Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00430:Rrp12'

3182

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rrp12

Ensembl Gene

ENSMUSG00000035049

Gene Name

ribosomal RNA processing 12 homolog

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

IGL00430

Quality Score

Status

Chromosome

Chromosomal Location

41851290-41884612 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 41865773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038677]

AlphaFold

Q6P5B0

Predicted Effect

probably null
Transcript: ENSMUST00000038677

SMART Domains

Protein: ENSMUSP00000039853
Gene: ENSMUSG00000035049

Domain	Start	End	E-Value	Type
low complexity region	164	175	N/A	INTRINSIC
Pfam:NUC173	473	670	1.2e-72	PFAM
SCOP:d1qbkb_	711	1087	2e-6	SMART
low complexity region	1157	1184	N/A	INTRINSIC
low complexity region	1231	1243	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,772,641 (GRCm39)	S17N	probably benign	Het
Atp2a1	C	T	7: 126,046,388 (GRCm39)	W72*	probably null	Het
Baz2b	C	A	2: 59,743,139 (GRCm39)	A1611S	probably benign	Het
Cep290	A	T	10: 100,344,586 (GRCm39)	I475L	probably benign	Het
Cpsf4l	C	T	11: 113,600,044 (GRCm39)		probably benign	Het
Crispld2	A	T	8: 120,760,299 (GRCm39)	R408S	probably damaging	Het
Cyp3a25	A	T	5: 145,930,170 (GRCm39)	M145K	probably damaging	Het
Dexi	A	T	16: 10,360,309 (GRCm39)	D82E	probably benign	Het
Epyc	A	T	10: 97,517,009 (GRCm39)	K282N	probably benign	Het
Ercc6l2	G	T	13: 64,006,133 (GRCm39)	V588F	probably damaging	Het
Galnt14	C	T	17: 73,801,227 (GRCm39)	V532I	probably damaging	Het
Grk1	C	A	8: 13,463,128 (GRCm39)	Y383*	probably null	Het
Gtpbp1	G	T	15: 79,603,337 (GRCm39)	G609W	possibly damaging	Het
Hadha	C	T	5: 30,325,145 (GRCm39)	V682M	possibly damaging	Het
Igdcc3	A	C	9: 65,089,301 (GRCm39)	D499A	probably damaging	Het
Kcna10	T	G	3: 107,102,044 (GRCm39)	V225G	probably damaging	Het
Kcnh4	T	C	11: 100,648,480 (GRCm39)	T75A	possibly damaging	Het
Lama4	A	G	10: 38,921,700 (GRCm39)	E407G	possibly damaging	Het
Mrpl13	T	A	15: 55,403,597 (GRCm39)	K105N	probably damaging	Het
Pcdhb2	A	T	18: 37,429,516 (GRCm39)		probably null	Het
Pck2	C	T	14: 55,781,401 (GRCm39)	A209V	probably benign	Het
Plce1	A	G	19: 38,713,461 (GRCm39)	E1243G	probably damaging	Het
Plekhh2	A	T	17: 84,829,203 (GRCm39)	M25L	probably benign	Het
Rasef	G	A	4: 73,689,662 (GRCm39)	Q117*	probably null	Het
Rbm14	A	G	19: 4,861,454 (GRCm39)	V28A	probably damaging	Het
Rcan2	A	G	17: 44,147,275 (GRCm39)	T38A	probably benign	Het
Rin1	A	G	19: 5,101,404 (GRCm39)	N96S	probably benign	Het
Slco1a6	A	T	6: 142,047,377 (GRCm39)	C404*	probably null	Het
St6galnac3	T	C	3: 153,215,040 (GRCm39)	N38S	probably benign	Het
Top2b	T	A	14: 16,422,692 (GRCm38)	S1376R	probably benign	Het
Trip11	T	C	12: 101,852,406 (GRCm39)	I553V	probably benign	Het
Trip12	T	G	1: 84,741,582 (GRCm39)	H559P	probably damaging	Het
Uggt2	A	T	14: 119,263,841 (GRCm39)	L1063*	probably null	Het
Zmym6	T	A	4: 126,995,742 (GRCm39)	C269*	probably null	Het

