Mutagenetix > Incidental Mutation

Incidental Mutation 'R0101:Rpn1'

33195

Institutional Source

Beutler Lab

Gene Symbol

Rpn1

Ensembl Gene

ENSMUSG00000030062

Gene Name

ribophorin I

Synonyms

D6Wsu137e, Rpn-1

MMRRC Submission

038387-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R0101 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

88061464-88082286 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88070769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 213 (D213G)

Ref Sequence

ENSEMBL: ENSMUSP00000032143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032143]

AlphaFold

Q91YQ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032143
AA Change: D213G

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032143
Gene: ENSMUSG00000030062
AA Change: D213G

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Ribophorin_I	32	458	4.2e-149	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203813

Predicted Effect

probably benign
Transcript: ENSMUST00000204838

Meta Mutation Damage Score

0.5989

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein forms part of the regulatory subunit of the 26S proteasome and may mediate binding of ubiquitin-like domains to this proteasome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,901,739 (GRCm39)	D829N	probably benign	Het
B3galnt1	A	G	3: 69,483,139 (GRCm39)	Y41H	probably benign	Het
Carmil3	A	C	14: 55,735,212 (GRCm39)		probably benign	Het
Cdh17	A	G	4: 11,771,341 (GRCm39)	Q41R	probably benign	Het
Cep43	A	T	17: 8,388,374 (GRCm39)	S76C	possibly damaging	Het
Chrm2	G	T	6: 36,501,430 (GRCm39)	C429F	probably damaging	Het
Cplane1	T	A	15: 8,250,444 (GRCm39)	C1844S	probably benign	Het
Cyld	T	A	8: 89,444,928 (GRCm39)		probably null	Het
Cyp2d11	C	A	15: 82,274,395 (GRCm39)		probably benign	Het
Dnah1	A	G	14: 31,005,856 (GRCm39)	Y2308H	probably damaging	Het
Dnajc27	T	C	12: 4,139,142 (GRCm39)	V60A	probably benign	Het
Dnmbp	A	G	19: 43,862,599 (GRCm39)	V850A	possibly damaging	Het
Emcn	A	T	3: 137,047,001 (GRCm39)	M1L	possibly damaging	Het
Epc1	A	T	18: 6,462,998 (GRCm39)		probably benign	Het
Fbxo21	T	C	5: 118,133,521 (GRCm39)	L310P	probably damaging	Het
Filip1	A	G	9: 79,726,810 (GRCm39)	I603T	probably benign	Het
Fndc3b	A	G	3: 27,512,957 (GRCm39)	V723A	probably damaging	Het
Gemin5	G	A	11: 58,036,322 (GRCm39)	P674S	probably damaging	Het
Gsk3a	T	C	7: 24,928,328 (GRCm39)	D471G	probably benign	Het
Igbp1b	G	A	6: 138,634,658 (GRCm39)	P262L	probably damaging	Het
Itga11	T	C	9: 62,651,768 (GRCm39)	L300S	probably damaging	Het
Itsn2	T	C	12: 4,683,058 (GRCm39)		probably benign	Het
Lhcgr	A	G	17: 89,072,598 (GRCm39)	S150P	probably damaging	Het
Man1a	T	C	10: 53,951,120 (GRCm39)	M1V	probably null	Het
Mical2	C	T	7: 111,936,074 (GRCm39)	R892C	possibly damaging	Het
Mtus2	T	C	5: 148,019,845 (GRCm39)	S747P	probably damaging	Het
Mug1	A	G	6: 121,861,206 (GRCm39)	K1276E	possibly damaging	Het
Or1n1b	A	G	2: 36,780,138 (GRCm39)	S241P	probably damaging	Het
Pfkfb4	C	G	9: 108,839,711 (GRCm39)	P260R	probably benign	Het
Prkca	A	T	11: 107,948,626 (GRCm39)	L121Q	probably damaging	Het
Prpf40b	T	C	15: 99,204,681 (GRCm39)		probably benign	Het
Ripor2	T	C	13: 24,864,615 (GRCm39)	M215T	probably damaging	Het
Rreb1	C	A	13: 38,115,518 (GRCm39)	P959Q	probably benign	Het
Sema5b	T	C	16: 35,483,472 (GRCm39)		probably benign	Het
Slc38a10	A	G	11: 120,041,903 (GRCm39)	M1T	probably null	Het
Slco1c1	G	T	6: 141,477,236 (GRCm39)	L11F	probably damaging	Het
Spef2	T	C	15: 9,713,194 (GRCm39)	T393A	probably damaging	Het
Srp54b	A	G	12: 55,302,405 (GRCm39)		probably benign	Het
St14	G	T	9: 31,008,403 (GRCm39)	N512K	probably benign	Het
Syce1l	T	A	8: 114,382,061 (GRCm39)	S237T	probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tamm41	A	T	6: 115,009,207 (GRCm39)	Y129N	probably damaging	Het
Tctn2	T	C	5: 124,753,357 (GRCm39)		noncoding transcript	Het
Tpr	T	C	1: 150,285,053 (GRCm39)		probably benign	Het
Vsig10	T	A	5: 117,473,134 (GRCm39)		probably null	Het
Zfp335	T	C	2: 164,741,910 (GRCm39)	K635R	probably damaging	Het
Zfp541	A	G	7: 15,811,968 (GRCm39)	Y207C	probably damaging	Het

