Mutagenetix > Incidental Mutation

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

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R9236 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34495457-34530799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34499558 bp (GRCm39)

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: 24,626,712 (GRCm39)	T1514A	probably benign	Het
Abcb1b	G	A	5: 8,874,893 (GRCm39)		probably null	Het
Adam12	A	C	7: 133,614,022 (GRCm39)	L109R	probably benign	Het
Adgre1	T	A	17: 57,709,782 (GRCm39)	Y146*	probably null	Het
Ap5m1	G	T	14: 49,311,064 (GRCm39)	V45L	probably benign	Het
Bpifa5	A	T	2: 154,006,150 (GRCm39)	I113F	probably damaging	Het
Cacna1h	A	T	17: 25,600,424 (GRCm39)	M1639K	probably damaging	Het
Celsr1	T	C	15: 85,915,051 (GRCm39)	E974G	probably damaging	Het
Cfap251	T	C	5: 123,428,125 (GRCm39)	C980R	probably damaging	Het
Cggbp1	C	T	16: 64,676,318 (GRCm39)	A128V	probably benign	Het
Col7a1	G	T	9: 108,789,684 (GRCm39)	R898L	unknown	Het
Cycs	C	T	6: 50,543,507 (GRCm39)		probably benign	Het
Cyp2c54	A	T	19: 40,060,938 (GRCm39)	Y68*	probably null	Het
Dock9	T	C	14: 121,876,970 (GRCm39)	D467G	probably damaging	Het
Eif2s1	A	T	12: 78,921,343 (GRCm39)	I83L	probably benign	Het
Eppk1	T	A	15: 75,990,510 (GRCm39)	R2124*	probably null	Het
Fkbp15	G	C	4: 62,254,664 (GRCm39)	L279V	probably damaging	Het
Fndc1	A	G	17: 7,992,460 (GRCm39)	V412A	unknown	Het
Gfap	A	G	11: 102,786,327 (GRCm39)	I194T	probably damaging	Het
Gpatch2	C	A	1: 186,965,977 (GRCm39)	T350K	probably benign	Het
Hecw1	C	T	13: 14,490,643 (GRCm39)	G783D	possibly damaging	Het
Hipk1	A	T	3: 103,671,789 (GRCm39)	W437R	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hr	C	T	14: 70,809,396 (GRCm39)	P1136S	probably damaging	Het
Il1rl2	T	A	1: 40,368,221 (GRCm39)	N130K	probably damaging	Het
Kif13b	A	G	14: 64,982,383 (GRCm39)	I532V	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Lrba	T	A	3: 86,261,066 (GRCm39)	I1474K	probably benign	Het
Luc7l3	T	C	11: 94,186,772 (GRCm39)	E371G	unknown	Het
Myo5b	T	A	18: 74,853,934 (GRCm39)	D1184E	probably benign	Het
N4bp2l2	T	C	5: 150,585,734 (GRCm39)	H82R	probably benign	Het
N4bp2l2	A	G	5: 150,585,479 (GRCm39)	M167T	probably benign	Het
Ndufaf1	T	C	2: 119,490,712 (GRCm39)	E118G	possibly damaging	Het
Nedd9	A	T	13: 41,492,153 (GRCm39)	V119E	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Ntmt1	T	A	2: 30,712,407 (GRCm39)	L150Q	probably damaging	Het
Or5b99	G	T	19: 12,976,763 (GRCm39)	V138F	probably damaging	Het
Or7g21	A	G	9: 19,033,206 (GRCm39)	*315W	probably null	Het
Or8b40	A	T	9: 38,027,496 (GRCm39)	M140L	possibly damaging	Het
Or8h7	C	T	2: 86,720,622 (GRCm39)	S299N	probably benign	Het
Osbpl8	A	G	10: 111,106,496 (GRCm39)	N301S	probably benign	Het
Pgm5	A	T	19: 24,839,003 (GRCm39)	S51T	probably benign	Het
Pitx2	A	G	3: 129,009,345 (GRCm39)	K88R	probably damaging	Het
Pnma8b	A	T	7: 16,679,964 (GRCm39)	D316V	unknown	Het
Rcor1	A	C	12: 111,070,080 (GRCm39)	K292N		Het
Rps6kc1	C	T	1: 190,532,200 (GRCm39)	D601N	probably damaging	Het
Sema7a	A	T	9: 57,862,408 (GRCm39)	I204F	probably damaging	Het
Slc29a4	T	C	5: 142,698,702 (GRCm39)	L121P	probably damaging	Het
Slc4a2	A	G	5: 24,644,308 (GRCm39)	T983A	probably benign	Het
Slc4a4	C	T	5: 89,194,158 (GRCm39)	R213*	probably null	Het
Tbc1d2	G	A	4: 46,609,029 (GRCm39)	T736I	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Trip12	A	C	1: 84,703,550 (GRCm39)	L1895R	probably damaging	Het
Ttc41	A	T	10: 86,612,594 (GRCm39)	Y1289F	probably damaging	Het
Vmn1r70	G	A	7: 10,368,016 (GRCm39)	C168Y	probably damaging	Het
Vtcn1	C	A	3: 100,795,533 (GRCm39)	R167S	probably benign	Het
Zfp369	G	A	13: 65,445,010 (GRCm39)	V718I	probably benign	Het
Zfp608	T	C	18: 55,032,354 (GRCm39)	T529A	probably benign	Het
Zfp936	A	G	7: 42,836,922 (GRCm39)	N46D	probably benign	Het
Zfp974	A	G	7: 27,610,342 (GRCm39)	V461A	possibly damaging	Het
Zgrf1	A	G	3: 127,378,312 (GRCm39)	N1024S	probably benign	Het

