Mutagenetix > Incidental Mutation

Incidental Mutation 'R4326:Rrs1'

371150

Institutional Source

Beutler Lab

Gene Symbol

Rrs1

Ensembl Gene

ENSMUSG00000061024

Gene Name

ribosome biogenesis regulator 1

Synonyms

5730466A07Rik, D1Ertd701e

MMRRC Submission

041096-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4326 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

9545408-9547455 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 9546341 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 273 (R273L)

Ref Sequence

ENSEMBL: ENSMUSP00000071955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027044] [ENSMUST00000072079] [ENSMUST00000130927] [ENSMUST00000144177] [ENSMUST00000186467]

AlphaFold

Q9CYH6

Predicted Effect

probably benign
Transcript: ENSMUST00000027044

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072079
AA Change: R273L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071955
Gene: ENSMUSG00000061024
AA Change: R273L

Domain	Start	End	E-Value	Type
low complexity region	7	22	N/A	INTRINSIC
Pfam:RRS1	31	193	3.5e-62	PFAM
low complexity region	302	337	N/A	INTRINSIC
low complexity region	351	365	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130927

Predicted Effect

probably benign
Transcript: ENSMUST00000144177

SMART Domains

Protein: ENSMUSP00000116627
Gene: ENSMUSG00000025911

Domain	Start	End	E-Value	Type
Pfam:Fe-ADH	50	454	2.1e-105	PFAM
Pfam:Fe-ADH_2	53	155	6.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186467

Predicted Effect

probably benign
Transcript: ENSMUST00000190654

Meta Mutation Damage Score

0.1014

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	A	G	19: 7,421,226		probably benign	Het
3110043O21Rik	T	A	4: 35,225,985		probably benign	Het
Abcd3	A	G	3: 121,761,470	V616A	probably benign	Het
Abhd17a	A	G	10: 80,584,050	S241P	probably benign	Het
Adamts15	T	C	9: 30,904,518	S681G	probably benign	Het
Arap2	A	T	5: 62,621,863	H1461Q	possibly damaging	Het
Armc3	A	G	2: 19,300,473	K681E	probably damaging	Het
Arrdc5	T	C	17: 56,294,420	E235G	possibly damaging	Het
Atxn1	T	C	13: 45,965,967		probably benign	Het
Capn13	C	A	17: 73,331,108	K433N	probably benign	Het
Ccdc113	G	A	8: 95,557,268	M323I	probably benign	Het
Cd55	A	T	1: 130,452,483	C253S	probably damaging	Het
Cyp2j8	T	A	4: 96,507,329	T20S	probably benign	Het
Dnah8	G	A	17: 30,752,092	V2707M	probably benign	Het
Erlec1	C	T	11: 30,949,972	E166K	probably benign	Het
Fastkd2	A	G	1: 63,752,357	K675E	probably benign	Het
Gid4	G	A	11: 60,417,836	V61M	possibly damaging	Het
Glt28d2	G	A	3: 85,872,086	Q27*	probably null	Het
Ipo8	A	T	6: 148,800,164		probably benign	Het
Isx	A	G	8: 74,873,656	I6V	probably benign	Het
Itsn1	A	G	16: 91,853,855		probably benign	Het
Klhl40	A	G	9: 121,778,890	D372G	probably benign	Het
Krt80	C	T	15: 101,352,308	V19M	possibly damaging	Het
Lingo2	T	A	4: 35,708,462	D506V	probably damaging	Het
Lmo7	A	T	14: 101,900,074	E504D	possibly damaging	Het
Lpcat4	G	A	2: 112,246,392	E454K	probably benign	Het
Macf1	C	T	4: 123,382,212	A4176T	probably damaging	Het
Noxo1	G	A	17: 24,698,963	R81H	probably benign	Het
Olfr479	T	C	7: 108,055,155	Y58H	probably damaging	Het
Olfr854	T	A	9: 19,567,022	M121L	possibly damaging	Het
Pafah1b1	T	C	11: 74,682,240	T333A	probably benign	Het
Pak1ip1	A	G	13: 41,004,756	D35G	possibly damaging	Het
Pak3	T	C	X: 143,733,209		probably null	Het
Pcdhb9	A	T	18: 37,401,822	S290C	probably benign	Het
Pcdhb9	G	T	18: 37,401,823	S290I	probably benign	Het
Ppp2r2d	T	A	7: 138,868,485	V25D	probably damaging	Het
Prdm15	G	T	16: 97,806,515	N709K	probably damaging	Het
Ptprs	C	A	17: 56,447,468	A191S	possibly damaging	Het
Sin3a	T	C	9: 57,095,358	L178P	probably damaging	Het
Slc13a1	A	G	6: 24,103,479	V355A	probably benign	Het
Spen	T	G	4: 141,477,372	N1315H	unknown	Het
Ssrp1	A	G	2: 85,040,217		probably benign	Het
St7	G	A	6: 17,819,288	V64M	probably damaging	Het
Syne2	C	A	12: 75,952,742	A2304E	probably damaging	Het
Tcf25	T	A	8: 123,401,143	L622*	probably null	Het
Tmem107	G	T	11: 69,071,475		probably null	Het
Tmem62	T	A	2: 120,980,510	N156K	probably damaging	Het
Wdr90	G	T	17: 25,853,731	R884S	probably benign	Het
Zfp184	T	C	13: 21,959,902	Y593H	probably damaging	Het
Zfp934	T	G	13: 62,517,559	N312H	probably benign	Het

