Mutagenetix > Incidental Mutation

Incidental Mutation 'R4629:Rrp12'

349087

Institutional Source

Beutler Lab

Gene Symbol

Rrp12

Ensembl Gene

ENSMUSG00000035049

Gene Name

ribosomal RNA processing 12 homolog

Synonyms

MMRRC Submission

041894-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R4629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41851290-41884612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41871955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 443 (I443N)

Ref Sequence

ENSEMBL: ENSMUSP00000039853 (fasta)

Gene Model

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

AlphaFold

Q6P5B0

Predicted Effect

probably benign
Transcript: ENSMUST00000038677
AA Change: I443N

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000039853
Gene: ENSMUSG00000035049
AA Change: I443N

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	T	C	9: 114,108,419 (GRCm39)		noncoding transcript	Het
Abca6	T	C	11: 110,121,375 (GRCm39)		probably null	Het
Adam22	A	G	5: 8,282,663 (GRCm39)	S111P	possibly damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alg10b	C	T	15: 90,111,948 (GRCm39)	A264V	probably benign	Het
Angpt1	T	A	15: 42,301,796 (GRCm39)	Y404F	probably benign	Het
Apol7c	A	G	15: 77,410,595 (GRCm39)	F117S	probably damaging	Het
Asic5	T	A	3: 81,913,811 (GRCm39)	Y162N	probably damaging	Het
Cacna2d2	A	T	9: 107,404,521 (GRCm39)	E1104V	probably damaging	Het
Cad	G	A	5: 31,227,639 (GRCm39)	V1263I	probably damaging	Het
Cdc20	T	C	4: 118,290,761 (GRCm39)	E413G	probably damaging	Het
Cfap46	A	T	7: 139,260,843 (GRCm39)	L85Q	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cubn	T	A	2: 13,318,790 (GRCm39)		probably null	Het
Cx3cr1	T	C	9: 119,880,730 (GRCm39)	N224S	probably damaging	Het
Fam98c	T	C	7: 28,854,693 (GRCm39)	T49A	possibly damaging	Het
Fez2	C	T	17: 78,710,183 (GRCm39)	S202N	probably benign	Het
Fras1	A	G	5: 96,924,593 (GRCm39)	N3678S	probably benign	Het
Glyr1	A	G	16: 4,854,907 (GRCm39)	V57A	possibly damaging	Het
Gm5617	T	A	9: 48,407,187 (GRCm39)	L107Q	possibly damaging	Het
Gpnmb	A	G	6: 49,027,994 (GRCm39)	D401G	possibly damaging	Het
Gtpbp6	C	A	5: 110,254,774 (GRCm39)	V100L	possibly damaging	Het
Gucy1a1	A	G	3: 82,004,931 (GRCm39)	V618A	probably damaging	Het
H6pd	A	T	4: 150,080,803 (GRCm39)	M14K	probably benign	Het
Hectd4	A	G	5: 121,435,266 (GRCm39)	M993V	probably benign	Het
Kat14	A	G	2: 144,246,140 (GRCm39)		probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lama1	A	G	17: 68,112,355 (GRCm39)		probably null	Het
Lgr6	T	C	1: 135,032,670 (GRCm39)	Y70C	probably damaging	Het
Lipg	T	A	18: 75,081,107 (GRCm39)	K325*	probably null	Het
Lrrc43	T	C	5: 123,637,583 (GRCm39)	L250P	probably damaging	Het
Lyz1	C	T	10: 117,127,041 (GRCm39)	R65H	probably benign	Het
Marchf10	T	A	11: 105,280,664 (GRCm39)	L540F	probably benign	Het
Maz	G	T	7: 126,624,519 (GRCm39)	H334N	possibly damaging	Het
Myh1	A	G	11: 67,100,119 (GRCm39)	K646R	probably benign	Het
Nf2	A	T	11: 4,798,915 (GRCm39)	V24E	probably damaging	Het
Nup210l	T	C	3: 90,075,182 (GRCm39)	S831P	probably benign	Het
Nup210l	C	T	3: 90,098,181 (GRCm39)	R1378*	probably null	Het
Or13a17	T	A	7: 140,271,291 (GRCm39)	S158T	probably benign	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Palb2	A	C	7: 121,727,189 (GRCm39)	I227S	possibly damaging	Het
Pate3	A	T	9: 35,557,453 (GRCm39)	C68S	probably damaging	Het
Pcdha12	T	A	18: 37,154,926 (GRCm39)	N548K	probably damaging	Het
Prdm10	C	T	9: 31,248,612 (GRCm39)	Q345*	probably null	Het
Ptx4	A	T	17: 25,341,737 (GRCm39)	N71Y	probably damaging	Het
Rab42	C	T	4: 132,030,548 (GRCm39)	R34Q	probably benign	Het
Rergl	A	G	6: 139,478,850 (GRCm39)	V8A	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rpia	A	G	6: 70,743,578 (GRCm39)	M291T	possibly damaging	Het
Rplp0	G	A	5: 115,699,482 (GRCm39)		probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Saxo1	T	C	4: 86,406,064 (GRCm39)	Y45C	probably damaging	Het
Sec24a	A	T	11: 51,612,640 (GRCm39)		probably null	Het
Setdb2	A	G	14: 59,646,808 (GRCm39)	V585A	probably benign	Het
Sik1	T	C	17: 32,068,581 (GRCm39)	E347G	probably benign	Het
Srbd1	T	C	17: 86,428,100 (GRCm39)	T378A	probably damaging	Het
Tacr1	A	G	6: 82,380,861 (GRCm39)	T91A	probably benign	Het
Tas2r135	T	A	6: 42,383,160 (GRCm39)	M233K	probably benign	Het
Tfg	A	T	16: 56,533,039 (GRCm39)	M40K	probably damaging	Het
Tmem35b	C	T	4: 127,022,796 (GRCm39)	P133S	probably benign	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Trpv3	A	T	11: 73,172,615 (GRCm39)	K253N	probably damaging	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Unc13a	A	G	8: 72,106,097 (GRCm39)	M669T	possibly damaging	Het
Vmn1r61	T	A	7: 5,614,249 (GRCm39)	I22F	probably benign	Het
Vmn2r26	A	T	6: 124,038,150 (GRCm39)	Q575L	possibly damaging	Het
Vmn2r81	A	T	10: 79,103,276 (GRCm39)	E156D	probably damaging	Het
Vwa3a	T	A	7: 120,392,598 (GRCm39)	N812K	probably benign	Het
Wasl	T	C	6: 24,637,680 (GRCm39)	R71G	probably damaging	Het
Wdfy4	A	T	14: 32,824,515 (GRCm39)	N1301K	probably damaging	Het
Zfp827	G	A	8: 79,787,011 (GRCm39)	R59Q	probably damaging	Het
Zfp87	A	G	13: 74,520,512 (GRCm39)	C189R	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCTTTCTACGAAGCACCTGG -3'
(R):5'- AGGTATTTCCGCCTGCTAAACC -3'

Sequencing Primer
(F):5'- GGACCGGTGCTTCAAAGAAACTTTAC -3'
(R):5'- AAACCCTGCTGTGCCTG -3'

Posted On

2015-10-08