Mutagenetix > Incidental Mutation

Incidental Mutation 'R6135:Rrp9'

488291

Institutional Source

Beutler Lab

Gene Symbol

Rrp9

Ensembl Gene

ENSMUSG00000041506

Gene Name

ribosomal RNA processing 9, U3 small nucleolar RNA binding protein

Synonyms

Rnu3ip2, D9Wsu10e, 55kDa, U3-55k

MMRRC Submission

044282-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R6135 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106354508-106362614 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106360221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 210 (D210N)

Ref Sequence

ENSEMBL: ENSMUSP00000038580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047721] [ENSMUST00000185336]

AlphaFold

Q91WM3

Predicted Effect

probably damaging
Transcript: ENSMUST00000047721
AA Change: D210N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038580
Gene: ENSMUSG00000041506
AA Change: D210N

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
low complexity region	47	57	N/A	INTRINSIC
coiled coil region	61	102	N/A	INTRINSIC
WD40	135	174	1.15e-4	SMART
WD40	177	227	3.09e-5	SMART
WD40	230	269	2.42e-7	SMART
WD40	272	311	9.24e-4	SMART
WD40	313	351	2.4e-2	SMART
WD40	354	404	4.6e0	SMART
Blast:WD40	412	451	1e-15	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156796

Predicted Effect

probably benign
Transcript: ENSMUST00000185336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217303

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012]

Allele List at MGI

All alleles(3) : Targeted(1) Gene trapped(2)

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,402,335 (GRCm39)	E95G	probably damaging	Het
Abca4	C	T	3: 121,932,096 (GRCm39)	T250I	possibly damaging	Het
Ahi1	G	A	10: 20,845,020 (GRCm39)	R375H	probably benign	Het
Aimp1	T	C	3: 132,377,844 (GRCm39)	K174E	probably benign	Het
Aire	A	G	10: 77,878,801 (GRCm39)	L82P	probably damaging	Het
Akap13	T	A	7: 75,259,656 (GRCm39)	V760D	possibly damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Carf	C	T	1: 60,187,122 (GRCm39)	S540F	probably damaging	Het
Ccdc171	T	A	4: 83,473,087 (GRCm39)	M172K	probably benign	Het
Chpt1	A	T	10: 88,318,145 (GRCm39)	V199E	possibly damaging	Het
Cldn16	G	A	16: 26,293,018 (GRCm39)	D65N	possibly damaging	Het
Cnga3	G	A	1: 37,271,318 (GRCm39)		probably benign	Het
Col14a1	A	G	15: 55,244,246 (GRCm39)	T440A	unknown	Het
Creb3l3	A	G	10: 80,921,552 (GRCm39)	I331T	probably benign	Het
Cul9	T	C	17: 46,832,379 (GRCm39)	T1410A	probably benign	Het
Dnm1	T	A	2: 32,223,075 (GRCm39)		probably null	Het
Fhl5	A	T	4: 25,214,716 (GRCm39)	Y20*	probably null	Het
Fignl1	T	C	11: 11,752,557 (GRCm39)	D166G	probably benign	Het
Ghr	T	C	15: 3,355,447 (GRCm39)	I279V	probably benign	Het
Gm1979	T	G	5: 26,205,298 (GRCm39)	S180R	probably damaging	Het
Hydin	T	C	8: 111,189,292 (GRCm39)	V1232A	possibly damaging	Het
Ifnar1	A	G	16: 91,298,508 (GRCm39)		probably null	Het
Inpp5d	A	G	1: 87,548,119 (GRCm39)		probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnh2	T	A	5: 24,526,791 (GRCm39)	S1002C	probably damaging	Het
Krt87	T	A	15: 101,385,415 (GRCm39)	E319V	probably damaging	Het
Lbp	A	G	2: 158,159,469 (GRCm39)	I201V	probably benign	Het
Man1a2	G	A	3: 100,592,248 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,188,326 (GRCm39)	T996A	possibly damaging	Het
Nat10	A	G	2: 103,573,661 (GRCm39)	L319P	probably damaging	Het
Nelfa	A	G	5: 34,056,620 (GRCm39)		probably null	Het
Or5b97	A	C	19: 12,878,803 (GRCm39)	Y114D	probably damaging	Het
Pcdha11	T	A	18: 37,138,870 (GRCm39)	N166K	probably damaging	Het
Pcdha6	C	A	18: 37,102,269 (GRCm39)	N487K	probably damaging	Het
Pcsk2	A	G	2: 143,415,460 (GRCm39)	D91G	possibly damaging	Het
Pigp	A	G	16: 94,171,065 (GRCm39)	F22L	probably benign	Het
Pnpla8	A	C	12: 44,329,670 (GRCm39)	N74T	probably benign	Het
Ppargc1b	T	C	18: 61,448,980 (GRCm39)	K114R	probably damaging	Het
Ppfia2	A	G	10: 106,693,430 (GRCm39)	D645G	probably damaging	Het
Rnf213	G	A	11: 119,332,854 (GRCm39)	V2688I	probably benign	Het
Rnf43	A	G	11: 87,622,951 (GRCm39)	H557R	probably damaging	Het
Rp1l1	C	T	14: 64,267,545 (GRCm39)	P1044S	probably damaging	Het
Scin	G	T	12: 40,129,807 (GRCm39)	Q329K	possibly damaging	Het
Scn7a	T	A	2: 66,534,244 (GRCm39)	H477L	probably benign	Het
Slc26a8	A	T	17: 28,888,914 (GRCm39)	M195K	probably benign	Het
Spata13	A	G	14: 60,993,877 (GRCm39)	K1110E	probably damaging	Het
Spata24	T	A	18: 35,793,503 (GRCm39)	E103V	probably damaging	Het
Srek1	T	C	13: 103,910,894 (GRCm39)	N25S	probably damaging	Het
Strada	T	C	11: 106,064,140 (GRCm39)	Y59C	probably damaging	Het
Tnrc6c	T	C	11: 117,626,831 (GRCm39)	W1143R	probably damaging	Het
Trip12	A	T	1: 84,738,559 (GRCm39)	D765E	probably benign	Het
Ttbk2	G	A	2: 120,580,798 (GRCm39)	R444C	probably damaging	Het
Ush2a	T	A	1: 188,644,303 (GRCm39)	I4555N	possibly damaging	Het
Vcan	C	T	13: 89,838,045 (GRCm39)	E2500K	probably benign	Het
Vps16	A	G	2: 130,280,573 (GRCm39)	Y200C	possibly damaging	Het
Wdfy4	T	A	14: 32,693,668 (GRCm39)	H2719L	probably damaging	Het
Zfhx2	T	C	14: 55,311,653 (GRCm39)	D347G	possibly damaging	Het
Zfp653	G	A	9: 21,969,558 (GRCm39)	T236I	probably damaging	Het
Zscan4-ps1	A	T	7: 10,799,913 (GRCm39)	H325Q	probably benign	Het

