Mutagenetix > Incidental Mutation

Incidental Mutation 'R4298:Rrs1'

368397

Institutional Source

Beutler Lab

Gene Symbol

Rrs1

Ensembl Gene

ENSMUSG00000061024

Gene Name

ribosome biogenesis regulator 1

Synonyms

D1Ertd701e, 5730466A07Rik

MMRRC Submission

041086-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4298 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

9615633-9617680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 9616448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 234 (R234C)

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: R234C

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071955
Gene: ENSMUSG00000061024
AA Change: R234C

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

0.1965

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,258,154 (GRCm39)		probably null	Het
Ccser2	T	A	14: 36,612,337 (GRCm39)	Q158L	possibly damaging	Het
Cct7	T	A	6: 85,445,155 (GRCm39)	C469S	probably damaging	Het
Chmp7	A	T	14: 69,956,650 (GRCm39)		probably null	Het
Clcn4	C	T	7: 7,299,737 (GRCm39)	D31N	possibly damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Ctdp1	A	T	18: 80,493,172 (GRCm39)	V441E	probably benign	Het
Cyp4a10	T	C	4: 115,389,889 (GRCm39)	L498P	probably damaging	Het
Dsc3	A	T	18: 20,113,811 (GRCm39)	N370K	possibly damaging	Het
Dusp12	G	A	1: 170,708,198 (GRCm39)	T173M	probably benign	Het
Ebf3	C	T	7: 136,826,958 (GRCm39)	R318Q	possibly damaging	Het
Epcam	T	C	17: 87,947,962 (GRCm39)		probably null	Het
Erich6	G	T	3: 58,531,712 (GRCm39)	A428D	probably benign	Het
Ext1	A	T	15: 53,208,521 (GRCm39)	I80N	probably benign	Het
Extl1	T	C	4: 134,084,969 (GRCm39)	E667G	probably damaging	Het
F2	T	G	2: 91,459,665 (GRCm39)		probably null	Het
Fbxw16	T	C	9: 109,275,625 (GRCm39)	I135V	probably benign	Het
Glipr1l1	A	T	10: 111,898,252 (GRCm39)	D119V	probably benign	Het
Gprc5b	G	A	7: 118,583,437 (GRCm39)	A144V	possibly damaging	Het
Lmbrd2	G	A	15: 9,165,882 (GRCm39)	R252H	possibly damaging	Het
Lyst	A	G	13: 13,809,472 (GRCm39)	T381A	probably damaging	Het
Mcpt4	A	T	14: 56,298,444 (GRCm39)	V97D	possibly damaging	Het
Nefh	A	G	11: 4,890,066 (GRCm39)	I851T	probably benign	Het
Nf1	A	T	11: 79,275,070 (GRCm39)	I44F	probably damaging	Het
Nyap2	A	T	1: 81,218,811 (GRCm39)	I278F	probably damaging	Het
Or4c52	A	T	2: 89,845,993 (GRCm39)	T240S	probably benign	Het
Or4f7d-ps1	G	T	2: 111,674,789 (GRCm39)		noncoding transcript	Het
Pdcd4	C	A	19: 53,908,092 (GRCm39)	P201Q	probably damaging	Het
Pramel16	A	T	4: 143,675,713 (GRCm39)	L371*	probably null	Het
Prdm11	T	C	2: 92,823,728 (GRCm39)	T179A	probably benign	Het
Qrfpr	T	A	3: 36,243,703 (GRCm39)	I133F	probably damaging	Het
Rack1	T	C	11: 48,692,453 (GRCm39)		probably benign	Het
Reln	A	C	5: 22,125,485 (GRCm39)	C2733G	probably damaging	Het
Sag	G	C	1: 87,772,737 (GRCm39)	D402H	probably benign	Het
Sbk3	T	A	7: 4,972,979 (GRCm39)	T64S	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Sh3gl1	C	T	17: 56,326,173 (GRCm39)	G111D	probably damaging	Het
Spata20	G	A	11: 94,373,914 (GRCm39)	R379W	probably damaging	Het
St3gal2	T	C	8: 111,688,991 (GRCm39)	M177T	probably benign	Het
Stk39	C	T	2: 68,221,284 (GRCm39)	G213D	probably damaging	Het
Szt2	A	G	4: 118,222,603 (GRCm39)		probably benign	Het
Taf1d	T	C	9: 15,219,939 (GRCm39)	S63P	probably damaging	Het
Tnfrsf13b	C	G	11: 61,031,643 (GRCm39)		probably null	Het
Ttn	G	T	2: 76,554,394 (GRCm39)	A30807D	probably damaging	Het
Unc119	A	G	11: 78,238,948 (GRCm39)	N158S	probably damaging	Het
Vmn2r116	T	A	17: 23,620,801 (GRCm39)	I845N	possibly damaging	Het
Vmn2r12	C	A	5: 109,239,830 (GRCm39)	M244I	probably benign	Het
Zdhhc4	A	G	5: 143,309,997 (GRCm39)	V87A	probably damaging	Het
Zwilch	A	G	9: 64,062,444 (GRCm39)		probably null	Het

