Mutagenetix > Incidental Mutation

Incidental Mutation 'R7592:Pudp'

587482

Institutional Source

Beutler Lab

Gene Symbol

Pudp

Ensembl Gene

ENSMUSG00000048875

Gene Name

pseudouridine 5'-phosphatase

Synonyms

Hdhd1a, GS1, 1700121L12Rik

MMRRC Submission

045639-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7592 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50700727-50701770 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50701053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 227 (F227I)

Ref Sequence

ENSEMBL: ENSMUSP00000057378 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000056460
AA Change: F227I

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

SMART Domains

Protein: ENSMUSP00000057378
Gene: ENSMUSG00000048875
AA Change: F227I

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (56/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,667,138 (GRCm39)	T204A	unknown	Het
Abca12	T	C	1: 71,327,836 (GRCm39)	T1415A	probably benign	Het
Adamtsl3	A	G	7: 81,986,459 (GRCm39)	T24A	probably benign	Het
Ankrd13b	A	C	11: 77,367,327 (GRCm39)	V194G	probably benign	Het
Aurkc	C	T	7: 7,003,006 (GRCm39)	T167I	probably benign	Het
Capn1	T	C	19: 6,064,469 (GRCm39)	Y10C	probably benign	Het
Ccnk	T	C	12: 108,152,724 (GRCm39)	S14P	possibly damaging	Het
Cebpe	T	A	14: 54,949,298 (GRCm39)	I40F	probably damaging	Het
Cers3	G	A	7: 66,439,377 (GRCm39)	C296Y	probably damaging	Het
Cog8	A	T	8: 107,776,861 (GRCm39)	C505S	possibly damaging	Het
Col4a3	A	G	1: 82,626,338 (GRCm39)	I92V	unknown	Het
Col5a3	T	A	9: 20,708,689 (GRCm39)	H645L	unknown	Het
Crispld1	A	T	1: 17,798,990 (GRCm39)	E37V	possibly damaging	Het
Csmd2	A	G	4: 128,357,591 (GRCm39)	Y1684C		Het
Cstdc5	A	T	16: 36,187,862 (GRCm39)	M1K	probably null	Het
Dcst1	C	A	3: 89,260,599 (GRCm39)	S555I	probably benign	Het
Drc1	A	G	5: 30,499,060 (GRCm39)	S70G	possibly damaging	Het
Elavl2	A	T	4: 91,199,808 (GRCm39)		probably null	Het
Emc1	A	G	4: 139,087,877 (GRCm39)	H300R	probably benign	Het
Gcnt4	G	A	13: 97,083,669 (GRCm39)	V322I	probably benign	Het
Gsg1l2	A	G	11: 67,665,584 (GRCm39)	N51D	probably benign	Het
Gucy2e	A	T	11: 69,114,150 (GRCm39)		probably null	Het
Hip1r	A	G	5: 124,136,036 (GRCm39)	E579G	probably benign	Het
Hoxa4	T	C	6: 52,168,520 (GRCm39)	H50R	unknown	Het
Htr7	T	C	19: 36,034,292 (GRCm39)	Y121C	probably damaging	Het
Ift43	G	A	12: 86,207,964 (GRCm39)	D111N	probably damaging	Het
Itih3	A	G	14: 30,630,722 (GRCm39)	V863A	probably damaging	Het
Macf1	T	C	4: 123,304,686 (GRCm39)		probably benign	Het
Mgat3	A	G	15: 80,095,193 (GRCm39)	K7E	probably damaging	Het
Ndst4	T	A	3: 125,364,436 (GRCm39)	V371E	probably damaging	Het
Npr1	T	G	3: 90,372,323 (GRCm39)	D163A	possibly damaging	Het
Nudt12	T	C	17: 59,313,589 (GRCm39)	I330V	probably benign	Het
Or2a20	T	G	6: 43,194,179 (GRCm39)	C111G	probably damaging	Het
Or4k2	T	A	14: 50,424,020 (GRCm39)	Y219F	probably damaging	Het
Or51l4	C	A	7: 103,404,279 (GRCm39)	C171F	probably damaging	Het
Or7g32	C	A	9: 19,389,128 (GRCm39)	M139I	possibly damaging	Het
Poc1a	A	T	9: 106,226,967 (GRCm39)	R402S	probably benign	Het
Prex2	G	T	1: 11,193,437 (GRCm39)	V470L	probably damaging	Het
Prom1	T	C	5: 44,220,469 (GRCm39)	E93G	probably damaging	Het
Psma1	A	T	7: 113,868,961 (GRCm39)	M180K	probably benign	Het
Rab15	T	A	12: 76,851,223 (GRCm39)	Q60L	probably damaging	Het
Scaf8	T	C	17: 3,221,497 (GRCm39)		probably null	Het
Septin9	T	A	11: 117,181,488 (GRCm39)	I96N	probably damaging	Het
Sez6	T	C	11: 77,868,876 (GRCm39)	S976P	probably damaging	Het
Slc2a12	A	G	10: 22,540,802 (GRCm39)	Y219C	probably damaging	Het
Slc38a9	T	A	13: 112,831,889 (GRCm39)	I213K	probably damaging	Het
Stil	T	A	4: 114,881,005 (GRCm39)	D516E	probably benign	Het
Supt20	A	G	3: 54,614,543 (GRCm39)	D184G	probably damaging	Het
Tars3	G	A	7: 65,308,619 (GRCm39)	S263N	probably benign	Het
Tmem181a	C	A	17: 6,339,295 (GRCm39)	T68K	probably benign	Het
Trav21-dv12	G	T	14: 54,113,997 (GRCm39)	C39F	probably damaging	Het
Tshz1	T	C	18: 84,032,173 (GRCm39)	E745G	probably damaging	Het
Ugt1a8	T	A	1: 88,015,904 (GRCm39)	F106I	probably benign	Het
Vmn1r39	C	A	6: 66,781,428 (GRCm39)	V297L	probably benign	Het
Vmn2r101	G	A	17: 19,811,443 (GRCm39)		probably null	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,060,768 (GRCm39)		probably null	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
IGL02735:Pudp	APN	18	50,701,403 (GRCm39)	missense	probably benign	0.10
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
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

Predicted Primers

PCR Primer
(F):5'- ATGGCCAGTCTAAGCTCTGG -3'
(R):5'- CCTGATCCAAAAGACTGCCTCG -3'

Sequencing Primer
(F):5'- CTGTCAAATGTAGAGCAAATCACAG -3'
(R):5'- AAGACTGCCTCGTCTTTGAAG -3'

Posted On

2019-10-24