Other mutations in Rrp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02383:Rrp9	APN	9	106,362,471 (GRCm39)	missense	probably damaging	0.99
IGL02540:Rrp9	APN	9	106,360,746 (GRCm39)	unclassified	probably benign
IGL02581:Rrp9	APN	9	106,360,827 (GRCm39)	missense	probably damaging	1.00
P0005:Rrp9	UTSW	9	106,358,376 (GRCm39)	missense	probably benign
R1757:Rrp9	UTSW	9	106,360,203 (GRCm39)	missense	probably damaging	0.99
R5585:Rrp9	UTSW	9	106,362,525 (GRCm39)	missense	probably benign	0.35
R6437:Rrp9	UTSW	9	106,360,150 (GRCm39)	missense	probably benign	0.34
R6575:Rrp9	UTSW	9	106,360,778 (GRCm39)	missense	probably damaging	0.99
R7878:Rrp9	UTSW	9	106,358,516 (GRCm39)	missense	probably damaging	1.00
R8732:Rrp9	UTSW	9	106,360,388 (GRCm39)	missense	probably benign	0.15
R8745:Rrp9	UTSW	9	106,361,657 (GRCm39)	missense	possibly damaging	0.82
R9454:Rrp9	UTSW	9	106,360,840 (GRCm39)	missense	possibly damaging	0.69
Z1177:Rrp9	UTSW	9	106,360,999 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACAAAGTGACAAGTACAGATGCTC -3'
(R):5'- TGTCCCGTGAAGGTGTACAG -3'

Sequencing Primer
(F):5'- AGATGCTCACAGCTGCTGAG -3'
(R):5'- TGTACAGGTGCTGGCAGC -3'

Posted On

2017-10-10