Mutagenetix > Incidental Mutations

Incidental Mutation 'R9236:Pop1'

700506

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

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R9236 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34495304-34530648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34499412 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 41 (P41Q)

Ref Sequence

ENSEMBL: ENSMUSP00000052654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022946] [ENSMUST00000052290] [ENSMUST00000079028]

AlphaFold

Q8K205

Predicted Effect

probably benign
Transcript: ENSMUST00000022946

SMART Domains

Protein: ENSMUSP00000022946
Gene: ENSMUSG00000022323

Domain	Start	End	E-Value	Type
Pfam:Ribonuc_L-PSP	11	129	1.7e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000052290
AA Change: P41Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: P41Q

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: P41Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: P41Q

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: 99.2%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,407,738	T1514A	probably benign	Het
Abcb1b	G	A	5: 8,824,893		probably null	Het
Adam12	A	C	7: 134,012,293	L109R	probably benign	Het
Adgre1	T	A	17: 57,402,782	Y146*	probably null	Het
Ap5m1	G	T	14: 49,073,607	V45L	probably benign	Het
Bpifa5	A	T	2: 154,164,230	I113F	probably damaging	Het
Cacna1h	A	T	17: 25,381,450	M1639K	probably damaging	Het
Celsr1	T	C	15: 86,030,850	E974G	probably damaging	Het
Cggbp1	C	T	16: 64,855,955	A128V	probably benign	Het
Col7a1	G	T	9: 108,960,616	R898L	unknown	Het
Cycs	C	T	6: 50,566,527		probably benign	Het
Cyp2c54	A	T	19: 40,072,494	Y68*	probably null	Het
Dock9	T	C	14: 121,639,558	D467G	probably damaging	Het
Eif2s1	A	T	12: 78,874,569	I83L	probably benign	Het
Eppk1	T	A	15: 76,106,310	R2124*	probably null	Het
Fkbp15	G	C	4: 62,336,427	L279V	probably damaging	Het
Fndc1	A	G	17: 7,773,628	V412A	unknown	Het
Gfap	A	G	11: 102,895,501	I194T	probably damaging	Het
Gpatch2	C	A	1: 187,233,780	T350K	probably benign	Het
Hecw1	C	T	13: 14,316,058	G783D	possibly damaging	Het
Hipk1	A	T	3: 103,764,473	W437R	probably damaging	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Hr	C	T	14: 70,571,956	P1136S	probably damaging	Het
Il1rl2	T	A	1: 40,329,061	N130K	probably damaging	Het
Kif13b	A	G	14: 64,744,934	I532V	probably benign	Het
Klk15	C	T	7: 43,938,366	H73Y	possibly damaging	Het
Lrba	T	A	3: 86,353,759	I1474K	probably benign	Het
Luc7l3	T	C	11: 94,295,946	E371G	unknown	Het
Myo5b	T	A	18: 74,720,863	D1184E	probably benign	Het
N4bp2l2	A	G	5: 150,662,014	M167T	probably benign	Het
N4bp2l2	T	C	5: 150,662,269	H82R	probably benign	Het
Ndufaf1	T	C	2: 119,660,231	E118G	possibly damaging	Het
Nedd9	A	T	13: 41,338,677	V119E	possibly damaging	Het
Nlgn3	T	C	X: 101,308,784	V179A	probably damaging	Het
Ntmt1	T	A	2: 30,822,395	L150Q	probably damaging	Het
Olfr1097	C	T	2: 86,890,278	S299N	probably benign	Het
Olfr1451	G	T	19: 12,999,399	V138F	probably damaging	Het
Olfr836	A	G	9: 19,121,910	*315W	probably null	Het
Olfr889	A	T	9: 38,116,200	M140L	possibly damaging	Het
Osbpl8	A	G	10: 111,270,635	N301S	probably benign	Het
Pgm5	A	T	19: 24,861,639	S51T	probably benign	Het
Pitx2	A	G	3: 129,215,696	K88R	probably damaging	Het
Pnmal2	A	T	7: 16,946,039	D316V	unknown	Het
Rcor1	A	C	12: 111,103,646	K292N		Het
Rps6kc1	C	T	1: 190,800,003	D601N	probably damaging	Het
Sema7a	A	T	9: 57,955,125	I204F	probably damaging	Het
Slc29a4	T	C	5: 142,712,947	L121P	probably damaging	Het
Slc4a2	A	G	5: 24,439,310	T983A	probably benign	Het
Slc4a4	C	T	5: 89,046,299	R213*	probably null	Het
Tbc1d2	G	A	4: 46,609,029	T736I	probably benign	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Trim28	G	A	7: 13,029,563	A544T	probably benign	Het
Trip12	A	C	1: 84,725,829	L1895R	probably damaging	Het
Ttc41	A	T	10: 86,776,730	Y1289F	probably damaging	Het
Vmn1r70	G	A	7: 10,634,089	C168Y	probably damaging	Het
Vtcn1	C	A	3: 100,888,217	R167S	probably benign	Het
Wdr66	T	C	5: 123,290,062	C980R	probably damaging	Het
Zfp369	G	A	13: 65,297,196	V718I	probably benign	Het
Zfp608	T	C	18: 54,899,282	T529A	probably benign	Het
Zfp936	A	G	7: 43,187,498	N46D	probably benign	Het
Zfp974	A	G	7: 27,910,917	V461A	possibly damaging	Het
Zgrf1	A	G	3: 127,584,663	N1024S	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
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
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'- GGGATTCCTGCTATAGATTAATATGGT -3'
(R):5'- CAAGAAGGCAGACTTGTAAGC -3'

Sequencing Primer
(F):5'- CCTGGAACTTACTTTGTAGACCAGG -3'
(R):5'- GGCAGACTTGTAAGCACAAATTCTG -3'

Posted On

2022-02-07