Mutagenetix > Incidental Mutation

Incidental Mutation 'H8562:Pop1'

44389

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 #

H8562 (G3) of strain 604

Quality Score

199

Status

Not validated

Chromosome

Chromosomal Location

34495457-34530799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34530358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 919 (S919P)

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: S949P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: S949P

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: S919P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: S919P

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

96% (109/114)

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,771,717 (GRCm39)	C400R	probably damaging	Het
4930519F16Rik	A	T	X: 102,299,463 (GRCm39)		noncoding transcript	Het
5430402E10Rik	G	T	X: 76,966,340 (GRCm39)	H117Q	probably damaging	Het
Abca15	T	C	7: 119,974,077 (GRCm39)		probably benign	Het
Abca8a	A	G	11: 109,933,835 (GRCm39)	I1190T	probably benign	Het
Acmsd	T	C	1: 127,676,795 (GRCm39)	Y107H	probably benign	Het
Adcy5	A	G	16: 35,087,551 (GRCm39)	I471V	probably damaging	Het
Aff2	G	A	X: 68,892,532 (GRCm39)	A939T	unknown	Het
Ampd2	C	A	3: 107,988,427 (GRCm39)	A11S	probably benign	Het
Aoah	T	A	13: 21,000,694 (GRCm39)	C43S	probably damaging	Het
Apobec4	T	C	1: 152,632,925 (GRCm39)	S318P	probably damaging	Het
Arid2	C	T	15: 96,267,427 (GRCm39)	P636S	possibly damaging	Het
Atp13a3	A	T	16: 30,178,543 (GRCm39)	C164*	probably null	Het
Avl9	G	A	6: 56,734,295 (GRCm39)	A625T	probably damaging	Het
Bco1	G	T	8: 117,832,386 (GRCm39)		probably benign	Het
Brd3	C	T	2: 27,340,545 (GRCm39)	G555S	possibly damaging	Het
Brd4	A	T	17: 32,448,377 (GRCm39)		probably benign	Het
Btbd7	A	G	12: 102,754,561 (GRCm39)	V735A	probably benign	Het
C2cd2	G	T	16: 97,680,840 (GRCm39)	Q325K	possibly damaging	Het
Carmil1	A	G	13: 24,248,630 (GRCm39)	V485A	probably benign	Het
Casz1	T	C	4: 149,017,908 (GRCm39)	L113P	probably damaging	Het
Ccdc3	T	C	2: 5,143,016 (GRCm39)	L91S	probably damaging	Het
Cd180	A	G	13: 102,841,926 (GRCm39)	K324R	probably benign	Het
Cd200r4	A	G	16: 44,653,736 (GRCm39)	T132A	possibly damaging	Het
Cops7a	A	G	6: 124,939,416 (GRCm39)		probably benign	Het
Cyp2c29	A	T	19: 39,298,106 (GRCm39)	N217I	probably damaging	Het
Dapk1	C	A	13: 60,909,126 (GRCm39)	H1246Q	probably damaging	Het
Dmbt1	T	A	7: 130,713,805 (GRCm39)	C1450*	probably null	Het
Dnah10	T	A	5: 124,906,593 (GRCm39)	M4151K	probably damaging	Het
Dnai1	C	A	4: 41,629,833 (GRCm39)	F452L	possibly damaging	Het
Dync1h1	T	C	12: 110,583,241 (GRCm39)	M446T	probably benign	Het
Dytn	A	C	1: 63,714,071 (GRCm39)	S143A	possibly damaging	Het
E130308A19Rik	T	A	4: 59,691,033 (GRCm39)	L289Q	possibly damaging	Het
Efemp2	G	T	19: 5,530,677 (GRCm39)	V250L	probably benign	Het
Elmo1	T	C	13: 20,465,033 (GRCm39)	S201P	probably damaging	Het
Fam222b	T	A	11: 78,045,404 (GRCm39)	C194S	probably damaging	Het
Fam91a1	G	A	15: 58,298,970 (GRCm39)		probably null	Het
Fcf1	T	A	12: 85,027,386 (GRCm39)		probably benign	Het
Fnip1	T	A	11: 54,371,123 (GRCm39)	F134L	probably damaging	Het
Fyn	T	C	10: 39,387,950 (GRCm39)	S69P	probably benign	Het
Gabbr1	T	C	17: 37,382,841 (GRCm39)	Y845H	probably damaging	Het
Gfra2	C	T	14: 71,215,818 (GRCm39)	T169M	possibly damaging	Het
Gm5435	T	C	12: 82,542,449 (GRCm39)		noncoding transcript	Het
Gm7251	A	G	13: 49,959,148 (GRCm39)	Y94H	probably damaging	Het
Gvin3	A	G	7: 106,202,356 (GRCm39)	F296S	probably damaging	Het
H2bc15	T	C	13: 21,938,648 (GRCm39)	V119A	probably benign	Het
Heatr1	T	A	13: 12,423,594 (GRCm39)	N530K	probably benign	Het
Icam5	A	T	9: 20,946,442 (GRCm39)	E355V	probably benign	Het
Ighv3-6	A	G	12: 114,252,158 (GRCm39)		probably benign	Het
Intu	T	C	3: 40,647,103 (GRCm39)	S659P	probably damaging	Het
Ivns1abp	T	C	1: 151,230,446 (GRCm39)	V198A	probably damaging	Het
