Mutagenetix > Incidental Mutation

Incidental Mutation 'R7133:Uso1'

552811

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

045218-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92285797-92350657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92306324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 94 (E94K)

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: E94K

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000031355
Gene: ENSMUSG00000029407
AA Change: E94K

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: E94K

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144592
Gene: ENSMUSG00000029407
AA Change: E94K

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: 99.7%
20x: 99.0%

Validation Efficiency

98% (91/93)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 78,902,473 (GRCm39)	K614N	probably benign	Het
2610008E11Rik	T	G	10: 78,902,474 (GRCm39)	K614T	probably benign	Het
Ahsa1	T	A	12: 87,317,116 (GRCm39)	S120R	probably benign	Het
Anapc16	G	A	10: 59,832,302 (GRCm39)	T37I	possibly damaging	Het
Arid2	C	A	15: 96,276,756 (GRCm39)	P1606H	probably damaging	Het
Ash1l	TATCTCCTTTTCCAAAAA	TA	3: 88,890,764 (GRCm39)		probably null	Het
Asic1	T	A	15: 99,569,968 (GRCm39)	N96K	probably damaging	Het
Asph	A	T	4: 9,484,575 (GRCm39)	D582E	probably benign	Het
Astn1	A	G	1: 158,400,557 (GRCm39)	D528G	probably damaging	Het
Atp9b	A	G	18: 80,952,871 (GRCm39)	V164A		Het
Cbx6	C	T	15: 79,712,866 (GRCm39)	G187D	possibly damaging	Het
Cct7	A	G	6: 85,443,627 (GRCm39)	T332A	probably benign	Het
Clca4a	A	T	3: 144,667,651 (GRCm39)	L440*	probably null	Het
Crybg2	A	T	4: 133,792,754 (GRCm39)	I130F	probably benign	Het
Crybg3	T	C	16: 59,357,167 (GRCm39)	E798G	probably damaging	Het
Ctnnd2	A	G	15: 30,480,995 (GRCm39)	E81G	possibly damaging	Het
Cwc22	C	T	2: 77,759,822 (GRCm39)	R75H	possibly damaging	Het
Cym	T	G	3: 107,121,530 (GRCm39)	D254A	probably damaging	Het
Dcaf11	T	A	14: 55,806,383 (GRCm39)		probably null	Het
Dctn1	A	T	6: 83,157,026 (GRCm39)		probably null	Het
Dennd5a	C	T	7: 109,495,449 (GRCm39)		probably null	Het
Dmpk	T	A	7: 18,821,232 (GRCm39)	C217S	probably damaging	Het
Dnah1	C	A	14: 31,008,033 (GRCm39)	V2125L	probably benign	Het
Exoc4	G	A	6: 33,415,408 (GRCm39)	A427T	probably benign	Het
Farp2	G	T	1: 93,548,956 (GRCm39)	V1021F	probably damaging	Het
Flg2	T	C	3: 93,127,069 (GRCm39)	S1994P	unknown	Het
Fmnl1	T	C	11: 103,072,610 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,479,760 (GRCm39)	I1978F	possibly damaging	Het
Gan	T	A	8: 117,913,969 (GRCm39)	C122*	probably null	Het
Gpr25	T	A	1: 136,188,559 (GRCm39)	Y18F	probably damaging	Het
Hoxa7	C	T	6: 52,192,720 (GRCm39)	E223K	probably benign	Het
Hypk	A	G	2: 121,283,961 (GRCm39)		probably null	Het
Ibsp	A	T	5: 104,450,172 (GRCm39)	K27*	probably null	Het
Ighv6-5	T	A	12: 114,380,395 (GRCm39)	T41S	probably benign	Het
Ighv9-4	T	C	12: 114,263,757 (GRCm39)	M59V	probably benign	Het
Il17rb	T	C	14: 29,718,828 (GRCm39)	D418G	probably damaging	Het
Ints5	T	A	19: 8,872,923 (GRCm39)	V294E	probably damaging	Het
Irx6	G	A	8: 93,405,041 (GRCm39)	C303Y	probably damaging	Het
Itih3	T	A	14: 30,639,655 (GRCm39)	I389F	probably damaging	Het
Lama1	C	T	17: 68,089,141 (GRCm39)	T1604I		Het
Lama3	C	A	18: 12,672,843 (GRCm39)	Q873K	probably benign	Het
Lhx1	T	G	11: 84,410,746 (GRCm39)	S284R	probably benign	Het
