Mutagenetix > Incidental Mutations

Incidental Mutation 'R6139:Pop1'

488508

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

044286-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R6139 (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 34529058 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 745 (C745S)

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: C775S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: C775S

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: C745S

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: C745S

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: ENSMUST00000122658

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226504

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	A	G	11: 117,806,324	T250A	probably damaging	Het
Acacb	T	C	5: 114,212,652	I1074T	probably damaging	Het
Acsl6	C	A	11: 54,340,542	P462T	probably damaging	Het
Aebp1	A	G	11: 5,871,842	D747G	probably damaging	Het
Antxr2	A	C	5: 97,977,706		probably null	Het
Arhgap35	T	C	7: 16,563,467	T558A	possibly damaging	Het
Asap1	T	A	15: 64,166,539	I223F	possibly damaging	Het
C2cd5	A	C	6: 143,035,058	D669E	probably damaging	Het
Casz1	C	T	4: 148,951,697	T1472M	probably damaging	Het
Catsper4	A	G	4: 134,217,866	L154P	probably damaging	Het
Cep350	T	C	1: 155,953,279	E293G	probably benign	Het
Cma1	T	A	14: 55,942,700		probably null	Het
Ddx42	C	T	11: 106,240,017	A439V	probably damaging	Het
Disp2	T	A	2: 118,790,662	L625Q	probably damaging	Het
Dnah1	T	C	14: 31,286,027	D2141G	probably benign	Het
Dsp	T	C	13: 38,192,406	I1389T	probably damaging	Het
Fam81a	A	T	9: 70,102,818		probably null	Het
Fsip2	A	G	2: 82,991,044	D5707G	possibly damaging	Het
Gcnt4	G	A	13: 96,946,852	V219I	probably benign	Het
Gk2	A	G	5: 97,456,280	V233A	probably benign	Het
Grm1	T	C	10: 10,746,331		probably benign	Het
Gsap	T	A	5: 21,281,540	V649D	probably damaging	Het
Kif1b	G	A	4: 149,237,532	H977Y	possibly damaging	Het
Ktn1	T	A	14: 47,726,215		probably null	Het
Lgals12	T	A	19: 7,604,377	T29S	probably benign	Het
Me3	G	T	7: 89,632,900		probably benign	Het
Mgst3	T	G	1: 167,378,305	K35T	possibly damaging	Het
Mtmr9	T	C	14: 63,529,778	R354G	probably benign	Het
Myh11	T	C	16: 14,215,874	E1059G	probably damaging	Het
Nr4a2	T	A	2: 57,108,689	H408L	probably damaging	Het
Olfr689	A	T	7: 105,314,246	T81S	probably damaging	Het
Olfr993	A	T	2: 85,414,346	F178I	probably damaging	Het
Pds5b	T	A	5: 150,800,777	L1275Q	possibly damaging	Het
Pfkfb4	A	G	9: 109,027,757	Y412C	probably damaging	Het
Ptpn14	T	G	1: 189,851,165	S736R	probably benign	Het
Rdh9	A	T	10: 127,776,737	T85S	possibly damaging	Het
Rnf223	T	C	4: 156,132,803	C212R	probably damaging	Het
Rnf39	A	G	17: 36,943,338	E84G	probably damaging	Het
Sfmbt1	T	A	14: 30,811,418	V584D	probably damaging	Het
Slc12a5	T	A	2: 164,992,311	S728T	probably damaging	Het
Slc16a12	T	A	19: 34,670,895		probably null	Het
Snupn	C	A	9: 56,982,824	Q310K	possibly damaging	Het
St7	T	C	6: 17,694,354	L48P	probably damaging	Het
Thsd7a	T	C	6: 12,379,573	N951D	possibly damaging	Het
Ttn	G	A	2: 76,852,069	R959*	probably null	Het
Ugt2b36	A	T	5: 87,092,171	D118E	probably benign	Het
Vmn2r7	G	A	3: 64,715,918	T327I	probably damaging	Het
Wdr70	T	C	15: 8,079,251	D137G	probably benign	Het
Wrn	A	T	8: 33,353,332	M14K	probably damaging	Het
Xpot	T	A	10: 121,611,708	E283V	probably benign	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
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
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'- TCCTGCTAAAAGGCCCAACTATG -3'
(R):5'- TACCCAGAGCCTGTTCAATATG -3'

Sequencing Primer
(F):5'- AGGCCCAACTATGTTAAGCTTGG -3'
(R):5'- TTCAAAATGTACCTGGCAGCTGC -3'

Posted On

2017-10-10