Other mutations in Rrs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03098:Rrs1	UTSW	1	9,616,328 (GRCm39)	frame shift	probably null
PIT1430001:Rrs1	UTSW	1	9,616,150 (GRCm39)	missense	probably damaging	1.00
R0207:Rrs1	UTSW	1	9,615,992 (GRCm39)	missense	probably damaging	0.96
R0207:Rrs1	UTSW	1	9,615,987 (GRCm39)	splice site	probably null
R0577:Rrs1	UTSW	1	9,616,026 (GRCm39)	splice site	probably null
R1165:Rrs1	UTSW	1	9,615,992 (GRCm39)	missense	probably damaging	0.96
R1222:Rrs1	UTSW	1	9,616,080 (GRCm39)	missense	probably benign	0.00
R1238:Rrs1	UTSW	1	9,616,026 (GRCm39)	splice site	probably null
R1397:Rrs1	UTSW	1	9,615,992 (GRCm39)	missense	probably damaging	0.96
R1598:Rrs1	UTSW	1	9,616,137 (GRCm39)	missense	probably benign	0.15
R2338:Rrs1	UTSW	1	9,616,026 (GRCm39)	splice site	probably null
R4280:Rrs1	UTSW	1	9,616,364 (GRCm39)	missense	probably damaging	0.96
R4287:Rrs1	UTSW	1	9,616,448 (GRCm39)	missense	possibly damaging	0.82
R4287:Rrs1	UTSW	1	9,616,440 (GRCm39)	missense	probably damaging	1.00
R4326:Rrs1	UTSW	1	9,616,566 (GRCm39)	missense	possibly damaging	0.95
R4475:Rrs1	UTSW	1	9,615,810 (GRCm39)	missense	probably damaging	1.00
R4566:Rrs1	UTSW	1	9,616,452 (GRCm39)	missense	probably damaging	1.00
R4986:Rrs1	UTSW	1	9,615,992 (GRCm39)	missense	probably damaging	0.96
R6597:Rrs1	UTSW	1	9,616,601 (GRCm39)	missense	probably damaging	0.98
R7529:Rrs1	UTSW	1	9,616,417 (GRCm39)	missense	probably benign
R7728:Rrs1	UTSW	1	9,616,623 (GRCm39)	missense	possibly damaging	0.78
R8134:Rrs1	UTSW	1	9,615,645 (GRCm39)	unclassified	probably benign
R8799:Rrs1	UTSW	1	9,615,819 (GRCm39)	missense	probably damaging	1.00
R9060:Rrs1	UTSW	1	9,616,677 (GRCm39)	missense	probably damaging	1.00
R9360:Rrs1	UTSW	1	9,616,845 (GRCm39)	makesense	probably null
R9609:Rrs1	UTSW	1	9,616,518 (GRCm39)	missense	probably benign	0.30
R9685:Rrs1	UTSW	1	9,616,390 (GRCm39)	missense	probably benign	0.44

Predicted Primers

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

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

Posted On

2016-02-04