Mutagenetix > Incidental Mutation

Incidental Mutation 'R7449:Pus1'

577549

Institutional Source

Beutler Lab

Gene Symbol

Pus1

Ensembl Gene

ENSMUSG00000029507

Gene Name

pseudouridine synthase 1

Synonyms

A730013B20Rik, mPus1p, MPUS1

MMRRC Submission

045524-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.287) question?

Stock #

R7449 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110921533-110928523 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110922452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 405 (L405P)

Ref Sequence

ENSEMBL: ENSMUSP00000083844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031481] [ENSMUST00000031483] [ENSMUST00000041558] [ENSMUST00000086643] [ENSMUST00000112426] [ENSMUST00000112433] [ENSMUST00000112435] [ENSMUST00000112436] [ENSMUST00000136483] [ENSMUST00000146458] [ENSMUST00000149208] [ENSMUST00000170468]

AlphaFold

Q9WU56

Predicted Effect

probably damaging
Transcript: ENSMUST00000031481
AA Change: L357P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031481
Gene: ENSMUSG00000029507
AA Change: L357P

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 damaging
Transcript: ENSMUST00000031483
AA Change: L387P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031483
Gene: ENSMUSG00000029507
AA Change: L387P

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: ENSMUST00000041558

SMART Domains

Protein: ENSMUSP00000049038
Gene: ENSMUSG00000029505

Domain	Start	End	E-Value	Type
Pfam:EP400_N	1	461	1.6e-232	PFAM
low complexity region	519	532	N/A	INTRINSIC
low complexity region	550	561	N/A	INTRINSIC
low complexity region	598	620	N/A	INTRINSIC
low complexity region	631	645	N/A	INTRINSIC
low complexity region	658	686	N/A	INTRINSIC
HSA	762	833	1.31e-31	SMART
low complexity region	908	925	N/A	INTRINSIC
DEXDc	1049	1238	2.76e-15	SMART
Blast:DEXDc	1276	1317	2e-15	BLAST
low complexity region	1407	1417	N/A	INTRINSIC
HELICc	1807	1893	1.17e-4	SMART
low complexity region	2006	2019	N/A	INTRINSIC
low complexity region	2080	2100	N/A	INTRINSIC
low complexity region	2214	2223	N/A	INTRINSIC
SANT	2243	2310	3.57e-1	SMART
low complexity region	2402	2489	N/A	INTRINSIC
low complexity region	2596	2608	N/A	INTRINSIC
low complexity region	2644	2679	N/A	INTRINSIC
low complexity region	2694	2738	N/A	INTRINSIC
low complexity region	2769	2806	N/A	INTRINSIC
low complexity region	2846	2883	N/A	INTRINSIC
low complexity region	2933	2947	N/A	INTRINSIC
low complexity region	2974	2986	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000086643
AA Change: L405P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083844
Gene: ENSMUSG00000029507
AA Change: L405P

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 damaging
Transcript: ENSMUST00000112426
AA Change: L311P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108045
Gene: ENSMUSG00000029507
AA Change: L311P

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

probably benign
Transcript: ENSMUST00000112433

SMART Domains

Protein: ENSMUSP00000108052
Gene: ENSMUSG00000029505

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
low complexity region	121	145	N/A	INTRINSIC
low complexity region	262	287	N/A	INTRINSIC
low complexity region	298	308	N/A	INTRINSIC
low complexity region	313	329	N/A	INTRINSIC
coiled coil region	418	447	N/A	INTRINSIC
low complexity region	471	485	N/A	INTRINSIC
low complexity region	556	569	N/A	INTRINSIC
low complexity region	587	598	N/A	INTRINSIC
low complexity region	635	657	N/A	INTRINSIC
low complexity region	666	677	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112435

