Mutagenetix > Incidental Mutation

Incidental Mutation 'R1598:Rrs1'

175915

Institutional Source

Beutler Lab

Gene Symbol

Rrs1

Ensembl Gene

ENSMUSG00000061024

Gene Name

ribosome biogenesis regulator 1

Synonyms

D1Ertd701e, 5730466A07Rik

MMRRC Submission

039635-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1598 (G1)

Quality Score

131

Status

Not validated

Chromosome

Chromosomal Location

9615633-9617680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9616137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 130 (N130S)

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

probably benign
Transcript: ENSMUST00000072079
AA Change: N130S

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000071955
Gene: ENSMUSG00000061024
AA Change: N130S

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	G	A	11: 80,254,838 (GRCm39)	Q328*	probably null	Het
Aadacl4fm4	T	A	4: 144,396,994 (GRCm39)	K246I	possibly damaging	Het
Adamts1	G	A	16: 85,595,399 (GRCm39)	Q260*	probably null	Het
Add2	A	T	6: 86,075,628 (GRCm39)	Y259F	probably benign	Het
Bora	T	C	14: 99,305,840 (GRCm39)	V403A	probably benign	Het
Ccnl1	G	A	3: 65,854,191 (GRCm39)	R477W	probably damaging	Het
Cdc25a	CG	CGG	9: 109,708,961 (GRCm39)		probably null	Het
Cdr2l	T	C	11: 115,284,203 (GRCm39)	S180P	probably damaging	Het
Cep290	T	A	10: 100,385,191 (GRCm39)	L1889Q	probably damaging	Het
Ces4a	T	C	8: 105,869,453 (GRCm39)	V208A	probably damaging	Het
Col2a1	T	C	15: 97,877,131 (GRCm39)	D1049G	probably damaging	Het
Coro1a	A	T	7: 126,300,864 (GRCm39)	N154K	possibly damaging	Het
Cubn	T	A	2: 13,474,600 (GRCm39)	R401S	probably benign	Het
Cul7	A	T	17: 46,974,017 (GRCm39)	Q1434L	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dars1	G	T	1: 128,301,709 (GRCm39)	D308E	probably benign	Het
Dna2	T	A	10: 62,797,436 (GRCm39)	F604I	probably damaging	Het
Dnah1	T	G	14: 31,023,219 (GRCm39)	I1033L	probably benign	Het
Erlin1	T	C	19: 44,036,112 (GRCm39)	E206G	probably damaging	Het
Esrp2	T	A	8: 106,859,905 (GRCm39)	E345D	probably damaging	Het
Foxa1	T	C	12: 57,589,473 (GRCm39)	D249G	possibly damaging	Het
Ghsr	C	A	3: 27,426,426 (GRCm39)	L161M	probably benign	Het
Gm57858	C	T	3: 36,073,146 (GRCm39)	A379T	probably damaging	Het
Gpr155	C	A	2: 73,200,434 (GRCm39)	V358F	probably damaging	Het
H2-Eb2	A	T	17: 34,553,348 (GRCm39)	N178I	probably damaging	Het
Hydin	T	A	8: 111,137,306 (GRCm39)	I703N	possibly damaging	Het
Kctd15	A	G	7: 34,341,417 (GRCm39)	V170A	probably damaging	Het
Klhl31	A	T	9: 77,558,298 (GRCm39)	Y338F	possibly damaging	Het
Krt5	C	T	15: 101,620,876 (GRCm39)	A124T	probably benign	Het
Krt72	T	A	15: 101,688,688 (GRCm39)	I331F	probably benign	Het
Lrp1b	T	A	2: 41,401,490 (GRCm39)	D388V	probably damaging	Het
Ly9	A	G	1: 171,424,075 (GRCm39)	V382A	probably benign	Het
Mon2	T	C	10: 122,852,301 (GRCm39)	Y1024C	probably damaging	Het
Myh14	A	G	7: 44,287,818 (GRCm39)	F572L	probably damaging	Het
Myh3	A	T	11: 66,983,997 (GRCm39)	D987V	probably damaging	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Nphp4	A	G	4: 152,646,547 (GRCm39)	T1360A	probably benign	Het
Oog4	A	G	4: 143,164,571 (GRCm39)	L320P	probably damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5m9	C	T	2: 85,877,657 (GRCm39)	T277I	probably damaging	Het
Or5w8	T	A	2: 87,688,095 (GRCm39)	I192K	probably benign	Het
Pcnx2	T	C	8: 126,498,825 (GRCm39)	N1558S	probably benign	Het
Pde10a	A	G	17: 9,147,976 (GRCm39)	E147G	probably damaging	Het
Pgbd5	T	A	8: 125,101,026 (GRCm39)	H410L	probably benign	Het
Plce1	A	C	19: 38,709,440 (GRCm39)	D1098A	probably damaging	Het
Psg25	G	A	7: 18,265,928 (GRCm39)	Q16*	probably null	Het
Psmd9	T	A	5: 123,379,980 (GRCm39)	V133E	probably damaging	Het
Rabgap1	C	T	2: 37,451,911 (GRCm39)	S937F	probably damaging	Het
Rbck1	A	G	2: 152,165,090 (GRCm39)		probably null	Het
Rprd2	C	G	3: 95,726,051 (GRCm39)		probably benign	Het
Scmh1	A	T	4: 120,372,327 (GRCm39)	I377F	possibly damaging	Het
Skor1	G	T	9: 63,053,286 (GRCm39)	R228S	probably damaging	Het
Slc2a4	A	G	11: 69,835,844 (GRCm39)	V335A	probably benign	Het
Slc4a9	G	A	18: 36,661,424 (GRCm39)	W62*	probably null	Het
Styxl2	G	A	1: 165,937,828 (GRCm39)	T77I	probably benign	Het
Taar9	G	T	10: 23,985,305 (GRCm39)	A43D	possibly damaging	Het
Tns4	T	C	11: 98,961,243 (GRCm39)	Y645C	probably damaging	Het
Tpcn2	G	T	7: 144,830,957 (GRCm39)	Y129*	probably null	Het
Trpm3	T	C	19: 22,710,388 (GRCm39)	S278P	possibly damaging	Het
Ttc3	T	C	16: 94,223,156 (GRCm39)	W615R	probably damaging	Het
Ttll5	T	C	12: 85,910,372 (GRCm39)	V207A	probably damaging	Het
Ubr7	G	T	12: 102,736,153 (GRCm39)	M358I	probably damaging	Het
Urb1	C	A	16: 90,574,328 (GRCm39)	V918F	possibly damaging	Het
Vmn2r51	G	A	7: 9,839,432 (GRCm39)	T52I	probably benign	Het
Vmn2r95	A	T	17: 18,672,575 (GRCm39)	I771F	probably benign	Het
Wfdc16	T	C	2: 164,477,350 (GRCm39)	S107G	probably benign	Het
Zmym2	A	G	14: 57,140,226 (GRCm39)	T22A	possibly damaging	Het
Zmym2	G	A	14: 57,151,524 (GRCm39)	G470R	probably damaging	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
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
R4298:Rrs1	UTSW	1	9,616,448 (GRCm39)	missense	possibly damaging	0.82
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'- GACAACCCGGAAGTGATCTTTCCTC -3'
(R):5'- AGACGGTTCAGCTCATTCTTGGC -3'

Sequencing Primer
(F):5'- TGTAGTGGCGATACGTCCC -3'
(R):5'- CGTTCTTTCTTGGCCTGAGT -3'

Posted On

2014-04-24