Mutagenetix > Incidental Mutation

Incidental Mutation 'R0453:Pop1'

39810

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

038653-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R0453 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34495304-34530648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34526206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 649 (V649E)

Ref Sequence

ENSEMBL: ENSMUSP00000078037 (fasta)

Gene Model

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

AlphaFold

Q8K205

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052290
AA Change: V679E

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: V679E

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

possibly damaging
Transcript: ENSMUST00000079028
AA Change: V649E

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: V649E

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: ENSMUST00000132427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153061

Meta Mutation Damage Score

0.2782

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (97/98)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	T	C	19: 29,753,668 (GRCm38)	Y715C	probably damaging	Het
Acad10	T	A	5: 121,627,382 (GRCm38)	K843*	probably null	Het
Adam26b	T	C	8: 43,520,350 (GRCm38)	I538M	probably benign	Het
Adamtsl1	T	C	4: 86,232,615 (GRCm38)	Y337H	probably damaging	Het
Ak7	T	C	12: 105,716,048 (GRCm38)	M156T	probably damaging	Het
Aldh3a1	A	G	11: 61,215,512 (GRCm38)	M238V	probably benign	Het
Asic4	T	A	1: 75,473,511 (GRCm38)		probably benign	Het
AW551984	A	G	9: 39,600,641 (GRCm38)	S25P	probably damaging	Het
Bbs7	T	A	3: 36,607,669 (GRCm38)	Y127F	possibly damaging	Het
BC049730	T	A	7: 24,714,287 (GRCm38)	S243T	probably benign	Het
Bco1	G	A	8: 117,108,777 (GRCm38)	E156K	possibly damaging	Het
Becn1	T	C	11: 101,290,449 (GRCm38)	D342G	probably damaging	Het
Birc6	T	A	17: 74,649,754 (GRCm38)	I3575N	probably damaging	Het
Cc2d2a	A	T	5: 43,703,294 (GRCm38)	M522L	probably benign	Het
Cerkl	A	G	2: 79,342,451 (GRCm38)	F293L	probably benign	Het
Chil3	T	G	3: 106,148,905 (GRCm38)	N311T	probably benign	Het
Cpeb2	T	A	5: 43,285,713 (GRCm38)		probably benign	Het
Cpxm2	A	G	7: 132,128,405 (GRCm38)	S162P	probably damaging	Het
Cracr2b	A	C	7: 141,464,263 (GRCm38)	E136A	probably damaging	Het
Cyp2a4	T	A	7: 26,312,833 (GRCm38)	M347K	probably benign	Het
Dicer1	C	A	12: 104,702,630 (GRCm38)	R1264S	probably benign	Het
Dlgap1	T	A	17: 70,761,346 (GRCm38)	N609K	probably benign	Het
Dnhd1	A	G	7: 105,674,444 (GRCm38)	T641A	probably benign	Het
Egfl8	T	C	17: 34,614,882 (GRCm38)	Y74C	probably damaging	Het
Esyt1	A	G	10: 128,512,209 (GRCm38)	S901P	probably benign	Het
Fam83e	A	T	7: 45,723,948 (GRCm38)	D246V	probably damaging	Het
Galnt2	T	C	8: 124,338,584 (GRCm38)		probably benign	Het
Hdc	A	G	2: 126,594,951 (GRCm38)		probably benign	Het
Herc1	A	C	9: 66,399,772 (GRCm38)	Q958P	probably benign	Het
Iqcg	T	A	16: 33,049,843 (GRCm38)		probably benign	Het
Iqub	A	T	6: 24,450,830 (GRCm38)	F590Y	probably damaging	Het
Jak2	T	C	19: 29,311,838 (GRCm38)	I1130T	probably benign	Het
Kbtbd11	G	A	8: 15,027,499 (GRCm38)	A33T	probably benign	Het
Kcnip4	A	G	5: 48,509,712 (GRCm38)	L37P	probably damaging	Het
Klk6	A	G	7: 43,828,539 (GRCm38)	N112D	probably damaging	Het
Kmt2c	G	A	5: 25,354,747 (GRCm38)	T1011I	probably damaging	Het
Knl1	A	T	2: 119,068,388 (GRCm38)	K190M	probably damaging	Het
Lama3	T	A	18: 12,465,478 (GRCm38)	S981T	possibly damaging	Het
Lrrc18	T	C	14: 33,008,651 (GRCm38)	L49P	probably damaging	Het
