Mutagenetix > Incidental Mutation

Incidental Mutation 'R1340:Nt5c3'

156990

Institutional Source

Beutler Lab

Gene Symbol

Nt5c3

Ensembl Gene

ENSMUSG00000029780

Gene Name

5'-nucleotidase, cytosolic III

Synonyms

lupin, cN-III, Umph-1, p36, 1600024P05Rik, PN-1, 2610206B05Rik, Umph1, PN-I, PSN1

MMRRC Submission

039405-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R1340 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56859385-56900917 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56860018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 273 (M273T)

Ref Sequence

ENSEMBL: ENSMUSP00000098918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031793] [ENSMUST00000031795] [ENSMUST00000101367] [ENSMUST00000135558] [ENSMUST00000152447]

AlphaFold

Q9D020

Predicted Effect

probably benign
Transcript: ENSMUST00000031793
AA Change: M307T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000031793
Gene: ENSMUSG00000029780
AA Change: M307T

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
Pfam:UMPH-1	86	331	5.6e-119	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000031795

SMART Domains

Protein: ENSMUSP00000031795
Gene: ENSMUSG00000029781

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:FKBP_C	47	139	8.2e-31	PFAM
Pfam:FKBP_C	159	251	5.8e-28	PFAM
Pfam:FKBP_C	271	362	1.3e-27	PFAM
Pfam:FKBP_C	382	474	2.8e-27	PFAM
EFh	492	520	2.35e0	SMART
EFh	537	565	1.98e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000101367
AA Change: M273T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000098918
Gene: ENSMUSG00000029780
AA Change: M273T

Domain	Start	End	E-Value	Type
Pfam:UMPH-1	52	297	2.1e-118	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126137

Predicted Effect

probably benign
Transcript: ENSMUST00000135558

SMART Domains

Protein: ENSMUSP00000145230
Gene: ENSMUSG00000029780

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152447

Predicted Effect

probably benign
Transcript: ENSMUST00000205087

Meta Mutation Damage Score

0.1353

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 89.9%

Validation Efficiency

100% (52/52)

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 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,628,581 (GRCm39)		probably benign	Het
Acat3	C	T	17: 13,148,564 (GRCm39)		probably benign	Het
Actn1	T	C	12: 80,219,918 (GRCm39)		probably null	Het
Adam8	G	A	7: 139,571,290 (GRCm39)	S38F	probably damaging	Het
Aldh9a1	T	G	1: 167,184,913 (GRCm39)	I275S	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Alms1	G	A	6: 85,644,939 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,113,695 (GRCm39)	N1289S	probably benign	Het
Cacna1d	A	G	14: 29,794,024 (GRCm39)	V1539A	probably damaging	Het
Cacna1e	A	G	1: 154,348,403 (GRCm39)	L724P	probably damaging	Het
Ccdc110	A	G	8: 46,395,218 (GRCm39)	T370A	probably benign	Het
Ccdc9	G	A	7: 16,009,315 (GRCm39)		probably benign	Het
Cep120	A	T	18: 53,857,463 (GRCm39)	V334E	probably damaging	Het
Ces3a	C	T	8: 105,784,545 (GRCm39)	P462L	probably damaging	Het
Cgref1	A	G	5: 31,102,690 (GRCm39)		probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Csrnp3	T	A	2: 65,832,740 (GRCm39)	F81Y	probably damaging	Het
Ddr2	T	C	1: 169,825,653 (GRCm39)	T316A	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Epb41l5	A	T	1: 119,476,861 (GRCm39)	*740R	probably null	Het
Gfpt2	A	G	11: 49,723,688 (GRCm39)	K559E	probably damaging	Het
Gm2381	A	G	7: 42,469,828 (GRCm39)	Y99H	possibly damaging	Het
Gsdma2	T	C	11: 98,548,475 (GRCm39)	V242A	probably damaging	Het
Lrp1b	T	C	2: 40,592,806 (GRCm39)	N3771S	probably benign	Het
Lrriq4	A	C	3: 30,704,472 (GRCm39)	T167P	possibly damaging	Het
Mtarc2	T	C	1: 184,554,744 (GRCm39)	T254A	probably benign	Het
Naip2	G	A	13: 100,325,630 (GRCm39)	L93F	possibly damaging	Het
Nefh	G	GNNNNNNNNNNNNNNNNNN	11: 4,891,002 (GRCm39)		probably benign	Het
Nrp1	T	C	8: 129,160,836 (GRCm39)	S321P	probably damaging	Het
Nt5c1b	T	C	12: 10,427,276 (GRCm39)	V342A	probably damaging	Het
Or12j2	A	G	7: 139,916,038 (GRCm39)	T88A	probably benign	Het
Or1l4b	T	G	2: 37,036,769 (GRCm39)	L182V	probably benign	Het
Or6b1	G	A	6: 42,814,943 (GRCm39)	V43M	probably benign	Het
Polr3f	A	G	2: 144,380,548 (GRCm39)	H297R	probably benign	Het
Ptgs2	T	G	1: 149,981,228 (GRCm39)	F504V	probably damaging	Het
Ptpro	C	T	6: 137,418,079 (GRCm39)	P142L	possibly damaging	Het
Rps17	A	G	7: 80,993,481 (GRCm39)		probably null	Het
Ryr1	A	G	7: 28,815,437 (GRCm39)	S132P	probably damaging	Het
Sacs	T	C	14: 61,441,958 (GRCm39)	S1335P	probably damaging	Het
Senp6	T	C	9: 80,029,305 (GRCm39)	V383A	possibly damaging	Het
Skint7	T	C	4: 111,837,416 (GRCm39)	F65L	probably damaging	Het
Slc35f1	T	C	10: 52,965,550 (GRCm39)	Y322H	probably damaging	Het
Slc38a4	C	A	15: 96,908,153 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sox15	T	A	11: 69,546,373 (GRCm39)	S59T	probably damaging	Het
Srcap	T	A	7: 127,159,910 (GRCm39)		probably benign	Het
Txlnb	A	T	10: 17,718,488 (GRCm39)	I440F	probably damaging	Het
Vmn1r178	A	G	7: 23,593,281 (GRCm39)	S37G	probably benign	Het
Vmn2r75	T	C	7: 85,797,798 (GRCm39)	T672A	probably damaging	Het
Wscd1	T	C	11: 71,659,586 (GRCm39)	V222A	probably benign	Het