Katnb1	T	A	8: 95,822,138 (GRCm39)		probably benign	Het
Kcna5	T	C	6: 126,510,386 (GRCm39)	S581G	probably damaging	Het
Kif23	A	G	9: 61,831,347 (GRCm39)	V741A	probably benign	Het
Lbr	A	T	1: 181,648,233 (GRCm39)		probably benign	Het
Loxhd1	A	C	18: 77,429,627 (GRCm39)	T508P	possibly damaging	Het
Lrrk2	T	A	15: 91,557,561 (GRCm39)	N26K	probably benign	Het
Ly96	A	T	1: 16,761,918 (GRCm39)	K41N	probably damaging	Het
Lypd1	C	T	1: 125,838,274 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,359,833 (GRCm39)	V1817A	probably benign	Het
Mknk2	A	G	10: 80,504,768 (GRCm39)		probably benign	Het
Mmp19	A	T	10: 128,631,470 (GRCm39)	I117L	probably benign	Het
Mmrn1	G	A	6: 60,935,164 (GRCm39)	G220D	probably damaging	Het
Mtrr	T	C	13: 68,712,496 (GRCm39)	H630R	probably damaging	Het
Nfat5	T	C	8: 108,066,014 (GRCm39)		probably benign	Het
Ngef	C	A	1: 87,415,529 (GRCm39)	K288N	possibly damaging	Het
Nkain4	T	C	2: 180,584,938 (GRCm39)	E71G	probably benign	Het
Odc1	T	C	12: 17,598,038 (GRCm39)	Y122H	probably benign	Het
Or1e25	T	C	11: 73,494,273 (GRCm39)	I289T	probably damaging	Het
Or2d2	C	A	7: 106,728,448 (GRCm39)	A51S	probably benign	Het
Or8g51	C	A	9: 38,609,206 (GRCm39)	G156V	probably damaging	Het
Osbpl3	A	T	6: 50,324,446 (GRCm39)	N190K	probably benign	Het
Osgepl1	T	C	1: 53,354,198 (GRCm39)	V54A	probably damaging	Het
Otogl	T	C	10: 107,746,817 (GRCm39)	Y19C	probably benign	Het
Pramel21	T	A	4: 143,341,920 (GRCm39)		probably benign	Het
Prl8a9	A	G	13: 27,746,584 (GRCm39)		probably benign	Het
Prr14l	A	T	5: 32,951,072 (GRCm39)	V1907D	probably damaging	Het
Ptprn	T	C	1: 75,231,264 (GRCm39)	T547A	possibly damaging	Het
Rdh14	G	T	12: 10,444,709 (GRCm39)	V187F	probably damaging	Het
Rev1	A	G	1: 38,095,848 (GRCm39)	L853P	probably damaging	Het
Robo4	T	C	9: 37,317,106 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,732,027 (GRCm39)		probably benign	Het
Sec16a	G	A	2: 26,331,517 (GRCm39)	P166L	probably benign	Het
Slc6a19	G	A	13: 73,848,243 (GRCm39)		probably benign	Het
Slco4c1	T	A	1: 96,770,210 (GRCm39)	T285S	probably benign	Het
Speg	G	T	1: 75,392,241 (GRCm39)	A1633S	probably benign	Het
Srpk1	T	A	17: 28,821,707 (GRCm39)	T236S	probably benign	Het
Stxbp5	T	C	10: 9,645,187 (GRCm39)	N262S	probably benign	Het
Suco	T	C	1: 161,680,420 (GRCm39)	E317G	probably damaging	Het
Syk	A	G	13: 52,794,657 (GRCm39)	N441D	probably damaging	Het
Syt17	T	C	7: 118,007,292 (GRCm39)	K334R	probably benign	Het
Sytl5	A	T	X: 9,826,335 (GRCm39)	H436L	probably benign	Het
Tasor2	A	T	13: 3,627,000 (GRCm39)	S983R	probably damaging	Het
Thada	A	G	17: 84,753,972 (GRCm39)	L333P	probably damaging	Het
Thap12	T	C	7: 98,364,314 (GRCm39)	Y161H	probably damaging	Het
Thbs2	C	T	17: 14,891,715 (GRCm39)	V941I	probably benign	Het
Tktl1	A	T	X: 73,225,470 (GRCm39)	E72V	probably damaging	Het
Tm4sf5	T	A	11: 70,396,338 (GRCm39)		probably benign	Het
Urb1	T	A	16: 90,566,357 (GRCm39)	M1477L	probably benign	Het
Vcp	T	A	4: 42,982,596 (GRCm39)	I699F	probably damaging	Het
Vmn1r232	T	C	17: 21,133,656 (GRCm39)	T315A	probably benign	Het
Vmn2r100	T	A	17: 19,741,752 (GRCm39)	W155R	possibly damaging	Het
Vmn2r19	T	C	6: 123,292,861 (GRCm39)	I301T	possibly damaging	Het
Wwc2	A	G	8: 48,373,701 (GRCm39)	V55A	possibly damaging	Het
Xirp2	A	G	2: 67,345,801 (GRCm39)	T2681A	probably benign	Het
Zfp39	C	A	11: 58,791,512 (GRCm39)	L58F	probably damaging	Het
Zfp612	T	C	8: 110,816,670 (GRCm39)	F587L	probably damaging	Het
Zfp810	T	C	9: 22,190,387 (GRCm39)	R174G	probably benign	Het
Zfta	A	G	19: 7,400,286 (GRCm39)	K251E	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
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
R9236:Pop1	UTSW	15	34,499,558 (GRCm39)	missense	probably damaging	0.98
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'- TTCTGAATGACTTCCCCAGAGCCC -3'
(R):5'- GGACAACATTTCCAGCAAGCCG -3'

Sequencing Primer
(F):5'- CTTGTCCCTGCTCAGGAAG -3'
(R):5'- TTCCAGCAAGCCGGTCATAC -3'

Posted On

2013-06-11