SMART Domains

Protein: ENSMUSP00000108054
Gene: ENSMUSG00000029505

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
low complexity region	121	145	N/A	INTRINSIC
low complexity region	262	287	N/A	INTRINSIC
low complexity region	298	308	N/A	INTRINSIC
low complexity region	313	329	N/A	INTRINSIC
coiled coil region	418	447	N/A	INTRINSIC
low complexity region	471	485	N/A	INTRINSIC
low complexity region	556	569	N/A	INTRINSIC
low complexity region	587	598	N/A	INTRINSIC
low complexity region	635	657	N/A	INTRINSIC
low complexity region	668	682	N/A	INTRINSIC
low complexity region	695	723	N/A	INTRINSIC
HSA	799	870	1.31e-31	SMART
low complexity region	945	962	N/A	INTRINSIC
DEXDc	1086	1275	2.76e-15	SMART
Blast:DEXDc	1313	1354	2e-15	BLAST
low complexity region	1444	1454	N/A	INTRINSIC
internal_repeat_1	1556	1646	6.82e-5	PROSPERO
low complexity region	1887	1900	N/A	INTRINSIC
low complexity region	1961	1981	N/A	INTRINSIC
low complexity region	2095	2104	N/A	INTRINSIC
SANT	2124	2191	3.57e-1	SMART
low complexity region	2283	2370	N/A	INTRINSIC
internal_repeat_1	2371	2463	6.82e-5	PROSPERO
low complexity region	2477	2489	N/A	INTRINSIC
low complexity region	2525	2560	N/A	INTRINSIC
low complexity region	2575	2619	N/A	INTRINSIC
low complexity region	2645	2659	N/A	INTRINSIC
low complexity region	2660	2680	N/A	INTRINSIC
low complexity region	2720	2757	N/A	INTRINSIC
low complexity region	2807	2821	N/A	INTRINSIC
low complexity region	2848	2860	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112436

SMART Domains

Protein: ENSMUSP00000108055
Gene: ENSMUSG00000029505

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
low complexity region	121	145	N/A	INTRINSIC
low complexity region	262	287	N/A	INTRINSIC
low complexity region	298	308	N/A	INTRINSIC
low complexity region	313	329	N/A	INTRINSIC
coiled coil region	418	449	N/A	INTRINSIC
low complexity region	472	482	N/A	INTRINSIC
low complexity region	483	496	N/A	INTRINSIC
low complexity region	514	525	N/A	INTRINSIC
low complexity region	562	584	N/A	INTRINSIC
low complexity region	595	609	N/A	INTRINSIC
low complexity region	622	650	N/A	INTRINSIC
HSA	726	797	1.31e-31	SMART
low complexity region	872	889	N/A	INTRINSIC
DEXDc	1013	1202	2.76e-15	SMART
Blast:DEXDc	1240	1281	2e-15	BLAST
low complexity region	1371	1381	N/A	INTRINSIC
internal_repeat_1	1483	1573	6.76e-5	PROSPERO
HELICc	1771	1857	1.17e-4	SMART
low complexity region	1970	1983	N/A	INTRINSIC
low complexity region	2044	2064	N/A	INTRINSIC
low complexity region	2178	2187	N/A	INTRINSIC
SANT	2207	2274	3.57e-1	SMART
low complexity region	2366	2453	N/A	INTRINSIC
internal_repeat_1	2454	2546	6.76e-5	PROSPERO
low complexity region	2560	2572	N/A	INTRINSIC
low complexity region	2608	2643	N/A	INTRINSIC
low complexity region	2658	2702	N/A	INTRINSIC
low complexity region	2733	2770	N/A	INTRINSIC
low complexity region	2810	2847	N/A	INTRINSIC
low complexity region	2897	2911	N/A	INTRINSIC
low complexity region	2938	2950	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136483

SMART Domains

Protein: ENSMUSP00000115143
Gene: ENSMUSG00000029507

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146458

SMART Domains

Protein: ENSMUSP00000138369
Gene: ENSMUSG00000029505

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
low complexity region	121	145	N/A	INTRINSIC
low complexity region	262	287	N/A	INTRINSIC
low complexity region	298	308	N/A	INTRINSIC
low complexity region	313	329	N/A	INTRINSIC
coiled coil region	418	449	N/A	INTRINSIC
low complexity region	519	532	N/A	INTRINSIC
low complexity region	550	561	N/A	INTRINSIC
low complexity region	598	620	N/A	INTRINSIC
low complexity region	629	640	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149208