Lrba	T	A	3: 86,302,238 (GRCm39)		probably null	Het
Lrg1	C	T	17: 56,427,592 (GRCm39)	G127R	possibly damaging	Het
Macir	G	A	1: 97,573,645 (GRCm39)	P140L	probably benign	Het
Mapre1	T	A	2: 153,606,883 (GRCm39)	L205H	probably benign	Het
Meltf	A	G	16: 31,711,617 (GRCm39)	N581S	probably damaging	Het
Mgat5	A	C	1: 127,292,926 (GRCm39)	M149L	probably benign	Het
Myh1	A	G	11: 67,093,412 (GRCm39)	T168A	probably benign	Het
Naalad2	C	T	9: 18,238,673 (GRCm39)	V681I	probably benign	Het
Or51e2	A	G	7: 102,391,524 (GRCm39)	S229P	probably damaging	Het
Or52r1c	T	A	7: 102,735,205 (GRCm39)	L155Q	probably damaging	Het
Pcnx2	T	C	8: 126,528,243 (GRCm39)	T1326A	probably benign	Het
Peg3	A	T	7: 6,711,944 (GRCm39)	C1093S	probably damaging	Het
Pidd1	T	C	7: 141,019,813 (GRCm39)	S650G	probably benign	Het
Pik3c2b	T	C	1: 133,017,972 (GRCm39)	S945P	possibly damaging	Het
Plec	T	C	15: 76,060,227 (GRCm39)	T3237A	possibly damaging	Het
Prpf3	A	T	3: 95,741,052 (GRCm39)		probably null	Het
Prpf4b	C	A	13: 35,085,477 (GRCm39)	H974Q	probably benign	Het
Ptpn3	T	C	4: 57,225,863 (GRCm39)	T451A	probably benign	Het
Ptprs	A	G	17: 56,724,429 (GRCm39)	Y1577H	probably damaging	Het
Rgr	C	T	14: 36,770,882 (GRCm39)	M1I	probably null	Het
Rxrg	A	T	1: 167,458,678 (GRCm39)	N257I	probably benign	Het
Sbno2	T	C	10: 79,922,146 (GRCm39)	D9G	probably damaging	Het
Scd1	T	C	19: 44,395,034 (GRCm39)	K64E	probably damaging	Het
Serpinb1a	T	A	13: 33,034,308 (GRCm39)	I28F	possibly damaging	Het
Sfmbt2	A	T	2: 10,406,818 (GRCm39)	E39V	probably damaging	Het
Slc29a1	A	G	17: 45,900,897 (GRCm39)	M89T	possibly damaging	Het
Slco4a1	T	A	2: 180,113,856 (GRCm39)	V431E	possibly damaging	Het
Smg1	C	T	7: 117,752,131 (GRCm39)	C2698Y	unknown	Het
Sptlc2	C	T	12: 87,397,151 (GRCm39)	D212N	probably benign	Het
St6galnac1	T	C	11: 116,657,899 (GRCm39)	T334A	possibly damaging	Het
Stim2	A	T	5: 54,156,263 (GRCm39)	D13V	possibly damaging	Het
Syne1	A	G	10: 5,181,592 (GRCm39)	W4248R	probably damaging	Het
Tanc1	T	C	2: 59,627,953 (GRCm39)	Y584H	probably benign	Het
Thoc6	C	A	17: 23,892,634 (GRCm39)		probably null	Het
Trim30a	T	A	7: 104,078,533 (GRCm39)	N181I	possibly damaging	Het
Trip11	T	A	12: 101,850,329 (GRCm39)	Q1245L	probably damaging	Het
Tshz3	A	G	7: 36,469,994 (GRCm39)	D661G	probably benign	Het
Ttll8	C	A	15: 88,799,630 (GRCm39)	V604L	probably damaging	Het
Ubtfl1	A	G	9: 18,320,931 (GRCm39)	D153G	probably damaging	Het
Ufsp2	C	A	8: 46,436,661 (GRCm39)	N137K	probably benign	Het
Ugt2a3	A	G	5: 87,473,393 (GRCm39)	I508T	possibly damaging	Het
Usp54	A	G	14: 20,611,310 (GRCm39)	S1169P	probably benign	Het
Vmn1r235	C	T	17: 21,482,292 (GRCm39)	P206S	probably benign	Het
Vmn1r69	T	C	7: 10,314,995 (GRCm39)		probably benign	Het
Zfp263	T	A	16: 3,567,255 (GRCm39)	C523*	probably null	Het
Zfp799	G	T	17: 33,039,210 (GRCm39)	T352K	probably benign	Het
Zfr	T	A	15: 12,180,724 (GRCm39)	V951E	probably damaging	Het
Zfyve26	T	C	12: 79,330,926 (GRCm39)	D431G	probably benign	Het
Zswim9	C	A	7: 12,993,664 (GRCm39)	A831S	probably damaging	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
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
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'- CCGGGCTTTGCTAATACTTTCTTAG -3'
(R):5'- ACAGTGAGCAATCGTCCTGG -3'

Sequencing Primer
(F):5'- AGTTTGAACTCCAGCCA -3'
(R):5'- CAGCATTCAGGACTAAAGTTAGAGC -3'

Posted On

2019-05-15