Mutagenetix > Incidental Mutation

Incidental Mutation 'R1583:Pus10'

177265

Institutional Source

Beutler Lab

Gene Symbol

Pus10

Ensembl Gene

ENSMUSG00000020280

Gene Name

pseudouridylate synthase 10

Synonyms

Ccdc139, 4933435A13Rik, 2810013G11Rik

MMRRC Submission

039620-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23665674-23732876 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23673239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 126 (V126A)

Ref Sequence

ENSEMBL: ENSMUSP00000117934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020520] [ENSMUST00000058163] [ENSMUST00000109525] [ENSMUST00000143117]

AlphaFold

Q9D3U0

Predicted Effect

probably damaging
Transcript: ENSMUST00000020520
AA Change: V126A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020520
Gene: ENSMUSG00000020280
AA Change: V126A

Domain	Start	End	E-Value	Type
PDB:2V9K\|A	1	527	N/A	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000058163
AA Change: V126A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050395
Gene: ENSMUSG00000020280
AA Change: V126A

Domain	Start	End	E-Value	Type
PDB:2V9K\|A	1	527	N/A	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000109525
AA Change: V126A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105151
Gene: ENSMUSG00000020280
AA Change: V126A

Domain	Start	End	E-Value	Type
PDB:2V9K\|A	1	527	N/A	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136365

Predicted Effect

probably damaging
Transcript: ENSMUST00000143117
AA Change: V126A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117934
Gene: ENSMUSG00000020280
AA Change: V126A

Domain	Start	End	E-Value	Type
PDB:2V9K\|A	1	140	4e-65	PDB

Meta Mutation Damage Score

0.1604

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,882,681 (GRCm38)	S691P	probably benign	Het
Adgrb3	T	C	1: 25,226,831 (GRCm38)		probably null	Het
Ankar	A	G	1: 72,679,555 (GRCm38)		probably benign	Het
Aplf	A	T	6: 87,646,033 (GRCm38)	Y355N	probably damaging	Het
Bms1	A	G	6: 118,389,389 (GRCm38)		probably benign	Het
Catsperb	T	C	12: 101,463,114 (GRCm38)	I182T	probably damaging	Het
Cd300ld2	T	C	11: 115,013,777 (GRCm38)	D88G	probably benign	Het
Cebpz	T	C	17: 78,934,752 (GRCm38)	N491S	probably damaging	Het
Crybg2	T	C	4: 134,081,459 (GRCm38)	S1415P	probably damaging	Het
Ddc	A	G	11: 11,829,131 (GRCm38)	V331A	probably benign	Het
Decr2	T	C	17: 26,083,024 (GRCm38)	E244G	probably damaging	Het
Dhrs11	A	G	11: 84,823,117 (GRCm38)	M136T	probably damaging	Het
Eapp	G	A	12: 54,685,948 (GRCm38)	Q126*	probably null	Het
Fam111a	T	A	19: 12,587,778 (GRCm38)	V297D	probably damaging	Het
Fam84a	G	A	12: 14,150,408 (GRCm38)	A106V	probably benign	Het
Fbxo10	A	C	4: 45,062,118 (GRCm38)	L136R	probably damaging	Het
Fbxo30	T	A	10: 11,291,374 (GRCm38)	H613Q	possibly damaging	Het
Frk	A	T	10: 34,591,810 (GRCm38)		probably null	Het
Gm10392	T	A	11: 77,517,481 (GRCm38)	D104V	probably benign	Het
Gm960	T	A	19: 4,652,171 (GRCm38)	K282N	probably damaging	Het
Gpn1	A	G	5: 31,497,338 (GRCm38)	E78G	possibly damaging	Het
Hhip	T	C	8: 79,990,276 (GRCm38)	Y506C	probably damaging	Het
Hid1	G	A	11: 115,356,750 (GRCm38)	S274L	possibly damaging	Het
Immp2l	G	T	12: 41,703,765 (GRCm38)		probably benign	Het
Klhl21	T	C	4: 152,009,624 (GRCm38)	F228L	possibly damaging	Het
Lamc1	T	A	1: 153,243,478 (GRCm38)		probably null	Het
Lars	G	A	18: 42,210,050 (GRCm38)	R1101C	probably damaging	Het
Magi2	T	C	5: 19,227,332 (GRCm38)	V15A	probably benign	Het
Map2k7	T	C	8: 4,243,621 (GRCm38)		probably null	Het
Mga	T	A	2: 119,963,960 (GRCm38)	H2590Q	possibly damaging	Het
Mlxip	T	C	5: 123,450,223 (GRCm38)	I238T	possibly damaging	Het
Mylk	T	A	16: 34,875,586 (GRCm38)	D230E	probably benign	Het
Nacad	T	A	11: 6,601,185 (GRCm38)	T669S	probably benign	Het
Nin	C	T	12: 70,031,738 (GRCm38)	M1691I	probably benign	Het
Nlrp4d	C	T	7: 10,382,237 (GRCm38)	A203T	probably damaging	Het
Olfr1204	T	G	2: 88,852,262 (GRCm38)	F104C	probably damaging	Het
Olfr1301	A	T	2: 111,754,425 (GRCm38)	M59L	probably damaging	Het
Olfr1495	A	T	19: 13,768,510 (GRCm38)	H56L	probably benign	Het
Olfr201	A	G	16: 59,269,031 (GRCm38)	V212A	probably benign	Het
Olfr433	T	C	1: 174,042,480 (GRCm38)	F177L	probably benign	Het
Olfr729	C	A	14: 50,148,774 (GRCm38)	M33I	probably benign	Het
Osbp	C	A	19: 11,977,829 (GRCm38)	Q282K	probably benign	Het
Osbpl2	A	G	2: 180,148,463 (GRCm38)	S177G	probably damaging	Het
Pax1	A	G	2: 147,366,255 (GRCm38)	H261R	possibly damaging	Het
Pcif1	A	T	2: 164,886,727 (GRCm38)	L274F	probably damaging	Het
Pkhd1	A	G	1: 20,117,825 (GRCm38)	S3420P	probably benign	Het
Prss3	A	C	6: 41,377,627 (GRCm38)		probably benign	Het
Ptk2b	T	C	14: 66,163,114 (GRCm38)	T751A	possibly damaging	Het
Rai14	A	C	15: 10,587,916 (GRCm38)	D258E	probably damaging	Het
Rbp3	T	C	14: 33,954,524 (GRCm38)	V143A	possibly damaging	Het
Sarm1	G	A	11: 78,483,327 (GRCm38)	Q625*	probably null	Het
Scgb1b21	T	G	7: 33,527,667 (GRCm38)		noncoding transcript	Het
Scrn1	A	T	6: 54,520,769 (GRCm38)	V279E	probably damaging	Het
Sipa1l2	T	C	8: 125,421,895 (GRCm38)	T1670A	probably damaging	Het
Slc9a4	A	T	1: 40,600,962 (GRCm38)	I305F	probably benign	Het
Smarcc1	A	G	9: 110,213,617 (GRCm38)	T918A	probably damaging	Het
Tas2r109	A	T	6: 132,980,426 (GRCm38)	H180Q	probably benign	Het
Tas2r121	G	A	6: 132,700,230 (GRCm38)	R260*	probably null	Het
Tenm3	T	C	8: 48,279,074 (GRCm38)	D1249G	probably benign	Het
Tgtp1	C	G	11: 48,987,530 (GRCm38)	G116A	probably damaging	Het
Tial1	A	G	7: 128,443,910 (GRCm38)	Y317H	probably damaging	Het
Trim66	A	T	7: 109,455,080 (GRCm38)	W1308R	probably damaging	Het
Ulk2	T	G	11: 61,783,545 (GRCm38)	K878N	possibly damaging	Het
Zfp41	T	A	15: 75,618,291 (GRCm38)	S31T	possibly damaging	Het