Other mutations in Pop1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Pop1	APN	15	34,508,875 (GRCm39)	missense	probably benign	0.00
IGL02192:Pop1	APN	15	34,529,217 (GRCm39)	missense	probably benign	0.08
IGL02680:Pop1	APN	15	34,502,619 (GRCm39)	missense	probably damaging	0.99
IGL02958:Pop1	APN	15	34,530,509 (GRCm39)	missense	probably damaging	0.99
H8562:Pop1	UTSW	15	34,530,358 (GRCm39)	missense	probably benign	0.00
PIT4802001:Pop1	UTSW	15	34,529,229 (GRCm39)	missense	probably benign	0.00
R0244:Pop1	UTSW	15	34,516,037 (GRCm39)	nonsense	probably null
R0281:Pop1	UTSW	15	34,530,004 (GRCm39)	splice site	probably null
R0453:Pop1	UTSW	15	34,526,352 (GRCm39)	missense	possibly damaging	0.82
R0579:Pop1	UTSW	15	34,510,115 (GRCm39)	missense	possibly damaging	0.68
R1054:Pop1	UTSW	15	34,509,955 (GRCm39)	missense	probably benign	0.30
R1501:Pop1	UTSW	15	34,510,503 (GRCm39)	missense	probably benign	0.01
R1614:Pop1	UTSW	15	34,530,356 (GRCm39)	missense	possibly damaging	0.46
R1994:Pop1	UTSW	15	34,530,617 (GRCm39)	missense	probably damaging	1.00
R2084:Pop1	UTSW	15	34,508,744 (GRCm39)	splice site	probably benign
R4020:Pop1	UTSW	15	34,508,926 (GRCm39)	missense	probably benign	0.01
R4550:Pop1	UTSW	15	34,529,082 (GRCm39)	missense	probably damaging	1.00
R4579:Pop1	UTSW	15	34,515,970 (GRCm39)	intron	probably benign
R5672:Pop1	UTSW	15	34,530,325 (GRCm39)	missense	possibly damaging	0.63
R6139:Pop1	UTSW	15	34,529,204 (GRCm39)	missense	probably benign	0.26
R6161:Pop1	UTSW	15	34,526,456 (GRCm39)	missense	probably damaging	1.00
R6821:Pop1	UTSW	15	34,508,785 (GRCm39)	missense	possibly damaging	0.86
R7053:Pop1	UTSW	15	34,530,421 (GRCm39)	missense	probably benign	0.01
R7195:Pop1	UTSW	15	34,510,525 (GRCm39)	missense	probably damaging	0.97
R7543:Pop1	UTSW	15	34,530,593 (GRCm39)	missense	probably damaging	1.00
R7571:Pop1	UTSW	15	34,529,093 (GRCm39)	missense	probably null	1.00
R7587:Pop1	UTSW	15	34,502,559 (GRCm39)	missense	probably damaging	0.97
R8401:Pop1	UTSW	15	34,508,755 (GRCm39)	missense	probably damaging	1.00
R8406:Pop1	UTSW	15	34,529,316 (GRCm39)	missense	probably benign
R8707:Pop1	UTSW	15	34,529,349 (GRCm39)	missense	probably benign	0.02
R9044:Pop1	UTSW	15	34,530,554 (GRCm39)	missense	possibly damaging	0.94
R9066:Pop1	UTSW	15	34,516,060 (GRCm39)	missense	possibly damaging	0.68
R9600:Pop1	UTSW	15	34,512,881 (GRCm39)	missense	probably benign	0.06
R9711:Pop1	UTSW	15	34,530,227 (GRCm39)	missense	probably benign
RF001:Pop1	UTSW	15	34,502,583 (GRCm39)	missense	probably damaging	1.00
RF002:Pop1	UTSW	15	34,502,583 (GRCm39)	missense	probably damaging	1.00
Z1088:Pop1	UTSW	15	34,499,465 (GRCm39)	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