Mutagenetix > Incidental Mutation

Incidental Mutation 'R8818:Rrp36'

672894

Institutional Source

Beutler Lab

Gene Symbol

Rrp36

Ensembl Gene

ENSMUSG00000023971

Gene Name

ribosomal RNA processing 36

Synonyms

BC011248

MMRRC Submission

068651-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R8818 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46977249-46985252 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46983336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 93 (S93T)

Ref Sequence

ENSEMBL: ENSMUSP00000024766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024766] [ENSMUST00000071841] [ENSMUST00000165007]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000024766
AA Change: S93T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024766
Gene: ENSMUSG00000023971
AA Change: S93T

Domain	Start	End	E-Value	Type
Pfam:DUF947	55	219	7.6e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071841

SMART Domains

Protein: ENSMUSP00000071743
Gene: ENSMUSG00000063576

Domain	Start	End	E-Value	Type
Pfam:Kelch_1	13	63	1.6e-8	PFAM
Pfam:Kelch_2	13	63	2.2e-9	PFAM
Pfam:Kelch_4	13	65	3.8e-8	PFAM
Pfam:Kelch_6	13	67	9.6e-11	PFAM
Pfam:Kelch_5	73	113	3.1e-8	PFAM
Pfam:Kelch_1	76	117	1.9e-7	PFAM
Pfam:Kelch_6	76	121	1.7e-9	PFAM
Pfam:Kelch_2	77	121	2.1e-8	PFAM
Pfam:Kelch_4	77	125	4.6e-11	PFAM
Pfam:Kelch_3	86	136	1.3e-12	PFAM
Pfam:Kelch_1	127	172	1.5e-10	PFAM
Pfam:Kelch_6	127	173	2e-10	PFAM
Pfam:Kelch_2	127	174	4.7e-14	PFAM
Pfam:Kelch_4	127	177	1.3e-10	PFAM
Pfam:Kelch_2	179	231	2.4e-8	PFAM
Pfam:Kelch_1	180	233	5.8e-9	PFAM
Pfam:Kelch_3	189	247	7.3e-8	PFAM
Pfam:Kelch_5	235	276	1.2e-11	PFAM
Pfam:Kelch_1	238	284	2.7e-8	PFAM
Pfam:Kelch_6	238	293	2.4e-12	PFAM
Pfam:Kelch_3	248	299	4.2e-10	PFAM
low complexity region	322	333	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165007

SMART Domains

Protein: ENSMUSP00000128271
Gene: ENSMUSG00000063576

Domain	Start	End	E-Value	Type
Pfam:Kelch_1	13	63	9.9e-10	PFAM
Pfam:Kelch_2	13	63	2.2e-9	PFAM
Pfam:Kelch_6	13	66	7.5e-11	PFAM
Pfam:Kelch_4	13	71	1.4e-8	PFAM
Pfam:Kelch_5	73	113	3e-8	PFAM
Pfam:Kelch_1	76	118	2.6e-8	PFAM
Pfam:Kelch_6	76	121	1.1e-10	PFAM
Pfam:Kelch_4	76	126	2e-11	PFAM
Pfam:Kelch_2	77	121	2.1e-8	PFAM
Pfam:Kelch_3	86	136	7.7e-12	PFAM
Pfam:Kelch_1	127	170	1.2e-8	PFAM
Pfam:Kelch_2	127	174	4.7e-14	PFAM
Pfam:Kelch_4	127	177	1.7e-7	PFAM
Pfam:Kelch_2	179	231	2.4e-8	PFAM
Pfam:Kelch_6	179	239	2.5e-9	PFAM
Pfam:Kelch_1	180	232	3.4e-8	PFAM
Pfam:Kelch_3	189	247	5.7e-8	PFAM
Pfam:Kelch_5	235	276	4.3e-10	PFAM
Pfam:Kelch_1	238	285	9.3e-10	PFAM
Pfam:Kelch_4	238	291	9.9e-8	PFAM
Pfam:Kelch_6	238	293	2.5e-12	PFAM
Pfam:Kelch_3	248	299	1.1e-9	PFAM
low complexity region	322	333	N/A	INTRINSIC

