Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02735:Pudp'

305634

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pudp

Ensembl Gene

ENSMUSG00000048875

Gene Name

pseudouridine 5'-phosphatase

Synonyms

Hdhd1a, GS1, 1700121L12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02735

Quality Score

Status

Chromosome

Chromosomal Location

50700727-50701770 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50701403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 110 (H110R)

Ref Sequence

ENSEMBL: ENSMUSP00000057378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056460]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000056460
AA Change: H110R

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000057378
Gene: ENSMUSG00000048875
AA Change: H110R

Domain	Start	End	E-Value	Type
Pfam:Hydrolase	13	193	3.2e-15	PFAM
Pfam:HAD_2	16	199	5.6e-21	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
Acss1	A	T	2: 150,480,387 (GRCm39)	V228E	probably damaging	Het
Ampd1	T	A	3: 102,992,693 (GRCm39)	M145K	probably damaging	Het
Ankhd1	G	A	18: 36,781,599 (GRCm39)	S2217N	probably benign	Het
Asph	T	A	4: 9,598,759 (GRCm39)	D211V	probably damaging	Het
Cd55b	A	T	1: 130,316,413 (GRCm39)	W379R	probably damaging	Het
Derl3	A	G	10: 75,730,950 (GRCm39)	T201A	probably damaging	Het
Efcab6	A	G	15: 83,783,898 (GRCm39)	L1008P	probably damaging	Het
Eif4g3	A	G	4: 137,853,522 (GRCm39)	I363V	probably benign	Het
Heatr5a	A	G	12: 51,961,804 (GRCm39)	F1058L	probably damaging	Het
Hmcn1	A	T	1: 150,522,583 (GRCm39)	M3439K	probably benign	Het
Ift140	C	A	17: 25,253,009 (GRCm39)		probably benign	Het
Itgad	A	G	7: 127,792,888 (GRCm39)	Y832C	probably damaging	Het
Itgb2	T	A	10: 77,385,833 (GRCm39)	D265E	possibly damaging	Het
Kif19a	A	T	11: 114,676,393 (GRCm39)	E449V	probably damaging	Het
Krt40	T	C	11: 99,429,461 (GRCm39)	E291G	probably damaging	Het
Lama2	T	C	10: 26,980,124 (GRCm39)	N1897S	probably damaging	Het
Lepr	A	G	4: 101,639,835 (GRCm39)	Y767C	probably damaging	Het
Lrrtm4	A	G	6: 80,786,031 (GRCm39)	H546R	probably benign	Het
Marchf6	A	G	15: 31,486,266 (GRCm39)	S362P	probably benign	Het
Med12l	A	G	3: 59,001,067 (GRCm39)	Y734C	probably damaging	Het
Mrps18a	C	T	17: 46,433,725 (GRCm39)	R74C	probably damaging	Het
Mvk	A	G	5: 114,588,880 (GRCm39)	E174G	probably benign	Het
Naip2	A	G	13: 100,296,722 (GRCm39)	S1105P	probably damaging	Het
Nrxn3	A	G	12: 89,221,624 (GRCm39)	M468V	probably benign	Het
Obscn	T	C	11: 58,984,175 (GRCm39)	E1760G	probably damaging	Het
Pcsk5	C	A	19: 17,652,832 (GRCm39)	G285W	probably damaging	Het
Pgpep1l	A	G	7: 67,886,721 (GRCm39)	I196T	probably benign	Het
Phf14	T	C	6: 11,987,611 (GRCm39)	M630T	probably benign	Het
Plod2	T	C	9: 92,477,442 (GRCm39)		probably benign	Het
Poldip2	G	A	11: 78,403,162 (GRCm39)	A9T	probably benign	Het
Pou2f1	A	G	1: 165,703,396 (GRCm39)	S718P	probably damaging	Het
Pramel34	G	A	5: 93,786,503 (GRCm39)	P89S	possibly damaging	Het
Ptpre	A	T	7: 135,269,296 (GRCm39)	Y246F	probably damaging	Het
Scaf4	C	T	16: 90,042,403 (GRCm39)	G646E	unknown	Het
Sec16a	T	A	2: 26,318,149 (GRCm39)		probably benign	Het
Serpina5	A	G	12: 104,070,116 (GRCm39)	T338A	probably benign	Het
Shisa5	T	G	9: 108,885,080 (GRCm39)	F118V	probably damaging	Het
Slc6a21	G	A	7: 44,936,061 (GRCm39)		probably benign	Het
Sprtn	T	A	8: 125,630,126 (GRCm39)	V473E	probably benign	Het
Styxl1	A	G	5: 135,787,996 (GRCm39)	I165T	probably damaging	Het
Tal2	T	A	4: 53,785,906 (GRCm39)	I29N	probably damaging	Het
Tas2r134	T	C	2: 51,517,839 (GRCm39)	I106T	probably damaging	Het
Tmem259	G	A	10: 79,814,973 (GRCm39)	T217I	probably damaging	Het
Trpc6	T	C	9: 8,655,339 (GRCm39)	I723T	probably damaging	Het
Vmn1r211	A	T	13: 23,036,418 (GRCm39)	V83D	probably damaging	Het
Vmn2r103	G	T	17: 20,032,510 (GRCm39)	M761I	probably benign	Het
Ybey	A	T	10: 76,304,160 (GRCm39)	I14N	probably damaging	Het

Other mutations in Pudp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Pudp	APN	18	50,701,349 (GRCm39)	missense	probably damaging	1.00
IGL03178:Pudp	APN	18	50,701,472 (GRCm39)	missense	probably benign	0.23
F5426:Pudp	UTSW	18	50,701,612 (GRCm39)	missense	probably benign	0.00
R1914:Pudp	UTSW	18	50,701,278 (GRCm39)	missense	probably benign	0.06
R1915:Pudp	UTSW	18	50,701,278 (GRCm39)	missense	probably benign	0.06
R2338:Pudp	UTSW	18	50,701,646 (GRCm39)	missense	probably benign	0.01
R3856:Pudp	UTSW	18	50,701,124 (GRCm39)	missense	probably benign	0.34
R4067:Pudp	UTSW	18	50,701,329 (GRCm39)	missense	probably benign	0.06
R4649:Pudp	UTSW	18	50,701,259 (GRCm39)	missense	probably damaging	1.00
R4783:Pudp	UTSW	18	50,701,136 (GRCm39)	missense	probably damaging	1.00
R4784:Pudp	UTSW	18	50,701,136 (GRCm39)	missense	probably damaging	1.00
R4785:Pudp	UTSW	18	50,701,136 (GRCm39)	missense	probably damaging	1.00
R4936:Pudp	UTSW	18	50,701,539 (GRCm39)	missense	probably benign	0.00
R6075:Pudp	UTSW	18	50,701,299 (GRCm39)	missense	probably damaging	1.00
R6430:Pudp	UTSW	18	50,701,307 (GRCm39)	missense	probably benign	0.33
R7285:Pudp	UTSW	18	50,701,287 (GRCm39)	missense	possibly damaging	0.94
R7592:Pudp	UTSW	18	50,701,053 (GRCm39)	missense	probably damaging	1.00
R8012:Pudp	UTSW	18	50,701,310 (GRCm39)	missense	possibly damaging	0.48
R9304:Pudp	UTSW	18	50,701,670 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16