SMART Domains

Protein: ENSMUSP00000115468
Gene: ENSMUSG00000029507

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170468
AA Change: L357P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130814
Gene: ENSMUSG00000029507
AA Change: L357P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,035,131 (GRCm39)	Y306N	possibly damaging	Het
Adgrv1	A	T	13: 81,647,192 (GRCm39)	V3116D	probably damaging	Het
Adss1	A	T	12: 112,600,585 (GRCm39)	T185S	probably damaging	Het
Ago2	G	A	15: 73,018,348 (GRCm39)	P30L	probably damaging	Het
Arb2a	A	G	13: 77,907,561 (GRCm39)	I41V	probably damaging	Het
Atp5pf	C	T	16: 84,628,251 (GRCm39)	V44M	probably benign	Het
Atp7b	T	A	8: 22,501,865 (GRCm39)	I833F	probably damaging	Het
Birc6	T	A	17: 75,009,336 (GRCm39)	N4869K	probably benign	Het
Cacna1c	C	T	6: 118,579,310 (GRCm39)	D1796N		Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cnga1	A	G	5: 72,762,647 (GRCm39)	I289T	probably benign	Het
Crybg1	C	A	10: 43,880,515 (GRCm39)	E224D	probably benign	Het
Dysf	T	C	6: 84,114,362 (GRCm39)	L1217P	possibly damaging	Het
Ebf2	T	A	14: 67,647,469 (GRCm39)	N339K	probably damaging	Het
Eva1c	T	C	16: 90,673,081 (GRCm39)		probably null	Het
Fam184a	T	C	10: 53,574,730 (GRCm39)	E293G	probably damaging	Het
Folh1	G	A	7: 86,380,956 (GRCm39)	P506S	probably benign	Het
Ftcd	A	T	10: 76,415,997 (GRCm39)	K210N	probably benign	Het
Gdf6	T	A	4: 9,844,494 (GRCm39)	V6D	possibly damaging	Het
Ghitm	C	A	14: 36,853,538 (GRCm39)	G101C	probably damaging	Het
Gimap5	T	A	6: 48,729,838 (GRCm39)	V136D	probably damaging	Het
Grm4	C	T	17: 27,654,345 (GRCm39)	G535D	probably damaging	Het
Gse1	T	C	8: 120,956,450 (GRCm39)	S314P	unknown	Het
Hnrnpdl	A	G	5: 100,185,014 (GRCm39)	I279T	probably damaging	Het
Idi2l	T	A	13: 8,993,340 (GRCm39)	H51L	probably damaging	Het
Itpr1	T	C	6: 108,366,345 (GRCm39)	S923P	probably damaging	Het
Krt39	C	A	11: 99,408,887 (GRCm39)	C303F	probably benign	Het
Lrrn1	T	C	6: 107,545,482 (GRCm39)	S427P	possibly damaging	Het
Lrrn3	T	A	12: 41,503,487 (GRCm39)	R277W	probably damaging	Het
Ltb4r1	T	C	14: 56,005,375 (GRCm39)	L226P	probably damaging	Het
Map1b	C	T	13: 99,644,648 (GRCm39)	R85Q	probably damaging	Het
Mcoln1	T	C	8: 3,557,285 (GRCm39)	L125P	probably damaging	Het
Nid1	T	G	13: 13,656,636 (GRCm39)	V589G	probably damaging	Het
Nlrp5	T	G	7: 23,116,951 (GRCm39)	F225C	probably benign	Het
Notch3	C	T	17: 32,376,940 (GRCm39)	A322T	probably damaging	Het
Or14c43	A	G	7: 86,115,063 (GRCm39)	H148R	probably benign	Het
Or52a5b	G	T	7: 103,417,026 (GRCm39)	Q193K	probably benign	Het
Or7g34	T	A	9: 19,478,162 (GRCm39)	T173S	probably benign	Het
Otogl	A	G	10: 107,639,524 (GRCm39)	C1363R	probably damaging	Het
Ovol1	T	A	19: 5,603,625 (GRCm39)	D92V	probably benign	Het
Pigt	T	C	2: 164,344,419 (GRCm39)	L356P	probably damaging	Het
Plekhg3	A	G	12: 76,612,996 (GRCm39)	Q434R	probably damaging	Het
Plekhh1	T	C	12: 79,126,326 (GRCm39)	F1344L	probably benign	Het
Polr1has	A	G	17: 37,275,275 (GRCm39)	D16G	probably damaging	Het
Psmd3	T	A	11: 98,586,377 (GRCm39)	L515Q	probably damaging	Het
Qtrt2	T	A	16: 43,701,395 (GRCm39)	H55L	probably benign	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Raver2	T	A	4: 100,959,860 (GRCm39)	H113Q	probably damaging	Het
Recql4	T	C	15: 76,589,765 (GRCm39)	D760G	unknown	Het
Rhobtb3	C	T	13: 76,058,860 (GRCm39)	V313M	probably benign	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnf185	T	C	11: 3,376,578 (GRCm39)	Q135R	probably benign	Het
Sema3f	T	C	9: 107,561,235 (GRCm39)	S584G	probably damaging	Het
Sh3pxd2a	T	A	19: 47,256,091 (GRCm39)	T904S	probably benign	Het
Slc4a10	T	C	2: 62,134,290 (GRCm39)	V1002A	probably benign	Het
Taf1b	T	C	12: 24,554,992 (GRCm39)	I55T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tenm4	A	T	7: 96,523,420 (GRCm39)	D1654V	possibly damaging	Het
Tgfb1	G	A	7: 25,404,263 (GRCm39)	V357M	probably damaging	Het
Tnxb	C	T	17: 34,922,335 (GRCm39)	P2383S	possibly damaging	Het
Trpm1	A	T	7: 63,858,723 (GRCm39)	M382L	probably benign	Het
Trrap	A	G	5: 144,788,019 (GRCm39)	Y3516C	probably damaging	Het
Txnrd1	T	A	10: 82,721,067 (GRCm39)	Y494*	probably null	Het
Ubr2	C	T	17: 47,275,714 (GRCm39)	E811K	probably damaging	Het
Ubxn4	T	A	1: 128,172,280 (GRCm39)	F25I	possibly damaging	Het
Vmn2r117	A	G	17: 23,678,869 (GRCm39)	M785T	probably damaging	Het
Vmn2r99	G	A	17: 19,599,407 (GRCm39)	D364N	probably benign	Het
Vps45	C	A	3: 95,954,448 (GRCm39)		probably null	Het
Wdr25	A	C	12: 108,992,367 (GRCm39)	H426P	probably damaging	Het
Wdr83	A	T	8: 85,806,310 (GRCm39)	W136R	probably damaging	Het
Xylt1	A	C	7: 117,191,232 (GRCm39)	I343L	possibly damaging	Het
Zscan4b	T	C	7: 10,637,985 (GRCm39)	Q53R	possibly damaging	Het