Meta Mutation Damage Score

0.5612

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RRP36 functions at an early stage in the processing of 35S preribosomal RNA into the mature 18S species (Gerus et al., 2010 [PubMed 20038530]).[supplied by OMIM, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	T	7: 119,815,524 (GRCm39)	M257I	probably benign	Het
Adam23	T	C	1: 63,584,627 (GRCm39)	V345A	probably damaging	Het
Anxa6	T	G	11: 54,902,578 (GRCm39)	N52T	possibly damaging	Het
Arhgef15	G	A	11: 68,841,938 (GRCm39)	H496Y	probably damaging	Het
Atp2a3	A	G	11: 72,872,765 (GRCm39)	E771G	probably damaging	Het
B3gnt5	A	G	16: 19,588,347 (GRCm39)	T189A	possibly damaging	Het
Becn1	A	T	11: 101,186,230 (GRCm39)	S125T	probably damaging	Het
Bltp1	T	G	3: 37,050,697 (GRCm39)	M3011R	possibly damaging	Het
Ccdc180	A	G	4: 45,900,484 (GRCm39)	M283V	probably benign	Het
Cdh17	T	C	4: 11,771,323 (GRCm39)	F35S	probably damaging	Het
Clcn1	T	A	6: 42,282,477 (GRCm39)	I515N	probably damaging	Het
Cyp4f17	A	G	17: 32,743,068 (GRCm39)	Y247C	probably damaging	Het
Dcp1a	T	A	14: 30,240,899 (GRCm39)	H236Q	possibly damaging	Het
Dnah11	T	A	12: 117,874,764 (GRCm39)	N4034Y	probably damaging	Het
Dsg1a	A	G	18: 20,473,599 (GRCm39)	I891V	possibly damaging	Het
Eid3	A	G	10: 82,703,441 (GRCm39)	N301D	probably damaging	Het
Fbrs	C	A	7: 127,078,694 (GRCm39)	D108E	unknown	Het
Fbxw14	A	C	9: 109,116,071 (GRCm39)		probably benign	Het
Fzd8	A	G	18: 9,214,474 (GRCm39)	T519A	probably benign	Het
Gldc	C	G	19: 30,078,212 (GRCm39)	M928I	probably benign	Het
Gpr3	C	A	4: 132,938,538 (GRCm39)	V45L	possibly damaging	Het
Gramd1b	A	T	9: 40,215,780 (GRCm39)	I690K	probably benign	Het
Grhl2	T	A	15: 37,270,912 (GRCm39)	D33E	probably damaging	Het
Kcnj4	C	A	15: 79,369,920 (GRCm39)	R20L	probably damaging	Het
Klhl5	A	G	5: 65,305,989 (GRCm39)	I319V	probably benign	Het
Lars2	A	T	9: 123,221,892 (GRCm39)	E135D	possibly damaging	Het
Map9	T	A	3: 82,291,270 (GRCm39)	Y602N	possibly damaging	Het
Mphosph9	A	T	5: 124,463,027 (GRCm39)	L6*	probably null	Het
Naa35	C	T	13: 59,748,761 (GRCm39)	T131M	probably damaging	Het
Nucb2	T	A	7: 116,121,136 (GRCm39)	L22Q	possibly damaging	Het
Or8g26	A	G	9: 39,096,062 (GRCm39)	Y193C	probably damaging	Het
Or8k28	C	A	2: 86,286,078 (GRCm39)	C179F	probably damaging	Het
Pcdhb6	C	T	18: 37,468,837 (GRCm39)	T586I	probably benign	Het
Ppcs	A	T	4: 119,279,330 (GRCm39)	L74Q	probably damaging	Het
Ppp6r3	A	T	19: 3,517,216 (GRCm39)	V677D	probably benign	Het
Psg27	C	T	7: 18,294,337 (GRCm39)	G357S	probably damaging	Het
Ptgdr2	A	G	19: 10,918,380 (GRCm39)	N299S	probably damaging	Het
Relb	T	A	7: 19,353,762 (GRCm39)	I39F	probably damaging	Het
Ripor2	T	A	13: 24,901,651 (GRCm39)	S907R	possibly damaging	Het
Rnf170	T	G	8: 26,629,043 (GRCm39)	D172E	probably benign	Het
Rnf31	C	A	14: 55,832,396 (GRCm39)	Q273K	probably benign	Het
Rsad1	A	T	11: 94,439,100 (GRCm39)	V120D	probably benign	Het
Ryr3	C	T	2: 112,661,441 (GRCm39)	A1870T	probably damaging	Het
Serpina10	T	G	12: 103,595,063 (GRCm39)	D52A	probably benign	Het
Slc47a1	A	G	11: 61,261,055 (GRCm39)	I115T	probably benign	Het
Spag17	T	A	3: 99,920,543 (GRCm39)	M426K	probably benign	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Sptbn4	T	G	7: 27,063,592 (GRCm39)	E2283A	possibly damaging	Het
Top3a	A	G	11: 60,633,877 (GRCm39)	C740R	probably damaging	Het
Tpgs2	A	T	18: 25,291,365 (GRCm39)	V33E	probably damaging	Het
Treh	T	C	9: 44,592,823 (GRCm39)	I116T	probably damaging	Het
Trpm3	A	T	19: 22,955,952 (GRCm39)	N1138I	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Vamp9	A	T	5: 100,089,094 (GRCm39)	N120Y	probably damaging	Het
Zswim9	G	T	7: 12,994,456 (GRCm39)	Q567K	probably benign	Het

