Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02967:Pus10'

365632

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pus10

Ensembl Gene

ENSMUSG00000020280

Gene Name

pseudouridylate synthase 10

Synonyms

Ccdc139, 4933435A13Rik, 2810013G11Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02967

Quality Score

Status

Chromosome

Chromosomal Location

23615674-23682876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23668602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 360 (N360D)

Ref Sequence

ENSEMBL: ENSMUSP00000105151 (fasta)

Gene Model

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

AlphaFold

Q9D3U0

Predicted Effect

probably damaging
Transcript: ENSMUST00000020520
AA Change: N360D

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

SMART Domains

Protein: ENSMUSP00000020520
Gene: ENSMUSG00000020280
AA Change: N360D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000058163
AA Change: N360D

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

SMART Domains

Protein: ENSMUSP00000050395
Gene: ENSMUSG00000020280
AA Change: N360D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109525
AA Change: N360D

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

SMART Domains

Protein: ENSMUSP00000105151
Gene: ENSMUSG00000020280
AA Change: N360D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142287

Coding Region Coverage

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,328,291 (GRCm39)	T3455A	probably damaging	Het
Abca8a	G	A	11: 109,941,762 (GRCm39)	P1169L	probably damaging	Het
Ablim3	T	A	18: 61,959,574 (GRCm39)	K272*	probably null	Het
Abtb3	A	G	10: 85,469,646 (GRCm39)	T856A	probably benign	Het
Acin1	A	G	14: 54,880,210 (GRCm39)	V574A	possibly damaging	Het
Acot4	A	T	12: 84,090,235 (GRCm39)	I311L	probably benign	Het
Akap9	C	T	5: 4,026,164 (GRCm39)	A1273V	probably benign	Het
Ap1g2	T	A	14: 55,342,479 (GRCm39)		probably benign	Het
Apob	A	T	12: 8,065,366 (GRCm39)	K4112*	probably null	Het
Aspdh	A	G	7: 44,114,963 (GRCm39)		probably null	Het
Atf7ip	T	C	6: 136,583,725 (GRCm39)	I1252T	probably damaging	Het
Avpr1a	A	G	10: 122,285,367 (GRCm39)	T220A	possibly damaging	Het
Bdp1	A	G	13: 100,178,778 (GRCm39)	F1856S	possibly damaging	Het
Cit	A	T	5: 116,083,896 (GRCm39)	N743I	probably benign	Het
Clvs2	T	C	10: 33,471,784 (GRCm39)	K174E	probably damaging	Het
Cyp4f40	A	T	17: 32,893,222 (GRCm39)	Q351L	probably damaging	Het
Dmbt1	G	T	7: 130,672,919 (GRCm39)	V550L	possibly damaging	Het
Edem1	T	G	6: 108,813,738 (GRCm39)	S178A	probably damaging	Het
Fam222b	C	T	11: 78,044,934 (GRCm39)	A165V	probably benign	Het
Fer	T	C	17: 64,203,262 (GRCm39)	V64A	possibly damaging	Het
Fggy	T	G	4: 95,814,986 (GRCm39)	F535C	possibly damaging	Het
Fkbp15	A	T	4: 62,222,627 (GRCm39)	S1091T	probably damaging	Het
Fstl5	G	A	3: 76,229,498 (GRCm39)	V100M	probably damaging	Het
Fut7	G	T	2: 25,315,155 (GRCm39)	V91L	probably damaging	Het
Gemin4	A	T	11: 76,103,067 (GRCm39)	C565S	probably damaging	Het
Gzmm	C	T	10: 79,530,897 (GRCm39)	T233I	possibly damaging	Het
Hps5	A	T	7: 46,418,804 (GRCm39)	L789Q	possibly damaging	Het
Krt32	G	A	11: 99,974,876 (GRCm39)	S357F	possibly damaging	Het
Lrig2	C	T	3: 104,401,512 (GRCm39)		probably benign	Het
Lrp8	C	A	4: 107,718,431 (GRCm39)	Q678K	probably benign	Het
Mmp27	C	A	9: 7,571,591 (GRCm39)	Q45K	probably benign	Het
Myh1	A	G	11: 67,099,896 (GRCm39)	D602G	possibly damaging	Het
Ncoa1	G	T	12: 4,345,294 (GRCm39)	H684Q	probably damaging	Het
Nol9	T	C	4: 152,125,559 (GRCm39)	V170A	possibly damaging	Het
Notch2	A	G	3: 98,053,460 (GRCm39)	D2041G	probably damaging	Het
Nrg3	G	T	14: 38,390,256 (GRCm39)		probably benign	Het
Nuak1	T	A	10: 84,276,085 (GRCm39)	H46L	probably damaging	Het
Pdzd2	G	T	15: 12,374,427 (GRCm39)	Q1903K	probably benign	Het
Pik3c2g	T	C	6: 139,913,554 (GRCm39)	V616A	probably damaging	Het
Ppp6c	A	G	2: 39,116,229 (GRCm39)	Y9H	probably damaging	Het
Prdm11	A	T	2: 92,843,234 (GRCm39)	F75Y	probably damaging	Het
Prelid1	G	A	13: 55,472,219 (GRCm39)	V132I	probably benign	Het
Prom1	A	G	5: 44,201,740 (GRCm39)	S227P	probably damaging	Het
Psmb5	G	A	14: 54,854,083 (GRCm39)	R132C	probably benign	Het
Pygm	G	A	19: 6,443,868 (GRCm39)	V610M	probably damaging	Het
Setd1a	A	G	7: 127,384,349 (GRCm39)		probably benign	Het
Sfmbt1	T	A	14: 30,538,759 (GRCm39)	W793R	probably damaging	Het
Slc25a4	A	G	8: 46,662,187 (GRCm39)	L157P	probably damaging	Het
Sost	T	G	11: 101,855,084 (GRCm39)	E75A	possibly damaging	Het
Tdrd9	A	G	12: 111,958,922 (GRCm39)	S119G	possibly damaging	Het
Tepsin	A	G	11: 119,984,954 (GRCm39)	I238T	probably benign	Het
Tfr2	T	A	5: 137,581,081 (GRCm39)	L507*	probably null	Het
Tmem106a	T	C	11: 101,477,121 (GRCm39)	I110T	possibly damaging	Het
Tmem38a	A	T	8: 73,339,926 (GRCm39)	D298V	possibly damaging	Het
Tmprss12	A	T	15: 100,183,262 (GRCm39)	R201S	probably benign	Het
Ugt2b36	T	C	5: 87,238,759 (GRCm39)	T271A	possibly damaging	Het
Virma	T	G	4: 11,514,096 (GRCm39)	V650G	probably benign	Het
Vmn1r220	A	T	13: 23,368,162 (GRCm39)	I178N	probably damaging	Het
Zfp609	A	G	9: 65,604,901 (GRCm39)	S1276P	possibly damaging	Het
Zfp809	A	G	9: 22,146,398 (GRCm39)	Y29C	probably damaging	Het

