Mutagenetix > Incidental Mutation

Incidental Mutation 'R4846:Pus1'

430143

Institutional Source

Beutler Lab

Gene Symbol

Pus1

Ensembl Gene

ENSMUSG00000029507

Gene Name

pseudouridine synthase 1

Synonyms

A730013B20Rik, mPus1p, MPUS1

MMRRC Submission

042459-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.287) question?

Stock #

R4846 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

110921533-110928523 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 110927796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031481] [ENSMUST00000031483] [ENSMUST00000031490] [ENSMUST00000086643] [ENSMUST00000112426] [ENSMUST00000136483] [ENSMUST00000170468] [ENSMUST00000149208]

AlphaFold

Q9WU56

Predicted Effect

probably benign
Transcript: ENSMUST00000031481

SMART Domains

Protein: ENSMUSP00000031481
Gene: ENSMUSG00000029507

Domain	Start	End	E-Value	Type
Pfam:PseudoU_synth_1	54	161	4.7e-13	PFAM
Pfam:PseudoU_synth_1	201	307	2.9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000031483

SMART Domains

Protein: ENSMUSP00000031483
Gene: ENSMUSG00000029507

Domain	Start	End	E-Value	Type
Pfam:PseudoU_synth_1	84	191	1.3e-11	PFAM
Pfam:PseudoU_synth_1	231	337	8.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000031490

SMART Domains

Protein: ENSMUSP00000031490
Gene: ENSMUSG00000029512

Domain	Start	End	E-Value	Type
S_TKc	16	278	3.6e-98	SMART
low complexity region	287	318	N/A	INTRINSIC
low complexity region	340	356	N/A	INTRINSIC
low complexity region	400	423	N/A	INTRINSIC
Blast:S_TKc	459	837	1e-131	BLAST
Pfam:DUF3543	838	1048	1.8e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086643

SMART Domains

Protein: ENSMUSP00000083844
Gene: ENSMUSG00000029507

Domain	Start	End	E-Value	Type
Pfam:PseudoU_synth_1	84	208	1.2e-7	PFAM
Pfam:PseudoU_synth_1	249	355	8.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112426

SMART Domains

Protein: ENSMUSP00000108045
Gene: ENSMUSG00000029507

Domain	Start	End	E-Value	Type
SCOP:d1dj0a1	48	116	1e-12	SMART
Pfam:PseudoU_synth_1	155	261	5.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132267

Predicted Effect

probably benign
Transcript: ENSMUST00000136483

SMART Domains

Protein: ENSMUSP00000115143
Gene: ENSMUSG00000029507

Domain	Start	End	E-Value	Type
Pfam:PseudoU_synth_1	54	147	2e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181141

Predicted Effect

probably benign
Transcript: ENSMUST00000170468

SMART Domains

Protein: ENSMUSP00000130814
Gene: ENSMUSG00000029507

Domain	Start	End	E-Value	Type
Pfam:PseudoU_synth_1	54	161	4.7e-13	PFAM
Pfam:PseudoU_synth_1	201	307	2.9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149208

