Mutagenetix > Incidental Mutation

Incidental Mutation 'R5282:Rrp12'

402844

Institutional Source

Beutler Lab

Gene Symbol

Rrp12

Ensembl Gene

ENSMUSG00000035049

Gene Name

ribosomal RNA processing 12 homolog

Synonyms

MMRRC Submission

042867-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R5282 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41851290-41884612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41865029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 764 (Y764C)

Ref Sequence

ENSEMBL: ENSMUSP00000039853 (fasta)

Gene Model

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

AlphaFold

Q6P5B0

Predicted Effect

probably benign
Transcript: ENSMUST00000038677
AA Change: Y764C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039853
Gene: ENSMUSG00000035049
AA Change: Y764C

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	T	A	9: 108,270,439 (GRCm39)	M1K	probably null	Het
2810021J22Rik	T	C	11: 58,771,166 (GRCm39)	L216S	possibly damaging	Het
4933405O20Rik	G	A	7: 50,249,220 (GRCm39)	E85K	possibly damaging	Het
Agrn	A	G	4: 156,257,492 (GRCm39)	F1153L	probably damaging	Het
Cbx8	A	G	11: 118,929,742 (GRCm39)	S284P	probably damaging	Het
Cep128	A	G	12: 91,305,893 (GRCm39)	L170P	probably damaging	Het
Cyp4f14	T	A	17: 33,126,959 (GRCm39)	T324S	probably damaging	Het
Daw1	G	T	1: 83,170,419 (GRCm39)	V244L	probably benign	Het
Eef2kmt	A	G	16: 5,063,222 (GRCm39)	V306A	probably benign	Het
Enah	A	T	1: 181,763,293 (GRCm39)		probably null	Het
Fam171b	T	C	2: 83,683,949 (GRCm39)		probably null	Het
Fsip2	C	T	2: 82,808,925 (GRCm39)	T1748I	possibly damaging	Het
Gabrg2	C	T	11: 41,862,559 (GRCm39)	G175D	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hmcn1	G	T	1: 150,458,047 (GRCm39)	N33K	probably damaging	Het
Incenp	T	A	19: 9,855,770 (GRCm39)	E514V	unknown	Het
Kank3	T	C	17: 34,036,917 (GRCm39)	S74P	probably benign	Het
Lrriq1	G	T	10: 103,051,206 (GRCm39)	N515K	probably benign	Het
Mfsd13b	G	A	7: 120,591,056 (GRCm39)	D266N	probably damaging	Het
Neto1	T	C	18: 86,422,998 (GRCm39)	Y152H	probably damaging	Het
Nub1	C	A	5: 24,900,533 (GRCm39)	F145L	probably benign	Het
Nufip1	T	C	14: 76,351,715 (GRCm39)		probably null	Het
Pard6g	T	A	18: 80,123,116 (GRCm39)	V50E	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Rapgef5	A	C	12: 117,703,379 (GRCm39)	N431T	probably damaging	Het
Rassf9	A	T	10: 102,381,205 (GRCm39)	T196S	probably damaging	Het
Slfn8	T	C	11: 82,908,550 (GRCm39)		probably null	Het
Smox	T	A	2: 131,363,026 (GRCm39)	V265D	probably damaging	Het
Sult1b1	T	C	5: 87,678,510 (GRCm39)	I105V	probably benign	Het
Sycp2	T	C	2: 178,045,554 (GRCm39)	D22G	probably damaging	Het
Tbck	G	A	3: 132,456,977 (GRCm39)	M630I	possibly damaging	Het
Tenm4	G	C	7: 96,486,538 (GRCm39)	G965R	possibly damaging	Het
Trappc10	G	A	10: 78,023,694 (GRCm39)	T1258I	probably damaging	Het
Tssk1	G	A	16: 17,713,123 (GRCm39)	G303S	probably benign	Het
Tstd2	T	C	4: 46,120,461 (GRCm39)	Y313C	probably damaging	Het
Usp42	G	A	5: 143,707,401 (GRCm39)	T260M	probably damaging	Het
Wdr43	T	A	17: 71,955,772 (GRCm39)	V479E	probably damaging	Het
Xpo7	G	A	14: 70,921,171 (GRCm39)	T599I	probably damaging	Het
Zfp553	A	G	7: 126,836,013 (GRCm39)	K523E	probably benign	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
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
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'- ACAGGAAAAGAGTGTAGCCTTTGTTC -3'
(R):5'- AGTAGCGCTACCTTCCTTGC -3'

Sequencing Primer
(F):5'- TGTTCTACAAGACACACCTTGG -3'
(R):5'- GCTTACCATTCGCAAATGCC -3'

Posted On

2016-07-22