Mutagenetix > Incidental Mutation

Incidental Mutation 'R7587:Pop1'

587229

Institutional Source

Beutler Lab

Gene Symbol

Pop1

Ensembl Gene

ENSMUSG00000022325

Gene Name

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

Synonyms

4932434G09Rik

MMRRC Submission

045712-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R7587 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34495457-34530799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34502559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 82 (K82M)

Ref Sequence

ENSEMBL: ENSMUSP00000052654 (fasta)

Gene Model

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

AlphaFold

Q8K205

Predicted Effect

probably damaging
Transcript: ENSMUST00000052290
AA Change: K82M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: K82M

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 damaging
Transcript: ENSMUST00000079028
AA Change: K82M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: K82M

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,585,736 (GRCm39)	T131A	probably damaging	Het
Asah1	A	T	8: 41,827,578 (GRCm39)	V15D	probably benign	Het
Asic1	A	C	15: 99,593,471 (GRCm39)	Q276P	probably damaging	Het
Atl2	A	T	17: 80,172,496 (GRCm39)	V158E	probably benign	Het
Atrn	T	A	2: 130,822,034 (GRCm39)	I909N	probably damaging	Het
BC034090	A	G	1: 155,093,232 (GRCm39)	V742A	probably damaging	Het
Capzb	T	A	4: 138,989,334 (GRCm39)	D85E	possibly damaging	Het
Cdh20	T	C	1: 104,869,004 (GRCm39)	F165S	probably damaging	Het
Cfap44	A	G	16: 44,224,469 (GRCm39)	E59G	probably benign	Het
Clpsl2	G	A	17: 28,768,515 (GRCm39)	V10I	probably benign	Het
D630003M21Rik	T	A	2: 158,042,976 (GRCm39)	S855C	probably damaging	Het
D630003M21Rik	T	C	2: 158,038,308 (GRCm39)	Y1046C	probably benign	Het
D6Wsu163e	A	G	6: 126,932,859 (GRCm39)	I361V	probably benign	Het
Dchs2	A	G	3: 83,211,822 (GRCm39)	I1874V	probably benign	Het
Dennd2a	T	G	6: 39,460,069 (GRCm39)	K679Q	probably damaging	Het
Dio2	A	G	12: 90,696,334 (GRCm39)	V218A	probably benign	Het
Gpr107	A	T	2: 31,058,838 (GRCm39)	K109N	probably benign	Het
Gpr108	C	T	17: 57,543,732 (GRCm39)	R448Q	probably damaging	Het
Gucy2c	A	G	6: 136,681,288 (GRCm39)	V932A	probably damaging	Het
Kcnj8	T	C	6: 142,512,065 (GRCm39)	T181A	probably damaging	Het
Kdm3b	A	G	18: 34,930,080 (GRCm39)		probably null	Het
Lipc	A	G	9: 70,726,206 (GRCm39)	Y168H	probably damaging	Het
Lipi	C	T	16: 75,347,103 (GRCm39)	V439M	probably benign	Het
Lpp	A	T	16: 24,581,029 (GRCm39)		probably null	Het
Lrp1b	T	G	2: 40,620,729 (GRCm39)	D3583A		Het
Ltbr	T	C	6: 125,289,315 (GRCm39)	T165A	probably benign	Het
Mroh3	A	G	1: 136,118,736 (GRCm39)	I527T	probably benign	Het
Mylk	A	G	16: 34,742,887 (GRCm39)	E1133G	probably benign	Het
Nat3	T	C	8: 68,000,226 (GRCm39)	I35T	probably damaging	Het
Ncbp3	T	C	11: 72,957,591 (GRCm39)		probably null	Het
Nedd1	G	A	10: 92,534,592 (GRCm39)	T306M	probably benign	Het
Nexn	T	C	3: 151,952,815 (GRCm39)	R316G	probably benign	Het
Nox4	A	G	7: 86,966,510 (GRCm39)	H207R	probably damaging	Het
Nsun6	T	C	2: 15,044,636 (GRCm39)	Q110R	probably benign	Het
Or1e1b-ps1	C	T	11: 73,846,010 (GRCm39)	Q165*	probably null	Het
Or52n2c	C	T	7: 104,574,263 (GRCm39)	R236H	probably benign	Het
Or7g32	T	A	9: 19,408,818 (GRCm39)	V258E	probably damaging	Het
Pappa2	T	C	1: 158,678,701 (GRCm39)	D905G	probably damaging	Het
Pepd	T	C	7: 34,668,965 (GRCm39)	L195S	probably damaging	Het
Pms1	A	G	1: 53,246,475 (GRCm39)	S355P	probably benign	Het
Ppp1r9b	T	A	11: 94,892,766 (GRCm39)	D655E	possibly damaging	Het
Ppt2	A	G	17: 34,845,777 (GRCm39)		probably null	Het
Pramel57	A	G	5: 95,669,270 (GRCm39)	T100A	probably damaging	Het
Prss35	T	A	9: 86,637,427 (GRCm39)	C66S	probably damaging	Het
Rfc3	A	T	5: 151,574,616 (GRCm39)	M1K	probably null	Het
Rffl	T	C	11: 82,700,974 (GRCm39)	D284G	probably damaging	Het
Robo3	T	C	9: 37,340,942 (GRCm39)	D110G	probably damaging	Het
Rtel1	G	A	2: 180,964,108 (GRCm39)	V36M	probably damaging	Het
Slc1a7	T	A	4: 107,867,683 (GRCm39)	I457K	possibly damaging	Het
Smco1	A	G	16: 32,092,541 (GRCm39)	M71V	probably benign	Het
Snrnp200	G	A	2: 127,069,822 (GRCm39)	S989N	probably damaging	Het
Spef2	T	A	15: 9,713,305 (GRCm39)	I356F	probably damaging	Het
Stk24	C	T	14: 121,539,699 (GRCm39)	A166T	probably damaging	Het
Tada2b	T	C	5: 36,634,111 (GRCm39)	I156V	probably benign	Het
Tasor2	T	C	13: 3,618,849 (GRCm39)	K2251E	possibly damaging	Het
Tbce	C	T	13: 14,194,327 (GRCm39)	V111M	probably damaging	Het
Tlnrd1	A	G	7: 83,532,155 (GRCm39)	L92P	probably damaging	Het
Tnr	T	A	1: 159,713,778 (GRCm39)	D735E	probably benign	Het
Tram1	T	C	1: 13,649,771 (GRCm39)	H110R	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Unc5b	C	T	10: 60,618,899 (GRCm39)	C81Y	probably damaging	Het
Vps13a	G	A	19: 16,681,153 (GRCm39)	T1041M	probably benign	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
IGL02192:Pop1	APN	15	34,529,217 (GRCm39)	missense	probably benign	0.08
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
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

Predicted Primers

PCR Primer
(F):5'- TAACTCACAGGTTGGCTCTAGAG -3'
(R):5'- CGCAATAGTCAAAGCCCAGGAG -3'

Sequencing Primer
(F):5'- ACTCACAGGTTGGCTCTAGAGTTAAG -3'
(R):5'- CCCAGGAGAGAGGTGAGCC -3'

Posted On

2019-10-24