Mutagenetix > Incidental Mutation

Incidental Mutation 'R8937:Nt5c3'

680718

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

068710-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R8937 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56859385-56900917 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56861701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 195 (D195G)

Ref Sequence

ENSEMBL: ENSMUSP00000098918 (fasta)

Gene Model

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

AlphaFold

Q9D020

Predicted Effect

probably benign
Transcript: ENSMUST00000031793
AA Change: D229G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000031793
Gene: ENSMUSG00000029780
AA Change: D229G

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 damaging
Transcript: ENSMUST00000101367
AA Change: D195G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000098918
Gene: ENSMUSG00000029780
AA Change: D195G

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (71/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930455H04Rik	C	A	3: 116,762,120 (GRCm39)		probably benign	Het
Actn3	C	T	19: 4,921,798 (GRCm39)		probably null	Het
Akap13	T	A	7: 75,184,601 (GRCm39)		probably null	Het
Akap9	A	T	5: 4,094,048 (GRCm39)	Q2190L	possibly damaging	Het
Ankrd6	A	T	4: 32,823,452 (GRCm39)	V190D	possibly damaging	Het
Atrn	T	A	2: 130,841,157 (GRCm39)	D1186E	probably benign	Het
Bank1	A	T	3: 135,989,934 (GRCm39)	V52E	probably damaging	Het
Blmh	A	G	11: 76,857,883 (GRCm39)	N342D	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ces2f	A	G	8: 105,677,669 (GRCm39)	T225A	probably damaging	Het
Clic6	G	T	16: 92,296,245 (GRCm39)	D302Y	probably damaging	Het
Clmn	T	A	12: 104,763,341 (GRCm39)	N95I	probably damaging	Het
Cmya5	A	T	13: 93,232,840 (GRCm39)	F749L	probably benign	Het
Cramp1	A	G	17: 25,202,956 (GRCm39)	F358L	probably damaging	Het
Dhx38	T	C	8: 110,283,098 (GRCm39)	D573G	probably damaging	Het
Dync1h1	T	C	12: 110,584,471 (GRCm39)	Y625H	probably damaging	Het
Enpep	A	G	3: 129,115,007 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,483,350 (GRCm39)	L3146P	probably damaging	Het
Gal3st2b	G	A	1: 93,868,570 (GRCm39)	S265N	probably benign	Het
Glis3	G	A	19: 28,643,266 (GRCm39)	A92V	possibly damaging	Het
Gm266	T	C	12: 111,452,173 (GRCm39)	D11G	probably benign	Het
Hmcn2	A	T	2: 31,204,427 (GRCm39)	M1L	probably benign	Het
Kcnj15	G	A	16: 95,097,548 (GRCm39)		probably benign	Het
Krt27	A	G	11: 99,239,551 (GRCm39)	S310P	probably damaging	Het
Lama2	A	T	10: 26,862,816 (GRCm39)	D2982E	probably damaging	Het
Lrfn3	A	G	7: 30,059,451 (GRCm39)	V258A	probably benign	Het
Lrit3	A	T	3: 129,594,193 (GRCm39)	M128K	probably damaging	Het
Ltbp3	A	G	19: 5,797,512 (GRCm39)	T417A	probably benign	Het
Mettl25	T	C	10: 105,601,122 (GRCm39)	T554A	probably benign	Het
Micall1	A	G	15: 79,011,198 (GRCm39)	S523G	probably damaging	Het
Mmp21	G	A	7: 133,280,700 (GRCm39)	A90V	probably benign	Het
Mon2	T	C	10: 122,895,110 (GRCm39)	N53S	probably benign	Het
