Mutagenetix > Incidental Mutation

Incidental Mutation 'R5085:Pus3'

387380

Institutional Source

Beutler Lab

Gene Symbol

Pus3

Ensembl Gene

ENSMUSG00000032103

Gene Name

pseudouridine synthase 3

Synonyms

2610020J05Rik, 5730412F04Rik

MMRRC Submission

042674-MU

Accession Numbers

Essential gene?

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

Stock #

R5085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35469891-35478697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35476932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 243 (L243Q)

Ref Sequence

ENSEMBL: ENSMUSP00000034615 (fasta)

Gene Model

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

AlphaFold

Q9JI38

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034615
AA Change: L243Q

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034615
Gene: ENSMUSG00000032103
AA Change: L243Q

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
AA Change: L243Q

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113382
Gene: ENSMUSG00000032103
AA Change: L243Q

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

0.2655

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

92% (69/75)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,653,837 (GRCm39)	K129*	probably null	Het
Adamts6	A	T	13: 104,443,751 (GRCm39)	D162V	probably damaging	Het
Alms1	C	A	6: 85,597,714 (GRCm39)	P1316T	possibly damaging	Het
AU040320	A	T	4: 126,722,664 (GRCm39)	N394I	possibly damaging	Het
Cacng8	T	C	7: 3,464,096 (GRCm39)	L416P	possibly damaging	Het
Ccdc136	T	A	6: 29,419,313 (GRCm39)	N944K	probably damaging	Het
Clcn1	C	T	6: 42,290,814 (GRCm39)	T896I	probably benign	Het
Col16a1	A	T	4: 129,947,964 (GRCm39)	Y228F	probably damaging	Het
Cyfip1	A	G	7: 55,548,083 (GRCm39)	D561G	probably benign	Het
Ddr1	T	A	17: 35,993,667 (GRCm39)		probably null	Het
Dedd2	A	T	7: 24,918,411 (GRCm39)	L48Q	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dph3b-ps	A	G	13: 106,683,558 (GRCm39)		noncoding transcript	Het
Dppa3	T	C	6: 122,606,891 (GRCm39)	F127S	probably damaging	Het
Dpy19l4	C	T	4: 11,265,943 (GRCm39)		probably null	Het
Flrt3	T	C	2: 140,502,177 (GRCm39)	T484A	probably damaging	Het
Gldc	T	C	19: 30,128,936 (GRCm39)	E179G	probably damaging	Het
Gm14403	A	G	2: 177,200,282 (GRCm39)	E76G	probably benign	Het
Gm6421	G	A	13: 117,494,969 (GRCm39)		noncoding transcript	Het
Grk5	T	C	19: 61,065,122 (GRCm39)	V262A	probably damaging	Het
Grp	A	G	18: 66,013,230 (GRCm39)	Q132R	probably benign	Het
Hap1	A	G	11: 100,246,537 (GRCm39)	F123L	probably damaging	Het
Hrc	A	G	7: 44,986,445 (GRCm39)	D532G	probably damaging	Het
Igsf9b	C	A	9: 27,228,733 (GRCm39)	F164L	probably benign	Het
Irag1	G	T	7: 110,470,700 (GRCm39)	L672I	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kansl1	C	T	11: 104,315,168 (GRCm39)	R290Q	probably damaging	Het
Kifc2	T	A	15: 76,545,496 (GRCm39)	L81Q	probably damaging	Het
Klrc3	T	C	6: 129,616,538 (GRCm39)	R160G	probably damaging	Het
Mal	A	G	2: 127,482,193 (GRCm39)	M70T	probably benign	Het
Mep1a	T	G	17: 43,789,035 (GRCm39)	R580S	probably damaging	Het
Methig1	A	T	15: 100,251,130 (GRCm39)	I14F	probably damaging	Het
Mtf1	T	C	4: 124,715,101 (GRCm39)	L242P	probably damaging	Het
Nfkb1	C	A	3: 135,309,568 (GRCm39)	A509S	probably benign	Het
Or2h2b-ps1	C	G	17: 37,480,858 (GRCm39)	S227T	probably benign	Het
Or2n1b	G	A	17: 38,460,003 (GRCm39)	D175N	probably damaging	Het
Or5ac24	A	T	16: 59,165,449 (GRCm39)	I205K	probably damaging	Het
Or7a36	G	T	10: 78,819,928 (GRCm39)	M101I	probably benign	Het
Or8k23	A	T	2: 86,186,318 (GRCm39)	M136K	probably damaging	Het
Pabpc2	A	T	18: 39,907,635 (GRCm39)	N300I	probably damaging	Het
Peg10	C	T	6: 4,755,864 (GRCm39)		probably benign	Het
Ppp1r3a	T	A	6: 14,719,603 (GRCm39)	D437V	probably damaging	Het
Prickle1	A	G	15: 93,398,783 (GRCm39)	S682P	probably damaging	Het
Prkab2	T	C	3: 97,580,308 (GRCm39)		probably benign	Het
Relch	A	G	1: 105,605,905 (GRCm39)	S182G	probably damaging	Het
Rgs19	G	A	2: 181,331,336 (GRCm39)	T99M	possibly damaging	Het
Ripk2	A	G	4: 16,127,663 (GRCm39)	S360P	possibly damaging	Het
Rock1	A	G	18: 10,140,210 (GRCm39)	I127T	probably damaging	Het
Serpinb10	T	G	1: 107,469,947 (GRCm39)	M143R	probably damaging	Het
Sipa1l3	G	A	7: 29,048,000 (GRCm39)	S247F	probably damaging	Het
Skint6	T	A	4: 113,093,465 (GRCm39)	Q226L	probably damaging	Het
Slc6a19	T	C	13: 73,839,872 (GRCm39)	M137V	probably benign	Het
Supv3l1	A	T	10: 62,271,291 (GRCm39)	N415K	probably benign	Het
Tekt4	A	G	17: 25,692,749 (GRCm39)	R192G	probably damaging	Het
Trgv7	A	T	13: 19,362,598 (GRCm39)	K96*	probably null	Het
Tshz1	T	C	18: 84,032,053 (GRCm39)	N785S	probably benign	Het
Usb1	A	G	8: 96,070,679 (GRCm39)	T202A	probably damaging	Het
Utp18	A	T	11: 93,761,363 (GRCm39)	D348E	possibly damaging	Het
Vmn1r42	T	G	6: 89,821,598 (GRCm39)	I324L	probably benign	Het
Wnt8a	A	T	18: 34,678,656 (GRCm39)	R157*	probably null	Het
Ypel1	A	G	16: 16,902,472 (GRCm39)		probably null	Het
Zfp235	A	G	7: 23,836,546 (GRCm39)	K31E	probably damaging	Het
Zhx2	G	C	15: 57,686,089 (GRCm39)	W486S	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
R3832:Pus3	UTSW	9	35,477,874 (GRCm39)	missense	probably benign	0.37
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
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'- CAGACATCCGAGTATTGGCCTG -3'
(R):5'- CAGCAATTCATCAATAATCTCTGGC -3'

Sequencing Primer
(F):5'- TGTAGAACCTAGCTTCAGTGC -3'
(R):5'- AATTCATCAATAATCTCTGGCTTCTC -3'

Posted On

2016-06-06