Other mutations in Pus10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02260:Pus10	APN	11	23,707,548 (GRCm38)	nonsense	probably null
IGL02304:Pus10	APN	11	23,712,275 (GRCm38)	missense	probably damaging	1.00
IGL02466:Pus10	APN	11	23,725,574 (GRCm38)	missense	probably damaging	0.99
IGL02967:Pus10	APN	11	23,718,602 (GRCm38)	missense	probably damaging	1.00
IGL03233:Pus10	APN	11	23,712,241 (GRCm38)	missense	probably damaging	1.00
IGL03300:Pus10	APN	11	23,731,368 (GRCm38)	utr 3 prime	probably benign
PIT4486001:Pus10	UTSW	11	23,712,326 (GRCm38)	critical splice donor site	probably null
PIT4677001:Pus10	UTSW	11	23,720,171 (GRCm38)	missense	possibly damaging	0.88
R0166:Pus10	UTSW	11	23,667,358 (GRCm38)	missense	probably damaging	1.00
R0440:Pus10	UTSW	11	23,673,331 (GRCm38)	unclassified	probably benign
R0519:Pus10	UTSW	11	23,711,201 (GRCm38)	missense	probably benign	0.02
R1714:Pus10	UTSW	11	23,725,542 (GRCm38)	missense	probably damaging	1.00
R1941:Pus10	UTSW	11	23,711,198 (GRCm38)	missense	possibly damaging	0.60
R3687:Pus10	UTSW	11	23,667,334 (GRCm38)	missense	probably benign
R3688:Pus10	UTSW	11	23,667,334 (GRCm38)	missense	probably benign
R3854:Pus10	UTSW	11	23,703,003 (GRCm38)	critical splice donor site	probably null
R4064:Pus10	UTSW	11	23,728,983 (GRCm38)	missense	probably damaging	1.00
R4127:Pus10	UTSW	11	23,718,654 (GRCm38)	critical splice donor site	probably null
R4276:Pus10	UTSW	11	23,706,895 (GRCm38)	missense	probably damaging	1.00
R4655:Pus10	UTSW	11	23,672,707 (GRCm38)	missense	probably benign	0.02
R5302:Pus10	UTSW	11	23,667,416 (GRCm38)	critical splice donor site	probably null
R5580:Pus10	UTSW	11	23,672,556 (GRCm38)	missense	probably benign	0.16
R6196:Pus10	UTSW	11	23,672,638 (GRCm38)	missense	probably benign	0.15
R6549:Pus10	UTSW	11	23,729,075 (GRCm38)	critical splice donor site	probably null
R6722:Pus10	UTSW	11	23,702,975 (GRCm38)	missense	possibly damaging	0.93
R6724:Pus10	UTSW	11	23,729,037 (GRCm38)	missense	possibly damaging	0.78
R9140:Pus10	UTSW	11	23,672,625 (GRCm38)	missense	probably benign	0.00
R9351:Pus10	UTSW	11	23,667,311 (GRCm38)	missense	probably benign	0.00
R9390:Pus10	UTSW	11	23,706,937 (GRCm38)	missense	probably damaging	1.00
R9404:Pus10	UTSW	11	23,711,202 (GRCm38)	missense	possibly damaging	0.88
X0064:Pus10	UTSW	11	23,708,743 (GRCm38)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- ACCGTGTTGACCTGAAACTGCC -3'
(R):5'- GTGGGAGCCTCTGTACCAAGTTTAC -3'

Sequencing Primer
(F):5'- ACCTGAAACTGCCAGTTGTG -3'
(R):5'- AGCCTCTGTACCAAGTTTACATTCC -3'

Posted On

2014-04-24