Other mutations in Rrs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03098:Rrs1	UTSW	1	9546103	frame shift	probably null
PIT1430001:Rrs1	UTSW	1	9545925	missense	probably damaging	1.00
R0207:Rrs1	UTSW	1	9545762	splice site	probably null
R0207:Rrs1	UTSW	1	9545767	missense	probably damaging	0.96
R0577:Rrs1	UTSW	1	9545801	splice site	probably null
R1165:Rrs1	UTSW	1	9545767	missense	probably damaging	0.96
R1222:Rrs1	UTSW	1	9545855	missense	probably benign	0.00
R1238:Rrs1	UTSW	1	9545801	splice site	probably null
R1397:Rrs1	UTSW	1	9545767	missense	probably damaging	0.96
R1598:Rrs1	UTSW	1	9545912	missense	probably benign	0.15
R2338:Rrs1	UTSW	1	9545801	splice site	probably null
R4280:Rrs1	UTSW	1	9546139	missense	probably damaging	0.96
R4287:Rrs1	UTSW	1	9546215	missense	probably damaging	1.00
R4287:Rrs1	UTSW	1	9546223	missense	possibly damaging	0.82
R4298:Rrs1	UTSW	1	9546223	missense	possibly damaging	0.82
R4475:Rrs1	UTSW	1	9545585	missense	probably damaging	1.00
R4566:Rrs1	UTSW	1	9546227	missense	probably damaging	1.00
R4986:Rrs1	UTSW	1	9545767	missense	probably damaging	0.96
R6597:Rrs1	UTSW	1	9546376	missense	probably damaging	0.98
R7529:Rrs1	UTSW	1	9546192	missense	probably benign
R7728:Rrs1	UTSW	1	9546398	missense	possibly damaging	0.78
R8134:Rrs1	UTSW	1	9545420	unclassified	probably benign
R8799:Rrs1	UTSW	1	9545594	missense	probably damaging	1.00
R9060:Rrs1	UTSW	1	9546452	missense	probably damaging	1.00
R9360:Rrs1	UTSW	1	9546620	makesense	probably null
R9609:Rrs1	UTSW	1	9546293	missense	probably benign	0.30
R9685:Rrs1	UTSW	1	9546165	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- AAGATGCAGATGCCCAGCTC -3'
(R):5'- TGCCAGCTAAAGCAGAAGGC -3'

Sequencing Primer
(F):5'- GCCTGCACCCTACTGGACAC -3'
(R):5'- AGGAATGCTTTTTGCTTCCCAAG -3'

Posted On

2016-02-26