Mutagenetix > Incidental Mutation

Incidental Mutation 'R3832:Pus3'

274064

Institutional Source

Beutler Lab

Gene Symbol

Pus3

Ensembl Gene

ENSMUSG00000032103

Gene Name

pseudouridine synthase 3

Synonyms

2610020J05Rik, 5730412F04Rik

MMRRC Submission

040887-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R3832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35469891-35478697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 35477874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 369 (G369R)

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: G369R

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034615
Gene: ENSMUSG00000032103
AA Change: G369R

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

0.3722

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	C	15: 94,229,339 (GRCm39)	C927G	probably damaging	Het
Afdn	T	A	17: 14,116,436 (GRCm39)	D190E	probably benign	Het
Aldh1a7	T	C	19: 20,685,602 (GRCm39)	Y316C	probably damaging	Het
Arhgef38	T	C	3: 132,912,686 (GRCm39)	R118G	possibly damaging	Het
Bcar3	A	G	3: 122,220,298 (GRCm39)	D65G	probably damaging	Het
Cacna1i	T	C	15: 80,240,388 (GRCm39)	F370S	probably damaging	Het
Cacnb2	A	T	2: 14,986,236 (GRCm39)	I338F	probably damaging	Het
Cblc	T	C	7: 19,526,097 (GRCm39)	M238V	probably damaging	Het
Ccdc3	A	G	2: 5,233,953 (GRCm39)	N259S	probably benign	Het
Cep55	A	G	19: 38,041,560 (GRCm39)		probably benign	Het
Col6a1	T	C	10: 76,546,951 (GRCm39)	D757G	unknown	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyb5d2	G	T	11: 72,686,349 (GRCm39)	S80R	possibly damaging	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Erich3	G	A	3: 154,467,998 (GRCm39)	V817M	probably damaging	Het
Gdf6	T	C	4: 9,844,568 (GRCm39)	S31P	probably benign	Het
Gtsf1	T	C	15: 103,333,902 (GRCm39)	I25V	probably damaging	Het
Hephl1	T	C	9: 14,981,044 (GRCm39)	E796G	probably damaging	Het
Iglv2	A	T	16: 19,079,593 (GRCm39)	M1K	probably null	Het
Kif26b	GAAA	GAA	1: 178,744,181 (GRCm39)		probably null	Het
Klhl28	C	A	12: 64,998,195 (GRCm39)	G433V	probably damaging	Het
Lipn	T	C	19: 34,046,933 (GRCm39)		probably null	Het
Lypd10	T	A	7: 24,413,712 (GRCm39)	S243T	probably benign	Het
Mapk7	A	G	11: 61,380,680 (GRCm39)	S641P	possibly damaging	Het
Med22	A	G	2: 26,800,379 (GRCm39)	S17P	probably damaging	Het
Or14c44	A	T	7: 86,062,401 (GRCm39)	Y277F	probably damaging	Het
Or14j5	T	C	17: 38,162,071 (GRCm39)	V196A	probably benign	Het
Otud1	G	C	2: 19,662,951 (GRCm39)	A27P	possibly damaging	Het
Pcdhga6	A	T	18: 37,841,479 (GRCm39)	N400Y	probably damaging	Het
Pdgfd	T	C	9: 6,359,762 (GRCm39)	S278P	probably damaging	Het
Pdzd7	A	T	19: 45,028,693 (GRCm39)	V150E	probably damaging	Het
Peak1	T	C	9: 56,165,667 (GRCm39)	S754G	probably benign	Het
Phf14	A	G	6: 11,933,873 (GRCm39)		probably null	Het
Phlpp1	G	A	1: 106,320,327 (GRCm39)	E1441K	probably damaging	Het
Piezo2	A	G	18: 63,214,733 (GRCm39)		probably null	Het
Pikfyve	G	A	1: 65,283,579 (GRCm39)	V739I	probably damaging	Het
Plcg1	T	G	2: 160,596,357 (GRCm39)	M651R	possibly damaging	Het
Prex2	T	C	1: 11,226,588 (GRCm39)		probably benign	Het
Rab11fip1	G	A	8: 27,642,774 (GRCm39)	T675I	probably benign	Het
Scarf1	T	C	11: 75,406,078 (GRCm39)	C121R	probably damaging	Het
Sco1	T	C	11: 66,944,605 (GRCm39)	V76A	probably damaging	Het
Slc39a8	T	A	3: 135,554,894 (GRCm39)	C113S	probably damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Snd1	G	T	6: 28,531,403 (GRCm39)		probably benign	Het
Tbc1d9	A	G	8: 83,960,292 (GRCm39)	S182G	probably damaging	Het
Tecta	A	C	9: 42,250,329 (GRCm39)	F1816C	probably damaging	Het
Tekt1	T	C	11: 72,245,645 (GRCm39)	N170S	probably benign	Het
Trim47	T	C	11: 115,998,783 (GRCm39)	T279A	probably benign	Het
Ttll4	A	G	1: 74,725,550 (GRCm39)	K653E	probably damaging	Het
Vcam1	T	C	3: 115,908,140 (GRCm39)	T641A	possibly damaging	Het
Vmn1r16	A	G	6: 57,300,212 (GRCm39)	F137L	probably benign	Het
Vmn2r17	T	A	5: 109,576,262 (GRCm39)	W378R	probably damaging	Het
Zfp777	T	C	6: 48,021,149 (GRCm39)	T158A	probably benign	Het
Zp1	T	C	19: 10,893,888 (GRCm39)	D439G	probably damaging	Het

Other mutations in Pus3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0018:Pus3	UTSW	9	35,477,920 (GRCm39)	missense	probably benign
R0018:Pus3	UTSW	9	35,477,920 (GRCm39)	missense	probably benign
R0376:Pus3	UTSW	9	35,477,718 (GRCm39)	missense	possibly damaging	0.51
R0927:Pus3	UTSW	9	35,476,327 (GRCm39)	missense	probably damaging	1.00
R3407:Pus3	UTSW	9	35,478,021 (GRCm39)	missense	probably damaging	1.00
R3766:Pus3	UTSW	9	35,477,968 (GRCm39)	missense	probably benign	0.01
R3833:Pus3	UTSW	9	35,477,874 (GRCm39)	missense	probably benign	0.37
R4655:Pus3	UTSW	9	35,476,228 (GRCm39)	missense	probably benign	0.00
R5085:Pus3	UTSW	9	35,476,932 (GRCm39)	missense	possibly damaging	0.93
R7238:Pus3	UTSW	9	35,477,965 (GRCm39)	missense	probably benign
R7807:Pus3	UTSW	9	35,478,021 (GRCm39)	missense	probably damaging	1.00
R9100:Pus3	UTSW	9	35,476,946 (GRCm39)	missense	probably benign
X0027:Pus3	UTSW	9	35,477,752 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAACCATTGGCTAACTGCTGTG -3'
(R):5'- CTCACAAAATGCCGGATCCG -3'

Sequencing Primer
(F):5'- AACCATTGGCTAACTGCTGTGTATTC -3'
(R):5'- GATCCGGGATTCCAGTCCTTG -3'

Posted On

2015-04-02