Other mutations in Rrp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Rrp12	APN	19	41,875,533 (GRCm39)	missense	possibly damaging	0.94
IGL00496:Rrp12	APN	19	41,866,466 (GRCm39)	critical splice donor site	probably null
IGL00953:Rrp12	APN	19	41,860,231 (GRCm39)	missense	possibly damaging	0.51
IGL01320:Rrp12	APN	19	41,866,375 (GRCm39)	missense	probably damaging	1.00
IGL01479:Rrp12	APN	19	41,853,641 (GRCm39)	missense	probably benign	0.05
IGL01939:Rrp12	APN	19	41,859,334 (GRCm39)	missense	probably damaging	0.99
IGL02147:Rrp12	APN	19	41,874,620 (GRCm39)	missense	probably damaging	1.00
IGL02255:Rrp12	APN	19	41,861,410 (GRCm39)	missense	probably damaging	1.00
IGL02756:Rrp12	APN	19	41,884,500 (GRCm39)	missense	probably benign	0.03
IGL02793:Rrp12	APN	19	41,860,005 (GRCm39)	missense	probably damaging	1.00
IGL03026:Rrp12	APN	19	41,861,436 (GRCm39)	missense	probably damaging	1.00
IGL03202:Rrp12	APN	19	41,857,205 (GRCm39)	splice site	probably null
IGL03393:Rrp12	APN	19	41,860,232 (GRCm39)	missense	possibly damaging	0.91
R0137:Rrp12	UTSW	19	41,862,289 (GRCm39)	missense	probably benign
R0234:Rrp12	UTSW	19	41,860,199 (GRCm39)	missense	probably damaging	1.00
R0234:Rrp12	UTSW	19	41,860,199 (GRCm39)	missense	probably damaging	1.00
R0522:Rrp12	UTSW	19	41,863,144 (GRCm39)	splice site	probably benign
R0616:Rrp12	UTSW	19	41,880,988 (GRCm39)	missense	possibly damaging	0.95
R1509:Rrp12	UTSW	19	41,870,639 (GRCm39)	missense	probably damaging	1.00
R1537:Rrp12	UTSW	19	41,875,242 (GRCm39)	missense	probably damaging	0.97
R1593:Rrp12	UTSW	19	41,851,680 (GRCm39)	missense	probably benign	0.00
R1635:Rrp12	UTSW	19	41,857,224 (GRCm39)	missense	probably benign	0.00
R1642:Rrp12	UTSW	19	41,860,176 (GRCm39)	missense	probably damaging	1.00
R1696:Rrp12	UTSW	19	41,862,188 (GRCm39)	missense	probably damaging	1.00
R1827:Rrp12	UTSW	19	41,868,920 (GRCm39)	missense	possibly damaging	0.95
R1844:Rrp12	UTSW	19	41,866,222 (GRCm39)	critical splice donor site	probably null
R1950:Rrp12	UTSW	19	41,881,029 (GRCm39)	missense	probably damaging	1.00
R2010:Rrp12	UTSW	19	41,861,376 (GRCm39)	missense	probably benign
R2115:Rrp12	UTSW	19	41,879,533 (GRCm39)	missense	probably benign	0.38
R2136:Rrp12	UTSW	19	41,881,038 (GRCm39)	missense	probably damaging	1.00
R2386:Rrp12	UTSW	19	41,859,723 (GRCm39)	missense	probably benign	0.41
R3741:Rrp12	UTSW	19	41,874,167 (GRCm39)	missense	probably damaging	1.00
R4096:Rrp12	UTSW	19	41,875,587 (GRCm39)	missense	probably benign	0.32
R4292:Rrp12	UTSW	19	41,861,344 (GRCm39)	splice site	probably null
R4407:Rrp12	UTSW	19	41,880,990 (GRCm39)	missense	probably damaging	1.00
R4629:Rrp12	UTSW	19	41,871,955 (GRCm39)	missense	probably benign	0.03
R4698:Rrp12	UTSW	19	41,861,481 (GRCm39)	missense	probably benign	0.12
R4702:Rrp12	UTSW	19	41,859,975 (GRCm39)	missense	probably damaging	1.00
R4716:Rrp12	UTSW	19	41,865,867 (GRCm39)	missense	probably damaging	1.00
R4837:Rrp12	UTSW	19	41,865,944 (GRCm39)	splice site	probably null
R5282:Rrp12	UTSW	19	41,865,029 (GRCm39)	missense	probably benign
R5327:Rrp12	UTSW	19	41,881,035 (GRCm39)	missense	probably damaging	1.00
R5621:Rrp12	UTSW	19	41,868,856 (GRCm39)	missense	probably benign
R5762:Rrp12	UTSW	19	41,868,591 (GRCm39)	missense	possibly damaging	0.88
R5947:Rrp12	UTSW	19	41,859,247 (GRCm39)	critical splice donor site	probably null
R6213:Rrp12	UTSW	19	41,857,217 (GRCm39)	missense	probably benign
R6407:Rrp12	UTSW	19	41,872,181 (GRCm39)	missense	probably damaging	0.98
R6980:Rrp12	UTSW	19	41,878,582 (GRCm39)	missense	probably damaging	0.98
R7179:Rrp12	UTSW	19	41,872,217 (GRCm39)	missense	probably benign	0.03
R7186:Rrp12	UTSW	19	41,859,744 (GRCm39)	critical splice acceptor site	probably null
R7194:Rrp12	UTSW	19	41,859,979 (GRCm39)	missense	probably benign
R7206:Rrp12	UTSW	19	41,866,478 (GRCm39)	missense	probably damaging	1.00
R7209:Rrp12	UTSW	19	41,861,388 (GRCm39)	missense	possibly damaging	0.62
R7248:Rrp12	UTSW	19	41,871,877 (GRCm39)	missense	possibly damaging	0.82
R7976:Rrp12	UTSW	19	41,879,548 (GRCm39)	missense	probably benign	0.04
R8075:Rrp12	UTSW	19	41,851,713 (GRCm39)	missense	probably damaging	0.96
R8322:Rrp12	UTSW	19	41,868,658 (GRCm39)	missense	probably benign	0.09
R9010:Rrp12	UTSW	19	41,871,929 (GRCm39)	missense	probably benign	0.11
R9026:Rrp12	UTSW	19	41,860,223 (GRCm39)	missense	probably benign	0.45
R9029:Rrp12	UTSW	19	41,859,718 (GRCm39)	nonsense	probably null
R9096:Rrp12	UTSW	19	41,878,577 (GRCm39)	missense	probably benign	0.11
R9097:Rrp12	UTSW	19	41,878,577 (GRCm39)	missense	probably benign	0.11
R9168:Rrp12	UTSW	19	41,865,603 (GRCm39)	missense	probably benign	0.01
R9709:Rrp12	UTSW	19	41,857,231 (GRCm39)	missense	probably benign
Z1177:Rrp12	UTSW	19	41,854,006 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20