Mutagenetix > Incidental Mutation

Incidental Mutation 'R8401:Pop1'

652216

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: 0.954) question?

Stock #

R8401 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34495304-34530648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34508609 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 277 (T277S)

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: T277S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: T277S

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: T277S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: T277S

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: 99.7%
20x: 99.3%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	T	C	14: 31,745,294	Y207C	probably damaging	Het
Ano8	T	C	8: 71,483,367	D235G	probably damaging	Het
Atp2b4	T	A	1: 133,731,836	I463F	probably damaging	Het
Brca2	T	A	5: 150,552,352	I2509N	probably damaging	Het
Brinp3	T	C	1: 146,901,446	S544P	probably benign	Het
Chd1	A	G	17: 15,743,211	Y824C	probably damaging	Het
Dapk1	T	C	13: 60,723,090	V330A	probably benign	Het
Dct	T	C	14: 118,043,203	T134A	possibly damaging	Het
Ddx56	T	C	11: 6,264,199	D350G	probably damaging	Het
Ddx60	C	T	8: 61,956,243	L438F	possibly damaging	Het
Dnah17	T	A	11: 118,024,659	K4378M	probably damaging	Het
Drc7	C	T	8: 95,074,135	S595F	probably benign	Het
Epb41	C	T	4: 131,974,707	R539Q	probably damaging	Het
Foxred2	T	C	15: 77,951,991	I389V	probably damaging	Het
Gan	C	A	8: 117,183,503	T57K	possibly damaging	Het
Glra3	T	C	8: 56,089,089	V289A	probably damaging	Het
Grk1	T	C	8: 13,407,846	F249L	probably damaging	Het
Grk6	G	A	13: 55,452,168	A258T	possibly damaging	Het
Hars	T	C	18: 36,771,190	N212S	possibly damaging	Het
Ikzf2	C	A	1: 69,539,095	Q418H	probably damaging	Het
Ikzf2	T	G	1: 69,539,096	Q418P	probably damaging	Het
Klre1	T	A	6: 129,580,026	N30K	probably benign	Het
Lama5	G	T	2: 180,198,787	D606E	probably damaging	Het
Lca5l	T	C	16: 96,162,560	K393R	probably damaging	Het
Lmbrd2	A	T	15: 9,156,207	I124F	possibly damaging	Het
Loxhd1	C	A	18: 77,380,460	P935T	probably damaging	Het
Nes	T	C	3: 87,978,081	S1216P	possibly damaging	Het
Nim1k	A	G	13: 119,712,677	L227P	probably damaging	Het
Nkx2-1	C	A	12: 56,533,056	L366F	probably damaging	Het
Nol6	C	A	4: 41,119,548	R586L	possibly damaging	Het
Ogdh	T	A	11: 6,297,174	L66*	probably null	Het
Olfr1367	A	T	13: 21,347,827	I300L	probably benign	Het
Orm3	A	G	4: 63,356,230	S11G	possibly damaging	Het
Pkn3	C	A	2: 30,080,059	S126R	probably benign	Het
Pnpla8	T	A	12: 44,288,308	D442E	probably damaging	Het
Prkag2	T	C	5: 24,863,870	T563A	probably benign	Het
Prkdc	T	A	16: 15,773,613	F2652I	possibly damaging	Het
Prok1	A	G	3: 107,237,197	I30T	probably benign	Het
Prr9	T	G	3: 92,123,049	T95P	possibly damaging	Het
Ptgds	A	G	2: 25,469,657	M6T	unknown	Het
Rnaseh2b	T	A	14: 62,370,489	D250E	probably benign	Het
Rundc1	C	T	11: 101,433,557	T363M	probably damaging	Het
Ryr2	T	A	13: 11,668,935	H3081L	possibly damaging	Het
Setmar	T	C	6: 108,076,163	I206T	probably benign	Het
Slitrk6	A	G	14: 110,752,021	S85P	possibly damaging	Het
Spi1	A	G	2: 91,113,305	N65D	probably benign	Het
Stx1b	A	T	7: 127,807,773		probably benign	Het
Trav5-4	G	A	14: 53,704,293	S41N	probably benign	Het
Tspan14	T	C	14: 40,908,092	D260G	probably benign	Het
Ube4a	T	C	9: 44,941,229	D645G	possibly damaging	Het
Ush2a	C	T	1: 188,542,865	T1845I	probably benign	Het
Vps18	T	C	2: 119,297,492	L932P	probably damaging	Het
Wdr61	A	T	9: 54,728,255	S21T	probably benign	Het
Zfp62	T	A	11: 49,217,391	C770S	probably damaging	Het
Zfp672	T	C	11: 58,316,802	K231R	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
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
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'- TTAGGCAGAAACACCTTGAAACTC -3'
(R):5'- ACGCGTGTACGGTTAAATCC -3'

Sequencing Primer
(F):5'- ACACCTTGAAACTCACTAAATCATTG -3'
(R):5'- TACCAGTTTAAGAGTTGGGTGAAGCC -3'

Posted On

2020-10-20