Mutagenetix > Incidental Mutation

Incidental Mutation 'R6075:Pudp'

482721

Institutional Source

Beutler Lab

Gene Symbol

Pudp

Ensembl Gene

ENSMUSG00000048875

Gene Name

pseudouridine 5'-phosphatase

Synonyms

Hdhd1a, GS1, 1700121L12Rik

MMRRC Submission

044236-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6075 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50700727-50701770 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 50701299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 145 (G145W)

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: G145W

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

SMART Domains

Protein: ENSMUSP00000057378
Gene: ENSMUSG00000048875
AA Change: G145W

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

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Areg	A	T	5: 91,291,456 (GRCm39)	K133M	probably damaging	Het
Atxn2l	A	T	7: 126,091,689 (GRCm39)	D1076E	possibly damaging	Het
Barhl1	T	C	2: 28,805,231 (GRCm39)	Y154C	probably damaging	Het
BC048507	A	G	13: 68,011,823 (GRCm39)	T67A	probably benign	Het
Cacna1g	T	A	11: 94,307,491 (GRCm39)	I1746F	probably damaging	Het
Ccdc34	T	C	2: 109,874,580 (GRCm39)	I313T	possibly damaging	Het
Cma1	T	A	14: 56,179,771 (GRCm39)	I138F	probably damaging	Het
Col5a2	A	G	1: 45,542,008 (GRCm39)	S23P	unknown	Het
Csmd2	C	A	4: 128,380,658 (GRCm39)	S2071R	probably benign	Het
Cyp2j11	T	G	4: 96,233,322 (GRCm39)	N125H	probably benign	Het
Dchs2	A	G	3: 83,262,368 (GRCm39)	R2879G	possibly damaging	Het
Dnah11	A	T	12: 118,068,586 (GRCm39)	C1591S	probably damaging	Het
Dock9	C	T	14: 121,783,385 (GRCm39)	R2038H	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fbxo21	G	A	5: 118,126,948 (GRCm39)	R233H	probably damaging	Het
Firrm	T	C	1: 163,805,656 (GRCm39)	Y316C	probably damaging	Het
Gm6526	A	G	14: 43,986,331 (GRCm39)	I86V	probably damaging	Het
Gpr107	T	A	2: 31,042,384 (GRCm39)	V5E	probably benign	Het
Hat1	A	T	2: 71,240,585 (GRCm39)	D93V	probably benign	Het
Kctd21	T	A	7: 96,996,614 (GRCm39)	L29Q	probably damaging	Het
Kl	C	G	5: 150,876,466 (GRCm39)	F95L	probably damaging	Het
Lsamp	A	G	16: 41,954,788 (GRCm39)	K229E	probably benign	Het
Mcm5	A	G	8: 75,840,825 (GRCm39)	D210G	probably damaging	Het
Mdn1	T	C	4: 32,689,581 (GRCm39)	V930A	possibly damaging	Het
Megf6	T	A	4: 154,347,056 (GRCm39)	C652*	probably null	Het
Nae1	A	T	8: 105,251,001 (GRCm39)	L196H	possibly damaging	Het
Ncor1	G	T	11: 62,208,675 (GRCm39)	D156E	probably damaging	Het
Nop14	A	T	5: 34,817,235 (GRCm39)	V52E	probably damaging	Het
Nova2	G	A	7: 18,691,794 (GRCm39)	A244T	unknown	Het
Parp14	A	T	16: 35,677,389 (GRCm39)	C860S	probably damaging	Het
Ptpn4	T	C	1: 119,692,866 (GRCm39)	Y161C	probably damaging	Het
Ptpn9	T	A	9: 56,968,430 (GRCm39)	M590K	probably benign	Het
Ptprq	A	G	10: 107,361,621 (GRCm39)	I2130T	probably damaging	Het
Pxk	A	G	14: 8,150,964 (GRCm38)	K423R	probably benign	Het
Ryr1	A	G	7: 28,786,863 (GRCm39)	S1584P	probably damaging	Het
Scap	G	A	9: 110,207,845 (GRCm39)	R518H	probably damaging	Het
Slc5a12	T	C	2: 110,447,092 (GRCm39)	L200P	probably damaging	Het
Sntg1	T	A	1: 8,749,338 (GRCm39)	*72Y	probably null	Het
Speer4f1	A	C	5: 17,684,482 (GRCm39)	Q170P	possibly damaging	Het
Taar7d	A	C	10: 23,903,558 (GRCm39)	I147L	probably benign	Het
Tet2	T	C	3: 133,177,196 (GRCm39)	K1284E	possibly damaging	Het
Trpm2	A	C	10: 77,770,877 (GRCm39)		probably null	Het
Washc2	T	A	6: 116,204,327 (GRCm39)	S412T	probably benign	Het
Zfyve26	A	G	12: 79,340,628 (GRCm39)	V82A	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- CTTGAAGTCGTGGAGGGAAC -3'
(R):5'- AGCTGCAGATGGTGTTGCAC -3'

Posted On

2017-07-14