Mutagenetix > Incidental Mutation

Incidental Mutation 'R0376:Pus3'

30758

Institutional Source

Beutler Lab

Gene Symbol

Pus3

Ensembl Gene

ENSMUSG00000032103

Gene Name

pseudouridine synthase 3

Synonyms

2610020J05Rik, 5730412F04Rik

MMRRC Submission

038582-MU

Accession Numbers

Essential gene?

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

Stock #

R0376 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35469891-35478697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35477718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 317 (M317L)

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: M317L

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034615
Gene: ENSMUSG00000032103
AA Change: M317L

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

0.1908

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.0%

Validation Efficiency

100% (58/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	T	C	12: 113,508,310 (GRCm39)	Y228H	probably damaging	Het
Als2	A	G	1: 59,254,724 (GRCm39)	F211S	probably benign	Het
Ankrd12	T	A	17: 66,360,004 (GRCm39)	Q11L	probably damaging	Het
Anxa5	T	C	3: 36,514,637 (GRCm39)	R115G	probably damaging	Het
Arhgap10	T	C	8: 78,177,453 (GRCm39)		probably benign	Het
Atp2a3	T	A	11: 72,873,528 (GRCm39)	D782E	probably damaging	Het
Bcr	G	T	10: 74,981,159 (GRCm39)	L659F	probably damaging	Het
Cacna1b	A	G	2: 24,549,015 (GRCm39)		probably benign	Het
Camp	C	T	9: 109,677,467 (GRCm39)	C122Y	probably damaging	Het
Cimip1	G	A	2: 173,370,120 (GRCm39)	E132K	probably benign	Het
Col12a1	A	T	9: 79,600,776 (GRCm39)	S769R	probably benign	Het
Cyp2j6	T	A	4: 96,414,260 (GRCm39)	K335I	probably damaging	Het
Cyp3a11	A	C	5: 145,799,262 (GRCm39)	Y308*	probably null	Het
Flnb	G	A	14: 7,946,014 (GRCm38)		probably null	Het
Frmd4a	G	T	2: 4,577,198 (GRCm39)	M351I	probably damaging	Het
Gabrg2	C	T	11: 41,807,142 (GRCm39)	S365N	possibly damaging	Het
Ggn	T	C	7: 28,872,447 (GRCm39)	V609A	possibly damaging	Het
H60c	T	C	10: 3,210,435 (GRCm39)		probably benign	Het
Hexd	T	A	11: 121,108,991 (GRCm39)		probably benign	Het
Igsf9b	A	G	9: 27,245,878 (GRCm39)	T1282A	probably benign	Het
Ikzf4	T	C	10: 128,468,625 (GRCm39)	N618S	probably benign	Het
Ints14	A	G	9: 64,891,272 (GRCm39)	K418E	probably damaging	Het
Iqgap1	T	C	7: 80,373,627 (GRCm39)	E1454G	probably benign	Het
Kif13b	T	C	14: 64,994,853 (GRCm39)		probably benign	Het
Krt71	A	C	15: 101,646,505 (GRCm39)	F328C	probably damaging	Het
Lama2	T	C	10: 26,891,542 (GRCm39)	T2524A	possibly damaging	Het
Mfn2	C	T	4: 147,969,983 (GRCm39)	V363I	probably benign	Het
Mkln1	A	T	6: 31,454,953 (GRCm39)	D496V	probably benign	Het
Or2q1	A	T	6: 42,795,226 (GRCm39)	M274L	probably benign	Het
Patj	T	A	4: 98,457,224 (GRCm39)	I1242N	probably damaging	Het
Pcnx1	C	T	12: 82,021,353 (GRCm39)		probably benign	Het
Plcb2	T	C	2: 118,547,721 (GRCm39)	E502G	probably damaging	Het
Plppr4	G	T	3: 117,116,740 (GRCm39)	H314Q	probably benign	Het
Prkcsh	A	G	9: 21,921,547 (GRCm39)		probably benign	Het
Prr14	C	T	7: 127,075,815 (GRCm39)	H181Y	probably benign	Het
Pwwp2a	T	A	11: 43,595,499 (GRCm39)	D221E	probably benign	Het
Rbm15	T	C	3: 107,238,254 (GRCm39)	S715G	probably benign	Het
Rbm28	A	G	6: 29,158,927 (GRCm39)		probably benign	Het
Rhobtb2	A	T	14: 70,034,184 (GRCm39)	V347E	probably benign	Het
Rimbp2	C	T	5: 128,880,925 (GRCm39)	R161Q	probably damaging	Het
Scgb1b27	C	T	7: 33,721,322 (GRCm39)	T70I	possibly damaging	Het
Slc40a1	T	C	1: 45,951,651 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spaca9	A	G	2: 28,583,672 (GRCm39)	V104A	probably benign	Het
Spag7	T	C	11: 70,560,016 (GRCm39)		probably benign	Het
Sugp1	A	G	8: 70,505,288 (GRCm39)	D85G	probably damaging	Het
Sun1	A	G	5: 139,212,454 (GRCm39)		probably benign	Het
Tcp11l1	C	A	2: 104,527,850 (GRCm39)		probably benign	Het
Tead3	A	C	17: 28,560,339 (GRCm39)	D88E	probably damaging	Het
Tecpr1	A	T	5: 144,144,294 (GRCm39)	V636E	possibly damaging	Het
Tldc2	T	C	2: 156,937,225 (GRCm39)	W147R	probably damaging	Het
Tmem161b	A	G	13: 84,440,502 (GRCm39)	T125A	probably benign	Het
Trrap	A	G	5: 144,753,149 (GRCm39)	M1825V	probably benign	Het
Ttbk2	A	G	2: 120,608,062 (GRCm39)	F186L	probably damaging	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Zc3h7a	T	C	16: 10,974,066 (GRCm39)	M240V	probably benign	Het
Zc3hc1	G	C	6: 30,372,789 (GRCm39)	S351W	probably damaging	Het
Zfp366	T	C	13: 99,370,759 (GRCm39)	M493T	probably benign	Het
Zfp93	C	T	7: 23,975,286 (GRCm39)	P424S	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
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
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'- AGCCCATGTCTTGATTTGTTACCACTG -3'
(R):5'- GCATTTTCACTCCTTCTACAAAGGCAC -3'

Sequencing Primer
(F):5'- CCACTGACATTTACTTAGTACAGGTC -3'
(R):5'- TGCTGCACATGTTACCATAACAG -3'

Posted On

2013-04-24