Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03026:Rrp12'

408163

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rrp12

Ensembl Gene

ENSMUSG00000035049

Gene Name

ribosomal RNA processing 12 homolog (S. cerevisiae)

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.947) question?

Stock #

IGL03026

Quality Score

Status

Chromosome

Chromosomal Location

41862852-41896153 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 41872997 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 957 (R957L)

Ref Sequence

ENSEMBL: ENSMUSP00000039853 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000038677
AA Change: R957L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039853
Gene: ENSMUSG00000035049
AA Change: R957L

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,519,690	V154A	possibly damaging	Het
Adcy4	T	C	14: 55,778,010	Y481C	probably damaging	Het
Adcy5	T	C	16: 35,157,042	V315A	probably benign	Het
Atf7ip	G	A	6: 136,605,382	S1130N	possibly damaging	Het
Ctss	A	G	3: 95,538,830	D87G	probably benign	Het
Cwf19l2	A	T	9: 3,428,777	K254N	probably benign	Het
Dnajc10	A	G	2: 80,349,303	D727G	probably damaging	Het
Dsg3	G	A	18: 20,536,972		probably null	Het
Ehmt1	T	C	2: 24,852,734	M478V	probably benign	Het
Enam	A	T	5: 88,503,299	N889I	probably benign	Het
Exo1	G	T	1: 175,908,437	*148L	probably null	Het
Fam133b	G	T	5: 3,559,646		probably benign	Het
Foxj2	G	A	6: 122,838,180	A392T	probably benign	Het
Gbp4	G	T	5: 105,120,000	A460E	possibly damaging	Het
Has3	A	T	8: 106,878,610	I483F	probably benign	Het
Hist1h1b	G	A	13: 21,779,947		probably benign	Het
Irak2	T	A	6: 113,676,651	V260E	probably damaging	Het
Kcnj8	T	C	6: 142,566,473		probably null	Het
Lama5	A	G	2: 180,195,967	V936A	probably benign	Het
Lmo7	C	T	14: 101,929,333		probably benign	Het
Morc3	T	A	16: 93,862,724		probably benign	Het
Muc6	T	C	7: 141,640,147		probably benign	Het
Nkx2-2	T	C	2: 147,185,822	Y66C	probably damaging	Het
Oaz1	G	A	10: 80,828,800		probably benign	Het
Olfr1392	A	T	11: 49,293,458	I46F	probably damaging	Het
Olfr768	G	A	10: 129,093,188	A262V	possibly damaging	Het
Olfr808	A	T	10: 129,768,041	M182L	probably benign	Het
Pkd2	A	T	5: 104,494,887		probably benign	Het
Plcb4	A	G	2: 135,950,429		probably benign	Het
Ralgapa2	C	A	2: 146,460,775		probably benign	Het
Rfx7	T	C	9: 72,619,685	S1386P	probably damaging	Het
Ric1	T	G	19: 29,599,833	W1046G	probably benign	Het
Scn7a	T	C	2: 66,676,098	I1482M	probably damaging	Het
Sema3b	T	C	9: 107,602,063	N236S	probably damaging	Het
Skint6	T	A	4: 112,991,244		probably null	Het
Slfn5	T	C	11: 82,956,561	Y91H	probably benign	Het
Sptbn2	T	A	19: 4,724,233		probably null	Het
Szt2	A	G	4: 118,391,849	L546P	probably benign	Het
Tas1r3	A	G	4: 155,861,843		probably benign	Het
Trim75	A	G	8: 64,983,786	V4A	probably benign	Het
Usp19	T	C	9: 108,493,145	L56P	probably damaging	Het
Vmn1r181	T	G	7: 23,984,575	I155S	possibly damaging	Het
Vmn2r43	G	T	7: 8,255,097	D372E	probably benign	Het
Vstm2b	C	A	7: 40,902,521	S99*	probably null	Het
Wdr11	A	G	7: 129,624,336	D735G	probably damaging	Het
Wee2	T	A	6: 40,461,981	M346K	probably benign	Het
Zap70	A	G	1: 36,779,717	K371R	possibly damaging	Het
Zfp990	A	T	4: 145,537,110	H226L	possibly damaging	Het

