Mutagenetix > Incidental Mutation

Incidental Mutation 'R7053:Pop1'

547738

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R7053 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34495304-34530648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 34530275 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 940 (S940A)

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: S970A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: S970A

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: S940A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: S940A

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: 99.7%
20x: 99.1%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	T	8: 43,568,799	C551*	probably null	Het
Aldh1l1	C	A	6: 90,563,438	T235K	possibly damaging	Het
Atp6v0a2	A	G	5: 124,645,983	E257G	probably damaging	Het
AW146154	A	G	7: 41,482,564		probably null	Het
BC048507	T	C	13: 67,863,653	Y50H	probably benign	Het
Brip1	T	C	11: 86,192,965	N77D	possibly damaging	Het
Ccdc13	T	C	9: 121,833,838	E37G	probably damaging	Het
Col27a1	T	A	4: 63,333,167		probably benign	Het
Corin	T	A	5: 72,301,527	I960L	probably benign	Het
Csnk2b	A	G	17: 35,116,446		probably benign	Het
Cyp2d26	T	C	15: 82,792,600	S182G	probably benign	Het
Dennd1a	A	G	2: 37,961,654	L74P	probably damaging	Het
Dip2c	A	G	13: 9,610,704	D838G	probably damaging	Het
Dkkl1	G	T	7: 45,207,598	Q182K	probably damaging	Het
Dnaic2	T	C	11: 114,738,695	S183P	probably damaging	Het
Dnhd1	T	C	7: 105,694,954	L1835P	probably damaging	Het
Espl1	T	C	15: 102,316,893		probably null	Het
Fam160a2	C	T	7: 105,384,572	G479D	probably damaging	Het
Fam174a	C	T	1: 95,325,228	A185V	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Grid2	G	T	6: 64,700,418	A74S	unknown	Het
Gsdma3	T	A	11: 98,629,795	M84K	possibly damaging	Het
Hlcs	A	T	16: 94,268,015	S262R	possibly damaging	Het
Lrp1	A	G	10: 127,541,094	C4205R	probably damaging	Het
Mdc1	C	T	17: 35,846,326	A181V	probably benign	Het
Mdga2	T	A	12: 66,689,384	I357F	probably benign	Het
Mfn1	A	G	3: 32,531,965	I21V	probably benign	Het
Mgat4b	C	T	11: 50,233,540	T409M	probably damaging	Het
Mgat4d	G	T	8: 83,371,632	K341N	probably damaging	Het
Mpo	A	T	11: 87,803,510	N109Y	probably damaging	Het
Mvp	T	C	7: 126,987,604	Q785R	possibly damaging	Het
Nim1k	A	G	13: 119,727,609	V88A	probably damaging	Het
Oasl2	A	T	5: 114,911,230	I464L	possibly damaging	Het
Olfr1029	G	T	2: 85,976,014	C257F	possibly damaging	Het
Pkd1l2	A	G	8: 117,013,942	F2139L	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,670	M75K	probably damaging	Het
Prdm15	G	A	16: 97,794,542	Q1029*	probably null	Het
Rffl	T	C	11: 82,812,671	K142R	probably null	Het
Rhou	A	G	8: 123,654,195		probably benign	Het
Rp1l1	A	T	14: 64,031,509	T1515S	possibly damaging	Het
Serpina1b	T	A	12: 103,732,429	S54C	possibly damaging	Het
Slc30a2	G	A	4: 134,347,415	R161Q	probably damaging	Het
Taok3	T	A	5: 117,252,562	D529E	probably benign	Het
Tmem18	T	A	12: 30,584,507	M1K	probably null	Het
Tmem269	T	A	4: 119,209,267	H198L	probably damaging	Het
Tnrc18	A	G	5: 142,787,229	V432A	unknown	Het
Ttc6	A	T	12: 57,660,532	T742S	probably benign	Het
Uhrf2	T	A	19: 30,092,119	C749S	probably damaging	Het
Unc13c	G	A	9: 73,932,297	T424I	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r61	A	C	7: 42,267,133	D390A	probably damaging	Het
Wisp3	A	G	10: 39,158,301	Y102H	probably damaging	Het
Xpo7	A	G	14: 70,684,858		probably null	Het
Zfp948	T	A	17: 21,584,859	L37*	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGGATCAGTGCTACCATGG -3'
(R):5'- AATTCTTGCAAACCGATACTGCAG -3'

Sequencing Primer
(F):5'- ATCAGTGCTACCATGGACCCTG -3'
(R):5'- ACCGATACTGCAGTGAGGTTG -3'

Posted On

2019-05-13