Mutagenetix > Incidental Mutation

Incidental Mutation 'R4433:Nt5c1a'

328690

Institutional Source

Beutler Lab

Gene Symbol

Nt5c1a

Ensembl Gene

ENSMUSG00000054958

Gene Name

5'-nucleotidase, cytosolic IA

Synonyms

Cn1a, LOC230718

MMRRC Submission

041147-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R4433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123095297-123110068 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123109689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 263 (S263T)

Ref Sequence

ENSEMBL: ENSMUSP00000069422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068262]

AlphaFold

A3KFX0

Predicted Effect

probably benign
Transcript: ENSMUST00000068262
AA Change: S263T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000069422
Gene: ENSMUSG00000054958
AA Change: S263T

Domain	Start	End	E-Value	Type
low complexity region	35	45	N/A	INTRINSIC
Pfam:5-nucleotidase	78	350	3.5e-109	PFAM

Meta Mutation Damage Score

0.0701

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,186,937 (GRCm39)		probably null	Het
Acsm2	A	G	7: 119,153,732 (GRCm39)	H14R	unknown	Het
Adamtsl4	T	C	3: 95,589,069 (GRCm39)		probably null	Het
Ak5	A	G	3: 152,361,517 (GRCm39)	I135T	probably damaging	Het
Alk	G	T	17: 72,206,236 (GRCm39)	S1038*	probably null	Het
Ank2	A	T	3: 126,741,455 (GRCm39)		probably benign	Het
Ap2m1	A	T	16: 20,362,134 (GRCm39)	H414L	possibly damaging	Het
Atp13a5	A	T	16: 29,100,842 (GRCm39)	M649K	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Calhm6	T	A	10: 34,003,827 (GRCm39)	T27S	probably damaging	Het
Cdc25b	A	G	2: 131,033,618 (GRCm39)	S186G	probably benign	Het
Ceacam16	A	G	7: 19,587,514 (GRCm39)	V418A	possibly damaging	Het
Cntnap3	A	C	13: 64,926,667 (GRCm39)	S568A	possibly damaging	Het
Col24a1	G	T	3: 145,020,144 (GRCm39)	V172F	possibly damaging	Het
Dynlt4	C	T	4: 116,985,320 (GRCm39)	R48C	probably damaging	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Esp36	T	A	17: 38,729,847 (GRCm39)	T15S	unknown	Het
Fat2	A	T	11: 55,200,466 (GRCm39)	H869Q	possibly damaging	Het
Fat3	A	G	9: 15,942,448 (GRCm39)	V1308A	probably damaging	Het
Gimap3	T	C	6: 48,742,880 (GRCm39)	T17A	possibly damaging	Het
Hnrnpr	A	G	4: 136,044,459 (GRCm39)	K13R	probably benign	Het
Hycc1	A	C	5: 24,184,579 (GRCm39)	C218G	possibly damaging	Het
Kdr	A	G	5: 76,104,585 (GRCm39)	M1133T	possibly damaging	Het
Mgarp	A	G	3: 51,303,681 (GRCm39)		probably benign	Het
Neto2	G	A	8: 86,367,712 (GRCm39)	T337I	probably damaging	Het
Nfib	C	T	4: 82,416,672 (GRCm39)	R137Q	probably damaging	Het
Nherf4	T	C	9: 44,159,285 (GRCm39)	*499W	probably null	Het
Nr3c2	A	G	8: 77,944,096 (GRCm39)	E890G	probably damaging	Het
Nsun4	A	G	4: 115,897,327 (GRCm39)	V228A	possibly damaging	Het
Ntm	A	T	9: 28,923,516 (GRCm39)	Y45*	probably null	Het
Nts	A	G	10: 102,320,888 (GRCm39)	V67A	probably benign	Het
Or1e19	A	T	11: 73,316,537 (GRCm39)	S91T	possibly damaging	Het
Or1e25	A	G	11: 73,493,712 (GRCm39)	Y102C	probably damaging	Het
Or4g7	T	A	2: 111,309,757 (GRCm39)	C209*	probably null	Het
Or51ag1	T	A	7: 103,155,346 (GRCm39)	K269M	probably benign	Het
Ostm1	C	A	10: 42,555,119 (GRCm39)	A47E	probably benign	Het
Otol1	G	A	3: 69,925,881 (GRCm39)	V19M	probably benign	Het
Pcdhb15	A	G	18: 37,608,565 (GRCm39)	N599S	probably damaging	Het
Pcdhgb1	T	C	18: 37,814,304 (GRCm39)	I265T	probably damaging	Het
Pex14	T	C	4: 149,045,967 (GRCm39)	E321G	possibly damaging	Het
Phactr3	C	A	2: 177,924,925 (GRCm39)	R251S	probably damaging	Het
Pkdcc	C	T	17: 83,528,570 (GRCm39)	T313M	probably benign	Het
Plce1	A	T	19: 38,755,745 (GRCm39)	E1911V	probably damaging	Het
Ptprv	G	T	1: 135,042,308 (GRCm39)		noncoding transcript	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rhob	A	G	12: 8,549,533 (GRCm39)	Y34H	possibly damaging	Het
Slc27a3	G	A	3: 90,294,647 (GRCm39)	T408M	probably damaging	Het
Slc9c1	A	T	16: 45,419,829 (GRCm39)	I1000F	possibly damaging	Het
Tcf7	G	T	11: 52,152,442 (GRCm39)	P36T	probably benign	Het
Tcf7l1	C	G	6: 72,765,752 (GRCm39)	E62Q	probably damaging	Het
Tll2	A	G	19: 41,109,787 (GRCm39)	S326P	probably benign	Het
Tubgcp4	A	G	2: 121,014,954 (GRCm39)	N288S	probably benign	Het
Zfhx3	G	A	8: 109,682,269 (GRCm39)	R3236H	unknown	Het
Zfp764l1	T	G	7: 126,992,174 (GRCm39)	Q87P	possibly damaging	Het
Zgrf1	A	G	3: 127,355,727 (GRCm39)	T318A	probably benign	Het

