Mutagenetix > Incidental Mutation

Incidental Mutation 'R1222:Rrs1'

152731

Institutional Source

Beutler Lab

Gene Symbol

Rrs1

Ensembl Gene

ENSMUSG00000061024

Gene Name

ribosome biogenesis regulator 1

Synonyms

D1Ertd701e, 5730466A07Rik

MMRRC Submission

039291-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1222 (G1)

Quality Score

129

Status

Validated

Chromosome

Chromosomal Location

9615633-9617680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9616080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 111 (L111P)

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: L111P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000071955
Gene: ENSMUSG00000061024
AA Change: L111P

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

0.2578

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	A	3: 59,784,682 (GRCm39)	L385*	probably null	Het
Abca9	T	C	11: 110,035,890 (GRCm39)		probably benign	Het
Abl1	T	C	2: 31,691,006 (GRCm39)	S842P	probably benign	Het
Agrn	C	A	4: 156,261,842 (GRCm39)	V483L	probably damaging	Het
Ankrd13a	T	A	5: 114,938,824 (GRCm39)	C365*	probably null	Het
Ap2b1	T	C	11: 83,237,564 (GRCm39)	S543P	probably benign	Het
Atic	C	T	1: 71,598,438 (GRCm39)	T67I	probably damaging	Het
Bhmt1b	A	G	18: 87,775,458 (GRCm39)	K327R	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cux1	C	T	5: 136,304,003 (GRCm39)	R1391Q	probably benign	Het
Cyp2a4	T	C	7: 26,008,013 (GRCm39)	V140A	possibly damaging	Het
Dlgap3	A	T	4: 127,088,406 (GRCm39)	M1L	probably null	Het
Dnah3	T	C	7: 119,689,899 (GRCm39)	D2G	probably benign	Het
Erbb3	A	C	10: 128,407,534 (GRCm39)	V938G	probably damaging	Het
Fam13a	C	T	6: 58,912,707 (GRCm39)		probably benign	Het
Gata2	G	A	6: 88,177,323 (GRCm39)	V118I	probably benign	Het
Gm2663	T	C	6: 40,972,975 (GRCm39)	I211V	probably benign	Het
Izumo3	T	A	4: 92,033,284 (GRCm39)	N104I	probably damaging	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Mctp2	T	A	7: 71,908,887 (GRCm39)	H142L	probably benign	Het
Mmp10	T	C	9: 7,505,682 (GRCm39)		probably benign	Het
Mroh8	G	A	2: 157,083,774 (GRCm39)		probably benign	Het
Mylk	T	C	16: 34,681,022 (GRCm39)	V94A	probably benign	Het
Nol6	A	T	4: 41,120,760 (GRCm39)	N396K	probably benign	Het
Nr4a2	A	T	2: 56,998,336 (GRCm39)	N543K	probably damaging	Het
Nynrin	T	C	14: 56,100,998 (GRCm39)	S263P	probably benign	Het
Or10ag53	G	T	2: 87,082,766 (GRCm39)	G162C	probably benign	Het
Or1e35	A	T	11: 73,798,240 (GRCm39)	L26H	probably damaging	Het
Or5p68	T	A	7: 107,945,313 (GRCm39)	I292F	probably damaging	Het
Or7d10	G	A	9: 19,832,344 (GRCm39)	V280I	possibly damaging	Het
Pkhd1	T	A	1: 20,637,680 (GRCm39)	R368S	probably benign	Het
Plekhg4	G	A	8: 106,105,742 (GRCm39)	A736T	probably benign	Het
Plxna2	A	G	1: 194,482,957 (GRCm39)	D1550G	probably damaging	Het
Qrfpr	C	A	3: 36,234,244 (GRCm39)	G366W	probably damaging	Het
Qser1	C	A	2: 104,607,776 (GRCm39)	A1471S	probably damaging	Het
Rars1	A	T	11: 35,700,567 (GRCm39)	Y505N	probably damaging	Het
Reln	T	A	5: 22,191,953 (GRCm39)	T1496S	probably null	Het
Selplg	C	T	5: 113,957,434 (GRCm39)	V291M	possibly damaging	Het
Serpinb1c	T	A	13: 33,080,934 (GRCm39)	T50S	possibly damaging	Het
Slc4a5	A	G	6: 83,257,114 (GRCm39)	K640E	probably damaging	Het
Szt2	A	T	4: 118,262,656 (GRCm39)	H40Q	possibly damaging	Het
Taar4	C	T	10: 23,837,230 (GRCm39)	T280I	probably benign	Het
Tdo2	A	G	3: 81,868,775 (GRCm39)		probably null	Het
Tpp1	T	C	7: 105,395,948 (GRCm39)	N527S	probably benign	Het
Trim43c	A	T	9: 88,725,131 (GRCm39)	T218S	possibly damaging	Het
Trim45	G	T	3: 100,834,614 (GRCm39)	M432I	probably benign	Het
Ubr4	T	C	4: 139,115,782 (GRCm39)		probably null	Het
Vat1l	T	C	8: 115,009,101 (GRCm39)		probably benign	Het
Xpo7	A	T	14: 70,904,524 (GRCm39)	H1037Q	possibly damaging	Het
Zmiz1	T	C	14: 25,658,520 (GRCm39)		probably benign	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
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
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'- GGCACCTCGATCAGCCATTCTTTAG -3'

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

Posted On

2014-01-29