Mutagenetix > Incidental Mutation

Incidental Mutation 'R8012:Pudp'

616968

Institutional Source

Beutler Lab

Gene Symbol

Pudp

Ensembl Gene

ENSMUSG00000048875

Gene Name

pseudouridine 5'-phosphatase

Synonyms

Hdhd1a, GS1, 1700121L12Rik

MMRRC Submission

046052-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50700727-50701770 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 50701310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 141 (H141P)

Ref Sequence

ENSEMBL: ENSMUSP00000057378 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056460
AA Change: H141P

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000057378
Gene: ENSMUSG00000048875
AA Change: H141P

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

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (44/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	T	A	4: 144,429,972 (GRCm39)	D339V	possibly damaging	Het
Adam19	A	G	11: 45,955,873 (GRCm39)	E73G	possibly damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Alas1	A	T	9: 106,123,962 (GRCm39)	N65K	probably benign	Het
Amigo1	T	A	3: 108,095,958 (GRCm39)	S486T	probably damaging	Het
Arid1a	A	G	4: 133,420,174 (GRCm39)	L591S	unknown	Het
Asic1	T	C	15: 99,594,532 (GRCm39)	V326A	possibly damaging	Het
Aspm	A	G	1: 139,385,202 (GRCm39)	N282S	probably benign	Het
Atad5	A	G	11: 79,985,066 (GRCm39)	D51G	probably damaging	Het
Brd10	A	G	19: 29,695,534 (GRCm39)	S1320P	possibly damaging	Het
Cabp5	A	T	7: 13,141,706 (GRCm39)		probably null	Het
Cdca2	A	G	14: 67,914,821 (GRCm39)	C813R	probably benign	Het
Chpf2	A	T	5: 24,795,343 (GRCm39)	R289W	probably damaging	Het
Csf1r	A	T	18: 61,250,136 (GRCm39)	N367I	possibly damaging	Het
Cyp2c66	T	C	19: 39,172,369 (GRCm39)	F428S	probably damaging	Het
Dgkb	A	T	12: 38,189,485 (GRCm39)	N296I	probably benign	Het
Dhcr24	T	C	4: 106,443,853 (GRCm39)	F481S	probably damaging	Het
Diaph3	T	C	14: 87,274,958 (GRCm39)	Y166C	probably benign	Het
Dnah7b	A	T	1: 46,282,525 (GRCm39)	Q2886L	probably damaging	Het
Dock6	A	T	9: 21,757,807 (GRCm39)	V99E	probably benign	Het
F830045P16Rik	T	C	2: 129,316,352 (GRCm39)	D119G	possibly damaging	Het
Fasn	A	T	11: 120,702,428 (GRCm39)	L1773Q	probably damaging	Het
Filip1	A	T	9: 79,725,241 (GRCm39)	V1126E	probably damaging	Het
Fnta	T	C	8: 26,489,535 (GRCm39)	I359V	probably benign	Het
Hoxc10	T	C	15: 102,875,902 (GRCm39)	S204P	probably benign	Het
Kif26b	T	C	1: 178,743,815 (GRCm39)	C1304R	probably benign	Het
Lamc1	T	C	1: 153,097,358 (GRCm39)	E1562G	probably benign	Het
Lrguk	A	G	6: 34,033,038 (GRCm39)	N235D	probably benign	Het
Ly6g6f	T	C	17: 35,300,060 (GRCm39)	R263G	possibly damaging	Het
Mcrs1	C	A	15: 99,147,766 (GRCm39)	S47I	probably damaging	Het
Mx1	T	A	16: 97,258,572 (GRCm39)	I42F	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Nup188	T	A	2: 30,227,277 (GRCm39)	C1235S	possibly damaging	Het
Obsl1	T	A	1: 75,469,317 (GRCm39)	H1208L	probably benign	Het
Pcmt1	T	C	10: 7,516,527 (GRCm39)	D175G	probably benign	Het
Pcolce	T	C	5: 137,603,457 (GRCm39)	K459E	probably benign	Het
Rock2	T	C	12: 16,992,743 (GRCm39)	Y171H	probably damaging	Het
Rwdd1	A	C	10: 33,885,198 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,522,565 (GRCm39)	V1085A	probably benign	Het
Tie1	A	G	4: 118,343,678 (GRCm39)	L88P	possibly damaging	Het
Tmem131	T	C	1: 36,847,045 (GRCm39)	D1351G	probably damaging	Het
Tph1	A	T	7: 46,306,303 (GRCm39)	D219E	probably damaging	Het
Wdr86	A	G	5: 24,935,177 (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
R7592:Pudp	UTSW	18	50,701,053 (GRCm39)	missense	probably damaging	1.00
R9304:Pudp	UTSW	18	50,701,670 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCATGACGACCTGCATCC -3'
(R):5'- GCACAGACCATAGTAGAGTTCCTC -3'

Sequencing Primer
(F):5'- ACCTGCATCCCACAGTGGATG -3'
(R):5'- CCATAGTAGAGTTCCTCAATTTACCC -3'

Posted On

2020-01-23