Mutagenetix > Incidental Mutation

Incidental Mutation 'R3237:Rpn1'

259088

Institutional Source

Beutler Lab

Gene Symbol

Rpn1

Ensembl Gene

ENSMUSG00000030062

Gene Name

ribophorin I

Synonyms

D6Wsu137e, Rpn-1

MMRRC Submission

040619-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R3237 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88061464-88082286 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88080396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 565 (K565R)

Ref Sequence

ENSEMBL: ENSMUSP00000032143 (fasta)

Gene Model

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

AlphaFold

Q91YQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000032143
AA Change: K565R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000032143
Gene: ENSMUSG00000030062
AA Change: K565R

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: ENSMUST00000185149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204024

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204164

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Aff2	T	A	X: 68,907,543 (GRCm39)	V1175E	possibly damaging	Het
Agbl3	A	G	6: 34,800,022 (GRCm39)		probably null	Het
Bcar3	C	A	3: 122,318,645 (GRCm39)	Q678K	probably benign	Het
Ccm2	G	A	11: 6,520,090 (GRCm39)	V53I	probably benign	Het
Cd3e	G	T	9: 44,913,608 (GRCm39)	C42*	probably null	Het
Cd4	A	T	6: 124,844,633 (GRCm39)	I384N	probably benign	Het
Ceacam11	T	A	7: 17,707,379 (GRCm39)	F54L	probably benign	Het
Cfap46	A	G	7: 139,197,506 (GRCm39)	S2122P	probably damaging	Het
Clptm1	A	G	7: 19,369,271 (GRCm39)	S461P	probably damaging	Het
Dlat	T	C	9: 50,549,331 (GRCm39)	T518A	possibly damaging	Het
Dnah17	T	C	11: 117,985,680 (GRCm39)	T1466A	probably benign	Het
Dnah9	G	A	11: 65,845,815 (GRCm39)	T3023I	probably benign	Het
Fam181a	T	G	12: 103,282,348 (GRCm39)	C84W	possibly damaging	Het
Gask1a	C	T	9: 121,793,935 (GRCm39)	P30S	possibly damaging	Het
H2-Q6	C	A	17: 35,644,676 (GRCm39)	T155K	probably damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Inpp5b	A	G	4: 124,674,279 (GRCm39)	R329G	probably benign	Het
Klrb1f	A	T	6: 129,031,306 (GRCm39)	I168L	possibly damaging	Het
Lama4	A	T	10: 38,973,175 (GRCm39)	I1581F	probably damaging	Het
Lipn	A	G	19: 34,046,138 (GRCm39)	N37S	probably benign	Het
Lyzl4	T	C	9: 121,413,233 (GRCm39)	D65G	probably benign	Het
Med29	A	G	7: 28,092,046 (GRCm39)		probably benign	Het
Myrip	C	A	9: 120,270,473 (GRCm39)	D574E	possibly damaging	Het
N4bp3	A	T	11: 51,536,761 (GRCm39)	F104Y	probably damaging	Het
Nlrp9a	A	T	7: 26,270,810 (GRCm39)	K892*	probably null	Het
Nsd1	T	A	13: 55,460,701 (GRCm39)	H2309Q	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Optn	T	C	2: 5,039,014 (GRCm39)	S370G	probably damaging	Het
Pbrm1	T	C	14: 30,754,432 (GRCm39)	F151L	probably damaging	Het
Plekhs1	A	T	19: 56,453,032 (GRCm39)		probably null	Het
Rrh	T	C	3: 129,605,360 (GRCm39)	Y110C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr1	C	T	7: 28,769,075 (GRCm39)		probably null	Het
Scai	C	T	2: 39,040,326 (GRCm39)		probably benign	Het
Scap	C	G	9: 110,208,650 (GRCm39)	P564A	probably damaging	Het
Setdb1	A	G	3: 95,246,065 (GRCm39)	V619A	probably damaging	Het
Slc41a3	T	C	6: 90,613,847 (GRCm39)	Y226H	probably benign	Het
Slf2	A	G	19: 44,930,773 (GRCm39)	I617V	probably benign	Het
Sned1	G	A	1: 93,186,725 (GRCm39)	R180Q	probably benign	Het
Spata22	T	A	11: 73,236,713 (GRCm39)	F340I	probably damaging	Het
St8sia3	T	C	18: 64,402,886 (GRCm39)	F175S	probably damaging	Het
Supt20	T	C	3: 54,616,501 (GRCm39)	S253P	possibly damaging	Het
Syngap1	T	A	17: 27,176,067 (GRCm39)	Y118*	probably null	Het
Szt2	A	C	4: 118,240,231 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Uba3	G	T	6: 97,163,201 (GRCm39)	T319K	probably damaging	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Zc3hav1	A	G	6: 38,296,650 (GRCm39)	L751S	probably damaging	Het
Zfp804b	T	C	5: 6,819,239 (GRCm39)	M1275V	probably benign	Het
Zgrf1	A	G	3: 127,407,024 (GRCm39)	D1597G	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
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
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'- GGCAGTTTTCCTACTTGCCAG -3'
(R):5'- TCCAATGCCACTGGAAGTC -3'

Sequencing Primer
(F):5'- CCATAGGCGCTACTTTTGCTGAG -3'
(R):5'- CAATGCCACTGGAAGTCTAGGC -3'

Posted On

2015-01-23