Mutagenetix > Incidental Mutation

Incidental Mutation 'R0242:Pus1'

59543

Institutional Source

Beutler Lab

Gene Symbol

Pus1

Ensembl Gene

ENSMUSG00000029507

Gene Name

pseudouridine synthase 1

Synonyms

MPUS1, A730013B20Rik, mPus1p

MMRRC Submission

038480-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.353) question?

Stock #

R0242 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110773667-110780659 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110779798 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 30 (H30Q)

Ref Sequence

ENSEMBL: ENSMUSP00000115468 (fasta)

Gene Model

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

AlphaFold

Q9WU56

Predicted Effect

probably benign
Transcript: ENSMUST00000031481
AA Change: H30Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031481
Gene: ENSMUSG00000029507
AA Change: H30Q

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
AA Change: H60Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031483
Gene: ENSMUSG00000029507
AA Change: H60Q

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
AA Change: H60Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000083844
Gene: ENSMUSG00000029507
AA Change: H60Q

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
AA Change: H30Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000108045
Gene: ENSMUSG00000029507
AA Change: H30Q

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
AA Change: H30Q

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000115143
Gene: ENSMUSG00000029507
AA Change: H30Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149208
AA Change: H30Q

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000115468
Gene: ENSMUSG00000029507
AA Change: H30Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170468
AA Change: H30Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130814
Gene: ENSMUSG00000029507
AA Change: H30Q

