Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02836:Rrp1'

361647

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rrp1

Ensembl Gene

ENSMUSG00000061032

Gene Name

ribosomal RNA processing 1

Synonyms

Nnp1, NNP-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02836

Quality Score

Status

Chromosome

Chromosomal Location

78236218-78248877 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to T at 78240874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062678] [ENSMUST00000219374]

AlphaFold

P56183

Predicted Effect

unknown
Transcript: ENSMUST00000062678
AA Change: D288E

SMART Domains

Protein: ENSMUSP00000058785
Gene: ENSMUSG00000061032
AA Change: D288E

Domain	Start	End	E-Value	Type
Pfam:Nop52	11	219	5.3e-74	PFAM
low complexity region	240	307	N/A	INTRINSIC
low complexity region	406	425	N/A	INTRINSIC
low complexity region	431	441	N/A	INTRINSIC
low complexity region	447	454	N/A	INTRINSIC
low complexity region	458	486	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183764

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219141

Predicted Effect

probably benign
Transcript: ENSMUST00000219374

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219406

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219901

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,349,782 (GRCm39)	N346K	possibly damaging	Het
Abca15	A	G	7: 119,987,439 (GRCm39)	M1242V	probably benign	Het
Abca6	T	A	11: 110,139,374 (GRCm39)	E33D	probably damaging	Het
Abca8a	T	C	11: 109,961,177 (GRCm39)	K582E	possibly damaging	Het
Abcb6	A	G	1: 75,154,646 (GRCm39)	L263P	probably damaging	Het
Adamts2	A	C	11: 50,678,106 (GRCm39)	E795A	probably damaging	Het
Avil	T	A	10: 126,844,864 (GRCm39)	I292N	probably damaging	Het
Cd300ld2	T	C	11: 114,904,576 (GRCm39)	D97G	probably benign	Het
Cfh	A	C	1: 140,030,137 (GRCm39)	I912R	probably damaging	Het
Cyp26c1	A	T	19: 37,675,604 (GRCm39)	Q156L	probably benign	Het
Dhx57	T	C	17: 80,574,978 (GRCm39)	I614V	probably damaging	Het
Dip2c	T	A	13: 9,660,826 (GRCm39)	S896T	probably damaging	Het
Dmtn	G	T	14: 70,853,518 (GRCm39)	P97Q	probably damaging	Het
Dock6	A	T	9: 21,713,160 (GRCm39)	V1931E	probably damaging	Het
Dpep2	C	A	8: 106,717,227 (GRCm39)		probably null	Het
Dsg1c	T	A	18: 20,400,986 (GRCm39)	L163Q	probably benign	Het
Esyt3	A	G	9: 99,202,960 (GRCm39)		probably benign	Het
Fcgbp	T	A	7: 27,816,783 (GRCm39)	I2415N	possibly damaging	Het
Fpr-rs6	T	C	17: 20,403,307 (GRCm39)	D18G	probably benign	Het
Fras1	T	C	5: 96,682,725 (GRCm39)	V74A	possibly damaging	Het
Frem3	T	C	8: 81,341,010 (GRCm39)	V1101A	probably benign	Het
Fut8	T	A	12: 77,496,987 (GRCm39)	V399E	probably benign	Het
Galntl5	G	T	5: 25,391,237 (GRCm39)	K45N	probably benign	Het
Gbe1	A	G	16: 70,357,983 (GRCm39)	Y669C	possibly damaging	Het
Gcnt1	T	C	19: 17,307,493 (GRCm39)	I77M	probably benign	Het
Itprid1	T	A	6: 55,875,075 (GRCm39)	W342R	probably damaging	Het
Mark2	A	G	19: 7,255,405 (GRCm39)		probably null	Het
Muc2	A	T	7: 141,300,450 (GRCm39)		probably benign	Het
Nacc2	C	T	2: 25,980,329 (GRCm39)	V36I	probably damaging	Het
Nphp1	T	C	2: 127,611,543 (GRCm39)	I268V	probably benign	Het
Oosp3	A	G	19: 11,678,332 (GRCm39)	I5V	probably benign	Het
Or9m1	T	G	2: 87,733,724 (GRCm39)	T99P	possibly damaging	Het
Pex7	A	G	10: 19,769,990 (GRCm39)		probably benign	Het
Prr14l	T	C	5: 32,988,440 (GRCm39)	K352E	probably benign	Het
Rheb	T	A	5: 25,008,709 (GRCm39)	I170F	probably benign	Het
Rpgrip1	A	G	14: 52,382,714 (GRCm39)		probably null	Het
Rps2	T	A	17: 24,939,650 (GRCm39)	L107Q	probably damaging	Het
Rtcb	A	T	10: 85,779,806 (GRCm39)	V288D	possibly damaging	Het
Sec14l3	T	C	11: 4,020,084 (GRCm39)	F174L	probably benign	Het
Slc28a1	G	A	7: 80,775,909 (GRCm39)	V202M	probably damaging	Het
Slc44a3	A	T	3: 121,325,366 (GRCm39)	C32S	probably damaging	Het
Syne1	G	A	10: 5,359,875 (GRCm39)		probably benign	Het
Synrg	C	A	11: 83,892,804 (GRCm39)		probably benign	Het
Tmem219	A	T	7: 126,488,121 (GRCm39)	F265I	probably benign	Het
Tmem94	T	C	11: 115,683,765 (GRCm39)	I726T	probably damaging	Het
Trim37	T	C	11: 87,087,785 (GRCm39)	M632T	probably benign	Het
Trpm6	A	T	19: 18,790,846 (GRCm39)	Q627L	probably damaging	Het
Uvrag	A	G	7: 98,628,984 (GRCm39)	V361A	possibly damaging	Het
Yipf3	C	A	17: 46,562,520 (GRCm39)	N308K	possibly damaging	Het
Zfp438	A	G	18: 5,245,427 (GRCm39)		probably benign	Het
Zmiz1	T	A	14: 25,657,166 (GRCm39)		probably benign	Het
Zranb3	A	G	1: 127,888,562 (GRCm39)	V841A	probably benign	Het

Other mutations in Rrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:Rrp1	APN	10	78,240,905 (GRCm39)	utr 3 prime	probably benign
IGL02654:Rrp1	APN	10	78,248,773 (GRCm39)	missense	probably benign	0.11
IGL02861:Rrp1	APN	10	78,245,056 (GRCm39)	splice site	probably benign
R2133:Rrp1	UTSW	10	78,237,728 (GRCm39)	utr 3 prime	probably benign
R4509:Rrp1	UTSW	10	78,248,656 (GRCm39)	missense	possibly damaging	0.85
R5919:Rrp1	UTSW	10	78,241,422 (GRCm39)	missense	probably damaging	1.00
R5940:Rrp1	UTSW	10	78,241,249 (GRCm39)	missense	probably damaging	1.00
R8798:Rrp1	UTSW	10	78,245,024 (GRCm39)	missense	probably damaging	1.00
R9103:Rrp1	UTSW	10	78,240,876 (GRCm39)	missense	unknown
R9603:Rrp1	UTSW	10	78,240,757 (GRCm39)	critical splice donor site	probably null

Posted On

2015-12-18