Mutagenetix > Incidental Mutation

Incidental Mutation 'RF001:Pop1'

602525

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: 0.954) question?

Stock #

RF001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34495304-34530648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34502437 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 90 (G90D)

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: G90D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: G90D

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: G90D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: G90D

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: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	G	GTGGCTGCTA	1: 82,913,590		probably benign	Het
Acer1	A	G	17: 56,958,909	V122A	probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,560,921		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,643,571		probably benign	Het
Atp13a1	C	A	8: 69,800,070	A680D	probably damaging	Het
Blm	CGCCTCCTCCTC	CGCCTCCTCCTCAGCCTCCTCCTC	7: 80,512,903		probably benign	Het
Blm	CTCCTCCTCCTCCTCCTCCTCCTC	CTCCTCCTCCTCATCCTCCTCCTCCTCCTCCTCCTC	7: 80,512,906		probably benign	Het
Blm	CTCCTCC	CTCCTCCTCCTCGTCCTCC	7: 80,512,927		probably benign	Het
Cad	GT	G	5: 31,060,212		probably benign	Het
Calhm1	GC	GCTGTGGCTGTGTC	19: 47,141,276		probably benign	Het
Casz1	CACA	C	4: 148,952,304		probably benign	Het
Cherp	GACCTGGA	G	8: 72,462,049		probably null	Het
Chga	AGC	AGCTGC	12: 102,561,423		probably benign	Het
Coq7	A	G	7: 118,533,182	S24P	probably benign	Het
Cul1	T	C	6: 47,524,581	V734A	possibly damaging	Het
Cyb5r4	GCCCAGGGATGTGACAGACACACT	GCCCAGGGATGTGACAGACACACTCCCCAGGGATGTGACAGACACACT	9: 87,040,416		probably benign	Het
Dgkz	A	T	2: 91,939,941	F521I	possibly damaging	Het
Fam171b	GCAGCA	GCAGCATCAGCA	2: 83,812,886		probably benign	Het
Fat1	T	G	8: 44,988,966	S1102A	probably benign	Het
Gab3	CTT	CTTTTT	X: 75,000,018		probably benign	Het
Gm14412	T	C	2: 177,317,101	I52V	probably benign	Het
Gm5346	T	G	8: 43,626,905	D94A	possibly damaging	Het
Gm5414	T	C	15: 101,627,953	E79G	probably benign	Het
Gpc5	G	A	14: 115,417,178	S470N	probably benign	Het
Grin2b	A	G	6: 136,044,240	V21A	probably benign	Het
Hecw1	C	A	13: 14,297,424	C553F	probably damaging	Het
Hsd3b6	T	A	3: 98,806,440	H181L	probably benign	Het
Il2	CCAGGTGCTGCTGC	CC	3: 37,125,762		probably benign	Het
Inpp5f	G	A	7: 128,695,083	G1053R	probably damaging	Het
Kcnma1	T	G	14: 23,311,697	Y1142S	probably damaging	Het
Kctd8	T	C	5: 69,110,432	K445R	possibly damaging	Het
Kmt2b	CC	CCTCCTTC	7: 30,586,382		probably benign	Het
Kmt2c	TG	TGTTGCGG	5: 25,315,775		probably benign	Het
Krtap28-10	CACAGCCACAGCCACCACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCACCACAGCCACAGCCAC	1: 83,042,255		probably benign	Het
Krtap28-10	GCCACCACAGC	GCCACCACAGCCACATCCACCACAGC	1: 83,042,280		probably benign	Het
Krtap28-10	CACCAC	CACCACCGCCACCGCAACCAC	1: 83,042,282		probably benign	Het
Lama1	A	G	17: 67,752,902	D662G		Het
Lce1m	AC	ACTGCTGCTGCCCC	3: 93,018,152		probably benign	Het
Lce1m	GCTGCCACC	GCTGCCACCACTCCTGCCACC	3: 93,018,269		probably benign	Het
Lmo4	A	C	3: 144,201,862	S63A	possibly damaging	Het
Lrrk2	T	C	15: 91,736,633	I952T	probably benign	Het
Lyst	T	C	13: 13,635,841	F699L	probably benign	Het
Matn3	T	A	12: 8,958,797	D303E	probably benign	Het
Me1	A	G	9: 86,582,823	Y545H	probably damaging	Het
Mettl3	A	T	14: 52,300,299	V68E	probably benign	Het
Mptx2	T	C	1: 173,274,969	N51S	probably benign	Het
Mylk	A	G	16: 34,879,371	D368G	probably benign	Het
Myom2	T	C	8: 15,081,418	V372A	possibly damaging	Het
Neb	T	C	2: 52,195,421	D5569G	probably damaging	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGCGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,030		probably benign	Het
P4ha2	CCAGGTG	C	11: 54,110,235		probably benign	Het
Rbm12	CC	CCGGGTATTGTGGGACCAGTTATTGCGGGAGC	2: 156,096,075		probably benign	Het
Sertad4	T	C	1: 192,847,178	Y110C	probably damaging	Het
Setd1a	GGTAGTGGT	GGTAGTGGTAGTAGTGGT	7: 127,785,314		probably benign	Het
Smarca2	ACA	ACAACAGCA	19: 26,630,986		probably benign	Het
Smarca2	AGC	AGCCCCGGC	19: 26,631,021		probably benign	Het
Supt20	AGCA	AGCACCCGCA	3: 54,727,662		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,835,739		probably benign	Het
Tecpr1	A	G	5: 144,217,386	F83S	probably damaging	Het
Triobp	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	15: 78,967,027		probably benign	Het
Vmn1r48	A	T	6: 90,036,204	M213K	probably benign	Het
Zc3h4	CCC	CCCTGACATGCATCC	7: 16,429,687		probably benign	Het
Zscan29	T	C	2: 121,163,996	N503D	possibly 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
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
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'- ATAACTCACAGGTTGGCTCTAG -3'
(R):5'- CGCAATAGTCAAAGCCCAGG -3'

Sequencing Primer
(F):5'- ACTCACAGGTTGGCTCTAGAGTTAAG -3'
(R):5'- CCCAGGAGAGAGGTGAGCC -3'

Posted On

2019-12-04