Other mutations in Rrp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Rrp12	APN	19	41887094	missense	possibly damaging	0.94
IGL00430:Rrp12	APN	19	41877334	critical splice donor site	probably null
IGL00496:Rrp12	APN	19	41878027	critical splice donor site	probably null
IGL00953:Rrp12	APN	19	41871792	missense	possibly damaging	0.51
IGL01320:Rrp12	APN	19	41877936	missense	probably damaging	1.00
IGL01479:Rrp12	APN	19	41865202	missense	probably benign	0.05
IGL01939:Rrp12	APN	19	41870895	missense	probably damaging	0.99
IGL02147:Rrp12	APN	19	41886181	missense	probably damaging	1.00
IGL02255:Rrp12	APN	19	41872971	missense	probably damaging	1.00
IGL02756:Rrp12	APN	19	41896061	missense	probably benign	0.03
IGL02793:Rrp12	APN	19	41871566	missense	probably damaging	1.00
IGL03202:Rrp12	APN	19	41868766	splice site	probably null
IGL03393:Rrp12	APN	19	41871793	missense	possibly damaging	0.91
R0137:Rrp12	UTSW	19	41873850	missense	probably benign
R0234:Rrp12	UTSW	19	41871760	missense	probably damaging	1.00
R0234:Rrp12	UTSW	19	41871760	missense	probably damaging	1.00
R0522:Rrp12	UTSW	19	41874705	splice site	probably benign
R0616:Rrp12	UTSW	19	41892549	missense	possibly damaging	0.95
R1509:Rrp12	UTSW	19	41882200	missense	probably damaging	1.00
R1537:Rrp12	UTSW	19	41886803	missense	probably damaging	0.97
R1593:Rrp12	UTSW	19	41863241	missense	probably benign	0.00
R1635:Rrp12	UTSW	19	41868785	missense	probably benign	0.00
R1642:Rrp12	UTSW	19	41871737	missense	probably damaging	1.00
R1696:Rrp12	UTSW	19	41873749	missense	probably damaging	1.00
R1827:Rrp12	UTSW	19	41880481	missense	possibly damaging	0.95
R1844:Rrp12	UTSW	19	41877783	critical splice donor site	probably null
R1950:Rrp12	UTSW	19	41892590	missense	probably damaging	1.00
R2010:Rrp12	UTSW	19	41872937	missense	probably benign
R2115:Rrp12	UTSW	19	41891094	missense	probably benign	0.38
R2136:Rrp12	UTSW	19	41892599	missense	probably damaging	1.00
R2386:Rrp12	UTSW	19	41871284	missense	probably benign	0.41
R3741:Rrp12	UTSW	19	41885728	missense	probably damaging	1.00
R4096:Rrp12	UTSW	19	41887148	missense	probably benign	0.32
R4292:Rrp12	UTSW	19	41872905	splice site	probably null
R4407:Rrp12	UTSW	19	41892551	missense	probably damaging	1.00
R4629:Rrp12	UTSW	19	41883516	missense	probably benign	0.03
R4698:Rrp12	UTSW	19	41873042	missense	probably benign	0.12
R4702:Rrp12	UTSW	19	41871536	missense	probably damaging	1.00
R4716:Rrp12	UTSW	19	41877428	missense	probably damaging	1.00
R4837:Rrp12	UTSW	19	41877505	splice site	probably null
R5282:Rrp12	UTSW	19	41876590	missense	probably benign
R5327:Rrp12	UTSW	19	41892596	missense	probably damaging	1.00
R5621:Rrp12	UTSW	19	41880417	missense	probably benign
R5762:Rrp12	UTSW	19	41880152	missense	possibly damaging	0.88
R5947:Rrp12	UTSW	19	41870808	critical splice donor site	probably null
R6213:Rrp12	UTSW	19	41868778	missense	probably benign
R6407:Rrp12	UTSW	19	41883742	missense	probably damaging	0.98
R6980:Rrp12	UTSW	19	41890143	missense	probably damaging	0.98
R7179:Rrp12	UTSW	19	41883778	missense	probably benign	0.03
R7186:Rrp12	UTSW	19	41871305	critical splice acceptor site	probably null
R7194:Rrp12	UTSW	19	41871540	missense	probably benign
R7206:Rrp12	UTSW	19	41878039	missense	probably damaging	1.00
R7209:Rrp12	UTSW	19	41872949	missense	possibly damaging	0.62
R7248:Rrp12	UTSW	19	41883438	missense	possibly damaging	0.82
R7976:Rrp12	UTSW	19	41891109	missense	probably benign	0.04
R8075:Rrp12	UTSW	19	41863274	missense	probably damaging	0.96
R8322:Rrp12	UTSW	19	41880219	missense	probably benign	0.09
Z1177:Rrp12	UTSW	19	41865567	missense	probably damaging	1.00

Posted On

2016-08-02