Mutagenetix > Incidental Mutations

Incidental Mutation 'R4552:Rrp1b'

334037

Institutional Source

Beutler Lab

Gene Symbol

Rrp1b

Ensembl Gene

ENSMUSG00000058392

Gene Name

ribosomal RNA processing 1 homolog B (S. cerevisiae)

Synonyms

MMRRC Submission

041783-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4552 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

32036100-32062865 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 32056010 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000080085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081339] [ENSMUST00000150469]

Predicted Effect

probably benign
Transcript: ENSMUST00000081339

SMART Domains

Protein: ENSMUSP00000080085
Gene: ENSMUSG00000058392

Domain	Start	End	E-Value	Type
Pfam:Nop52	10	218	3.3e-73	PFAM
low complexity region	344	352	N/A	INTRINSIC
low complexity region	376	384	N/A	INTRINSIC
low complexity region	450	463	N/A	INTRINSIC
low complexity region	483	496	N/A	INTRINSIC
low complexity region	694	706	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150469

SMART Domains

Protein: ENSMUSP00000117400
Gene: ENSMUSG00000058392

Domain	Start	End	E-Value	Type
low complexity region	96	107	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,779,518		probably benign	Het
Arhgap33	A	T	7: 30,519,108		probably benign	Het
Arid1a	A	C	4: 133,695,699		probably benign	Het
C4bp	A	G	1: 130,636,727	Y407H	possibly damaging	Het
Camta1	T	C	4: 151,792,502	R79G	probably damaging	Het
Caskin1	G	A	17: 24,506,628	S1296N	probably benign	Het
Cep128	T	C	12: 91,294,162	E309G	probably damaging	Het
Chit1	A	G	1: 134,144,051	T100A	probably benign	Het
Dalrd3	A	G	9: 108,572,230	D454G	possibly damaging	Het
Ddx19a	G	A	8: 110,978,566	Q308*	probably null	Het
Dmxl2	T	C	9: 54,451,763	N395S	probably damaging	Het
Dnah17	T	C	11: 118,052,943	D3125G	possibly damaging	Het
Dnah5	T	C	15: 28,397,154	V3331A	probably benign	Het
Dnah9	T	C	11: 65,841,366	E4238G	probably damaging	Het
Dner	T	C	1: 84,383,857	Y677C	probably damaging	Het
Epgn	A	T	5: 91,027,562	K14*	probably null	Het
Hid1	G	A	11: 115,358,679	T240M	possibly damaging	Het
Igbp1b	T	A	6: 138,658,114	M111L	probably benign	Het
Kif26b	T	A	1: 178,884,035	I740N	probably damaging	Het
Klk4	C	A	7: 43,884,019	H101N	probably benign	Het
Mrgpra2b	C	A	7: 47,464,006	S300I	probably benign	Het
Mtss1l	A	G	8: 110,738,505	T464A	probably damaging	Het
Nbas	T	C	12: 13,335,937		probably null	Het
Nif3l1	C	T	1: 58,449,324		probably benign	Het
Noct	T	A	3: 51,250,168	I309N	probably benign	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Odf2l	A	T	3: 145,151,083	T600S	probably benign	Het
Odf4	C	T	11: 68,922,040	S264N	probably benign	Het
Olfr1391	A	T	11: 49,327,950	M180L	probably benign	Het
Olfr24	A	G	9: 18,755,134	V167A	possibly damaging	Het
Olfr45	A	T	7: 140,691,742	Y279F	probably damaging	Het
Olfr815	T	C	10: 129,902,123	M196V	probably benign	Het
Papolb	T	C	5: 142,529,178	I237V	probably benign	Het
Parpbp	T	A	10: 88,093,702	Q428L	possibly damaging	Het
Pclo	T	C	5: 14,669,271	S1141P	unknown	Het
Plcb1	T	C	2: 135,335,493	S582P	probably benign	Het
Ppargc1a	C	T	5: 51,463,215		probably benign	Het
Ptchd4	A	T	17: 42,502,455	I416L	probably benign	Het
Rhpn1	G	A	15: 75,714,119	R627H	probably benign	Het
Ric8a	G	A	7: 140,861,337	G182S	probably damaging	Het
Rims1	T	C	1: 22,373,494	D895G	probably damaging	Het
Rtf1	T	A	2: 119,730,729	D636E	probably benign	Het
Scn3a	T	C	2: 65,524,179	D333G	probably benign	Het
Sema6a	A	G	18: 47,291,923	L207P	probably damaging	Het
Shcbp1	A	T	8: 4,749,779	Y160*	probably null	Het
Slc27a1	A	T	8: 71,580,066		probably null	Het
Ston2	C	T	12: 91,641,872	R818Q	probably damaging	Het
Tipin	T	A	9: 64,288,103		probably null	Het
Tjap1	A	T	17: 46,260,027		probably null	Het
Vmn1r117	A	T	7: 20,883,592	F177Y	probably damaging	Het
Vmn1r57	A	G	7: 5,220,668	D64G	possibly damaging	Het
Vmn2r73	T	A	7: 85,875,847	D31V	probably benign	Het
Vmn2r-ps41	A	T	7: 9,177,064		noncoding transcript	Het

