Mutagenetix > Incidental Mutation

Incidental Mutation 'R8686:Rrp8'

662044

Institutional Source

Beutler Lab

Gene Symbol

Rrp8

Ensembl Gene

ENSMUSG00000030888

Gene Name

ribosomal RNA processing 8

Synonyms

1500003O22Rik, 2900001K19Rik

MMRRC Submission

068541-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R8686 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105380937-105386592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105382781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 418 (I418N)

Ref Sequence

ENSEMBL: ENSMUSP00000095752 (fasta)

Gene Model

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

AlphaFold

Q9DB85

Predicted Effect

probably damaging
Transcript: ENSMUST00000033179
AA Change: I372N

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

SMART Domains

Protein: ENSMUSP00000033179
Gene: ENSMUSG00000030888
AA Change: I372N

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 damaging
Transcript: ENSMUST00000098148
AA Change: I418N

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

SMART Domains

Protein: ENSMUSP00000095752
Gene: ENSMUSG00000030888
AA Change: I418N

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

probably benign
Transcript: ENSMUST00000149695

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 41,208,521 (GRCm39)	T596A	probably benign	Het
Adamts6	A	G	13: 104,450,207 (GRCm39)	I303V	probably damaging	Het
Alpl	A	T	4: 137,471,112 (GRCm39)	H341Q	probably damaging	Het
Cachd1	G	A	4: 100,845,325 (GRCm39)	R939H	probably damaging	Het
Cd22	G	A	7: 30,569,494 (GRCm39)	R541C	probably benign	Het
Cenpf	A	T	1: 189,391,801 (GRCm39)	M660K	probably benign	Het
Cmya5	A	T	13: 93,231,888 (GRCm39)	S1067T	possibly damaging	Het
Col5a2	C	T	1: 45,461,147 (GRCm39)	G250D	probably damaging	Het
Cylc2	C	T	4: 51,229,651 (GRCm39)	T331M	unknown	Het
Dgka	A	G	10: 128,568,962 (GRCm39)	M201T	probably benign	Het
Dnajc13	T	C	9: 104,048,004 (GRCm39)	I1804V	probably benign	Het
Dym	T	A	18: 75,419,754 (GRCm39)	Y642N	probably damaging	Het
Efr3b	A	T	12: 4,050,886 (GRCm39)	D26E	probably damaging	Het
Emilin1	A	T	5: 31,075,040 (GRCm39)	K427M	possibly damaging	Het
Fam187b	T	C	7: 30,676,659 (GRCm39)	L56S	probably benign	Het
Fbh1	C	T	2: 11,760,469 (GRCm39)	V694I	probably benign	Het
Fgd2	C	T	17: 29,597,997 (GRCm39)	T644I	probably benign	Het
G6pc1	T	G	11: 101,265,533 (GRCm39)		probably null	Het
Gli2	A	G	1: 118,764,417 (GRCm39)	S1245P	probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Ighv1-84	T	C	12: 115,944,524 (GRCm39)	D50G	probably benign	Het
Impdh1	C	A	6: 29,216,214 (GRCm39)		probably benign	Het
Inhca	C	T	9: 103,136,627 (GRCm39)	A525T	probably benign	Het
Irf4	A	T	13: 30,945,433 (GRCm39)	D393V	possibly damaging	Het
Kalrn	A	G	16: 34,181,305 (GRCm39)	L111P	probably damaging	Het
Lrch3	T	C	16: 32,802,223 (GRCm39)	V58A	possibly damaging	Het
Lrif1	C	T	3: 106,640,097 (GRCm39)	T394I	probably damaging	Het
Map4k1	A	G	7: 28,693,498 (GRCm39)	T434A	probably benign	Het
Mcur1	G	A	13: 43,695,193 (GRCm39)	T327M	probably damaging	Het
Myo9b	G	T	8: 71,786,966 (GRCm39)	S716I	probably benign	Het
Nol10	T	A	12: 17,419,772 (GRCm39)		probably benign	Het
Nos3	A	G	5: 24,573,841 (GRCm39)	T202A	possibly damaging	Het
Odad1	A	G	7: 45,597,116 (GRCm39)	T456A	probably benign	Het
Or14j7	T	C	17: 38,235,168 (GRCm39)	V237A	probably benign	Het
Or2d4	A	C	7: 106,543,905 (GRCm39)	M101R	probably benign	Het
Parp12	A	T	6: 39,094,856 (GRCm39)	S80T	probably benign	Het
Pde1a	C	T	2: 79,758,086 (GRCm39)	V50I	probably benign	Het
Pfkl	A	T	10: 77,833,356 (GRCm39)		probably null	Het
Phkg1	A	T	5: 129,895,056 (GRCm39)	Y207N	probably damaging	Het
Pik3r4	A	G	9: 105,535,728 (GRCm39)	T640A	possibly damaging	Het
Pip5k1c	C	A	10: 81,147,827 (GRCm39)	H411N	probably damaging	Het
Pla2g4e	A	G	2: 120,075,172 (GRCm39)	S73P	probably damaging	Het
Polr2b	T	C	5: 77,483,510 (GRCm39)	V662A	probably damaging	Het
Prss43	C	T	9: 110,658,494 (GRCm39)	R265C	possibly damaging	Het
Rap1b	A	T	10: 117,658,746 (GRCm39)	V29D	probably damaging	Het
Rraga	A	G	4: 86,495,048 (GRCm39)	E298G	probably damaging	Het
Siglecf	T	C	7: 43,005,030 (GRCm39)	V420A	probably benign	Het
Snx14	T	A	9: 88,297,746 (GRCm39)	N174I	probably damaging	Het
Speer4e1	T	C	5: 14,984,129 (GRCm39)	N229S	probably benign	Het
Spopfm2	T	C	3: 94,083,427 (GRCm39)	D128G	probably benign	Het
Teddm3	A	G	16: 20,971,685 (GRCm39)	*295Q	probably null	Het
Tfap2c	A	G	2: 172,393,926 (GRCm39)	D245G	possibly damaging	Het
Tfap2d	A	G	1: 19,178,508 (GRCm39)	N191S	probably benign	Het
Tmt1b	A	T	10: 128,796,476 (GRCm39)	M111K	possibly damaging	Het
Unc80	A	G	1: 66,651,427 (GRCm39)	R1591G	possibly damaging	Het
Vmn1r116	T	C	7: 20,606,616 (GRCm39)	W146R	probably damaging	Het
Vps13b	C	G	15: 35,925,535 (GRCm39)	S3823R	probably damaging	Het
Wiz	T	A	17: 32,586,821 (GRCm39)	D163V	probably damaging	Het
Xylt1	G	C	7: 116,980,594 (GRCm39)	A61P	unknown	Het
Zfp521	A	C	18: 13,978,701 (GRCm39)	F571V	probably damaging	Het
Zfp664	T	A	5: 124,963,133 (GRCm39)	C176S	possibly damaging	Het
Zfyve26	T	C	12: 79,334,227 (GRCm39)	N264D	probably benign	Het