Other mutations in Pus1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0145:Pus1	UTSW	5	110,922,720 (GRCm39)	missense	probably benign	0.09
R0242:Pus1	UTSW	5	110,927,664 (GRCm39)	missense	probably benign	0.02
R0242:Pus1	UTSW	5	110,927,664 (GRCm39)	missense	probably benign	0.02
R0486:Pus1	UTSW	5	110,927,596 (GRCm39)	missense	probably damaging	1.00
R1922:Pus1	UTSW	5	110,925,505 (GRCm39)	missense	probably damaging	1.00
R2305:Pus1	UTSW	5	110,922,826 (GRCm39)	missense	probably benign	0.08
R4528:Pus1	UTSW	5	110,922,596 (GRCm39)	missense	probably damaging	1.00
R4609:Pus1	UTSW	5	110,928,184 (GRCm39)	start codon destroyed	probably null	0.06
R4846:Pus1	UTSW	5	110,927,796 (GRCm39)	intron	probably benign
R5720:Pus1	UTSW	5	110,925,584 (GRCm39)	missense	probably damaging	1.00
R6207:Pus1	UTSW	5	110,925,580 (GRCm39)	missense	probably benign	0.12
R7123:Pus1	UTSW	5	110,921,798 (GRCm39)	makesense	probably null
R7827:Pus1	UTSW	5	110,927,582 (GRCm39)	missense	probably damaging	1.00
R8976:Pus1	UTSW	5	110,922,789 (GRCm39)	missense	possibly damaging	0.65
RF016:Pus1	UTSW	5	110,924,424 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- AGCCCATGAGTAAACCTTGC -3'
(R):5'- TAGTCCTGGAGAGGGTTCAC -3'

Sequencing Primer
(F):5'- AGCAGGAGGTAGCCCAC -3'
(R):5'- CCTGGAGAGGGTTCACTTTGAAAAG -3'

Posted On

2019-10-07