Mutagenetix > Incidental Mutation

Incidental Mutation 'R7123:Pus1'

552137

Institutional Source

Beutler Lab

Gene Symbol

Pus1

Ensembl Gene

ENSMUSG00000029507

Gene Name

pseudouridine synthase 1

Synonyms

A730013B20Rik, mPus1p, MPUS1

MMRRC Submission

045211-MU

Accession Numbers

Essential gene?

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

Stock #

R7123 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110921533-110928523 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 110921798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 442 (*442W)

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 null
Transcript: ENSMUST00000031481
AA Change: *394W

SMART Domains

Protein: ENSMUSP00000031481
Gene: ENSMUSG00000029507
AA Change: *394W

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 null
Transcript: ENSMUST00000031483
AA Change: *424W

SMART Domains

Protein: ENSMUSP00000031483
Gene: ENSMUSG00000029507
AA Change: *424W

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 null
Transcript: ENSMUST00000086643
AA Change: *442W

SMART Domains

Protein: ENSMUSP00000083844
Gene: ENSMUSG00000029507
AA Change: *442W

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 null
Transcript: ENSMUST00000112426
AA Change: *348W

SMART Domains

Protein: ENSMUSP00000108045
Gene: ENSMUSG00000029507
AA Change: *348W

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 null
Transcript: ENSMUST00000170468
AA Change: *394W

SMART Domains

Protein: ENSMUSP00000130814
Gene: ENSMUSG00000029507
AA Change: *394W

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: 99.1%

Validation Efficiency

98% (52/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,484,949 (GRCm39)	I1521T	probably damaging	Het
Adgrv1	A	T	13: 81,740,693 (GRCm39)	I145N	probably damaging	Het
Ago3	C	A	4: 126,248,798 (GRCm39)		probably null	Het
Agrn	A	T	4: 156,257,297 (GRCm39)	W1178R	probably benign	Het
Akap3	A	T	6: 126,843,267 (GRCm39)	I629L	probably benign	Het
Aknad1	T	G	3: 108,682,560 (GRCm39)	Y545*	probably null	Het
Anapc1	C	A	2: 128,454,930 (GRCm39)	V1925F	probably damaging	Het
Barhl1	C	T	2: 28,799,943 (GRCm39)		probably null	Het
Cfap157	T	C	2: 32,669,413 (GRCm39)	E294G	probably damaging	Het
Cfd	G	A	10: 79,728,331 (GRCm39)	G231S	probably damaging	Het
Csf2ra	A	G	19: 61,215,300 (GRCm39)	V105A	probably damaging	Het
Dhtkd1	A	T	2: 5,922,591 (GRCm39)	W523R	probably damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnajc22	A	C	15: 98,999,085 (GRCm39)	Y90S	possibly damaging	Het
Ebna1bp2	A	G	4: 118,482,772 (GRCm39)	K254E	probably damaging	Het
Gfpt1	A	T	6: 87,033,168 (GRCm39)	D131V	probably damaging	Het
Gm5460	A	G	14: 33,763,982 (GRCm39)	I21V	unknown	Het
H2-T9	A	G	17: 36,438,686 (GRCm39)	I235T	possibly damaging	Het
Htr1d	C	T	4: 136,169,664 (GRCm39)		probably benign	Het
Kndc1	G	A	7: 139,516,749 (GRCm39)	E1570K	probably damaging	Het
Kntc1	T	C	5: 123,919,789 (GRCm39)	Y887H	probably damaging	Het
Kti12	T	C	4: 108,705,679 (GRCm39)	S198P	probably benign	Het
Mcmdc2	A	T	1: 10,010,643 (GRCm39)	I604F	unknown	Het
Mmp8	A	T	9: 7,563,196 (GRCm39)	D253V	probably damaging	Het
Muc4	T	C	16: 32,569,509 (GRCm39)	S252P	possibly damaging	Het
Myo5c	A	G	9: 75,196,505 (GRCm39)	K1317R	probably benign	Het
Ncoa7	T	C	10: 30,530,435 (GRCm39)	I749V	probably benign	Het
Nfrkb	A	G	9: 31,325,311 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,904,477 (GRCm39)	T7166A	probably benign	Het
Obsl1	A	G	1: 75,466,313 (GRCm39)	S1472P	probably damaging	Het
Or14j7	T	A	17: 38,234,567 (GRCm39)	L37M	probably benign	Het
Or1e20-ps1	T	A	11: 73,324,536 (GRCm39)	D172V	unknown	Het
Orc1	A	C	4: 108,445,884 (GRCm39)	M1L	probably damaging	Het
Pkd1	T	A	17: 24,813,742 (GRCm39)	S4069T	possibly damaging	Het
Rgma	A	C	7: 73,059,139 (GRCm39)	D97A	probably damaging	Het
Ryr1	T	C	7: 28,746,279 (GRCm39)	K3834E	probably benign	Het
Sars2	T	C	7: 28,452,866 (GRCm39)	V475A	probably benign	Het
Scamp2	A	T	9: 57,494,385 (GRCm39)	T253S	probably benign	Het
Skint9	C	T	4: 112,248,174 (GRCm39)	W190*	probably null	Het
Spata31d1e	G	A	13: 59,891,254 (GRCm39)	Q189*	probably null	Het
Sv2b	C	T	7: 74,767,450 (GRCm39)	V649I	possibly damaging	Het
Synpo2	A	G	3: 122,906,835 (GRCm39)	V827A	probably benign	Het
Tiparp	A	T	3: 65,460,948 (GRCm39)	I646F	probably damaging	Het
Topaz1	G	A	9: 122,577,480 (GRCm39)	G130D	probably damaging	Het
Trio	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	15: 27,742,399 (GRCm39)		probably benign	Het
Ttll7	C	T	3: 146,619,051 (GRCm39)	P319S	possibly damaging	Het
Umodl1	T	A	17: 31,201,318 (GRCm39)	F416I	possibly damaging	Het
Vmn2r104	T	C	17: 20,261,088 (GRCm39)	D445G	probably benign	Het
Wnk2	A	G	13: 49,235,462 (GRCm39)	V651A	possibly damaging	Het
Zbtb21	C	T	16: 97,751,112 (GRCm39)	S1057N	probably damaging	Het
Zfp451	A	T	1: 33,815,950 (GRCm39)	C667S	probably 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
R7449:Pus1	UTSW	5	110,922,452 (GRCm39)	missense	probably damaging	1.00
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'- TAGTGGCTACATCTACTGCCTG -3'
(R):5'- TTGCTCAGCAACAAGCACTTG -3'

Sequencing Primer
(F):5'- AAGTGCCCTTTCATGCTAAGG -3'
(R):5'- TGGCACTGTACCCAGGATTC -3'

Posted On

2019-05-15