Mutagenetix > Incidental Mutation

Incidental Mutation 'R8976:Pus1'

683432

Institutional Source

Beutler Lab

Gene Symbol

Pus1

Ensembl Gene

ENSMUSG00000029507

Gene Name

pseudouridine synthase 1

Synonyms

A730013B20Rik, mPus1p, MPUS1

MMRRC Submission

068810-MU

Accession Numbers

Essential gene?

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

Stock #

R8976 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110921533-110928523 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110922789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 293 (F293L)

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

possibly damaging
Transcript: ENSMUST00000031481
AA Change: F245L

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031481
Gene: ENSMUSG00000029507
AA Change: F245L

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

possibly damaging
Transcript: ENSMUST00000031483
AA Change: F275L

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031483
Gene: ENSMUSG00000029507
AA Change: F275L

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

possibly damaging
Transcript: ENSMUST00000086643
AA Change: F293L

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000083844
Gene: ENSMUSG00000029507
AA Change: F293L

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: F199L

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108045
Gene: ENSMUSG00000029507
AA Change: F199L

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

possibly damaging
Transcript: ENSMUST00000170468
AA Change: F245L

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130814
Gene: ENSMUSG00000029507
AA Change: F245L

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

Meta Mutation Damage Score

0.3574

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (60/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef11	A	G	3: 87,635,321 (GRCm39)	I906V	probably benign	Het
Atad2b	T	A	12: 4,967,923 (GRCm39)		probably null	Het
Atr	T	A	9: 95,772,819 (GRCm39)	D1243E	probably benign	Het
Baiap2l1	A	T	5: 144,223,117 (GRCm39)	H73Q	probably benign	Het
Bdp1	C	A	13: 100,197,407 (GRCm39)	G993*	probably null	Het
Cacna2d4	A	T	6: 119,315,118 (GRCm39)	I883F	possibly damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Crem	A	G	18: 3,268,088 (GRCm39)	V80A	possibly damaging	Het
Cyp2j9	T	C	4: 96,479,399 (GRCm39)	K62E	probably benign	Het
Dnah17	T	A	11: 117,917,666 (GRCm39)	I4132F	probably damaging	Het
Dnm3	G	A	1: 162,135,505 (GRCm39)	P423S	probably damaging	Het
Dop1b	G	T	16: 93,558,969 (GRCm39)	V572L	probably benign	Het
F12	T	A	13: 55,569,777 (GRCm39)		probably benign	Het
F2	A	G	2: 91,466,738 (GRCm39)	S2P	probably benign	Het
Fam171a2	T	C	11: 102,329,451 (GRCm39)	E436G	possibly damaging	Het
Fat1	T	C	8: 45,484,332 (GRCm39)	V3190A	probably benign	Het
Flnb	A	T	14: 7,901,882 (GRCm38)		probably null	Het
Frs3	A	T	17: 48,009,546 (GRCm39)	D9V	probably benign	Het
Galnt17	T	G	5: 130,935,543 (GRCm39)	E380A	probably benign	Het
Glrb	A	C	3: 80,758,363 (GRCm39)	V350G	probably damaging	Het
Helz2	T	A	2: 180,876,486 (GRCm39)	K1336M	possibly damaging	Het
Ifnlr1	T	A	4: 135,428,650 (GRCm39)	V159E	probably damaging	Het
Igf2r	T	C	17: 12,945,659 (GRCm39)	E310G	probably damaging	Het
Il2rb	C	T	15: 78,370,681 (GRCm39)	D145N	probably benign	Het
Iqcb1	A	G	16: 36,692,005 (GRCm39)	I535V	probably benign	Het
Keap1	A	C	9: 21,142,663 (GRCm39)	L531V	probably damaging	Het
Lrrc8d	T	A	5: 105,960,957 (GRCm39)	W456R	probably damaging	Het
Med12l	T	A	3: 59,183,329 (GRCm39)	H1910Q	probably damaging	Het
Mybphl	G	A	3: 108,272,334 (GRCm39)	E8K	probably damaging	Het
Odad3	T	A	9: 21,903,334 (GRCm39)		probably benign	Het
Olig2	A	G	16: 91,023,363 (GRCm39)	S26G	probably benign	Het
Or10a4	T	C	7: 106,697,466 (GRCm39)	S265P	possibly damaging	Het
Or5p73	T	A	7: 108,064,630 (GRCm39)	I33N	possibly damaging	Het
Or6f2	T	C	7: 139,756,885 (GRCm39)	V284A	probably damaging	Het
Or7a38	T	C	10: 78,753,418 (GRCm39)	I248T	possibly damaging	Het
Or7g22	T	A	9: 19,049,141 (GRCm39)	M284K	probably damaging	Het
Pcdhb22	G	A	18: 37,651,396 (GRCm39)		probably benign	Het
Plekha8	A	T	6: 54,607,521 (GRCm39)	E376V	probably damaging	Het
Polr2a	A	G	11: 69,638,037 (GRCm39)	V144A	possibly damaging	Het
Pramel34	T	A	5: 93,785,977 (GRCm39)	N101I	probably damaging	Het
Prr18	T	C	17: 8,560,047 (GRCm39)	S68P	probably damaging	Het
Ptprk	G	A	10: 28,461,669 (GRCm39)	R1153H	probably damaging	Het
Shank3	A	G	15: 89,442,381 (GRCm39)	E1758G	probably damaging	Het
Ska3	A	T	14: 58,057,851 (GRCm39)	I167N	probably damaging	Het
Ski	A	G	4: 155,242,411 (GRCm39)	S663P	probably damaging	Het
Slc49a3	A	C	5: 108,589,897 (GRCm39)	S502A	probably benign	Het
Spa17	C	T	9: 37,523,254 (GRCm39)	R11Q	possibly damaging	Het
Spag5	T	C	11: 78,195,413 (GRCm39)	V240A	probably benign	Het
Srl	A	T	16: 4,300,894 (GRCm39)	Y726N	probably damaging	Het
Ssbp4	A	T	8: 71,052,336 (GRCm39)		probably null	Het
Surf1	A	T	2: 26,805,767 (GRCm39)	C48S	probably benign	Het
Tigd3	G	A	19: 5,941,853 (GRCm39)	P426S	probably benign	Het
Tmem176b	A	G	6: 48,812,600 (GRCm39)	S122P	probably damaging	Het
Trim23	G	T	13: 104,328,545 (GRCm39)	L355F	probably damaging	Het
Ttn	G	A	2: 76,545,110 (GRCm39)	T32664M	probably damaging	Het
Ulk3	T	A	9: 57,502,220 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,511,169 (GRCm39)	H59R	possibly damaging	Het
Vmn1r19	A	G	6: 57,381,719 (GRCm39)	I91V	probably benign	Het
Vmn2r10	T	A	5: 109,145,479 (GRCm39)	N543Y	probably damaging	Het
Zbtb14	G	A	17: 69,694,752 (GRCm39)	R150H	possibly damaging	Het
Zfp831	T	C	2: 174,487,079 (GRCm39)	Y585H	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
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
RF016:Pus1	UTSW	5	110,924,424 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- TTCAAAGTGAACCCTCTCCAG -3'
(R):5'- TTGCCTTTGCTCACAAGGAC -3'

Sequencing Primer
(F):5'- GTGAACCCTCTCCAGGACTAAG -3'
(R):5'- CTCACAAGGACCGGGATGTAC -3'

Posted On

2021-10-11