Mutagenetix > Incidental Mutations

Incidental Mutation 'R0018:Pus3'

19065

Institutional Source

Beutler Lab

Gene Symbol

Pus3

Ensembl Gene

ENSMUSG00000032103

Gene Name

pseudouridine synthase 3

Synonyms

5730412F04Rik, 2610020J05Rik

MMRRC Submission

038313-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R0018 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

35558595-35567401 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35566624 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 384 (D384G)

Ref Sequence

ENSEMBL: ENSMUSP00000034615 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034615] [ENSMUST00000098906] [ENSMUST00000115110] [ENSMUST00000121246]

AlphaFold

Q9JI38

Predicted Effect

probably benign
Transcript: ENSMUST00000034615
AA Change: D384G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034615
Gene: ENSMUSG00000032103
AA Change: D384G

Domain	Start	End	E-Value	Type
coiled coil region	1	46	N/A	INTRINSIC
Pfam:PseudoU_synth_1	68	190	6.8e-12	PFAM
Pfam:PseudoU_synth_1	213	331	4.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098906

SMART Domains

Protein: ENSMUSP00000096505
Gene: ENSMUSG00000074452

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115110

SMART Domains

Protein: ENSMUSP00000110762
Gene: ENSMUSG00000050555

Domain	Start	End	E-Value	Type
low complexity region	87	100	N/A	INTRINSIC
Pfam:HYLS1_C	211	299	6.4e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121246

SMART Domains

Protein: ENSMUSP00000113382
Gene: ENSMUSG00000032103

Domain	Start	End	E-Value	Type
coiled coil region	1	46	N/A	INTRINSIC
Pfam:PseudoU_synth_1	68	190	3e-12	PFAM
Pfam:PseudoU_synth_1	213	316	1.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135768

Meta Mutation Damage Score

0.0803

Coding Region Coverage

1x: 82.8%
3x: 76.3%
10x: 59.3%
20x: 41.5%

Validation Efficiency

90% (80/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b4	T	A	1: 133,717,871	I982F	probably damaging	Het
BC024139	G	A	15: 76,120,887	Q592*	probably null	Het
Capn7	T	A	14: 31,354,112	C290*	probably null	Het
Celsr1	T	A	15: 86,031,042	D910V	possibly damaging	Het
Cpne2	T	A	8: 94,556,053	C59S	possibly damaging	Het
Cyp2b13	G	A	7: 26,085,950	R248H	probably benign	Het
Dennd1a	T	A	2: 37,858,460	T336S	possibly damaging	Het
Drc7	A	G	8: 95,074,234	Y628C	probably damaging	Het
Dse	A	G	10: 34,153,468	V542A	probably benign	Het
Gria4	A	G	9: 4,432,843	L780P	possibly damaging	Het
Gsx2	A	G	5: 75,077,167	K260R	probably damaging	Het
Kat6a	A	G	8: 22,929,273	D684G	possibly damaging	Het
Kif27	T	G	13: 58,288,053	I1309L	probably benign	Het
Me2	A	T	18: 73,791,852	F265I	possibly damaging	Het
Myo9a	A	T	9: 59,871,724	T1588S	probably benign	Het
Neu4	T	A	1: 94,025,338	D476E	probably benign	Het
Nlrp9c	T	A	7: 26,371,998	Q895L	possibly damaging	Het
Nudt8	C	T	19: 4,001,152		probably benign	Het
Ppfia2	A	G	10: 106,842,786		probably benign	Het
Prkdc	T	C	16: 15,726,542	Y1799H	probably benign	Het
Psmc1	T	C	12: 100,116,692		probably benign	Het
Rasa2	A	G	9: 96,571,963	S307P	probably damaging	Het
Rbpms2	A	G	9: 65,651,078	D142G	probably damaging	Het
Slc13a5	T	C	11: 72,266,475	I31V	probably benign	Het
Slc15a4	A	T	5: 127,602,010	I422N	probably damaging	Het
Slc26a6	G	T	9: 108,858,922		probably null	Het
Ufm1	A	T	3: 53,859,196	I79N	probably benign	Het
Xdh	C	T	17: 73,925,025	R230H	probably benign	Het
Zfp418	A	T	7: 7,182,450	S471C	probably benign	Het

Other mutations in Pus3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0018:Pus3	UTSW	9	35566624	missense	probably benign
R0376:Pus3	UTSW	9	35566422	missense	possibly damaging	0.51
R0927:Pus3	UTSW	9	35565031	missense	probably damaging	1.00
R3407:Pus3	UTSW	9	35566725	missense	probably damaging	1.00
R3766:Pus3	UTSW	9	35566672	missense	probably benign	0.01
R3832:Pus3	UTSW	9	35566578	missense	probably benign	0.37
R3833:Pus3	UTSW	9	35566578	missense	probably benign	0.37
R4655:Pus3	UTSW	9	35564932	missense	probably benign	0.00
R5085:Pus3	UTSW	9	35565636	missense	possibly damaging	0.93
R7238:Pus3	UTSW	9	35566669	missense	probably benign
R7807:Pus3	UTSW	9	35566725	missense	probably damaging	1.00
R9100:Pus3	UTSW	9	35565650	missense	probably benign
X0027:Pus3	UTSW	9	35566456	missense	probably damaging	1.00

Posted On

2013-03-25