Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02192:Pop1'

283934

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pop1

Ensembl Gene

ENSMUSG00000022325

Gene Name

processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae)

Synonyms

4932434G09Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL02192

Quality Score

Status

Chromosome

Chromosomal Location

34495304-34530648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34529071 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 749 (E749G)

Ref Sequence

ENSEMBL: ENSMUSP00000078037 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052290] [ENSMUST00000079028]

AlphaFold

Q8K205

Predicted Effect

probably benign
Transcript: ENSMUST00000052290
AA Change: E779G

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

SMART Domains

Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: E779G

Domain	Start	End	E-Value	Type
Pfam:POP1	107	190	6.2e-21	PFAM
Pfam:POP1	179	257	2.5e-23	PFAM
low complexity region	382	387	N/A	INTRINSIC
Pfam:POPLD	647	738	1.4e-30	PFAM
low complexity region	931	940	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079028
AA Change: E749G

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: E749G

Domain	Start	End	E-Value	Type
Pfam:POP1	107	258	1e-46	PFAM
low complexity region	382	387	N/A	INTRINSIC
Pfam:POPLD	617	708	1.2e-34	PFAM
low complexity region	901	910	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122658

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226504

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,898,400	M545K	possibly damaging	Het
Adamtsl1	A	G	4: 86,228,016	E303G	probably damaging	Het
Anxa13	A	T	15: 58,348,780		noncoding transcript	Het
Ap2b1	C	T	11: 83,346,766	T552I	possibly damaging	Het
Cars	T	C	7: 143,571,588	S388G	probably damaging	Het
Cdh18	A	T	15: 23,460,316	D544V	probably damaging	Het
Chat	T	C	14: 32,423,322	R377G	possibly damaging	Het
Col14a1	A	G	15: 55,362,402	T154A	unknown	Het
Col9a1	C	T	1: 24,221,987	P311S	probably damaging	Het
Cpsf3	G	T	12: 21,310,193		probably benign	Het
Cpsf3	G	T	12: 21,310,196		probably null	Het
Dock8	T	C	19: 25,078,205		probably null	Het
Eml6	A	G	11: 29,805,743	I837T	probably benign	Het
Epb41	T	C	4: 131,929,717	T792A	probably damaging	Het
Exph5	A	T	9: 53,376,325	R1569*	probably null	Het
F13b	A	T	1: 139,517,333	T574S	probably damaging	Het
Fam160a1	A	G	3: 85,673,326	L524P	possibly damaging	Het
Fam184b	G	T	5: 45,537,720	D727E	probably benign	Het
Fhod3	T	C	18: 25,056,358	L619P	probably damaging	Het
Fsd1l	A	G	4: 53,647,754	I66V	probably benign	Het
Fv1	A	G	4: 147,870,255	D426G	possibly damaging	Het
Gm3371	A	T	14: 44,403,778		probably benign	Het
Hnf1a	A	T	5: 114,960,118	S142T	probably damaging	Het
Itgb3	A	G	11: 104,643,939	I541V	probably benign	Het
Itgbl1	G	T	14: 123,843,926	C239F	probably damaging	Het
Krt26	C	T	11: 99,333,645	R349Q	probably benign	Het
Larp1b	G	T	3: 40,967,494	S116I	probably benign	Het
Lmtk3	A	G	7: 45,794,509		probably benign	Het
Mapk10	T	C	5: 102,989,647	I235V	probably damaging	Het
Mctp1	C	T	13: 76,731,768		probably benign	Het
Megf8	G	A	7: 25,353,860	D1819N	probably damaging	Het
Muc6	T	C	7: 141,637,804	T2254A	possibly damaging	Het
Nbr1	T	A	11: 101,569,591	S444T	probably damaging	Het
Ncor2	A	T	5: 125,024,237	D1956E	probably damaging	Het
Ndufaf5	T	C	2: 140,188,743	V183A	probably benign	Het
Nfasc	G	A	1: 132,570,481	T1155M	probably damaging	Het
Nol12	A	G	15: 78,937,174	E78G	probably damaging	Het
