Mutagenetix > Incidental Mutation

Incidental Mutation 'R0687:Nudt19'

61196

Institutional Source

Beutler Lab

Gene Symbol

Nudt19

Ensembl Gene

ENSMUSG00000034875

Gene Name

nudix hydrolase 19

Synonyms

D7Rp2-r, D7Rp2, D7RP2e, nudix (nucleoside diphosphate linked moiety X)-type motif 19, RP2-r, androgen regulated gene RP2, RP2-s, D7Rp2-s

MMRRC Submission

038872-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0687 (G1)

Quality Score

168

Status

Not validated

Chromosome

Chromosomal Location

35246610-35255729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35250897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 281 (T281S)

Ref Sequence

ENSEMBL: ENSMUSP00000047778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040962]

AlphaFold

P11930

Predicted Effect

probably benign
Transcript: ENSMUST00000040962
AA Change: T281S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047778
Gene: ENSMUSG00000034875
AA Change: T281S

Domain	Start	End	E-Value	Type
Pfam:NUDIX	7	243	5.3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123469

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181932

SMART Domains

Protein: ENSMUSP00000138079
Gene: ENSMUSG00000097509

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
low complexity region	22	40	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa10	T	A	8: 62,545,606 (GRCm39)	D42V	possibly damaging	Het
B3gnt9	T	A	8: 105,981,415 (GRCm39)		probably benign	Het
Ccdc150	A	T	1: 54,324,790 (GRCm39)		probably null	Het
Fstl5	A	G	3: 76,615,119 (GRCm39)	I727V	possibly damaging	Het
Garre1	T	G	7: 33,944,843 (GRCm39)	Q679P	possibly damaging	Het
Mtrex	T	C	13: 113,050,895 (GRCm39)	T227A	probably damaging	Het
Nae1	C	A	8: 105,239,876 (GRCm39)	R484L	probably damaging	Het
Osgin1	T	A	8: 120,172,571 (GRCm39)	V455E	probably damaging	Het
Pcnx3	A	T	19: 5,734,361 (GRCm39)	D655E	probably damaging	Het
Plch1	C	T	3: 63,623,450 (GRCm39)	V617M	probably damaging	Het
Polk	A	T	13: 96,620,525 (GRCm39)	N579K	probably damaging	Het
Scube2	C	A	7: 109,428,335 (GRCm39)	V513F	possibly damaging	Het
Spen	T	C	4: 141,215,339 (GRCm39)	M498V	unknown	Het
Tm7sf3	T	A	6: 146,523,388 (GRCm39)	N163I	possibly damaging	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Usp24	A	T	4: 106,277,701 (GRCm39)	K2277I	probably damaging	Het

Other mutations in Nudt19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Nudt19	APN	7	35,247,336 (GRCm39)	makesense	probably null
IGL01290:Nudt19	APN	7	35,247,501 (GRCm39)	missense	probably damaging	1.00
R0194:Nudt19	UTSW	7	35,250,939 (GRCm39)	missense	probably benign
R4802:Nudt19	UTSW	7	35,255,564 (GRCm39)	utr 5 prime	probably benign
R5044:Nudt19	UTSW	7	35,255,171 (GRCm39)	missense	possibly damaging	0.65
R5144:Nudt19	UTSW	7	35,254,650 (GRCm39)	missense	probably benign
R5704:Nudt19	UTSW	7	35,250,972 (GRCm39)	missense	probably benign
R5837:Nudt19	UTSW	7	35,251,061 (GRCm39)	missense	possibly damaging	0.81
R6111:Nudt19	UTSW	7	35,254,952 (GRCm39)	missense	probably benign	0.06
R8007:Nudt19	UTSW	7	35,255,045 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGATCCCTCAAAACTTGTCAGGAAGC -3'
(R):5'- GTCCCCATCAGAGGCAACTGAATG -3'

Sequencing Primer
(F):5'- TCAAAACTTGTCAGGAAGCATAAGC -3'
(R):5'- CAGAGGCAACTGAATGTTTCC -3'

Posted On

2013-07-30