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

noncoding transcript
Transcript: ENSMUST00000181141

Meta Mutation Damage Score

0.0666

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.5%

Validation Efficiency

97% (110/113)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,551,676 (GRCm38)	D230G	probably benign	Het
4930435E12Rik	C	T	16: 38,824,567 (GRCm38)		probably benign	Het
Abhd13	A	G	8: 9,987,561 (GRCm38)	I53V	probably benign	Het
Adgrl2	A	C	3: 148,839,185 (GRCm38)		probably null	Het
Aldh16a1	G	A	7: 45,144,664 (GRCm38)	A596V	probably damaging	Het
Aldh3b2	T	A	19: 3,979,414 (GRCm38)	Y262*	probably null	Het
Ambn	A	G	5: 88,467,972 (GRCm38)	Q420R	possibly damaging	Het
Ankib1	A	C	5: 3,700,344 (GRCm38)		probably benign	Het
Arhgap9	C	A	10: 127,329,538 (GRCm38)	H430Q	probably benign	Het
Arhgef25	C	T	10: 127,184,064 (GRCm38)	G435E	probably damaging	Het
Armc12	A	T	17: 28,532,392 (GRCm38)	D120V	possibly damaging	Het
Armc4	A	T	18: 7,211,516 (GRCm38)	V786D	probably damaging	Het
Asxl3	G	A	18: 22,516,681 (GRCm38)	E576K	possibly damaging	Het
Bcdin3d	T	C	15: 99,470,895 (GRCm38)	E141G	probably benign	Het
Bmpr1b	G	A	3: 141,840,676 (GRCm38)	T483M	probably damaging	Het
Caprin2	C	T	6: 148,842,954 (GRCm38)	S991N	probably damaging	Het
Cd96	T	C	16: 46,071,766 (GRCm38)	I286M	possibly damaging	Het
Cdcp1	G	T	9: 123,180,172 (GRCm38)	F480L	probably benign	Het
Celf5	T	C	10: 81,464,409 (GRCm38)	T258A	probably benign	Het
Cgnl1	A	G	9: 71,721,657 (GRCm38)	V577A	probably damaging	Het
Clca3b	A	G	3: 144,841,465 (GRCm38)	S304P	probably benign	Het
Cmya5	A	T	13: 93,095,600 (GRCm38)	H993Q	probably benign	Het
Cnbp	A	T	6: 87,845,764 (GRCm38)	C6S	probably damaging	Het
Col14a1	C	T	15: 55,497,511 (GRCm38)	R1605W	probably damaging	Het
Cops7a	T	C	6: 124,964,854 (GRCm38)	N11S	probably benign	Het
Coro7	T	C	16: 4,630,178 (GRCm38)		probably benign	Het
Cpvl	T	C	6: 53,932,500 (GRCm38)	H217R	possibly damaging	Het
Cuedc1	T	C	11: 88,184,621 (GRCm38)		probably benign	Het
Cyp2c66	A	G	19: 39,141,925 (GRCm38)	Y68C	probably damaging	Het
Dicer1	G	A	12: 104,702,451 (GRCm38)	T1324M	probably benign	Het
Dlgap2	A	G	8: 14,727,562 (GRCm38)	D268G	probably benign	Het
Dnm1	T	A	2: 32,316,989 (GRCm38)	M535L	possibly damaging	Het
Dock7	A	T	4: 98,962,280 (GRCm38)	F1575Y	probably benign	Het
Dpp10	T	A	1: 123,398,546 (GRCm38)	H403L	possibly damaging	Het
Dync1h1	A	G	12: 110,649,851 (GRCm38)	D3112G	possibly damaging	Het
Eno3	A	G	11: 70,657,935 (GRCm38)	E21G	probably null	Het
Fam120b	T	A	17: 15,422,924 (GRCm38)	V655D	probably damaging	Het
Fam129a	A	G	1: 151,718,216 (GRCm38)	D884G	probably benign	Het
Fkbp5	A	T	17: 28,428,452 (GRCm38)	D136E	probably benign	Het
Gdap1l1	T	A	2: 163,447,653 (GRCm38)	Y179*	probably null	Het
Gfer	A	G	17: 24,694,303 (GRCm38)	W192R	probably damaging	Het
Gm4782	A	G	6: 50,609,858 (GRCm38)	T408A	probably benign	Het
Golgb1	C	T	16: 36,875,630 (GRCm38)	Q164*	probably null	Het
Gpnmb	A	G	6: 49,047,342 (GRCm38)	N197S	probably damaging	Het
Gtf2f1	G	A	17: 57,003,802 (GRCm38)	T414M	probably benign	Het
Hc	A	G	2: 35,036,154 (GRCm38)		probably benign	Het
Hcfc1	A	T	X: 73,948,429 (GRCm38)		probably benign	Het
Helz2	C	T	2: 181,230,430 (GRCm38)	R2539Q	probably damaging	Het
Hsd17b12	T	A	2: 94,157,815 (GRCm38)	I19F	probably benign	Het
Incenp	T	C	19: 9,893,750 (GRCm38)	T172A	unknown	Het
Jmy	A	G	13: 93,441,618 (GRCm38)	Y681H	probably benign	Het
Kbtbd11	A	G	8: 15,027,508 (GRCm38)	T36A	probably benign	Het
Kcnh4	T	C	11: 100,755,699 (GRCm38)	D267G	probably damaging	Het
Krt34	C	T	11: 100,041,331 (GRCm38)	E56K	probably damaging	Het
Krt40	T	A	11: 99,538,742 (GRCm38)	E335D	probably damaging	Het
Krt86	T	A	15: 101,476,573 (GRCm38)	Y282*	probably null	Het
Lgi3	C	T	14: 70,534,815 (GRCm38)	R267*	probably null	Het
Lnpk	A	G	2: 74,537,289 (GRCm38)		probably benign	Het
Lrp1b	T	A	2: 40,998,183 (GRCm38)	H2355L	probably benign	Het
Lrrc8e	G	A	8: 4,235,401 (GRCm38)	R542H	probably benign	Het
Mia2	T	C	12: 59,108,856 (GRCm38)	Y452H	probably damaging	Het
Mmachc	C	T	4: 116,704,541 (GRCm38)	R132Q	probably damaging	Het
Mtbp	T	A	15: 55,577,486 (GRCm38)	N356K	possibly damaging	Het
Mum1	T	C	10: 80,234,258 (GRCm38)	S354P	probably benign	Het
Myo5b	A	G	18: 74,661,716 (GRCm38)	H552R	possibly damaging	Het
Noxred1	A	G	12: 87,226,979 (GRCm38)	V96A	probably benign	Het
Nr1d2	T	A	14: 18,211,933 (GRCm38)	D390V	possibly damaging	Het
Oas1e	A	T	5: 120,791,774 (GRCm38)		probably benign	Het
Olfr398	T	C	11: 73,983,712 (GRCm38)	S299G	probably benign	Het
Olfr786	T	A	10: 129,437,348 (GRCm38)	Y179N	probably damaging	Het
Otog	G	T	7: 46,267,381 (GRCm38)	C914F	probably damaging	Het
Pank2	G	T	2: 131,280,197 (GRCm38)	C214F	probably damaging	Het
Pcdhb1	T	A	18: 37,266,735 (GRCm38)	S580T	probably benign	Het
Pdia3	T	C	2: 121,414,111 (GRCm38)	S2P	probably damaging	Het
Peli1	G	T	11: 21,142,602 (GRCm38)	R83L	probably damaging	Het
Pla2g3	T	A	11: 3,491,935 (GRCm38)	C366*	probably null	Het
Pon3	T	A	6: 5,240,860 (GRCm38)	D107V	probably benign	Het
Ppip5k2	A	G	1: 97,741,091 (GRCm38)	C532R	probably damaging	Het
Prph	A	T	15: 99,055,727 (GRCm38)	D174V	probably damaging	Het
Psd3	A	G	8: 67,758,086 (GRCm38)	M270T	probably damaging	Het
Pum3	A	G	19: 27,422,755 (GRCm38)		probably benign	Het
Rab7	A	T	6: 88,005,132 (GRCm38)	V87E	probably damaging	Het
Rbm5	A	T	9: 107,751,708 (GRCm38)		probably benign	Het
Reln	A	G	5: 21,942,597 (GRCm38)		probably null	Het
S1pr3	A	G	13: 51,418,902 (GRCm38)	T40A	probably benign	Het
Sdk1	T	A	5: 142,143,922 (GRCm38)		probably benign	Het
Senp7	T	A	16: 56,179,521 (GRCm38)	I853N	probably damaging	Het
Serpinb6c	T	A	13: 33,899,247 (GRCm38)		probably benign	Het
Shroom1	T	G	11: 53,465,485 (GRCm38)		probably null	Het
Slc24a3	T	C	2: 145,606,664 (GRCm38)	I376T	probably benign	Het
Slc46a1	T	C	11: 78,468,667 (GRCm38)	I375T	possibly damaging	Het
Slc4a9	T	C	18: 36,533,680 (GRCm38)	F527S	probably damaging	Het
Slc4a9	T	A	18: 36,541,233 (GRCm38)	I924N	probably damaging	Het
Slx4	T	A	16: 3,986,952 (GRCm38)	E666V	probably damaging	Het
Snrnp27	G	A	6: 86,675,593 (GRCm38)		probably benign	Het
Sorcs1	C	T	19: 50,228,221 (GRCm38)	G640E	probably damaging	Het
Sptan1	A	T	2: 30,018,401 (GRCm38)	M1725L	probably benign	Het
Sync	G	A	4: 129,293,721 (GRCm38)	R182K	probably damaging	Het
Syne2	G	A	12: 76,098,034 (GRCm38)	G1586S	probably damaging	Het
Sytl1	G	T	4: 133,253,457 (GRCm38)	T522K	probably damaging	Het
Tex2	T	A	11: 106,519,955 (GRCm38)	K414*	probably null	Het
Thegl	G	T	5: 77,016,305 (GRCm38)	E52*	probably null	Het
Thsd7a	G	A	6: 12,503,916 (GRCm38)	T413I	probably benign	Het
Tm9sf1	C	T	14: 55,637,935 (GRCm38)	A451T	possibly damaging	Het
Ttn	A	T	2: 76,826,152 (GRCm38)		probably benign	Het
Uba2	T	C	7: 34,154,629 (GRCm38)	I140V	possibly damaging	Het
Ushbp1	C	A	8: 71,390,118 (GRCm38)	G361*	probably null	Het
Wbp2nl	C	T	15: 82,313,787 (GRCm38)	A175V	probably benign	Het
Zc3h12d	A	G	10: 7,862,566 (GRCm38)	E212G	probably damaging	Het
Zc3h7b	T	C	15: 81,768,830 (GRCm38)		probably benign	Het