Other mutations in Rrp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Rrp8	APN	7	105,382,223 (GRCm39)	unclassified	probably benign
IGL02792:Rrp8	APN	7	105,383,018 (GRCm39)	nonsense	probably null
IGL03010:Rrp8	APN	7	105,383,598 (GRCm39)	missense	probably benign	0.01
IGL03404:Rrp8	APN	7	105,384,145 (GRCm39)	missense	probably benign	0.41
IGL03046:Rrp8	UTSW	7	105,384,109 (GRCm39)	missense	probably benign	0.00
R0682:Rrp8	UTSW	7	105,383,218 (GRCm39)	missense	probably damaging	0.97
R2314:Rrp8	UTSW	7	105,384,011 (GRCm39)	missense	probably benign	0.37
R4222:Rrp8	UTSW	7	105,383,229 (GRCm39)	missense	possibly damaging	0.86
R4778:Rrp8	UTSW	7	105,386,481 (GRCm39)	intron	probably benign
R4940:Rrp8	UTSW	7	105,383,284 (GRCm39)	nonsense	probably null
R5315:Rrp8	UTSW	7	105,383,207 (GRCm39)	missense	probably benign	0.00
R5480:Rrp8	UTSW	7	105,383,336 (GRCm39)	missense	probably damaging	1.00
R5630:Rrp8	UTSW	7	105,382,608 (GRCm39)	missense	possibly damaging	0.83
R6266:Rrp8	UTSW	7	105,385,596 (GRCm39)	missense	probably damaging	1.00
R6351:Rrp8	UTSW	7	105,384,016 (GRCm39)	missense	probably damaging	0.99
R6353:Rrp8	UTSW	7	105,383,325 (GRCm39)	nonsense	probably null
R7070:Rrp8	UTSW	7	105,384,083 (GRCm39)	missense	possibly damaging	0.90
R7092:Rrp8	UTSW	7	105,383,316 (GRCm39)	missense	probably damaging	1.00
R7632:Rrp8	UTSW	7	105,385,727 (GRCm39)	unclassified	probably benign
R8806:Rrp8	UTSW	7	105,384,244 (GRCm39)	missense	probably damaging	1.00
R8927:Rrp8	UTSW	7	105,384,073 (GRCm39)	missense	possibly damaging	0.91
R8928:Rrp8	UTSW	7	105,384,073 (GRCm39)	missense	possibly damaging	0.91
R9299:Rrp8	UTSW	7	105,383,384 (GRCm39)	missense	probably damaging	0.98
R9337:Rrp8	UTSW	7	105,383,384 (GRCm39)	missense	probably damaging	0.98
R9542:Rrp8	UTSW	7	105,382,606 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTAAAGCCGAGTTTGGTCACAG -3'
(R):5'- TAAGCCCCTCTGTGTGTCTG -3'

Sequencing Primer
(F):5'- GTTTGGTCACAGCCCCCAAAAAG -3'
(R):5'- GTGTGTCTGGCCTAACCC -3'

Posted On

2021-03-08