Mutagenetix > Incidental Mutation

Incidental Mutation 'R7292:Rpn1'

566484

Institutional Source

Beutler Lab

Gene Symbol

Rpn1

Ensembl Gene

ENSMUSG00000030062

Gene Name

ribophorin I

Synonyms

D6Wsu137e, Rpn-1

MMRRC Submission

045397-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R7292 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88061464-88082286 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88067066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 142 (P142L)

Ref Sequence

ENSEMBL: ENSMUSP00000032143 (fasta)

Gene Model

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

AlphaFold

Q91YQ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000032143
AA Change: P142L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032143
Gene: ENSMUSG00000030062
AA Change: P142L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204838

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,215,861 (GRCm39)	C322*	probably null	Het
4930553M12Rik	G	A	4: 88,786,568 (GRCm39)	R17C	unknown	Het
Abcc8	G	A	7: 45,784,950 (GRCm39)	T726I	probably benign	Het
Adamts18	T	C	8: 114,436,277 (GRCm39)	T981A	probably benign	Het
Adgrb3	A	G	1: 25,570,957 (GRCm39)	C507R	probably damaging	Het
Bloc1s6	T	A	2: 122,584,615 (GRCm39)	D63E	probably damaging	Het
Cdc25b	C	T	2: 131,033,093 (GRCm39)	R135W	probably damaging	Het
Cdca2	G	T	14: 67,915,326 (GRCm39)	Y644*	probably null	Het
Ceacam10	G	T	7: 24,477,775 (GRCm39)	G97C	probably damaging	Het
Cenpf	G	A	1: 189,382,891 (GRCm39)	L2668F	probably damaging	Het
Cog4	A	G	8: 111,608,460 (GRCm39)	D774G	probably damaging	Het
Col11a2	G	A	17: 34,270,482 (GRCm39)	G511E	unknown	Het
Col19a1	T	A	1: 24,569,089 (GRCm39)	I220F	unknown	Het
Cubn	G	T	2: 13,429,550 (GRCm39)	T1317K	probably damaging	Het
Dnaaf5	T	C	5: 139,136,072 (GRCm39)	L24P	unknown	Het
Eif4a3l2	G	A	6: 116,528,438 (GRCm39)	R105Q	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Foxn4	C	A	5: 114,396,716 (GRCm39)	E256*	probably null	Het
Gm5930	A	G	14: 44,574,014 (GRCm39)	S108P	probably damaging	Het
Gnl3	A	G	14: 30,735,189 (GRCm39)	S468P	probably benign	Het
Gzmb	A	T	14: 56,499,576 (GRCm39)	S11T	probably benign	Het
Hmcn1	T	C	1: 150,608,880 (GRCm39)		probably null	Het
Ifi206	A	G	1: 173,301,428 (GRCm39)	L750P	unknown	Het
Ifi213	T	A	1: 173,422,691 (GRCm39)	E58V	probably damaging	Het
Igkv4-78	A	T	6: 69,036,752 (GRCm39)	Y94N	probably damaging	Het
Igsf9	G	T	1: 172,319,324 (GRCm39)		probably null	Het
Itpr2	G	T	6: 146,060,447 (GRCm39)	L2490M	possibly damaging	Het
Kdm2b	A	G	5: 123,018,854 (GRCm39)	F862S	probably damaging	Het
Kif19b	A	G	5: 140,457,425 (GRCm39)	D398G	probably benign	Het
Meis1	A	G	11: 18,961,351 (GRCm39)	I174T	probably damaging	Het
Micu3	A	G	8: 40,835,166 (GRCm39)	Q507R	probably benign	Het
Mpp4	C	T	1: 59,182,969 (GRCm39)	E313K	possibly damaging	Het
Nfatc4	G	A	14: 56,062,512 (GRCm39)	E7K	probably damaging	Het
Or7g16	A	T	9: 18,727,486 (GRCm39)	Y35N	probably damaging	Het
Or9s18	T	A	13: 65,300,656 (GRCm39)	V206D	possibly damaging	Het
Osbpl5	G	A	7: 143,255,015 (GRCm39)	P470S	probably damaging	Het
Pak6	A	G	2: 118,524,072 (GRCm39)	D409G	possibly damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Pkhd1l1	T	A	15: 44,361,986 (GRCm39)	M553K	probably benign	Het
Ppp2r3d	T	C	9: 101,089,871 (GRCm39)	N151D	probably damaging	Het
Prdm12	T	C	2: 31,533,862 (GRCm39)	W160R	probably damaging	Het
Prdm2	G	A	4: 142,859,471 (GRCm39)	T1273M	possibly damaging	Het
Prl2a1	A	G	13: 27,991,353 (GRCm39)		probably null	Het
Prob1	G	A	18: 35,787,603 (GRCm39)	P217L	possibly damaging	Het
Ramp1	A	C	1: 91,124,499 (GRCm39)	H20P	probably benign	Het
Rbm47	T	A	5: 66,184,093 (GRCm39)	E170V	possibly damaging	Het
Relch	G	T	1: 105,649,141 (GRCm39)		probably null	Het
Rsu1	C	T	2: 13,174,827 (GRCm39)	R238H	probably damaging	Het
Sh3rf3	C	T	10: 58,907,795 (GRCm39)	P441L	probably damaging	Het
Slc1a6	A	G	10: 78,650,438 (GRCm39)	S559G	possibly damaging	Het
Slc35f5	C	A	1: 125,500,222 (GRCm39)	S245R	probably damaging	Het
Spcs3	T	C	8: 54,979,554 (GRCm39)	N76D	probably benign	Het
Spmip5	A	T	19: 58,777,539 (GRCm39)	Y90*	probably null	Het
Svep1	T	C	4: 58,111,395 (GRCm39)	T1075A	possibly damaging	Het
Sympk	A	T	7: 18,769,955 (GRCm39)	I211F	probably benign	Het
Tk1	C	T	11: 117,716,603 (GRCm39)	M1I	probably null	Het
Tln2	A	G	9: 67,253,743 (GRCm39)	V776A	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tnk2	T	C	16: 32,499,618 (GRCm39)	V977A	probably benign	Het
Toporsl	A	T	4: 52,611,630 (GRCm39)	S508C	probably benign	Het
Trank1	A	C	9: 111,206,938 (GRCm39)	R1690S	probably benign	Het
Trio	T	A	15: 27,828,437 (GRCm39)	Q1409L	possibly damaging	Het
Vit	T	C	17: 78,912,927 (GRCm39)	F287L	probably benign	Het
Vmn2r109	G	C	17: 20,761,700 (GRCm39)	D552E	probably benign	Het
Zw10	T	C	9: 48,972,491 (GRCm39)	V186A	probably benign	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
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
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'- GAGCATCTGGACATCTGTCTTTAAAG -3'
(R):5'- AGGCCCATAATCAAGGACGTC -3'

Sequencing Primer
(F):5'- TGCTGGCTTAGAACTCACAG -3'
(R):5'- TCCTCAGATCTCGAGGGGTTC -3'

Posted On

2019-06-26