
Pcif1	A	G	2: 164,726,303 (GRCm39)	N68S	probably damaging	Het
Pcm1	T	A	8: 41,728,976 (GRCm39)	N649K	probably damaging	Het
Pira1	T	C	7: 3,740,432 (GRCm39)	Q263R	probably benign	Het
Plxna2	T	A	1: 194,476,266 (GRCm39)	I1162N	probably damaging	Het
Pnp2	T	A	14: 51,201,842 (GRCm39)	L276Q	probably damaging	Het
Sirpb1c	T	A	3: 15,902,526 (GRCm39)	I18F	possibly damaging	Het
Slc2a12	A	T	10: 22,540,678 (GRCm39)	M178L	probably damaging	Het
Slc35c1	G	T	2: 92,285,052 (GRCm39)	F187L	probably benign	Het
Smg1	T	C	7: 117,770,982 (GRCm39)		probably benign	Het
Spmip6	A	G	4: 41,505,071 (GRCm39)	S214P	possibly damaging	Het
Spopfm2	T	C	3: 94,083,497 (GRCm39)	M105V	probably benign	Het
Stn1	T	C	19: 47,490,111 (GRCm39)	H342R	probably benign	Het
Sult1c2	A	T	17: 54,276,709 (GRCm39)	H117Q	probably damaging	Het
Thap1	G	A	8: 26,650,925 (GRCm39)	R42K	probably damaging	Het
Tpp2	A	T	1: 44,016,365 (GRCm39)		probably null	Het
Trib2	G	T	12: 15,865,347 (GRCm39)	P76Q	probably damaging	Het
Ttc24	G	T	3: 87,980,369 (GRCm39)	Q111K	probably damaging	Het
Ubr4	T	C	4: 139,143,958 (GRCm39)	S1401P	probably damaging	Het
Uggt1	A	C	1: 36,215,724 (GRCm39)		probably null	Het
Ugt2b1	A	G	5: 87,074,326 (GRCm39)	L11S	probably damaging	Het
Vmn2r117	T	C	17: 23,698,442 (GRCm39)	T44A	probably benign	Het
Vmn2r28	T	A	7: 5,489,347 (GRCm39)	L497F	probably benign	Het
Vsig10l	G	A	7: 43,114,326 (GRCm39)	S318N	probably benign	Het
Wbp4	A	G	14: 79,714,263 (GRCm39)	L83P	probably damaging	Het
Wnk1	G	A	6: 119,927,044 (GRCm39)	R1510W	probably damaging	Het
Zc3hav1l	C	T	6: 38,272,176 (GRCm39)	V198M	probably damaging	Het
Zfp1004	A	G	2: 150,034,700 (GRCm39)	I340M	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
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'- TCTGAGTGTAACTTCTGAGGC -3'
(R):5'- CTGTCAAGTAAACACAGCTTCTAG -3'

Sequencing Primer
(F):5'- AACTTCTGAGGCTGTGGAGAGC -3'
(R):5'- CACAGCTTCTAGGTTTTTCAAAGC -3'

Posted On

2021-01-18