Lrrc31	T	C	3: 30,687,525 (GRCm38)	E245G	probably damaging	Het
Macf1	T	C	4: 123,444,944 (GRCm38)	I2456M	probably benign	Het
Mcm6	T	A	1: 128,333,555 (GRCm38)	T771S	probably benign	Het
Met	A	C	6: 17,534,198 (GRCm38)	Y680S	possibly damaging	Het
Mixl1	T	A	1: 180,696,646 (GRCm38)	T123S	probably damaging	Het
Myh8	A	T	11: 67,292,905 (GRCm38)	I787F	probably benign	Het
Myocd	A	G	11: 65,196,225 (GRCm38)	F292S	probably damaging	Het
Neb	T	C	2: 52,313,890 (GRCm38)		probably null	Het
Nfe2l1	A	G	11: 96,827,368 (GRCm38)	S114P	probably damaging	Het
Nrxn2	T	C	19: 6,491,521 (GRCm38)	S986P	probably damaging	Het
Olfr1246	A	T	2: 89,590,751 (GRCm38)	Y121*	probably null	Het
Olfr1453	T	G	19: 13,027,931 (GRCm38)	T133P	probably damaging	Het
Olfr25	A	T	9: 38,330,171 (GRCm38)	T195S	probably benign	Het
Olfr745	T	C	14: 50,643,004 (GRCm38)	V241A	possibly damaging	Het
Olfr767	A	G	10: 129,079,771 (GRCm38)	F64S	probably damaging	Het
Olfr920	G	A	9: 38,756,129 (GRCm38)	G147D	probably damaging	Het
Oprl1	T	C	2: 181,718,734 (GRCm38)		probably null	Het
Panx2	T	A	15: 89,068,407 (GRCm38)	I359N	probably damaging	Het
Pik3c2b	T	A	1: 133,077,396 (GRCm38)	V545E	probably damaging	Het
Piwil4	T	C	9: 14,727,452 (GRCm38)	N259S	probably benign	Het
Plcxd2	A	T	16: 45,980,556 (GRCm38)	F102I	probably damaging	Het
Pld5	A	T	1: 176,089,956 (GRCm38)	M75K	possibly damaging	Het
Pmp22	T	A	11: 63,151,103 (GRCm38)		probably benign	Het
Polr2a	A	G	11: 69,741,019 (GRCm38)	S1074P	possibly damaging	Het
Prc1	A	G	7: 80,313,102 (GRCm38)	N548S	probably damaging	Het
Prss51	T	C	14: 64,097,139 (GRCm38)	L202P	probably damaging	Het
Rhpn1	T	C	15: 75,713,579 (GRCm38)	S576P	possibly damaging	Het
Rictor	A	G	15: 6,708,642 (GRCm38)	D20G	probably benign	Het
Rpl13a-ps1	A	T	19: 50,030,206 (GRCm38)	L177*	probably null	Het
Rpl23a-ps1	T	G	1: 45,981,927 (GRCm38)		noncoding transcript	Het
Saa2	A	G	7: 46,753,478 (GRCm38)	D51G	probably damaging	Het
Sec31a	A	T	5: 100,404,118 (GRCm38)		probably benign	Het
Secisbp2	G	A	13: 51,683,325 (GRCm38)	E841K	possibly damaging	Het
Serinc1	A	G	10: 57,517,210 (GRCm38)	Y437H	probably damaging	Het
Slc39a12	A	T	2: 14,435,681 (GRCm38)	H481L	probably benign	Het
Suz12	T	A	11: 80,030,033 (GRCm38)	N586K	probably damaging	Het
Synm	T	C	7: 67,736,882 (GRCm38)	Y344C	possibly damaging	Het
Tas2r104	A	G	6: 131,685,341 (GRCm38)	V135A	probably benign	Het
Tdrd9	T	C	12: 112,068,239 (GRCm38)	S1371P	probably benign	Het
Tg	T	A	15: 66,828,533 (GRCm38)	D893E	probably benign	Het
Thoc5	C	A	11: 4,918,217 (GRCm38)	D423E	possibly damaging	Het
Trim11	G	A	11: 58,990,535 (GRCm38)	R418H	probably damaging	Het
Trim52	T	G	14: 106,106,965 (GRCm38)	V19G	probably damaging	Het
Tuba4a	C	A	1: 75,215,858 (GRCm38)	V371L	probably damaging	Het
Ugt8a	A	G	3: 125,914,957 (GRCm38)	V168A	probably benign	Het
Ulk1	C	T	5: 110,791,085 (GRCm38)	G496R	probably damaging	Het
Usp40	A	G	1: 87,946,598 (GRCm38)	*1236Q	probably null	Het
Vmn2r100	C	A	17: 19,522,120 (GRCm38)	P252Q	possibly damaging	Het
Vmn2r24	A	G	6: 123,780,391 (GRCm38)		probably null	Het
Vmn2r53	A	G	7: 12,582,411 (GRCm38)	Y494H	probably damaging	Het
Vmn2r65	T	A	7: 84,946,234 (GRCm38)	D414V	probably benign	Het
Wdr26	A	T	1: 181,182,879 (GRCm38)	L519*	probably null	Het
Wnk1	A	G	6: 119,963,151 (GRCm38)	V173A	probably damaging	Het
Zfp217	C	T	2: 170,115,462 (GRCm38)	A539T	probably benign	Het
Zfp318	T	C	17: 46,396,708 (GRCm38)	S231P	probably damaging	Het
Zfp398	T	C	6: 47,865,848 (GRCm38)	V146A	probably benign	Het
Zfp410	T	C	12: 84,331,712 (GRCm38)	M270T	probably damaging	Het
Zfp445	A	T	9: 122,853,513 (GRCm38)	H454Q	possibly damaging	Het