Muc15	T	C	2: 110,562,252 (GRCm39)		probably null	Het
Myo15b	A	T	11: 115,773,127 (GRCm39)	M431L	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Or3a1b	T	A	11: 74,012,874 (GRCm39)	M253K	probably benign	Het
Or52h1	A	G	7: 103,828,949 (GRCm39)	L222P	possibly damaging	Het
Pals1	T	A	12: 78,866,115 (GRCm39)	D313E	probably benign	Het
Pgrmc2	A	G	3: 41,037,125 (GRCm39)	L102P	probably damaging	Het
Plekha1	T	G	7: 130,502,241 (GRCm39)		probably benign	Het
Pramel23	T	C	4: 143,423,562 (GRCm39)	Y409C	probably damaging	Het
Prss59	A	T	6: 40,902,999 (GRCm39)	Y124*	probably null	Het
Ralgapa1	T	G	12: 55,749,345 (GRCm39)	I1233L	probably damaging	Het
Rb1cc1	T	A	1: 6,333,441 (GRCm39)	D68E	probably benign	Het
Rere	C	A	4: 150,699,331 (GRCm39)		probably benign	Het
Rnf213	A	T	11: 119,321,100 (GRCm39)	H1185L	possibly damaging	Het
Robo2	G	T	16: 73,770,150 (GRCm39)	P529T	probably damaging	Het
Robo2	G	A	16: 73,770,149 (GRCm39)	P529L	probably damaging	Het
Shprh	A	G	10: 11,061,181 (GRCm39)	T1165A	possibly damaging	Het
Slc22a26	C	T	19: 7,768,390 (GRCm39)		probably benign	Het
Slc43a1	T	C	2: 84,690,450 (GRCm39)	L456P	probably damaging	Het
Slc5a8	T	C	10: 88,740,885 (GRCm39)	Y267H	probably damaging	Het
Snrnp200	T	C	2: 127,068,902 (GRCm39)	I927T	probably benign	Het
Sorbs1	T	C	19: 40,362,006 (GRCm39)	D156G	probably benign	Het
Sox5	A	T	6: 143,853,169 (GRCm39)	S370T	probably benign	Het
Spen	T	C	4: 141,201,374 (GRCm39)	T2418A	probably damaging	Het
St8sia6	A	T	2: 13,701,705 (GRCm39)	L104H	probably damaging	Het
Stox1	T	A	10: 62,500,430 (GRCm39)	N710I	probably damaging	Het
Syncrip	T	C	9: 88,344,900 (GRCm39)		probably benign	Het
Syt11	G	A	3: 88,655,051 (GRCm39)	P417S	probably damaging	Het
Taf2	A	T	15: 54,910,849 (GRCm39)	N608K	probably benign	Het
Tfcp2l1	G	A	1: 118,596,447 (GRCm39)	G394E	possibly damaging	Het
Tial1	A	G	7: 128,056,715 (GRCm39)	I13T	probably damaging	Het
Tmem108	T	C	9: 103,361,981 (GRCm39)	D535G	probably benign	Het
Tpp1	T	C	7: 105,396,626 (GRCm39)	M464V	probably benign	Het
Trrap	C	A	5: 144,757,063 (GRCm39)	N2108K	probably damaging	Het
Tspan3	T	C	9: 56,053,883 (GRCm39)	D156G	probably benign	Het
Ttn	C	T	2: 76,592,607 (GRCm39)	V20842I	probably benign	Het
Ubr4	T	A	4: 139,190,886 (GRCm39)	W4078R	probably damaging	Het
Uts2r	G	A	11: 121,051,795 (GRCm39)	V220M	possibly damaging	Het
Vmn2r19	G	A	6: 123,293,283 (GRCm39)		probably null	Het
Vmn2r3	A	T	3: 64,166,673 (GRCm39)	F819L	probably damaging	Het
Wdtc1	T	C	4: 133,031,470 (GRCm39)	Y250C	probably damaging	Het
Zan	T	C	5: 137,393,888 (GRCm39)	H4521R	unknown	Het
Zfp219	A	T	14: 52,244,224 (GRCm39)	C652S	probably damaging	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
R1340:Nt5c3	UTSW	6	56,860,018 (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
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'- TAGATGCACTCTGTATCATGCCC -3'
(R):5'- ATAAACGCACTGTGCCTCCC -3'

Sequencing Primer
(F):5'- ATGTAGCCATCAGAGCTGC -3'
(R):5'- CCTCCACTTGCAGGGAAGGATATG -3'

Posted On

2021-08-31