Other mutations in Rpn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Rpn1	APN	6	88,072,611 (GRCm39)	missense	probably damaging	0.97
IGL02614:Rpn1	APN	6	88,079,087 (GRCm39)	missense	probably benign	0.03
R0101:Rpn1	UTSW	6	88,070,769 (GRCm39)	missense	possibly damaging	0.96
R0505:Rpn1	UTSW	6	88,067,224 (GRCm39)	missense	probably benign	0.01
R1655:Rpn1	UTSW	6	88,077,926 (GRCm39)	missense	possibly damaging	0.78
R1933:Rpn1	UTSW	6	88,070,841 (GRCm39)	missense	probably damaging	1.00
R1934:Rpn1	UTSW	6	88,070,841 (GRCm39)	missense	probably damaging	1.00
R1968:Rpn1	UTSW	6	88,072,530 (GRCm39)	missense	possibly damaging	0.87
R2020:Rpn1	UTSW	6	88,072,665 (GRCm39)	missense	probably damaging	1.00
R2074:Rpn1	UTSW	6	88,077,944 (GRCm39)	missense	probably damaging	1.00
R3237:Rpn1	UTSW	6	88,080,396 (GRCm39)	missense	probably benign	0.00
R3722:Rpn1	UTSW	6	88,067,282 (GRCm39)	splice site	probably null
R4837:Rpn1	UTSW	6	88,067,187 (GRCm39)	missense	probably benign	0.10
R5546:Rpn1	UTSW	6	88,070,841 (GRCm39)	missense	probably damaging	1.00
R6989:Rpn1	UTSW	6	88,076,285 (GRCm39)	missense	probably benign	0.02
R7292:Rpn1	UTSW	6	88,067,066 (GRCm39)	missense	probably damaging	1.00
R7296:Rpn1	UTSW	6	88,061,619 (GRCm39)	missense	possibly damaging	0.46
R7623:Rpn1	UTSW	6	88,061,550 (GRCm39)	missense	possibly damaging	0.96
R7816:Rpn1	UTSW	6	88,080,378 (GRCm39)	missense	possibly damaging	0.87
R7960:Rpn1	UTSW	6	88,079,068 (GRCm39)	missense	probably damaging	1.00
R8553:Rpn1	UTSW	6	88,072,539 (GRCm39)	missense	probably damaging	0.98
R8696:Rpn1	UTSW	6	88,080,359 (GRCm39)	missense	possibly damaging	0.68
R8831:Rpn1	UTSW	6	88,061,775 (GRCm39)	missense	probably benign	0.01
R9572:Rpn1	UTSW	6	88,078,994 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCATTCACCAGTCAGTGTCAGGAAG -3'
(R):5'- AGTCACAGTTCCCACAGTGAACAAG -3'

Sequencing Primer
(F):5'- cccacacacaaggcacac -3'
(R):5'- ATGGAGGAGATCCCACTGTC -3'

Posted On

2013-05-09