Mutagenetix > Incidental Mutations

Incidental Mutation 'R4940:Rrp8'

383004

Institutional Source

Beutler Lab

Gene Symbol

Rrp8

Ensembl Gene

ENSMUSG00000030888

Gene Name

ribosomal RNA processing 8, methyltransferase, homolog (yeast)

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.289) question?

Stock #

R4940 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105731730-105737385 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 105734077 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 327 (Y327*)

Ref Sequence

ENSEMBL: ENSMUSP00000095752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033179] [ENSMUST00000033182] [ENSMUST00000098148] [ENSMUST00000136687] [ENSMUST00000149695] [ENSMUST00000163389]

Predicted Effect

probably null
Transcript: ENSMUST00000033179
AA Change: Y281*

SMART Domains

Protein: ENSMUSP00000033179
Gene: ENSMUSG00000030888
AA Change: Y281*

Domain	Start	End	E-Value	Type
low complexity region	186	202	N/A	INTRINSIC
Pfam:Methyltransf_8	238	457	2.4e-107	PFAM
Pfam:Methyltransf_11	314	391	2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000033182

SMART Domains

Protein: ENSMUSP00000033182
Gene: ENSMUSG00000030890

Domain	Start	End	E-Value	Type
ANK	33	62	4.71e-6	SMART
ANK	66	95	1.04e-7	SMART
ANK	99	128	1.02e-1	SMART
Pfam:Pkinase	193	445	1.5e-25	PFAM
Pfam:Pkinase_Tyr	193	446	7.2e-40	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000098148
AA Change: Y327*

SMART Domains

Protein: ENSMUSP00000095752
Gene: ENSMUSG00000030888
AA Change: Y327*

Domain	Start	End	E-Value	Type
low complexity region	232	248	N/A	INTRINSIC
Pfam:Methyltransf_8	284	503	7.5e-107	PFAM
Pfam:Methyltransf_11	348	437	2.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127738

Predicted Effect

probably benign
Transcript: ENSMUST00000136687

SMART Domains

Protein: ENSMUSP00000123443
Gene: ENSMUSG00000030890

Domain	Start	End	E-Value	Type
ANK	33	62	4.71e-6	SMART
ANK	66	95	1.04e-7	SMART
ANK	99	128	1.02e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148176