Other mutations in Pus1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0145:Pus1	UTSW	5	110,774,854 (GRCm38)	missense	probably benign	0.09
R0242:Pus1	UTSW	5	110,779,798 (GRCm38)	missense	probably benign	0.02
R0486:Pus1	UTSW	5	110,779,730 (GRCm38)	missense	probably damaging	1.00
R1922:Pus1	UTSW	5	110,777,639 (GRCm38)	missense	probably damaging	1.00
R2305:Pus1	UTSW	5	110,774,960 (GRCm38)	missense	probably benign	0.08
R4528:Pus1	UTSW	5	110,774,730 (GRCm38)	missense	probably damaging	1.00
R4609:Pus1	UTSW	5	110,780,318 (GRCm38)	start codon destroyed	probably null	0.06
R4846:Pus1	UTSW	5	110,779,930 (GRCm38)	intron	probably benign
R5720:Pus1	UTSW	5	110,777,718 (GRCm38)	missense	probably damaging	1.00
R6207:Pus1	UTSW	5	110,777,714 (GRCm38)	missense	probably benign	0.12
R7123:Pus1	UTSW	5	110,773,932 (GRCm38)	makesense	probably null
R7449:Pus1	UTSW	5	110,774,586 (GRCm38)	missense	probably damaging	1.00
R7827:Pus1	UTSW	5	110,779,716 (GRCm38)	missense	probably damaging	1.00
R8976:Pus1	UTSW	5	110,774,923 (GRCm38)	missense	possibly damaging	0.65
RF016:Pus1	UTSW	5	110,776,558 (GRCm38)	missense	not run

Predicted Primers

PCR Primer
(F):5'- TCTGAGTAGCATCAGGGAACCAAGG -3'
(R):5'- TGTGTCCAGTTCAAACTCCGCC -3'

Sequencing Primer
(F):5'- AACCAAGGGCTGCCTCAG -3'
(R):5'- TCAAACTCCGCCCGAGTTG -3'

Posted On

2013-07-11