Other mutations in Rrp1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Rrp1b	APN	17	32052819	missense	probably benign	0.09
IGL01383:Rrp1b	APN	17	32058578	missense	probably damaging	0.99
IGL02740:Rrp1b	APN	17	32059331	missense	probably damaging	1.00
IGL03030:Rrp1b	APN	17	32056901	missense	probably damaging	1.00
IGL03181:Rrp1b	APN	17	32057176	missense	probably benign	0.13
IGL03396:Rrp1b	APN	17	32057263	splice site	probably benign
IGL02980:Rrp1b	UTSW	17	32050039	missense	possibly damaging	0.49
R0138:Rrp1b	UTSW	17	32060452	missense	probably benign	0.24
R0394:Rrp1b	UTSW	17	32058564	missense	probably benign	0.34
R0681:Rrp1b	UTSW	17	32060395	missense	probably damaging	1.00
R1315:Rrp1b	UTSW	17	32056639	missense	probably benign	0.00
R1351:Rrp1b	UTSW	17	32056637	missense	possibly damaging	0.82
R1700:Rrp1b	UTSW	17	32057204	missense	probably benign	0.19
R1815:Rrp1b	UTSW	17	32056811	missense	probably benign
R1940:Rrp1b	UTSW	17	32056845	missense	possibly damaging	0.95
R2176:Rrp1b	UTSW	17	32056560	missense	probably benign	0.00
R2352:Rrp1b	UTSW	17	32059328	missense	possibly damaging	0.71
R2975:Rrp1b	UTSW	17	32058573	missense	probably damaging	1.00
R5114:Rrp1b	UTSW	17	32036471	utr 5 prime	probably benign
R5242:Rrp1b	UTSW	17	32051703	missense	possibly damaging	0.82
R5647:Rrp1b	UTSW	17	32056011	splice site	probably benign
R5739:Rrp1b	UTSW	17	32045976	missense	probably damaging	1.00
R5853:Rrp1b	UTSW	17	32056684	missense	possibly damaging	0.49
R5878:Rrp1b	UTSW	17	32047675	missense	probably damaging	1.00
R6389:Rrp1b	UTSW	17	32056627	missense	possibly damaging	0.55
R6734:Rrp1b	UTSW	17	32055304	intron	probably benign
R6742:Rrp1b	UTSW	17	32056934	missense	probably benign
R6759:Rrp1b	UTSW	17	32057089	missense	probably benign	0.01
R6855:Rrp1b	UTSW	17	32052745	missense	probably benign	0.00
R7014:Rrp1b	UTSW	17	32049427	missense	probably damaging	1.00
R7315:Rrp1b	UTSW	17	32058571	missense	probably benign	0.03
R7689:Rrp1b	UTSW	17	32055926	missense	probably benign	0.38
R7834:Rrp1b	UTSW	17	32051724	missense	probably benign	0.00
R7993:Rrp1b	UTSW	17	32058567	missense	probably damaging	0.98
R8272:Rrp1b	UTSW	17	32057189	missense	probably benign
R8371:Rrp1b	UTSW	17	32049484	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- GCAGGTGATGGAGCTAAGTC -3'
(R):5'- AGAACCAGGAGACCAGTGTC -3'

Sequencing Primer
(F):5'- CTAAGTCAGGCTCAGCAGTCTTAG -3'
(R):5'- CCAGTGTCTGCAGAGGAAATGAC -3'

Posted On

2015-08-18