Mutagenetix > Incidental Mutation

Incidental Mutation 'R2275:Nt5c1a'

242714

Institutional Source

Beutler Lab

Gene Symbol

Nt5c1a

Ensembl Gene

ENSMUSG00000054958

Gene Name

5'-nucleotidase, cytosolic IA

Synonyms

Cn1a, LOC230718

MMRRC Submission

040274-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R2275 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123095297-123110068 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123109873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 324 (F324S)

Ref Sequence

ENSEMBL: ENSMUSP00000069422 (fasta)

Gene Model

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

AlphaFold

A3KFX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000068262
AA Change: F324S

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

SMART Domains

Protein: ENSMUSP00000069422
Gene: ENSMUSG00000054958
AA Change: F324S

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,667 (GRCm39)	C59S	possibly damaging	Het
Abca5	A	T	11: 110,166,107 (GRCm39)	N1556K	possibly damaging	Het
Ackr1	T	C	1: 173,160,052 (GRCm39)	N156D	probably benign	Het
Aco2	C	T	15: 81,779,465 (GRCm39)	R57C	probably benign	Het
Adamtsl3	A	T	7: 82,255,766 (GRCm39)	S1593C	probably benign	Het
Adgrb2	G	A	4: 129,900,647 (GRCm39)	G333D	probably damaging	Het
Arhgef7	T	A	8: 11,865,010 (GRCm39)	F374Y	possibly damaging	Het
Atxn7	T	A	14: 14,013,268 (GRCm38)	M62K	possibly damaging	Het
C87436	G	A	6: 86,422,582 (GRCm39)	R52H	probably damaging	Het
Cacna1g	T	A	11: 94,306,762 (GRCm39)	E1842V	probably damaging	Het
Cdh4	T	C	2: 179,532,640 (GRCm39)	S701P	probably damaging	Het
Cdr2	A	T	7: 120,557,732 (GRCm39)	H264Q	possibly damaging	Het
Cecr2	C	T	6: 120,733,702 (GRCm39)	S563L	probably benign	Het
Cfap276	A	G	3: 108,449,819 (GRCm39)	N33D	possibly damaging	Het
Col12a1	A	T	9: 79,542,709 (GRCm39)	V2352E	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Csad	G	T	15: 102,095,557 (GRCm39)	R167S	probably damaging	Het
Dnlz	A	T	2: 26,241,483 (GRCm39)	C82S	probably damaging	Het
Ehmt2	T	A	17: 35,129,691 (GRCm39)	N951K	possibly damaging	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Enpp2	A	C	15: 54,761,190 (GRCm39)	Y221D	probably damaging	Het
Exoc3l	A	T	8: 106,017,079 (GRCm39)		probably null	Het
F11	T	C	8: 45,705,184 (GRCm39)	D119G	possibly damaging	Het
Faiml	T	C	9: 99,111,612 (GRCm39)	Y149C	probably benign	Het
Fn1	C	T	1: 71,653,102 (GRCm39)	G1296R	probably null	Het
Glg1	A	T	8: 111,895,353 (GRCm39)	Y819*	probably null	Het
Gm11568	A	G	11: 99,749,070 (GRCm39)	S92G	unknown	Het
Gm28042	A	C	2: 119,867,310 (GRCm39)	Q465P	probably damaging	Het
Gpatch1	A	T	7: 34,988,103 (GRCm39)	S678T	probably benign	Het
Gpr158	A	T	2: 21,831,674 (GRCm39)	M925L	probably benign	Het
Hecw1	T	C	13: 14,520,653 (GRCm39)	T195A	probably benign	Het