Npy5r	T	A	8: 66,681,346	H265L	probably benign	Het
Olfr1008	G	A	2: 85,690,128	G233D	possibly damaging	Het
Olfr418	T	A	1: 173,270,850	L225H	probably damaging	Het
Ppil3	T	C	1: 58,438,388	I66V	probably damaging	Het
Prl4a1	C	A	13: 28,018,571	T43K	possibly damaging	Het
Prop1	A	G	11: 50,953,286		probably benign	Het
Qrsl1	A	T	10: 43,885,014	I218N	probably damaging	Het
Rbm22	T	A	18: 60,564,412	M63K	possibly damaging	Het
Rictor	T	C	15: 6,786,414	S1056P	probably benign	Het
Rps6kb2	T	C	19: 4,157,588	T388A	probably damaging	Het
Slc7a5	A	G	8: 121,886,390		probably benign	Het
Sp100	A	T	1: 85,708,001	D509V	probably damaging	Het
Spata18	G	T	5: 73,672,518		probably null	Het
Sspo	C	A	6: 48,459,568	T1254K	possibly damaging	Het
Stk19	A	G	17: 34,832,158		probably benign	Het
Taar8b	T	A	10: 24,091,364	I311F	probably damaging	Het
Themis2	C	A	4: 132,783,347		probably null	Het
Tll2	T	C	19: 41,086,263	Y937C	possibly damaging	Het
Trim34a	T	A	7: 104,247,732	M1K	probably null	Het
Usp50	G	A	2: 126,778,038	T118I	possibly damaging	Het
Vps13d	G	A	4: 145,148,858	S1693F	probably benign	Het
Vps16	T	A	2: 130,440,932	I467N	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Pop1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Pop1	APN	15	34508729	missense	probably benign	0.00
IGL02680:Pop1	APN	15	34502473	missense	probably damaging	0.99
IGL02958:Pop1	APN	15	34530363	missense	probably damaging	0.99
H8562:Pop1	UTSW	15	34530212	missense	probably benign	0.00
PIT4802001:Pop1	UTSW	15	34529083	missense	probably benign	0.00
R0244:Pop1	UTSW	15	34515891	nonsense	probably null
R0281:Pop1	UTSW	15	34529858	splice site	probably null
R0453:Pop1	UTSW	15	34526206	missense	possibly damaging	0.82
R0579:Pop1	UTSW	15	34509969	missense	possibly damaging	0.68
R1054:Pop1	UTSW	15	34509809	missense	probably benign	0.30
R1501:Pop1	UTSW	15	34510357	missense	probably benign	0.01
R1614:Pop1	UTSW	15	34530210	missense	possibly damaging	0.46
R1994:Pop1	UTSW	15	34530471	missense	probably damaging	1.00
R2084:Pop1	UTSW	15	34508598	splice site	probably benign
R4020:Pop1	UTSW	15	34508780	missense	probably benign	0.01
R4550:Pop1	UTSW	15	34528936	missense	probably damaging	1.00
R4579:Pop1	UTSW	15	34515824	intron	probably benign
R5672:Pop1	UTSW	15	34530179	missense	possibly damaging	0.63
R6139:Pop1	UTSW	15	34529058	missense	probably benign	0.26
R6161:Pop1	UTSW	15	34526310	missense	probably damaging	1.00
R6821:Pop1	UTSW	15	34508639	missense	possibly damaging	0.86
R7053:Pop1	UTSW	15	34530275	missense	probably benign	0.01
R7195:Pop1	UTSW	15	34510379	missense	probably damaging	0.97
R7543:Pop1	UTSW	15	34530447	missense	probably damaging	1.00
R7571:Pop1	UTSW	15	34528947	missense	probably null	1.00
R7587:Pop1	UTSW	15	34502413	missense	probably damaging	0.97
R8401:Pop1	UTSW	15	34508609	missense	probably damaging	1.00
R8406:Pop1	UTSW	15	34529170	missense	probably benign
R8707:Pop1	UTSW	15	34529203	missense	probably benign	0.02
R9044:Pop1	UTSW	15	34530408	missense	possibly damaging	0.94
R9066:Pop1	UTSW	15	34515914	missense	possibly damaging	0.68
R9236:Pop1	UTSW	15	34499412	missense	probably damaging	0.98
R9600:Pop1	UTSW	15	34512735	missense	probably benign	0.06
R9711:Pop1	UTSW	15	34530081	missense	probably benign
RF001:Pop1	UTSW	15	34502437	missense	probably damaging	1.00
RF002:Pop1	UTSW	15	34502437	missense	probably damaging	1.00
Z1088:Pop1	UTSW	15	34499319	missense	probably damaging	1.00

Posted On

2015-04-16