Other mutations in Nt5c1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01444:Nt5c1a	APN	4	123,109,962 (GRCm39)	missense	probably damaging	1.00
IGL02035:Nt5c1a	APN	4	123,107,895 (GRCm39)	missense	possibly damaging	0.93
IGL02437:Nt5c1a	APN	4	123,108,034 (GRCm39)	missense	probably benign	0.25
IGL02877:Nt5c1a	APN	4	123,109,867 (GRCm39)	missense	probably damaging	1.00
R1628:Nt5c1a	UTSW	4	123,102,284 (GRCm39)	missense	possibly damaging	0.65
R2273:Nt5c1a	UTSW	4	123,109,873 (GRCm39)	missense	probably damaging	1.00
R2275:Nt5c1a	UTSW	4	123,109,873 (GRCm39)	missense	probably damaging	1.00
R4826:Nt5c1a	UTSW	4	123,102,365 (GRCm39)	missense	probably damaging	1.00
R5328:Nt5c1a	UTSW	4	123,102,786 (GRCm39)	missense	possibly damaging	0.90
R5690:Nt5c1a	UTSW	4	123,109,732 (GRCm39)	missense	probably damaging	1.00
R5883:Nt5c1a	UTSW	4	123,110,049 (GRCm39)	splice site	probably null
R7162:Nt5c1a	UTSW	4	123,107,898 (GRCm39)	missense	probably benign
R7390:Nt5c1a	UTSW	4	123,102,272 (GRCm39)	missense	probably benign	0.01
R7823:Nt5c1a	UTSW	4	123,102,365 (GRCm39)	missense	probably damaging	1.00
R7951:Nt5c1a	UTSW	4	123,105,978 (GRCm39)	missense	probably benign	0.02
R8121:Nt5c1a	UTSW	4	123,102,235 (GRCm39)	missense	probably damaging	1.00
R8265:Nt5c1a	UTSW	4	123,107,953 (GRCm39)	missense	possibly damaging	0.90
R8927:Nt5c1a	UTSW	4	123,102,281 (GRCm39)	missense	possibly damaging	0.51
R8928:Nt5c1a	UTSW	4	123,102,281 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- TGTATGCACACAGGAGCTAGAAC -3'
(R):5'- GAAGATGTGTGGACGGATCTTC -3'

Sequencing Primer
(F):5'- CTACCAAAGGATTTAGGGATTTCC -3'
(R):5'- AGATGTGTGGACGGATCTTCTCAAG -3'

Posted On

2015-07-21