Mutagenetix > Incidental Mutation

Incidental Mutation 'R2338:Rrs1'

332082

Institutional Source

Beutler Lab

Gene Symbol

Rrs1

Ensembl Gene

ENSMUSG00000061024

Gene Name

ribosome biogenesis regulator 1

Synonyms

D1Ertd701e, 5730466A07Rik

MMRRC Submission

040324-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2338 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

9615633-9617680 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 9616026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116627 (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 damaging
Transcript: ENSMUST00000072079
AA Change: P93Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000071955
Gene: ENSMUSG00000061024
AA Change: P93Q

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 null
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

0.5563

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.5%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	A	G	14: 35,817,109 (GRCm39)	D53G	probably benign	Het
A1cf	C	T	19: 31,909,945 (GRCm39)	P330S	probably benign	Het
Acta2	A	G	19: 34,225,941 (GRCm39)		probably benign	Het
Actrt3	A	G	3: 30,651,985 (GRCm39)	*370R	probably null	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Btbd8	T	C	5: 107,658,440 (GRCm39)	L1158S	probably damaging	Het
Cadps2	C	G	6: 23,838,977 (GRCm39)		probably benign	Het
Camsap3	C	T	8: 3,656,808 (GRCm39)	R1048C	probably damaging	Het
Cdkl2	C	T	5: 92,181,538 (GRCm39)	A148T	possibly damaging	Het
Dab2	T	A	15: 6,464,733 (GRCm39)	I395K	possibly damaging	Het
Dclk2	A	G	3: 86,706,324 (GRCm39)	F589S	probably damaging	Het
Ddx60	T	C	8: 62,465,470 (GRCm39)	S1376P	possibly damaging	Het
Eprs1	T	C	1: 185,148,005 (GRCm39)	F1256L	probably damaging	Het
Etaa1	A	T	11: 17,895,605 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,202,727 (GRCm39)	T116A	possibly damaging	Het
Fem1al	C	A	11: 29,773,718 (GRCm39)	A580S	probably benign	Het
Fmnl3	T	C	15: 99,268,108 (GRCm39)	T26A	probably benign	Het
Foxp1	A	G	6: 98,980,254 (GRCm39)	V158A	possibly damaging	Het
G6pd2	T	A	5: 61,967,351 (GRCm39)	D375E	probably benign	Het
Gne	C	T	4: 44,042,196 (GRCm39)	A460T	probably damaging	Het
Gprin1	T	A	13: 54,886,238 (GRCm39)		probably null	Het
Hecw2	T	C	1: 53,943,581 (GRCm39)	M949V	possibly damaging	Het
Herc1	G	A	9: 66,336,251 (GRCm39)	V1599M	possibly damaging	Het
Hk2	A	C	6: 82,708,096 (GRCm39)	N628K	probably damaging	Het
Hmcn1	T	C	1: 150,498,685 (GRCm39)	T4065A	possibly damaging	Het
Ipo8	T	A	6: 148,691,321 (GRCm39)	Q683L	probably benign	Het
Krt81	A	G	15: 101,361,217 (GRCm39)	I121T	probably benign	Het
Lamb2	T	C	9: 108,359,340 (GRCm39)	L322P	probably benign	Het
Lilrb4a	A	G	10: 51,367,796 (GRCm39)	M113V	probably benign	Het
Mnat1	G	A	12: 73,265,917 (GRCm39)		probably null	Het
Mucl1	T	A	15: 103,783,964 (GRCm39)	T68S	possibly damaging	Het
Npnt	G	T	3: 132,597,170 (GRCm39)	D461E	probably damaging	Het
Nrp1	A	T	8: 129,224,385 (GRCm39)	Q716L	probably benign	Het
Or11g25	A	G	14: 50,723,097 (GRCm39)	T61A	possibly damaging	Het
Or12k5	T	G	2: 36,895,159 (GRCm39)	S156R	probably damaging	Het
Or51b6b	A	T	7: 103,309,617 (GRCm39)	I280N	possibly damaging	Het
Podxl2	T	C	6: 88,826,178 (GRCm39)	Q376R	probably damaging	Het
Pudp	T	C	18: 50,701,646 (GRCm39)	D29G	probably benign	Het
S1pr3	T	C	13: 51,573,614 (GRCm39)	I265T	possibly damaging	Het
Scgb1b2	A	T	7: 30,991,038 (GRCm39)	C23*	probably null	Het
Spag8	G	T	4: 43,652,826 (GRCm39)	R212S	probably benign	Het
Tacc2	A	G	7: 130,335,299 (GRCm39)		probably null	Het
Trmt1l	C	T	1: 151,304,710 (GRCm39)		probably benign	Het
Trpa1	A	T	1: 14,954,469 (GRCm39)	L810Q	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ugt3a1	T	A	15: 9,292,059 (GRCm39)		probably benign	Het
Vmn2r23	T	G	6: 123,681,384 (GRCm39)	I97M	possibly damaging	Het
Vmn2r65	A	T	7: 84,590,051 (GRCm39)	F622I	possibly damaging	Het
Vps13a	C	T	19: 16,697,817 (GRCm39)	G766E	probably damaging	Het
Wnk1	T	C	6: 119,946,495 (GRCm39)	T553A	probably benign	Het
Xirp2	T	A	2: 67,341,114 (GRCm39)	D1118E	probably damaging	Het
Zfyve9	A	C	4: 108,517,811 (GRCm39)	D461E	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
R1598:Rrs1	UTSW	1	9,616,137 (GRCm39)	missense	probably benign	0.15
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'- TGCTGTAGTGGCGATACGTC -3'
(R):5'- ATTCTTTAGTGTCATCCCGGG -3'

Sequencing Primer
(F):5'- CATCACGGTGCACAAGGAGC -3'
(R):5'- CTTCTTCTTGGGACGGAT -3'

Posted On

2015-07-27