Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00093:Rrp12'

700

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: 0.956) question?

Stock #

IGL00093

Quality Score

Status

Chromosome

Chromosomal Location

41851290-41884612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41875533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 270 (M270K)

Ref Sequence

ENSEMBL: ENSMUSP00000039853 (fasta)

Gene Model

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

AlphaFold

Q6P5B0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038677
AA Change: M270K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039853
Gene: ENSMUSG00000035049
AA Change: M270K

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	C	16: 21,472,310 (GRCm39)	D60G	probably damaging	Het
Abca2	T	A	2: 25,335,975 (GRCm39)		probably null	Het
Adamts14	C	T	10: 61,065,455 (GRCm39)	R348H	probably damaging	Het
Aimp2	A	T	5: 143,843,524 (GRCm39)	I22N	probably damaging	Het
Cacna1c	A	G	6: 118,653,405 (GRCm39)		probably benign	Het
Cfap221	A	T	1: 119,860,575 (GRCm39)	Y684N	possibly damaging	Het
Cfap300	A	G	9: 8,022,433 (GRCm39)	V263A	probably benign	Het
Cldn6	T	A	17: 23,900,698 (GRCm39)		probably benign	Het
Copb2	A	G	9: 98,450,130 (GRCm39)	M30V	probably benign	Het
Dcaf17	G	A	2: 70,908,503 (GRCm39)	E243K	probably benign	Het
Dhx35	T	C	2: 158,669,836 (GRCm39)	Y257H	probably damaging	Het
Dnai3	C	T	3: 145,788,759 (GRCm39)	G274E	probably benign	Het
Dzank1	A	T	2: 144,323,645 (GRCm39)	Y600*	probably null	Het
Flvcr1	T	A	1: 190,747,686 (GRCm39)	R201*	probably null	Het
Fstl4	G	A	11: 53,077,102 (GRCm39)	V620I	probably benign	Het
Gm21976	G	A	13: 98,439,069 (GRCm39)	V20M	probably benign	Het
Ifi208	T	C	1: 173,506,604 (GRCm39)		probably null	Het
Kdm4c	T	C	4: 74,263,738 (GRCm39)	V674A	probably benign	Het
Lig1	T	A	7: 13,035,378 (GRCm39)	Y612*	probably null	Het
Marco	A	G	1: 120,413,432 (GRCm39)	V295A	probably benign	Het
Myo5c	T	C	9: 75,150,162 (GRCm39)		probably benign	Het
Or1e34	A	G	11: 73,779,075 (GRCm39)	L41P	probably damaging	Het
Or51a42	T	C	7: 103,708,623 (GRCm39)	Y62C	probably damaging	Het
Or6c217	T	A	10: 129,738,528 (GRCm39)	D17V	possibly damaging	Het
Pkd1l1	A	G	11: 8,911,971 (GRCm39)	M245T	unknown	Het
Pomt1	A	G	2: 32,131,784 (GRCm39)	I158V	probably benign	Het
Ptpn21	A	G	12: 98,646,727 (GRCm39)	W967R	probably damaging	Het
Spats2	A	G	15: 99,078,474 (GRCm39)	E179G	possibly damaging	Het
Tapbp	T	C	17: 34,138,866 (GRCm39)	V11A	probably benign	Het
Tasor	T	G	14: 27,170,163 (GRCm39)	L364R	probably damaging	Het
Tonsl	A	G	15: 76,522,696 (GRCm39)	F185S	possibly damaging	Het
Trpm1	A	G	7: 63,893,198 (GRCm39)	I901V	probably damaging	Het
Tulp2	A	G	7: 45,171,332 (GRCm39)	N371S	probably damaging	Het
Unc5d	A	T	8: 29,209,854 (GRCm39)	V433D	probably damaging	Het
Wasf3	G	A	5: 146,392,461 (GRCm39)	R177Q	probably damaging	Het
Zfp715	A	T	7: 42,949,173 (GRCm39)	H262Q	possibly damaging	Het
Zftraf1	A	G	15: 76,530,738 (GRCm39)	I194T	probably damaging	Het

Other mutations in Rrp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Rrp12	APN	19	41,865,773 (GRCm39)	critical splice donor site	probably null
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

2011-07-12