Other mutations in Rrp36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Rrp36	APN	17	46,979,017 (GRCm39)	unclassified	probably benign
R1085:Rrp36	UTSW	17	46,978,878 (GRCm39)	makesense	probably null
R1328:Rrp36	UTSW	17	46,983,705 (GRCm39)	nonsense	probably null
R1470:Rrp36	UTSW	17	46,983,306 (GRCm39)	nonsense	probably null
R1470:Rrp36	UTSW	17	46,983,306 (GRCm39)	nonsense	probably null
R1672:Rrp36	UTSW	17	46,983,340 (GRCm39)	missense	probably damaging	0.99
R1920:Rrp36	UTSW	17	46,983,671 (GRCm39)	missense	possibly damaging	0.78
R1922:Rrp36	UTSW	17	46,983,671 (GRCm39)	missense	possibly damaging	0.78
R2215:Rrp36	UTSW	17	46,983,746 (GRCm39)	missense	possibly damaging	0.92
R3930:Rrp36	UTSW	17	46,983,732 (GRCm39)	missense	probably damaging	0.98
R4280:Rrp36	UTSW	17	46,983,302 (GRCm39)	missense	probably damaging	1.00
R4747:Rrp36	UTSW	17	46,980,893 (GRCm39)	missense	possibly damaging	0.87
R5809:Rrp36	UTSW	17	46,978,932 (GRCm39)	missense	probably damaging	1.00
R6875:Rrp36	UTSW	17	46,983,297 (GRCm39)	missense	probably benign	0.43
R9180:Rrp36	UTSW	17	46,978,980 (GRCm39)	missense	possibly damaging	0.94
R9275:Rrp36	UTSW	17	46,983,306 (GRCm39)	nonsense	probably null
R9542:Rrp36	UTSW	17	46,983,492 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- TCCTATCCCACAGGCGTTAG -3'
(R):5'- TGTCAGCTAAAGTCCGGGTG -3'

Sequencing Primer
(F):5'- TCCCACAGGCGTTAGTAATG -3'
(R):5'- TAAAGTCCGGGTGCCATTC -3'

Posted On

2021-04-30