Hoxd1	A	G	2: 74,594,501 (GRCm39)	K252R	probably damaging	Het
Iqck	G	A	7: 118,498,880 (GRCm39)	D173N	possibly damaging	Het
Kcnh1	T	G	1: 192,019,829 (GRCm39)	V358G	probably damaging	Het
Kifap3	T	A	1: 163,696,327 (GRCm39)	V652D	possibly damaging	Het
Knl1	C	A	2: 118,902,762 (GRCm39)	Q1488K	probably damaging	Het
Map4k1	T	A	7: 28,701,382 (GRCm39)	H729Q	probably damaging	Het
Marchf1	T	A	8: 66,840,151 (GRCm39)	N311K	probably benign	Het
Mypn	A	G	10: 62,966,848 (GRCm39)	F943L	probably damaging	Het
Nkpd1	A	G	7: 19,257,822 (GRCm39)	I534V	probably benign	Het
Nrarp	T	C	2: 25,071,421 (GRCm39)	V100A	possibly damaging	Het
Ntrk2	T	A	13: 59,009,165 (GRCm39)	Y319N	probably damaging	Het
Odad2	C	A	18: 7,223,676 (GRCm39)	G456W	probably benign	Het
Or5d41	A	G	2: 88,055,167 (GRCm39)	F70L	probably benign	Het
Parg	A	G	14: 32,017,195 (GRCm39)	D384G	probably damaging	Het
Pde7b	T	A	10: 20,276,165 (GRCm39)	*460L	probably null	Het
Pigr	G	T	1: 130,774,207 (GRCm39)	V396L	probably benign	Het
Pkhd1	A	G	1: 20,271,073 (GRCm39)	I3160T	possibly damaging	Het
Ppl	T	C	16: 4,912,416 (GRCm39)	S722G	probably benign	Het
Ppp1r26	A	G	2: 28,342,713 (GRCm39)	E781G	possibly damaging	Het
Rptor	T	A	11: 119,647,148 (GRCm39)	C246*	probably null	Het
Rusc2	G	A	4: 43,416,260 (GRCm39)	R522H	probably damaging	Het
Senp7	T	C	16: 56,005,146 (GRCm39)	S927P	probably damaging	Het
Serpinb6d	A	T	13: 33,855,411 (GRCm39)	M362L	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc12a3	T	A	8: 95,059,915 (GRCm39)	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,357,249 (GRCm39)	S101A	probably benign	Het
Slc4a8	A	G	15: 100,705,283 (GRCm39)	M830V	probably benign	Het
Slco4a1	T	C	2: 180,106,529 (GRCm39)	L237P	possibly damaging	Het
Sned1	T	A	1: 93,209,364 (GRCm39)		probably null	Het
Tia1	A	G	6: 86,404,659 (GRCm39)	N298S	probably benign	Het
Tsr1	A	T	11: 74,795,653 (GRCm39)		probably null	Het
Ttc6	G	A	12: 57,749,084 (GRCm39)	V1339I	probably benign	Het
Tyrp1	A	T	4: 80,755,771 (GRCm39)	E180V	probably damaging	Het
Ubr3	T	C	2: 69,846,685 (GRCm39)	V1636A	probably benign	Het
Usp1	T	C	4: 98,818,079 (GRCm39)	L139P	probably damaging	Het
Vmn1r228	A	G	17: 20,996,807 (GRCm39)	L237P	probably damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Vmn2r2	T	C	3: 64,023,930 (GRCm39)	R884G	probably benign	Het
Vmn2r60	T	A	7: 41,786,251 (GRCm39)	Y351*	probably null	Het
Zbtb7a	G	A	10: 80,980,831 (GRCm39)	V342I	possibly damaging	Het
Zdhhc11	C	A	13: 74,121,871 (GRCm39)	N127K	probably damaging	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
R4433:Nt5c1a	UTSW	4	123,109,689 (GRCm39)	missense	probably benign	0.01
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'- TTCCTGGAAGCACTGGGTAG -3'
(R):5'- AGTTCACCAGATGAAGTTCAGAAAG -3'

Sequencing Primer
(F):5'- GAAATTCTACTCCAAGGGCCTG -3'
(R):5'- CCAGATGAAGTTCAGAAAGTGTGAC -3'

Posted On

2014-10-16