Other mutations in Nt5c3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02142:Nt5c3	APN	6	56,863,670 (GRCm39)	missense	probably damaging	1.00
IGL02819:Nt5c3	APN	6	56,860,718 (GRCm39)	missense	probably damaging	1.00
R0426:Nt5c3	UTSW	6	56,860,797 (GRCm39)	missense	probably benign
R0523:Nt5c3	UTSW	6	56,860,666 (GRCm39)	missense	probably damaging	1.00
R0791:Nt5c3	UTSW	6	56,863,734 (GRCm39)	missense	probably benign	0.02
R0792:Nt5c3	UTSW	6	56,863,734 (GRCm39)	missense	probably benign	0.02
R3703:Nt5c3	UTSW	6	56,860,652 (GRCm39)	unclassified	probably benign
R5942:Nt5c3	UTSW	6	56,874,839 (GRCm39)	splice site	probably null
R6047:Nt5c3	UTSW	6	56,859,964 (GRCm39)	missense	probably damaging	0.99
R6894:Nt5c3	UTSW	6	56,859,958 (GRCm39)	nonsense	probably null
R7923:Nt5c3	UTSW	6	56,860,027 (GRCm39)	missense	probably benign	0.12
R8708:Nt5c3	UTSW	6	56,874,758 (GRCm39)	critical splice donor site	probably null
R8753:Nt5c3	UTSW	6	56,860,677 (GRCm39)	missense	probably damaging	1.00
R8937:Nt5c3	UTSW	6	56,861,701 (GRCm39)	missense	probably damaging	1.00
R9198:Nt5c3	UTSW	6	56,859,955 (GRCm39)	missense	probably benign	0.03
R9206:Nt5c3	UTSW	6	56,874,793 (GRCm39)	start codon destroyed	probably null	0.72

Predicted Primers

PCR Primer
(F):5'- CCACACGTCTGAAGATCGTCTGTTG -3'
(R):5'- TGCAAAGCTGCCCAGAGTCAGAAC -3'

Sequencing Primer
(F):5'- CTGAAGATCGTCTGTTGGGAAAAG -3'
(R):5'- tgatgctgaggcaggagg -3'

Posted On

2014-02-11