Other mutations in Pop1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Pop1	APN	15	34,508,729 (GRCm38)	missense	probably benign	0.00
IGL02192:Pop1	APN	15	34,529,071 (GRCm38)	missense	probably benign	0.08
IGL02680:Pop1	APN	15	34,502,473 (GRCm38)	missense	probably damaging	0.99
IGL02958:Pop1	APN	15	34,530,363 (GRCm38)	missense	probably damaging	0.99
H8562:Pop1	UTSW	15	34,530,212 (GRCm38)	missense	probably benign	0.00
PIT4802001:Pop1	UTSW	15	34,529,083 (GRCm38)	missense	probably benign	0.00
R0244:Pop1	UTSW	15	34,515,891 (GRCm38)	nonsense	probably null
R0281:Pop1	UTSW	15	34,529,858 (GRCm38)	splice site	probably null
R0579:Pop1	UTSW	15	34,509,969 (GRCm38)	missense	possibly damaging	0.68
R1054:Pop1	UTSW	15	34,509,809 (GRCm38)	missense	probably benign	0.30
R1501:Pop1	UTSW	15	34,510,357 (GRCm38)	missense	probably benign	0.01
R1614:Pop1	UTSW	15	34,530,210 (GRCm38)	missense	possibly damaging	0.46
R1994:Pop1	UTSW	15	34,530,471 (GRCm38)	missense	probably damaging	1.00
R2084:Pop1	UTSW	15	34,508,598 (GRCm38)	splice site	probably benign
R4020:Pop1	UTSW	15	34,508,780 (GRCm38)	missense	probably benign	0.01
R4550:Pop1	UTSW	15	34,528,936 (GRCm38)	missense	probably damaging	1.00
R4579:Pop1	UTSW	15	34,515,824 (GRCm38)	intron	probably benign
R5672:Pop1	UTSW	15	34,530,179 (GRCm38)	missense	possibly damaging	0.63
R6139:Pop1	UTSW	15	34,529,058 (GRCm38)	missense	probably benign	0.26
R6161:Pop1	UTSW	15	34,526,310 (GRCm38)	missense	probably damaging	1.00
R6821:Pop1	UTSW	15	34,508,639 (GRCm38)	missense	possibly damaging	0.86
R7053:Pop1	UTSW	15	34,530,275 (GRCm38)	missense	probably benign	0.01
R7195:Pop1	UTSW	15	34,510,379 (GRCm38)	missense	probably damaging	0.97
R7543:Pop1	UTSW	15	34,530,447 (GRCm38)	missense	probably damaging	1.00
R7571:Pop1	UTSW	15	34,528,947 (GRCm38)	missense	probably null	1.00
R7587:Pop1	UTSW	15	34,502,413 (GRCm38)	missense	probably damaging	0.97
R8401:Pop1	UTSW	15	34,508,609 (GRCm38)	missense	probably damaging	1.00
R8406:Pop1	UTSW	15	34,529,170 (GRCm38)	missense	probably benign
R8707:Pop1	UTSW	15	34,529,203 (GRCm38)	missense	probably benign	0.02
R9044:Pop1	UTSW	15	34,530,408 (GRCm38)	missense	possibly damaging	0.94
R9066:Pop1	UTSW	15	34,515,914 (GRCm38)	missense	possibly damaging	0.68
R9236:Pop1	UTSW	15	34,499,412 (GRCm38)	missense	probably damaging	0.98
R9600:Pop1	UTSW	15	34,512,735 (GRCm38)	missense	probably benign	0.06
R9711:Pop1	UTSW	15	34,530,081 (GRCm38)	missense	probably benign
RF001:Pop1	UTSW	15	34,502,437 (GRCm38)	missense	probably damaging	1.00
RF002:Pop1	UTSW	15	34,502,437 (GRCm38)	missense	probably damaging	1.00
Z1088:Pop1	UTSW	15	34,499,319 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCGCGTATGGGTCTGCAACTG -3'
(R):5'- GTATACCCTGGCTCCAAGCACTTC -3'

Sequencing Primer
(F):5'- GAGTTATTTCCCATGTTGACTGAAG -3'
(R):5'- CTTCTTGGTAACAGAGAACGC -3'

Posted On

2013-05-23