Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01305:Rrp36'

73427

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rrp36

Ensembl Gene

ENSMUSG00000023971

Gene Name

ribosomal RNA processing 36

Synonyms

BC011248

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

IGL01305

Quality Score

Status

Chromosome

Chromosomal Location

46977249-46985252 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 46979017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024766] [ENSMUST00000043464] [ENSMUST00000133393] [ENSMUST00000145567]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024766

SMART Domains

Protein: ENSMUSP00000024766
Gene: ENSMUSG00000023971

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043464

SMART Domains

Protein: ENSMUSP00000049128
Gene: ENSMUSG00000038545

Domain	Start	End	E-Value	Type
low complexity region	46	54	N/A	INTRINSIC
low complexity region	218	229	N/A	INTRINSIC
low complexity region	315	324	N/A	INTRINSIC
Pfam:Cul7	349	423	5.7e-34	PFAM
low complexity region	462	476	N/A	INTRINSIC
low complexity region	603	618	N/A	INTRINSIC
low complexity region	635	648	N/A	INTRINSIC
APC10	811	973	9.35e-49	SMART
low complexity region	983	993	N/A	INTRINSIC
low complexity region	1063	1074	N/A	INTRINSIC
low complexity region	1301	1318	N/A	INTRINSIC
low complexity region	1335	1370	N/A	INTRINSIC
Blast:Cullin_Nedd8	1550	1633	1e-41	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125949

Predicted Effect

probably benign
Transcript: ENSMUST00000133393

SMART Domains

Protein: ENSMUSP00000119393
Gene: ENSMUSG00000038545

Domain	Start	End	E-Value	Type
low complexity region	17	26	N/A	INTRINSIC
Pfam:Cul7	51	126	8e-34	PFAM
low complexity region	164	178	N/A	INTRINSIC
low complexity region	305	320	N/A	INTRINSIC
low complexity region	337	350	N/A	INTRINSIC
SCOP:d1gqpa_	487	568	1e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145567

SMART Domains

Protein: ENSMUSP00000116133
Gene: ENSMUSG00000038545

Domain	Start	End	E-Value	Type
low complexity region	46	54	N/A	INTRINSIC
SCOP:d1jdha_	63	222	2e-4	SMART
low complexity region	315	324	N/A	INTRINSIC
Pfam:Cul7	349	424	9.5e-34	PFAM
low complexity region	462	476	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181301

Coding Region Coverage

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	A	G	15: 81,797,915 (GRCm39)	E663G	possibly damaging	Het
Adam29	T	A	8: 56,324,879 (GRCm39)	H525L	probably benign	Het
Adamts6	T	A	13: 104,526,590 (GRCm39)	V506E	probably damaging	Het
Ankfy1	G	A	11: 72,655,617 (GRCm39)	E1101K	probably damaging	Het
Arap3	C	T	18: 38,124,380 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,649,503 (GRCm39)	H497Q	probably benign	Het
Caln1	A	G	5: 130,698,392 (GRCm39)	E96G	probably damaging	Het
Cdh23	T	C	10: 60,148,403 (GRCm39)	T2653A	probably damaging	Het
Cdk5rap2	T	A	4: 70,298,472 (GRCm39)	I87F	possibly damaging	Het
Chi3l1	A	G	1: 134,110,554 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,218,978 (GRCm39)		probably benign	Het
Crybg3	T	A	16: 59,349,590 (GRCm39)	H934L	probably damaging	Het
Cyp2d22	G	A	15: 82,255,869 (GRCm39)	T461I	probably damaging	Het
Dhcr24	T	C	4: 106,429,475 (GRCm39)	F183L	possibly damaging	Het
Dnajc13	T	C	9: 104,107,836 (GRCm39)		probably null	Het
Dusp16	A	T	6: 134,695,824 (GRCm39)	S336T	probably benign	Het
F930017D23Rik	T	G	10: 43,480,371 (GRCm39)		noncoding transcript	Het
Fasl	A	G	1: 161,609,407 (GRCm39)	V193A	probably damaging	Het
Fgf5	T	C	5: 98,423,175 (GRCm39)	Y187H	probably damaging	Het
Focad	C	A	4: 88,311,784 (GRCm39)	Q1423K	probably benign	Het
Gabrp	T	C	11: 33,505,055 (GRCm39)	T249A	probably damaging	Het
Galnt5	A	T	2: 57,915,354 (GRCm39)	K637*	probably null	Het
Gm20479	G	A	7: 27,056,812 (GRCm39)	R2525*	probably null	Het
Grm6	A	T	11: 50,750,346 (GRCm39)	D503V	probably benign	Het
Hmg20a	A	T	9: 56,394,934 (GRCm39)	D216V	probably damaging	Het
Lyst	C	T	13: 13,852,641 (GRCm39)	R2214C	probably benign	Het
Micu2	T	A	14: 58,181,082 (GRCm39)	D184V	probably damaging	Het
Nabp2	T	A	10: 128,244,631 (GRCm39)	I52F	probably damaging	Het
Nat8f7	A	T	6: 85,684,570 (GRCm39)	L90*	probably null	Het
Or2z2	A	T	11: 58,346,088 (GRCm39)	M229K	probably damaging	Het
Or4k47	T	C	2: 111,451,546 (GRCm39)	N291S	probably damaging	Het
Pphln1	A	G	15: 93,386,985 (GRCm39)	E273G	probably damaging	Het
Ppil1	C	A	17: 29,482,862 (GRCm39)	V14F	possibly damaging	Het
Relt	A	T	7: 100,500,905 (GRCm39)	L28Q	probably damaging	Het
Rpl21	A	G	5: 146,770,996 (GRCm39)		probably benign	Het
Skic8	C	A	9: 54,635,470 (GRCm39)	V44L	probably damaging	Het
St8sia5	G	A	18: 77,342,358 (GRCm39)	G320D	probably damaging	Het
Taf2	T	C	15: 54,911,670 (GRCm39)	E582G	probably damaging	Het
Tas2r116	T	A	6: 132,832,406 (GRCm39)	N2K	probably benign	Het
Tmem168	A	T	6: 13,583,045 (GRCm39)	V612E	probably damaging	Het
Unc79	A	G	12: 102,968,130 (GRCm39)	S119G	probably damaging	Het
Washc5	T	A	15: 59,227,688 (GRCm39)	K425*	probably null	Het
Wtap	G	T	17: 13,186,782 (GRCm39)	T255K	probably benign	Het
Zfp148	T	C	16: 33,277,313 (GRCm39)	V134A	probably benign	Het

Other mutations in Rrp36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8818:Rrp36	UTSW	17	46,983,336 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-10-07