Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:Pop1'

602585

Institutional Source

Beutler Lab

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: 0.943) question?

Stock #

RF002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34495304-34530648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34502437 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 90 (G90D)

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: G90D

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

SMART Domains

Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: G90D

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: G90D

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

SMART Domains

Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: G90D

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: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,425,235		probably benign	Het
Angptl1	A	T	1: 156,857,224	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 51,805,593		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,512,905		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,512,927		probably benign	Het
Car13	T	C	3: 14,654,914	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,712,523		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,712,528		probably benign	Het
Cdh26	T	C	2: 178,466,631	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,561,421		probably benign	Het
Col11a1	A	T	3: 114,217,001	I1689L	unknown	Het
Dnah6	T	G	6: 73,101,889	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,455,186		probably benign	Het
Fah	A	C	7: 84,589,628	N336K	probably damaging	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Fbxo11	A	T	17: 87,996,053	I664K		Het
Fcgbp	A	G	7: 28,089,755	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 72,270,057		probably null	Het
Gm1110	A	G	9: 26,920,640	Y72H	probably damaging	Het
Gm14025	A	G	2: 129,038,794	F404S		Het
Inpp5e	C	T	2: 26,408,377	A71T	possibly damaging	Het
Iqcm	C	T	8: 75,577,899	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 93,018,283		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 93,018,299		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 74,947,574		probably benign	Het
Lyst	A	G	13: 13,634,363	D206G	probably benign	Het
Map4k5	A	T	12: 69,856,856	D58E	probably damaging	Het
Mapkapk2	A	G	1: 131,056,513	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,652,529		probably benign	Het
Men1	T	C	19: 6,340,116	S600P	probably damaging	Het
Mllt1	C	T	17: 56,896,300	V394M	probably benign	Het
Mllt1	C	A	17: 56,896,301	M393I	possibly damaging	Het
Nacc1	T	C	8: 84,676,219	E315G	possibly damaging	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,941,047		probably benign	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,050		probably benign	Het
Nid2	TAACACCGCCA	TA	14: 19,751,366		probably benign	Het
Olfr1484	T	A	19: 13,586,051	I206N	probably damaging	Het
Parp2	A	G	14: 50,817,386	E262G	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,279,375		probably null	Het
Ppp3cc	T	C	14: 70,267,339	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,799,629	D810N	probably damaging	Het
Prpf4b	T	A	13: 34,884,236	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,608,921		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,608,925		probably null	Het
Sdk2	T	C	11: 113,885,252	E208G	probably benign	Het
Smurf2	G	T	11: 106,852,587	P211Q	probably benign	Het
Snx25	C	A	8: 46,116,181		probably null	Het
Spata6	T	A	4: 111,828,305	M469K	probably benign	Het
Spta1	G	T	1: 174,231,360	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564		probably benign	Het
Stard8	GAG	GAGTAG	X: 99,066,515		probably null	Het
Tfeb	AGC	AGCGGC	17: 47,786,102		probably benign	Het
Tlcd1	T	A	11: 78,180,194	L203Q	probably benign	Het
Tlr11	T	C	14: 50,361,225	F223L	possibly damaging	Het
Usp48	T	A	4: 137,605,795	V100D	probably damaging	Het
Vmn2r56	G	A	7: 12,694,830	T503I	probably benign	Het
Vps18	T	C	2: 119,297,390	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp706	T	A	15: 37,003,705	Y39F	probably benign	Het
Zhx3	T	A	2: 160,781,806	N147I	probably damaging	Het

Other mutations in Pop1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Pop1	APN	15	34508729	missense	probably benign	0.00
IGL02192:Pop1	APN	15	34529071	missense	probably benign	0.08
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
Z1088:Pop1	UTSW	15	34499319	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAGGTTGGCTCTAGAGTTAAG -3'
(R):5'- TTCAGGACGCAATAGTCAAAGC -3'

Sequencing Primer
(F):5'- AAGCCTATCTCTGGTATGATACGG -3'
(R):5'- CGCAATAGTCAAAGCCCAGGAG -3'

Posted On

2019-12-04