SMART Domains

Protein: ENSMUSP00000115468
Gene: ENSMUSG00000029507

Domain	Start	End	E-Value	Type
PDB:4J37\|A	37	162	3e-57	PDB
SCOP:d1dj0a1	48	162	3e-17	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit slow postnatal weight gain, impaired exercise endurance, and alterations in muscle metabolism related to mitochondrial content and oxidative capacity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	A	14: 70,393,392 (GRCm39)	H299L	probably damaging	Het
Abcb4	C	T	5: 8,985,180 (GRCm39)	A687V	probably benign	Het
Abtb3	A	G	10: 85,465,130 (GRCm39)	T657A	probably damaging	Het
Adam20	A	G	8: 41,248,048 (GRCm39)	T53A	probably benign	Het
Afg1l	G	A	10: 42,330,490 (GRCm39)	T59I	probably benign	Het
AI837181	A	G	19: 5,476,329 (GRCm39)	Q164R	probably benign	Het
Anapc15	T	A	7: 101,546,974 (GRCm39)	I12N	probably benign	Het
Ankrd55	A	C	13: 112,499,988 (GRCm39)	E278D	probably benign	Het
Axin2	A	G	11: 108,833,125 (GRCm39)	T437A	probably benign	Het
BC051665	T	C	13: 60,931,895 (GRCm39)	D168G	probably damaging	Het
Cd200	C	T	16: 45,212,664 (GRCm39)	R261H	probably benign	Het
Clk1	G	A	1: 58,460,261 (GRCm39)	S123L	probably benign	Het
Csrnp2	A	T	15: 100,382,571 (GRCm39)	D156E	probably damaging	Het
Ctss	C	T	3: 95,452,695 (GRCm39)	Q159*	probably null	Het
Dennd2b	C	A	7: 109,156,043 (GRCm39)	E236*	probably null	Het
Dip2a	A	G	10: 76,157,327 (GRCm39)	S93P	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ephb6	G	A	6: 41,593,743 (GRCm39)	R542Q	probably benign	Het
Fmo3	T	C	1: 162,781,880 (GRCm39)	D491G	possibly damaging	Het
Galnt14	A	T	17: 73,843,888 (GRCm39)	M140K	probably benign	Het
Ghsr	T	C	3: 27,425,986 (GRCm39)	V14A	probably benign	Het
Gm17546	C	A	15: 95,727,843 (GRCm39)		probably benign	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hc	A	G	2: 34,909,682 (GRCm39)	V866A	probably benign	Het
Hoxb6	G	A	11: 96,190,348 (GRCm39)	G116R	probably damaging	Het
Hykk	A	G	9: 54,827,890 (GRCm39)	Y43C	probably damaging	Het
Jade2	T	C	11: 51,711,975 (GRCm39)	T495A	probably benign	Het
Kansl1	A	T	11: 104,233,798 (GRCm39)	V755E	possibly damaging	Het
Lrp2	T	A	2: 69,309,457 (GRCm39)	D2814V	probably damaging	Het
Mbd5	T	A	2: 49,147,009 (GRCm39)	N406K	probably damaging	Het
Met	A	T	6: 17,491,928 (GRCm39)	D230V	probably damaging	Het
Mrgprx2	A	T	7: 48,132,584 (GRCm39)	V78D	probably damaging	Het
Mrpl20	A	G	4: 155,892,993 (GRCm39)	T112A	possibly damaging	Het
Nek11	T	A	9: 105,040,362 (GRCm39)	E566D	probably damaging	Het
Nostrin	T	C	2: 69,005,923 (GRCm39)	S235P	probably damaging	Het
Npas4	C	A	19: 5,036,805 (GRCm39)	S453I	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Psg18	A	T	7: 18,084,711 (GRCm39)	Y128*	probably null	Het
Ptges3l	A	T	11: 101,310,010 (GRCm39)		probably benign	Het
Raf1	T	A	6: 115,621,544 (GRCm39)	S12C	possibly damaging	Het
Rps6-ps2	T	G	8: 89,533,206 (GRCm39)		noncoding transcript	Het
Slc5a4b	A	G	10: 75,898,073 (GRCm39)	L547P	probably damaging	Het
Socs3	A	G	11: 117,858,654 (GRCm39)	S135P	probably benign	Het
Spata31d1e	T	C	13: 59,890,047 (GRCm39)	D591G	probably benign	Het
Stra6l	G	A	4: 45,873,682 (GRCm39)	V281M	possibly damaging	Het
Suco	G	A	1: 161,661,977 (GRCm39)	T818I	possibly damaging	Het
Syde1	A	T	10: 78,424,731 (GRCm39)	V367D	probably damaging	Het
Tet3	A	T	6: 83,353,865 (GRCm39)	L932*	probably null	Het
Trpm7	G	A	2: 126,655,105 (GRCm39)	L1278F	possibly damaging	Het
Vmn1r168	A	T	7: 23,240,490 (GRCm39)	T116S	probably damaging	Het
Wfdc6b	A	G	2: 164,459,214 (GRCm39)	Q92R	possibly damaging	Het

Other mutations in Pus1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0145:Pus1	UTSW	5	110,922,720 (GRCm39)	missense	probably benign	0.09
R0242:Pus1	UTSW	5	110,927,664 (GRCm39)	missense	probably benign	0.02
R0242:Pus1	UTSW	5	110,927,664 (GRCm39)	missense	probably benign	0.02
R0486:Pus1	UTSW	5	110,927,596 (GRCm39)	missense	probably damaging	1.00
R1922:Pus1	UTSW	5	110,925,505 (GRCm39)	missense	probably damaging	1.00
R2305:Pus1	UTSW	5	110,922,826 (GRCm39)	missense	probably benign	0.08
R4528:Pus1	UTSW	5	110,922,596 (GRCm39)	missense	probably damaging	1.00
R4609:Pus1	UTSW	5	110,928,184 (GRCm39)	start codon destroyed	probably null	0.06
R5720:Pus1	UTSW	5	110,925,584 (GRCm39)	missense	probably damaging	1.00
R6207:Pus1	UTSW	5	110,925,580 (GRCm39)	missense	probably benign	0.12
R7123:Pus1	UTSW	5	110,921,798 (GRCm39)	makesense	probably null
R7449:Pus1	UTSW	5	110,922,452 (GRCm39)	missense	probably damaging	1.00
R7827:Pus1	UTSW	5	110,927,582 (GRCm39)	missense	probably damaging	1.00
R8976:Pus1	UTSW	5	110,922,789 (GRCm39)	missense	possibly damaging	0.65
RF016:Pus1	UTSW	5	110,924,424 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- GCTCTGAGTAGCATCAGGGAAC -3'
(R):5'- GTGTCCAGTTCAAACTCCGC -3'

Sequencing Primer
(F):5'- GGCCATGAGCAGCACAATTTTTC -3'
(R):5'- GTTCAAACTCCGCCCGAG -3'

Posted On

2016-09-07