Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01444:Nt5c1a'

84357

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nt5c1a

Ensembl Gene

ENSMUSG00000054958

Gene Name

5'-nucleotidase, cytosolic IA

Synonyms

Cn1a, LOC230718

Accession Numbers

Essential gene?

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

Stock #

IGL01444

Quality Score

Status

Chromosome

Chromosomal Location

123095297-123110068 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123109962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 354 (R354W)

Ref Sequence

ENSEMBL: ENSMUSP00000069422 (fasta)

Gene Model

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

AlphaFold

A3KFX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000068262
AA Change: R354W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000069422
Gene: ENSMUSG00000054958
AA Change: R354W

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	A	T	3: 37,146,183 (GRCm39)	N517I	probably damaging	Het
Adam25	G	A	8: 41,207,958 (GRCm39)	R408H	probably benign	Het
Adam34l	A	T	8: 44,079,470 (GRCm39)	D251E	probably benign	Het
Ang	C	A	14: 51,339,124 (GRCm39)	Y88*	probably null	Het
Ankrd42	T	C	7: 92,259,793 (GRCm39)	T327A	probably damaging	Het
Birc6	A	G	17: 74,938,682 (GRCm39)	D2696G	probably damaging	Het
Chd3	G	A	11: 69,239,568 (GRCm39)	T1717M	probably benign	Het
Csmd1	T	A	8: 16,250,069 (GRCm39)	M970L	probably benign	Het
Dhx32	T	C	7: 133,350,706 (GRCm39)	I121M	possibly damaging	Het
Dnah11	G	A	12: 117,983,967 (GRCm39)	S2506F	possibly damaging	Het
Dscam	T	A	16: 96,474,909 (GRCm39)	I1218F	possibly damaging	Het
Duox1	T	C	2: 122,170,571 (GRCm39)	L1197P	probably damaging	Het
Eps8l2	T	C	7: 140,941,288 (GRCm39)		probably benign	Het
Exoc3	T	C	13: 74,355,054 (GRCm39)	K49R	probably damaging	Het
Exoc8	T	A	8: 125,622,580 (GRCm39)	T596S	possibly damaging	Het
F13a1	C	T	13: 37,102,551 (GRCm39)	G391R	probably null	Het
Fat3	A	T	9: 15,910,144 (GRCm39)	S1953T	probably damaging	Het
Gls2	C	A	10: 128,037,216 (GRCm39)	N252K	probably damaging	Het
Haus2	G	A	2: 120,446,423 (GRCm39)	R115K	probably benign	Het
Ift122	A	G	6: 115,861,340 (GRCm39)	K262E	probably benign	Het
Islr2	C	T	9: 58,105,661 (GRCm39)	C533Y	probably damaging	Het
Lrp2	A	T	2: 69,274,060 (GRCm39)	F3997I	possibly damaging	Het
Or6c206	T	A	10: 129,097,204 (GRCm39)	C125S	probably damaging	Het
Pcolce	A	T	5: 137,605,738 (GRCm39)	S200R	probably damaging	Het
Plec	A	G	15: 76,063,497 (GRCm39)	V2213A	possibly damaging	Het
Prmt3	T	A	7: 49,430,120 (GRCm39)	D74E	probably benign	Het
Ptk7	A	G	17: 46,876,313 (GRCm39)	F1046S	probably damaging	Het
Ranbp2	T	C	10: 58,311,122 (GRCm39)	Y887H	possibly damaging	Het
Sanbr	T	G	11: 23,570,225 (GRCm39)		probably benign	Het
Sez6l2	G	A	7: 126,561,055 (GRCm39)	E447K	possibly damaging	Het
Shld2	C	A	14: 33,959,514 (GRCm39)	V823F	probably damaging	Het
Snrnp70	C	T	7: 45,036,660 (GRCm39)		probably null	Het
Timm10	T	A	2: 84,660,208 (GRCm39)	V49E	probably damaging	Het
Tox2	T	C	2: 163,067,386 (GRCm39)		probably benign	Het
Usp20	T	A	2: 30,888,801 (GRCm39)	M1K	probably null	Het
Usp32	A	C	11: 84,949,990 (GRCm39)	L223V	probably damaging	Het
Zeb1	G	T	18: 5,767,906 (GRCm39)	A806S	probably damaging	Het
Zeb1	T	C	18: 5,767,138 (GRCm39)	S550P	probably benign	Het

Other mutations in Nt5c1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-11-11