Mutagenetix > Incidental Mutation

Incidental Mutation 'R9044:Pop1'

687943

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 #

R9044 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34495304-34530648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34530408 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1014 (M1014K)

Ref Sequence

ENSEMBL: ENSMUSP00000052654 (fasta)

Gene Model

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

AlphaFold

Q8K205

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052290
AA Change: M1014K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: M1014K

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: M984K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: M984K

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: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

95% (62/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	T	10: 79,066,480	Y667*	probably null	Het
5830411N06Rik	G	T	7: 140,248,097	G73C	probably damaging	Het
Acacb	A	G	5: 114,235,517	H1869R	probably benign	Het
Adgrb1	A	G	15: 74,569,899	T950A	possibly damaging	Het
Alms1	T	A	6: 85,696,753	L3110Q	probably damaging	Het
Ambra1	A	T	2: 91,910,089		probably benign	Het
Brpf3	A	T	17: 28,806,897	N315Y	possibly damaging	Het
Cpne7	C	T	8: 123,130,212	P402L	probably damaging	Het
Cyba	T	A	8: 122,424,891	D189V	probably benign	Het
Dexi	A	G	16: 10,503,521		probably benign	Het
Dnah2	C	T	11: 69,529,421	V156I	probably benign	Het
Drc7	T	C	8: 95,070,449	V420A	probably damaging	Het
Eef2k	T	A	7: 120,880,361	V167E	probably damaging	Het
Efcab1	A	G	16: 14,920,397	D142G	probably damaging	Het
Eid2	T	C	7: 28,268,613	I220T	possibly damaging	Het
Fggy	A	C	4: 95,844,097	T442P	probably benign	Het
Foxi3	T	G	6: 70,956,699	S57A	probably benign	Het
Foxi3	T	A	6: 70,957,202		probably null	Het
Galntl5	C	T	5: 25,210,328	P286S	possibly damaging	Het
Gm5592	A	G	7: 41,288,850	K519E	probably benign	Het
Gse1	T	A	8: 120,230,530	S587T	unknown	Het
Kcns1	G	T	2: 164,168,076	F254L	probably damaging	Het
Kif15	A	G	9: 123,011,716	T23A	probably benign	Het
Kif16b	T	C	2: 142,699,657	Q1241R	possibly damaging	Het
Lck	A	T	4: 129,556,305	L205Q	probably damaging	Het
Map9	C	T	3: 82,380,218	A420V	possibly damaging	Het
Mdm2	A	T	10: 117,695,055	D170E		Het
Mllt6	T	A	11: 97,663,659	C30S	probably damaging	Het
Muc5b	T	G	7: 141,858,058	D1580E	unknown	Het
Oaf	C	T	9: 43,224,011	A157T	probably damaging	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Olfr324	T	A	11: 58,598,300	N295K	possibly damaging	Het
Olfr525	A	G	7: 140,322,572		probably benign	Het
Osbp2	T	C	11: 3,717,128	I8V	probably damaging	Het
Pcdh9	T	C	14: 93,886,811	Y641C	probably damaging	Het
Phf10	A	T	17: 14,946,322	C429S	probably damaging	Het
Plekha6	C	G	1: 133,273,949	P367A	probably benign	Het
Plekha6	C	A	1: 133,273,950	P367Q	possibly damaging	Het
Plod2	T	A	9: 92,607,220	I756K	probably damaging	Het
Plxnb2	C	A	15: 89,160,363		probably benign	Het
Prrt4	T	C	6: 29,171,541	D304G	probably benign	Het
Rcan2	C	A	17: 43,836,354	L28I	probably benign	Het
Rffl	C	T	11: 82,810,194	V269I	probably benign	Het
Rhox3c	C	T	X: 37,469,650		probably benign	Het
Ric1	C	T	19: 29,599,894	A1066V	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Ryr2	A	T	13: 11,738,103	Y1777*	probably null	Het
Sh3tc1	T	G	5: 35,697,490	K1288Q	possibly damaging	Het
Slc10a5	A	C	3: 10,334,732	I289M	probably damaging	Het
Slc16a9	A	G	10: 70,274,967	T128A	probably benign	Het
Slc7a11	T	C	3: 50,379,183	H373R	probably benign	Het
Spesp1	A	G	9: 62,273,341	I95T	probably benign	Het
Sra1	C	T	18: 36,667,893	V131I	probably benign	Het
Stxbp5l	A	G	16: 37,204,568	V556A	possibly damaging	Het
Sycp2	T	C	2: 178,347,824	E1414G	probably damaging	Het
Trac	A	T	14: 54,220,691	K57*	probably null	Het
Trps1	T	C	15: 50,822,607	E724G	probably benign	Het
Tubgcp6	T	G	15: 89,103,194	D1192A	possibly damaging	Het
Usp48	G	A	4: 137,613,685	G332E	probably benign	Het
Vps18	T	G	2: 119,297,553	I952M	probably damaging	Het
Wdr36	T	C	18: 32,837,446	F20S	probably damaging	Het
Wdr62	C	A	7: 30,262,637	R450L	probably benign	Het
Xab2	T	C	8: 3,618,641	K76E	probably benign	Het
Zpr1	A	G	9: 46,279,697	D300G	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
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'- GCGACCCATTTAAAAGCCTGATTC -3'
(R):5'- AGACAGCCAGGACTTTCTGTG -3'

Sequencing Primer
(F):5'- CCCATTTAAAAGCCTGATTCTGAAGG -3'
(R):5'- CCAGGACTTTCTGTGAGCTTTGAC -3'

Posted On

2021-11-19