Predicted Effect

probably benign
Transcript: ENSMUST00000149695

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154852

Predicted Effect

probably benign
Transcript: ENSMUST00000163389

SMART Domains

Protein: ENSMUSP00000130341
Gene: ENSMUSG00000030890

Domain	Start	End	E-Value	Type
ANK	33	62	4.71e-6	SMART
ANK	66	95	1.04e-7	SMART
ANK	99	128	1.02e-1	SMART
Pfam:Pkinase_Tyr	193	446	4e-39	PFAM
Pfam:Pkinase	195	445	3e-23	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	A	G	5: 98,737,636	H134R	possibly damaging	Het
3632451O06Rik	A	T	14: 49,773,482	M256K	probably benign	Het
4931414P19Rik	T	C	14: 54,591,325	T240A	probably benign	Het
Abca15	T	C	7: 120,332,694	Y57H	probably benign	Het
Adgrf4	A	G	17: 42,666,529	I641T	possibly damaging	Het
Ankrd11	A	G	8: 122,889,821	Y2410H	probably damaging	Het
Apbb2	C	A	5: 66,452,261	L14F	probably null	Het
Arhgdia	T	C	11: 120,579,235	D204G	probably damaging	Het
Catsperd	A	T	17: 56,662,736	Y610F	possibly damaging	Het
Cblb	T	A	16: 52,033,103	D27E	probably damaging	Het
Ccdc180	A	T	4: 45,917,453	I893F	probably damaging	Het
Ccdc180	A	G	4: 45,917,508	H911R	probably damaging	Het
Cdh23	T	A	10: 60,307,935	I2966F	probably damaging	Het
Chat	G	A	14: 32,419,105	P445L	probably damaging	Het
Chdh	G	T	14: 30,032,852	R273L	possibly damaging	Het
Clic3	T	C	2: 25,457,917	V72A	probably benign	Het
Cyp2d12	T	A	15: 82,558,050	D244E	probably benign	Het
Ddr1	T	A	17: 35,690,130	D241V	probably damaging	Het
Dock7	T	A	4: 99,020,077	K605N	probably damaging	Het
Dsg2	T	A	18: 20,579,430	F164I	probably damaging	Het
Dstyk	T	A	1: 132,453,106	N446K	probably damaging	Het
Epb42	A	T	2: 121,034,451	L53Q	probably damaging	Het
Extl2	G	C	3: 116,027,192	K229N	probably benign	Het
Frmd4b	T	A	6: 97,298,090	S617C	probably damaging	Het
Fscb	C	T	12: 64,473,814	V293I	probably benign	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gm4978	A	C	9: 69,450,872		probably benign	Het
Gm6729	A	G	10: 86,540,388		noncoding transcript	Het
Gnat2	A	C	3: 108,100,616	N293T	probably benign	Het
Herpud1	T	C	8: 94,390,842	I142T	probably benign	Het
Irak2	G	A	6: 113,693,730	V536I	probably benign	Het
Kcnu1	A	T	8: 25,897,862		probably null	Het
Kdm4a	A	G	4: 118,161,754	S422P	probably benign	Het
Lair1	T	A	7: 4,028,949	D53V	probably benign	Het
Lhx1	G	T	11: 84,519,909	Y196*	probably null	Het
Lrrc37a	G	A	11: 103,497,612	T2329I	unknown	Het
Mag	T	C	7: 30,909,200	D163G	probably damaging	Het
Magi3	A	G	3: 104,051,392	V459A	probably damaging	Het
Med13	A	G	11: 86,288,118	Y1451H	probably damaging	Het
Megf8	T	A	7: 25,360,706	C2341S	probably damaging	Het
Mppe1	A	G	18: 67,228,024	C221R	probably damaging	Het
Mtus1	T	A	8: 41,041,478	H39L	possibly damaging	Het
Nkpd1	C	T	7: 19,523,573	Q276*	probably null	Het
Nkx3-1	G	A	14: 69,190,918	G72S	probably benign	Het
Nutm2	T	C	13: 50,474,873	C658R	possibly damaging	Het
Olfm1	T	C	2: 28,222,590	V239A	possibly damaging	Het
Pcnx	C	T	12: 81,917,793	H245Y	possibly damaging	Het
Pgm3	A	G	9: 86,559,476	L356S	probably damaging	Het
Pik3r4	C	G	9: 105,668,994	H207D	probably benign	Het
Pkd1l1	T	C	11: 8,844,585	T1859A	probably benign	Het
Pon3	A	T	6: 5,221,625	V335E	possibly damaging	Het
Ppp4r3b	A	G	11: 29,211,740	T705A	probably benign	Het
Prmt7	T	C	8: 106,237,278	V268A	probably benign	Het
Psd	C	T	19: 46,322,417	G398R	probably damaging	Het
Pygl	A	G	12: 70,206,381	V188A	probably damaging	Het
Rnf13	T	A	3: 57,796,206	N110K	probably damaging	Het
Rnf170	C	T	8: 26,125,911	Q77*	probably null	Het
Ruvbl2	T	C	7: 45,424,726	D228G	probably damaging	Het
Scgn	T	A	13: 23,989,824	T35S	probably benign	Het
Scyl3	C	T	1: 163,934,747	P74S	probably damaging	Het
Sec61b	T	G	4: 47,483,074	S123A	probably benign	Het
Sertad2	T	C	11: 20,647,899	S32P	possibly damaging	Het
Slc23a3	T	C	1: 75,133,803		probably null	Het
Sult2a2	T	G	7: 13,738,298	V140G	probably benign	Het
Tbc1d4	A	T	14: 101,507,231	S320T	probably benign	Het
Trabd2b	T	C	4: 114,408,944	Y52H	probably damaging	Het
Traf2	T	C	2: 25,530,288	E183G	probably null	Het
Trip10	G	T	17: 57,263,017	V561F	possibly damaging	Het
Ttc7	G	T	17: 87,306,958	V184F	probably benign	Het
Ubc	A	G	5: 125,386,229	V678A	probably benign	Het
Unk	A	G	11: 116,053,665	E414G	possibly damaging	Het
Usp42	T	C	5: 143,719,762	N365D	probably damaging	Het
Zbtb26	A	T	2: 37,436,769	I85K	probably damaging	Het
Zfhx2	A	T	14: 55,066,434	H1364Q	possibly damaging	Het

Other mutations in Rrp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Rrp8	APN	7	105733016	unclassified	probably benign
IGL02792:Rrp8	APN	7	105733811	nonsense	probably null
IGL03010:Rrp8	APN	7	105734391	missense	probably benign	0.01
IGL03404:Rrp8	APN	7	105734938	missense	probably benign	0.41
IGL03046:Rrp8	UTSW	7	105734902	missense	probably benign	0.00
R0682:Rrp8	UTSW	7	105734011	missense	probably damaging	0.97
R2314:Rrp8	UTSW	7	105734804	missense	probably benign	0.37
R4222:Rrp8	UTSW	7	105734022	missense	possibly damaging	0.86
R4778:Rrp8	UTSW	7	105737274	intron	probably benign
R5315:Rrp8	UTSW	7	105734000	missense	probably benign	0.00
R5480:Rrp8	UTSW	7	105734129	missense	probably damaging	1.00
R5630:Rrp8	UTSW	7	105733401	missense	possibly damaging	0.83
R6266:Rrp8	UTSW	7	105736389	missense	probably damaging	1.00
R6351:Rrp8	UTSW	7	105734809	missense	probably damaging	0.99
R6353:Rrp8	UTSW	7	105734118	nonsense	probably null
R7070:Rrp8	UTSW	7	105734876	missense	possibly damaging	0.90
R7092:Rrp8	UTSW	7	105734109	missense	probably damaging	1.00
R7632:Rrp8	UTSW	7	105736520	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TACCACTAAGGATGCAGGCCTG -3'
(R):5'- TCCCAAGGCTTCCATAGAGG -3'

Sequencing Primer
(F):5'- ATGCAGGCCTGGGAGTG -3'
(R):5'- TAGAGGAGACTGAGGTGCCTCC -3'

Posted On

2016-04-27