Other mutations in Pus10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02260:Pus10	APN	11	23,657,548 (GRCm39)	nonsense	probably null
IGL02304:Pus10	APN	11	23,662,275 (GRCm39)	missense	probably damaging	1.00
IGL02466:Pus10	APN	11	23,675,574 (GRCm39)	missense	probably damaging	0.99
IGL03233:Pus10	APN	11	23,662,241 (GRCm39)	missense	probably damaging	1.00
IGL03300:Pus10	APN	11	23,681,368 (GRCm39)	utr 3 prime	probably benign
PIT4486001:Pus10	UTSW	11	23,662,326 (GRCm39)	critical splice donor site	probably null
PIT4677001:Pus10	UTSW	11	23,670,171 (GRCm39)	missense	possibly damaging	0.88
R0166:Pus10	UTSW	11	23,617,358 (GRCm39)	missense	probably damaging	1.00
R0440:Pus10	UTSW	11	23,623,331 (GRCm39)	unclassified	probably benign
R0519:Pus10	UTSW	11	23,661,201 (GRCm39)	missense	probably benign	0.02
R1583:Pus10	UTSW	11	23,623,239 (GRCm39)	missense	probably damaging	0.96
R1714:Pus10	UTSW	11	23,675,542 (GRCm39)	missense	probably damaging	1.00
R1941:Pus10	UTSW	11	23,661,198 (GRCm39)	missense	possibly damaging	0.60
R3687:Pus10	UTSW	11	23,617,334 (GRCm39)	missense	probably benign
R3688:Pus10	UTSW	11	23,617,334 (GRCm39)	missense	probably benign
R3854:Pus10	UTSW	11	23,653,003 (GRCm39)	critical splice donor site	probably null
R4064:Pus10	UTSW	11	23,678,983 (GRCm39)	missense	probably damaging	1.00
R4127:Pus10	UTSW	11	23,668,654 (GRCm39)	critical splice donor site	probably null
R4276:Pus10	UTSW	11	23,656,895 (GRCm39)	missense	probably damaging	1.00
R4655:Pus10	UTSW	11	23,622,707 (GRCm39)	missense	probably benign	0.02
R5302:Pus10	UTSW	11	23,617,416 (GRCm39)	critical splice donor site	probably null
R5580:Pus10	UTSW	11	23,622,556 (GRCm39)	missense	probably benign	0.16
R6196:Pus10	UTSW	11	23,622,638 (GRCm39)	missense	probably benign	0.15
R6549:Pus10	UTSW	11	23,679,075 (GRCm39)	critical splice donor site	probably null
R6722:Pus10	UTSW	11	23,652,975 (GRCm39)	missense	possibly damaging	0.93
R6724:Pus10	UTSW	11	23,679,037 (GRCm39)	missense	possibly damaging	0.78
R9140:Pus10	UTSW	11	23,622,625 (GRCm39)	missense	probably benign	0.00
R9351:Pus10	UTSW	11	23,617,311 (GRCm39)	missense	probably benign	0.00
R9390:Pus10	UTSW	11	23,656,937 (GRCm39)	missense	probably damaging	1.00
R9404:Pus10	UTSW	11	23,661,202 (GRCm39)	missense	possibly damaging	0.88
X0064:Pus10	UTSW	11	23,658,743 (GRCm39)	splice site	probably null

Posted On

2015-12-18