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: 0.960) question?

Stock #

IGL02192

Quality Score

Status

Chromosome

Chromosomal Location

34495457-34530799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34529217 bp (GRCm39)

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: 28,597,825 (GRCm39)	M545K	possibly damaging	Het
Adamtsl1	A	G	4: 86,146,253 (GRCm39)	E303G	probably damaging	Het
Anxa13	A	T	15: 58,220,628 (GRCm39)		noncoding transcript	Het
Ap2b1	C	T	11: 83,237,592 (GRCm39)	T552I	possibly damaging	Het
Cars1	T	C	7: 143,125,325 (GRCm39)	S388G	probably damaging	Het
Cdh18	A	T	15: 23,460,402 (GRCm39)	D544V	probably damaging	Het
Chat	T	C	14: 32,145,279 (GRCm39)	R377G	possibly damaging	Het
Col14a1	A	G	15: 55,225,798 (GRCm39)	T154A	unknown	Het
Col9a1	C	T	1: 24,261,068 (GRCm39)	P311S	probably damaging	Het
Cpsf3	G	T	12: 21,360,194 (GRCm39)		probably benign	Het
Cpsf3	G	T	12: 21,360,197 (GRCm39)		probably null	Het
Dock8	T	C	19: 25,055,569 (GRCm39)		probably null	Het
Eml6	A	G	11: 29,755,743 (GRCm39)	I837T	probably benign	Het
Epb41	T	C	4: 131,657,028 (GRCm39)	T792A	probably damaging	Het
Exph5	A	T	9: 53,287,625 (GRCm39)	R1569*	probably null	Het
F13b	A	T	1: 139,445,071 (GRCm39)	T574S	probably damaging	Het
Fam184b	G	T	5: 45,695,062 (GRCm39)	D727E	probably benign	Het
Fhip1a	A	G	3: 85,580,633 (GRCm39)	L524P	possibly damaging	Het
Fhod3	T	C	18: 25,189,415 (GRCm39)	L619P	probably damaging	Het
Fsd1l	A	G	4: 53,647,754 (GRCm39)	I66V	probably benign	Het
Fv1	A	G	4: 147,954,712 (GRCm39)	D426G	possibly damaging	Het
Gm3371	A	T	14: 44,641,235 (GRCm39)		probably benign	Het
Hnf1a	A	T	5: 115,098,177 (GRCm39)	S142T	probably damaging	Het
Itgb3	A	G	11: 104,534,765 (GRCm39)	I541V	probably benign	Het
Itgbl1	G	T	14: 124,081,338 (GRCm39)	C239F	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Larp1b	G	T	3: 40,921,929 (GRCm39)	S116I	probably benign	Het
Lmtk3	A	G	7: 45,443,933 (GRCm39)		probably benign	Het
Mapk10	T	C	5: 103,137,513 (GRCm39)	I235V	probably damaging	Het
Mctp1	C	T	13: 76,879,887 (GRCm39)		probably benign	Het
Megf8	G	A	7: 25,053,285 (GRCm39)	D1819N	probably damaging	Het
Muc6	T	C	7: 141,217,717 (GRCm39)	T2254A	possibly damaging	Het
Nbr1	T	A	11: 101,460,417 (GRCm39)	S444T	probably damaging	Het
Ncor2	A	T	5: 125,101,301 (GRCm39)	D1956E	probably damaging	Het
Ndufaf5	T	C	2: 140,030,663 (GRCm39)	V183A	probably benign	Het
Nfasc	G	A	1: 132,498,219 (GRCm39)	T1155M	probably damaging	Het
Nol12	A	G	15: 78,821,374 (GRCm39)	E78G	probably damaging	Het
Npy5r	T	A	8: 67,133,998 (GRCm39)	H265L	probably benign	Het
Or10j2	T	A	1: 173,098,417 (GRCm39)	L225H	probably damaging	Het
Or8k16	G	A	2: 85,520,472 (GRCm39)	G233D	possibly damaging	Het
Ppil3	T	C	1: 58,477,547 (GRCm39)	I66V	probably damaging	Het
Prl4a1	C	A	13: 28,202,554 (GRCm39)	T43K	possibly damaging	Het
Prop1	A	G	11: 50,844,113 (GRCm39)		probably benign	Het
Qrsl1	A	T	10: 43,761,010 (GRCm39)	I218N	probably damaging	Het
Rbm22	T	A	18: 60,697,484 (GRCm39)	M63K	possibly damaging	Het
Rictor	T	C	15: 6,815,895 (GRCm39)	S1056P	probably benign	Het
Rps6kb2	T	C	19: 4,207,587 (GRCm39)	T388A	probably damaging	Het
Slc7a5	A	G	8: 122,613,129 (GRCm39)		probably benign	Het
Sp100	A	T	1: 85,635,722 (GRCm39)	D509V	probably damaging	Het
Spata18	G	T	5: 73,829,861 (GRCm39)		probably null	Het
