Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03046:Rrp8'

391859

Institutional Source

Beutler Lab

Gene Symbol

Rrp8

Ensembl Gene

ENSMUSG00000030888

Gene Name

ribosomal RNA processing 8

Synonyms

1500003O22Rik, 2900001K19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

IGL03046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105380937-105386592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105384109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 131 (V131A)

Ref Sequence

ENSEMBL: ENSMUSP00000095752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033179] [ENSMUST00000033182] [ENSMUST00000098148] [ENSMUST00000136687] [ENSMUST00000141116] [ENSMUST00000149695] [ENSMUST00000163389]

AlphaFold

Q9DB85

Predicted Effect

probably benign
Transcript: ENSMUST00000033179
AA Change: V85A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033179
Gene: ENSMUSG00000030888
AA Change: V85A

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 benign
Transcript: ENSMUST00000098148
AA Change: V131A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095752
Gene: ENSMUSG00000030888
AA Change: V131A

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

probably benign
Transcript: ENSMUST00000141116

SMART Domains

Protein: ENSMUSP00000118105
Gene: ENSMUSG00000043866

Domain	Start	End	E-Value	Type
low complexity region	17	39	N/A	INTRINSIC
low complexity region	45	91	N/A	INTRINSIC
Pfam:TFIID_30kDa	128	177	6.1e-30	PFAM
low complexity region	181	192	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149695

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148176

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,636,282 (GRCm39)	M717K	probably benign	Het
Acad12	C	A	5: 121,748,029 (GRCm39)	V130L	probably benign	Het
Cdca2	T	C	14: 67,937,471 (GRCm39)		probably benign	Het
Cfap100	T	A	6: 90,389,332 (GRCm39)		probably null	Het
Cfap43	T	A	19: 47,804,302 (GRCm39)	E298V	probably damaging	Het
Cic	C	T	7: 24,990,500 (GRCm39)	P1971S	probably damaging	Het
Cnga1	T	C	5: 72,761,681 (GRCm39)	D611G	probably benign	Het
Daglb	C	T	5: 143,486,948 (GRCm39)	P522L	probably damaging	Het
Dclre1b	A	T	3: 103,710,597 (GRCm39)	I438K	probably benign	Het
Ddx5	C	A	11: 106,675,871 (GRCm39)	R273M	probably damaging	Het
Eepd1	C	T	9: 25,393,981 (GRCm39)	L82F	probably damaging	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Exoc6	T	C	19: 37,582,217 (GRCm39)		probably null	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Foxs1	T	C	2: 152,774,484 (GRCm39)	T190A	probably benign	Het
Gje1	A	G	10: 14,592,374 (GRCm39)	L136P	probably damaging	Het
Hdac11	A	G	6: 91,145,827 (GRCm39)	T176A	probably benign	Het
Hhip	C	A	8: 80,698,967 (GRCm39)	V700L	probably damaging	Het
Hps5	T	C	7: 46,426,463 (GRCm39)		probably benign	Het
Itgb1bp1	T	C	12: 21,329,436 (GRCm39)	S13G	unknown	Het
Kcna1	A	T	6: 126,619,148 (GRCm39)	L391M	possibly damaging	Het
Kif1a	C	T	1: 93,010,128 (GRCm39)	V6M	probably damaging	Het
Klhl6	T	C	16: 19,801,639 (GRCm39)	I39V	probably benign	Het
Lpcat4	C	A	2: 112,072,334 (GRCm39)		silent	Het
Ltn1	A	T	16: 87,202,509 (GRCm39)	S1047R	probably benign	Het
Mdn1	A	G	4: 32,694,495 (GRCm39)	T1073A	possibly damaging	Het
Megf10	G	T	18: 57,421,055 (GRCm39)	A898S	possibly damaging	Het
Mtmr6	T	C	14: 60,529,577 (GRCm39)		probably null	Het
Mtnr1b	T	C	9: 15,774,059 (GRCm39)	I333M	probably benign	Het
Muc5ac	G	T	7: 141,348,950 (GRCm39)	C463F	probably benign	Het
Mycbpap	G	T	11: 94,396,543 (GRCm39)	T99N	possibly damaging	Het
Myo7a	C	T	7: 97,728,534 (GRCm39)	C824Y	probably damaging	Het
N4bp2	A	G	5: 65,948,303 (GRCm39)	H311R	probably damaging	Het
Nepro	T	A	16: 44,552,509 (GRCm39)		probably benign	Het
Nop56	A	T	2: 130,117,489 (GRCm39)		probably benign	Het
Nup210	A	G	6: 90,995,978 (GRCm39)		probably benign	Het
Or4d10c	A	G	19: 12,065,391 (GRCm39)	V255A	probably damaging	Het
Or7g25	T	A	9: 19,160,441 (GRCm39)	I85F	probably damaging	Het
Pcna	C	T	2: 132,093,673 (GRCm39)	E109K	probably benign	Het
Pgap6	A	T	17: 26,338,414 (GRCm39)		probably null	Het
Pkhd1	T	G	1: 20,607,589 (GRCm39)	D1089A	possibly damaging	Het
Plb1	A	G	5: 32,485,756 (GRCm39)	R847G	probably damaging	Het
Pou6f2	A	G	13: 18,303,612 (GRCm39)		probably benign	Het
Prss43	C	G	9: 110,660,049 (GRCm39)	S371C	probably benign	Het
Ralgapa1	A	T	12: 55,741,942 (GRCm39)	V1322D	probably damaging	Het
Rtp1	A	T	16: 23,248,044 (GRCm39)	K39M	probably benign	Het
Sanbr	A	T	11: 23,565,150 (GRCm39)	L279Q	possibly damaging	Het
Slc1a6	A	G	10: 78,636,008 (GRCm39)	I358V	probably benign	Het
Slc25a15	T	C	8: 22,885,726 (GRCm39)		probably benign	Het
Slc43a1	G	A	2: 84,684,897 (GRCm39)		probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Spock3	T	G	8: 63,802,018 (GRCm39)		probably null	Het
Tbc1d7	T	C	13: 43,308,162 (GRCm39)		probably null	Het
Tmem184c	C	T	8: 78,326,286 (GRCm39)	W260*	probably null	Het
Trnau1ap	A	G	4: 132,039,252 (GRCm39)	Y265H	probably damaging	Het
Usp25	T	C	16: 76,871,754 (GRCm39)	F363S	probably damaging	Het
Vcl	T	C	14: 21,072,085 (GRCm39)	F817L	possibly damaging	Het
Vmn1r13	T	A	6: 57,187,717 (GRCm39)	M292K	probably benign	Het
Xpc	G	T	6: 91,487,463 (GRCm39)	A89E	probably damaging	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
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
R8686:Rrp8	UTSW	7	105,382,781 (GRCm39)	missense	probably damaging	1.00
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'- TTTGGTCAACACTGTCCAGGG -3'
(R):5'- TAGCTGAAGCCCATCTCTCC -3'

Sequencing Primer
(F):5'- TGGGTTAGGTGTAAAGAGGAATATTC -3'
(R):5'- AGTCTCCAGGCCTCGTC -3'

Posted On

2016-06-07