Mutagenetix > Incidental Mutation

Incidental Mutation 'R7014:Rrp1b'

545224

Institutional Source

Beutler Lab

Gene Symbol

Rrp1b

Ensembl Gene

ENSMUSG00000058392

Gene Name

ribosomal RNA processing 1 homolog B (S. cerevisiae)

Synonyms

MMRRC Submission

045115-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7014 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32036100-32062865 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32049427 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 120 (L120Q)

Ref Sequence

ENSEMBL: ENSMUSP00000080085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081339] [ENSMUST00000151808]

AlphaFold

Q91YK2

Predicted Effect

probably damaging
Transcript: ENSMUST00000081339
AA Change: L120Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080085
Gene: ENSMUSG00000058392
AA Change: L120Q

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

probably benign
Transcript: ENSMUST00000151808

SMART Domains

Protein: ENSMUSP00000123044
Gene: ENSMUSG00000058392

Domain	Start	End	E-Value	Type
Pfam:Nop52	8	77	1.9e-25	PFAM

Meta Mutation Damage Score

0.9478

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,578,773	Q156*	probably null	Het
2700097O09Rik	A	G	12: 55,045,942	I264T	probably benign	Het
Arid3a	G	T	10: 79,950,884	M488I	possibly damaging	Het
Auts2	A	G	5: 131,466,123	F331S	probably damaging	Het
Axdnd1	T	C	1: 156,330,962		probably null	Het
Bpifb5	C	A	2: 154,224,956	S43*	probably null	Het
Carhsp1	A	G	16: 8,661,005	V128A	probably benign	Het
Ccdc141	A	G	2: 77,132,297	V101A	probably damaging	Het
Cdk6	C	G	5: 3,473,152	L191V	probably damaging	Het
Cgnl1	T	G	9: 71,725,134	K312Q	possibly damaging	Het
Col6a1	T	C	10: 76,721,443	E225G	probably damaging	Het
Copg1	T	A	6: 87,902,340	L456Q	probably damaging	Het
Ctif	T	A	18: 75,437,208	D540V	possibly damaging	Het
Cyfip1	T	C	7: 55,919,493	I917T	probably benign	Het
Cyth1	T	C	11: 118,212,651	D9G	probably benign	Het
Dnajb1	T	C	8: 83,610,255	I118T	probably damaging	Het
Ebna1bp2	T	A	4: 118,623,378	Y139*	probably null	Het
Fam162a	A	T	16: 36,049,932	V59E	probably damaging	Het
Fam213a	T	C	14: 41,002,494	E71G	probably benign	Het
Fhad1	CGG	CG	4: 141,918,291		probably null	Het
Fmo6	C	G	1: 162,926,308	R112T	probably benign	Het
Gm11639	A	G	11: 104,693,422	T100A	probably benign	Het
Gm17087	T	A	17: 8,566,472	D133V	probably benign	Het
Gm17689	C	A	9: 36,582,558	W26C	unknown	Het
Gm21994	A	T	2: 150,255,262	C82*	probably null	Het
Gm42669	A	G	5: 107,508,276	I802V	probably benign	Het
Gp2	T	C	7: 119,451,645	N288D	probably damaging	Het
Gstm7	C	T	3: 107,926,962	D196N	probably benign	Het
Hsph1	A	T	5: 149,630,400	V201D	probably damaging	Het
Il20ra	T	C	10: 19,712,710	L26P	unknown	Het
Itpr1	T	A	6: 108,431,498		probably null	Het
Kcns3	A	T	12: 11,091,687	I337N	probably damaging	Het
Kdm4d	A	G	9: 14,464,179	Y128H	probably damaging	Het
Kirrel2	A	G	7: 30,454,574	I200T	probably benign	Het
Klhdc10	T	A	6: 30,450,503	I294N	probably damaging	Het
Map1a	A	C	2: 121,300,239	N512T	probably damaging	Het
March8	C	G	6: 116,403,543	C118W	probably damaging	Het
March8	T	G	6: 116,403,544	C119G	probably damaging	Het
Mrpl38	G	T	11: 116,134,915	P195Q	probably damaging	Het
Ms4a4d	A	T	19: 11,548,583	Q27L	probably benign	Het
Muc16	T	A	9: 18,658,236	T996S	unknown	Het
Mug1	C	T	6: 121,861,125	A438V	probably benign	Het
Mup7	T	A	4: 60,069,866	I33F	probably damaging	Het
Ndufa5	C	T	6: 24,519,191		probably null	Het
Olfr1133	A	T	2: 87,645,976	L49Q	probably damaging	Het
Olfr1141	T	C	2: 87,753,871	I41V	probably benign	Het
Olfr1535	A	G	13: 21,555,938	F28S	probably benign	Het
Olfr167	A	T	16: 19,515,456	F60Y	probably benign	Het
Olfr873	T	A	9: 20,300,663	C154*	probably null	Het
Parp9	T	A	16: 35,960,063		probably null	Het
Pbx1	T	A	1: 168,431,380	D42V	probably damaging	Het
Pde4dip	G	T	3: 97,715,422	N1490K	possibly damaging	Het
Pdzd2	T	C	15: 12,372,561	N2496S	probably benign	Het
Pdzd2	A	G	15: 12,372,975	M2358T	probably benign	Het
Pglyrp2	C	A	17: 32,415,930	C486F	probably damaging	Het
Pi4ka	A	G	16: 17,297,067		probably benign	Het
Pknox2	T	A	9: 36,909,667	T300S	probably damaging	Het
Plekhm3	A	G	1: 64,883,270	I582T	probably damaging	Het
Prtg	T	C	9: 72,891,985	Y766H	possibly damaging	Het
Rabgap1	A	G	2: 37,560,563	E901G	probably benign	Het
Rabgap1l	A	T	1: 160,342,072	N60K	probably damaging	Het
Rnf150	C	T	8: 83,042,663	T359I	probably benign	Het
Rps6ka2	C	T	17: 7,255,932	H236Y	probably benign	Het
Scn7a	C	A	2: 66,741,959	G223C	probably null	Het
Sema6a	T	A	18: 47,298,217	N138I	probably damaging	Het
Sept5	T	A	16: 18,624,909	I97F	probably damaging	Het
Shcbp1	T	A	8: 4,754,234	E225D	probably damaging	Het
Slc25a19	A	G	11: 115,620,966	C124R	probably damaging	Het
Slc37a2	C	T	9: 37,233,887	A428T	probably damaging	Het
Slc5a12	A	G	2: 110,644,364	I538V	probably benign	Het
Slco4c1	A	T	1: 96,823,781		probably null	Het
Smarcad1	T	C	6: 65,052,670	S81P	probably damaging	Het
Smyd1	T	C	6: 71,238,627	D116G	probably damaging	Het
Themis	T	C	10: 28,789,707	Y589H	probably benign	Het
Trim30d	T	C	7: 104,483,336	K248R	probably benign	Het
Tspan12	C	T	6: 21,772,919	M210I	probably benign	Het
Vmn2r11	T	C	5: 109,053,423	Y405C	probably damaging	Het
Wdfy3	A	G	5: 101,894,909		probably null	Het
Wiz	C	A	17: 32,361,866	A83S	probably damaging	Het
Zmym6	T	A	4: 127,123,544	Y947*	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
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
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'- AGACCTGGCTTCTGTCCAAG -3'
(R):5'- GATCACAACTAGGGCCTCATAC -3'

Sequencing Primer
(F):5'- AAGTCCCAGCATGGTGTG -3'
(R):5'- GGCCTCATACCCATTAGAAAAGTAC -3'

Posted On

2019-05-13