Mutagenetix > Incidental Mutation

Incidental Mutation 'R9603:Rrp1'

723799

Institutional Source

Beutler Lab

Gene Symbol

Rrp1

Ensembl Gene

ENSMUSG00000061032

Gene Name

ribosomal RNA processing 1 homolog (S. cerevisiae)

Synonyms

Nnp1, NNP-1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9603 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78400384-78413043 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 78404923 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000058785 (fasta)

Gene Model

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

AlphaFold

P56183

Predicted Effect

probably null
Transcript: ENSMUST00000062678

SMART Domains

Protein: ENSMUSP00000058785
Gene: ENSMUSG00000061032

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

probably null
Transcript: ENSMUST00000062678

SMART Domains

Protein: ENSMUSP00000058785
Gene: ENSMUSG00000061032

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

probably null
Transcript: ENSMUST00000062678

SMART Domains

Protein: ENSMUSP00000058785
Gene: ENSMUSG00000061032

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

probably benign
Transcript: ENSMUST00000219374

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	T	C	7: 131,228,914	V359A	probably damaging	Het
Acsl6	A	T	11: 54,335,085	N317I	probably damaging	Het
Adam18	T	A	8: 24,628,131	S590C	possibly damaging	Het
Btrc	G	A	19: 45,471,087	E103K	probably benign	Het
Cars	A	G	7: 143,559,192	M766T	possibly damaging	Het
Cavin4	T	C	4: 48,671,999	V148A	probably benign	Het
Cdkn2d	T	C	9: 21,290,843	D36G	possibly damaging	Het
Cubn	A	T	2: 13,287,699	D3224E	probably damaging	Het
Ebf1	A	G	11: 44,618,179	M1V	probably null	Het
Fcgbp	A	G	7: 28,103,138	D1497G	probably damaging	Het
Foxs1	A	C	2: 152,932,361	C257W	probably damaging	Het
Fstl5	C	T	3: 76,588,953	P341L	probably damaging	Het
Fzd10	G	A	5: 128,601,707	G164S	probably benign	Het
Gm13103	T	C	4: 143,851,697	S176P		Het
Gm5662	T	G	12: 88,271,957	N11T	unknown	Het
Hrh3	C	A	2: 180,100,651	E395*	probably null	Het
Hsf4	G	A	8: 105,272,803	V318M	probably damaging	Het
Il21	T	C	3: 37,227,800	E65G	possibly damaging	Het
Kank1	A	G	19: 25,430,925	D1256G	possibly damaging	Het
Klhl22	A	G	16: 17,777,051	N348S	possibly damaging	Het
Krr1	T	C	10: 111,976,767	I94T	probably damaging	Het
Lpin2	A	G	17: 71,243,415	D724G	probably damaging	Het
Mn1	C	A	5: 111,418,527	P121Q	probably damaging	Het
Mphosph9	A	T	5: 124,324,952	L10*	probably null	Het
Mtus1	A	T	8: 41,083,758	V307E	probably benign	Het
Muc20	A	G	16: 32,794,785	L74P	probably damaging	Het
Nnat	A	G	2: 157,561,781	*113W	probably null	Het
Olfr1306	A	G	2: 111,912,783	V49A	possibly damaging	Het
Olfr38	C	T	6: 42,762,738	Q229*	probably null	Het
Olfr539	G	T	7: 140,667,881	C191F	probably damaging	Het
Olfr711	A	T	7: 106,971,896	Y149*	probably null	Het
Pkm	T	A	9: 59,670,548	V216E	probably damaging	Het
Pla2g12a	G	A	3: 129,881,251	V19I	unknown	Het
Rai14	G	A	15: 10,595,030	Q136*	probably null	Het
Rnf150	T	A	8: 82,990,579	N238K	possibly damaging	Het
Scaf8	T	A	17: 3,195,795	L720M	possibly damaging	Het
Slamf1	G	T	1: 171,798,203	V316L	probably damaging	Het
Slc14a1	C	A	18: 78,109,592	A367S	probably damaging	Het
Slc25a20	T	C	9: 108,672,476	F86L	probably benign	Het
Slc4a5	T	G	6: 83,240,732	S131A	probably benign	Het
Slitrk3	A	G	3: 73,051,316	I41T	probably benign	Het
Sntg1	A	T	1: 8,677,974	L94Q	probably damaging	Het
St18	T	C	1: 6,845,587	C819R	probably damaging	Het
St6galnac3	T	A	3: 153,411,540	D182V	probably benign	Het
Tubgcp2	T	A	7: 140,004,876	T549S	probably benign	Het
Vim	A	T	2: 13,574,337		probably benign	Het
Vmn2r118	C	A	17: 55,592,837	R689I	probably damaging	Het
Zbtb41	A	T	1: 139,447,517	E905V	probably damaging	Het
Zfyve9	A	T	4: 108,642,091	D1284E	possibly damaging	Het

Other mutations in Rrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:Rrp1	APN	10	78405071	utr 3 prime	probably benign
IGL02654:Rrp1	APN	10	78412939	missense	probably benign	0.11
IGL02836:Rrp1	APN	10	78405040	utr 3 prime	probably benign
IGL02861:Rrp1	APN	10	78409222	splice site	probably benign
R2133:Rrp1	UTSW	10	78401894	utr 3 prime	probably benign
R4509:Rrp1	UTSW	10	78412822	missense	possibly damaging	0.85
R5919:Rrp1	UTSW	10	78405588	missense	probably damaging	1.00
R5940:Rrp1	UTSW	10	78405415	missense	probably damaging	1.00
R8798:Rrp1	UTSW	10	78409190	missense	probably damaging	1.00
R9103:Rrp1	UTSW	10	78405042	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATTCTAGGGACCGAGCTGGAAG -3'
(R):5'- TGGTGAAGCATCAGATGGTG -3'

Sequencing Primer
(F):5'- GCTGGAAGCTGGGAGCC -3'
(R):5'- CGATGATGATGGTGAAGCGTC -3'

Posted On

2022-09-12