Mutagenetix > Incidental Mutation

Incidental Mutation 'R6734:Rrp1b'

543621

Institutional Source

Beutler Lab

Gene Symbol

Rrp1b

Ensembl Gene

ENSMUSG00000058392

Gene Name

ribosomal RNA processing 1 homolog B (S. cerevisiae)

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6734 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32036100-32062865 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to G at 32055304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000080085 (fasta)

Gene Model

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

AlphaFold

Q91YK2

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

unknown
Transcript: ENSMUST00000150469
AA Change: C145G

SMART Domains

Protein: ENSMUSP00000117400
Gene: ENSMUSG00000058392
AA Change: C145G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	C	T	4: 106,760,130	G240R	probably damaging	Het
Ano6	A	G	15: 95,949,536	K554R	probably damaging	Het
Arhgef10	A	T	8: 14,975,053	I703F	probably damaging	Het
Bbs1	T	C	19: 4,903,896	S80G	probably benign	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Camk1	C	A	6: 113,334,384	R352L	probably benign	Het
Cand1	G	A	10: 119,211,992	P531L	possibly damaging	Het
Cnot2	G	A	10: 116,498,153	P371S	possibly damaging	Het
Col24a1	C	A	3: 145,508,674	P1384Q	probably benign	Het
Csmd2	C	A	4: 128,463,813	T1689K	probably benign	Het
Cyp26a1	T	A	19: 37,701,212	L452H	probably damaging	Het
Dcpp2	T	C	17: 23,900,571	Y120H	probably damaging	Het
Dennd6a	G	T	14: 26,608,619	R115L	possibly damaging	Het
Eml2	T	A	7: 19,200,507	V377E	probably benign	Het
Fam135b	T	C	15: 71,462,780	E855G	probably benign	Het
Fam149a	A	T	8: 45,381,441	I107K	probably benign	Het
Fam227b	A	T	2: 126,126,976	Y59*	probably null	Het
Fbn2	T	C	18: 58,035,960	E2249G	probably damaging	Het
Flrt1	T	C	19: 7,096,159	D341G	possibly damaging	Het
Galnt9	G	A	5: 110,620,599	R587H	probably damaging	Het
Gm10334	T	C	6: 41,445,387	Y28C	probably damaging	Het
Gsdma2	A	G	11: 98,649,590	T112A	possibly damaging	Het
Klhl24	T	C	16: 20,107,529	V269A	probably damaging	Het
Lcorl	A	G	5: 45,733,497	S505P	probably damaging	Het
Liph	A	G	16: 21,983,957	S121P	probably damaging	Het
Lrp4	G	A	2: 91,485,897	V787M	possibly damaging	Het
Lrrd1	A	C	5: 3,850,226	D177A	possibly damaging	Het
Mbd1	G	A	18: 74,276,043	R399H	probably damaging	Het
Naa25	C	T	5: 121,438,825	T879M	possibly damaging	Het
Naa35	T	G	13: 59,608,191	L147R	possibly damaging	Het
Ninl	C	A	2: 150,945,083		probably null	Het
Nrap	T	C	19: 56,345,509	D972G	probably damaging	Het
Olfr827	A	G	10: 130,210,257	F291S	probably benign	Het
Pdzd2	T	C	15: 12,592,465	E31G	probably damaging	Het
Plec	C	T	15: 76,194,403	E41K	probably damaging	Het
Plxnb1	A	T	9: 109,108,920	K1245*	probably null	Het
Ppfia1	T	C	7: 144,479,053	T1263A	probably damaging	Het
Prex2	G	A	1: 11,080,059	V152I	probably damaging	Het
Prpf40b	C	T	15: 99,314,903	R627W	probably damaging	Het
Prune2	T	G	19: 17,003,733	F85V	probably damaging	Het
Sec62	A	G	3: 30,810,460	T158A	probably benign	Het
Sema6a	G	A	18: 47,279,169	T526I	probably benign	Het
Shank1	G	T	7: 44,353,686	A1610S	probably benign	Het
Slc24a4	T	C	12: 102,219,000	V123A	probably damaging	Het
Stk11ip	T	C	1: 75,532,369	V714A	probably benign	Het
Tas1r3	T	C	4: 155,860,800	T655A	probably damaging	Het
Tns2	G	T	15: 102,103,116	L10F	probably damaging	Het
Trmt10c	A	G	16: 56,034,126	V382A	probably benign	Het
Unc45a	G	C	7: 80,336,998	T149R	probably damaging	Het
Zhx3	T	G	2: 160,781,720	I176L	probably damaging	Het
Zscan12	T	A	13: 21,368,796	C263*	probably null	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
R4552:Rrp1b	UTSW	17	32056010	splice site	probably benign
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
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
R8885:Rrp1b	UTSW	17	32051714	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TGTTCTCACCCAGTACACAC -3'
(R):5'- AACCAAGCTTTAACCATGCG -3'

Sequencing Primer
(F):5'- GTACACACCCCACCAAGG -3'
(R):5'- CAGATGTGGGCACTGACTAGATCTC -3'

Posted On

2019-04-04