Sspo	C	A	6: 48,436,502 (GRCm39)	T1254K	possibly damaging	Het
Stk19	A	G	17: 35,051,134 (GRCm39)		probably benign	Het
Taar8b	T	A	10: 23,967,262 (GRCm39)	I311F	probably damaging	Het
Themis2	C	A	4: 132,510,658 (GRCm39)		probably null	Het
Tll2	T	C	19: 41,074,702 (GRCm39)	Y937C	possibly damaging	Het
Trim34a	T	A	7: 103,896,939 (GRCm39)	M1K	probably null	Het
Usp50	G	A	2: 126,619,958 (GRCm39)	T118I	possibly damaging	Het
Vps13d	G	A	4: 144,875,428 (GRCm39)	S1693F	probably benign	Het
Vps16	T	A	2: 130,282,852 (GRCm39)	I467N	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Pop1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Pop1	APN	15	34,508,875 (GRCm39)	missense	probably benign	0.00
IGL02680:Pop1	APN	15	34,502,619 (GRCm39)	missense	probably damaging	0.99
IGL02958:Pop1	APN	15	34,530,509 (GRCm39)	missense	probably damaging	0.99
H8562:Pop1	UTSW	15	34,530,358 (GRCm39)	missense	probably benign	0.00
PIT4802001:Pop1	UTSW	15	34,529,229 (GRCm39)	missense	probably benign	0.00
R0244:Pop1	UTSW	15	34,516,037 (GRCm39)	nonsense	probably null
R0281:Pop1	UTSW	15	34,530,004 (GRCm39)	splice site	probably null
R0453:Pop1	UTSW	15	34,526,352 (GRCm39)	missense	possibly damaging	0.82
R0579:Pop1	UTSW	15	34,510,115 (GRCm39)	missense	possibly damaging	0.68
R1054:Pop1	UTSW	15	34,509,955 (GRCm39)	missense	probably benign	0.30
R1501:Pop1	UTSW	15	34,510,503 (GRCm39)	missense	probably benign	0.01
R1614:Pop1	UTSW	15	34,530,356 (GRCm39)	missense	possibly damaging	0.46
R1994:Pop1	UTSW	15	34,530,617 (GRCm39)	missense	probably damaging	1.00
R2084:Pop1	UTSW	15	34,508,744 (GRCm39)	splice site	probably benign
R4020:Pop1	UTSW	15	34,508,926 (GRCm39)	missense	probably benign	0.01
R4550:Pop1	UTSW	15	34,529,082 (GRCm39)	missense	probably damaging	1.00
R4579:Pop1	UTSW	15	34,515,970 (GRCm39)	intron	probably benign
R5672:Pop1	UTSW	15	34,530,325 (GRCm39)	missense	possibly damaging	0.63
R6139:Pop1	UTSW	15	34,529,204 (GRCm39)	missense	probably benign	0.26
R6161:Pop1	UTSW	15	34,526,456 (GRCm39)	missense	probably damaging	1.00
R6821:Pop1	UTSW	15	34,508,785 (GRCm39)	missense	possibly damaging	0.86
R7053:Pop1	UTSW	15	34,530,421 (GRCm39)	missense	probably benign	0.01
R7195:Pop1	UTSW	15	34,510,525 (GRCm39)	missense	probably damaging	0.97
R7543:Pop1	UTSW	15	34,530,593 (GRCm39)	missense	probably damaging	1.00
R7571:Pop1	UTSW	15	34,529,093 (GRCm39)	missense	probably null	1.00
R7587:Pop1	UTSW	15	34,502,559 (GRCm39)	missense	probably damaging	0.97
R8401:Pop1	UTSW	15	34,508,755 (GRCm39)	missense	probably damaging	1.00
R8406:Pop1	UTSW	15	34,529,316 (GRCm39)	missense	probably benign
R8707:Pop1	UTSW	15	34,529,349 (GRCm39)	missense	probably benign	0.02
R9044:Pop1	UTSW	15	34,530,554 (GRCm39)	missense	possibly damaging	0.94
R9066:Pop1	UTSW	15	34,516,060 (GRCm39)	missense	possibly damaging	0.68
R9236:Pop1	UTSW	15	34,499,558 (GRCm39)	missense	probably damaging	0.98
R9600:Pop1	UTSW	15	34,512,881 (GRCm39)	missense	probably benign	0.06
R9711:Pop1	UTSW	15	34,530,227 (GRCm39)	missense	probably benign
RF001:Pop1	UTSW	15	34,502,583 (GRCm39)	missense	probably damaging	1.00
RF002:Pop1	UTSW	15	34,502,583 (GRCm39)	missense	probably damaging	1.00
Z1088:Pop1	UTSW	15	34,499,465 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16