Mutagenetix > Incidental Mutation

Incidental Mutation 'R1628:Nt5c1a'

172596

Institutional Source

Beutler Lab

Gene Symbol

Nt5c1a

Ensembl Gene

ENSMUSG00000054958

Gene Name

5'-nucleotidase, cytosolic IA

Synonyms

Cn1a, LOC230718

MMRRC Submission

039665-MU

Accession Numbers

Essential gene?

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

Stock #

R1628 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123095297-123110068 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123102284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 70 (E70G)

Ref Sequence

ENSEMBL: ENSMUSP00000069422 (fasta)

Gene Model

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

AlphaFold

A3KFX0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068262
AA Change: E70G

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000069422
Gene: ENSMUSG00000054958
AA Change: E70G

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

0.1514

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.7%

Validation Efficiency

99% (75/76)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	C	T	17: 84,999,419 (GRCm39)	Q172*	probably null	Het
AI467606	G	A	7: 126,691,755 (GRCm39)	G110D	probably benign	Het
Arhgef15	A	C	11: 68,835,640 (GRCm39)	L805R	possibly damaging	Het
B3galnt1	G	A	3: 69,482,961 (GRCm39)	T100I	probably damaging	Het
Bod1l	T	A	5: 41,974,325 (GRCm39)	M2330L	probably benign	Het
Calcr	A	T	6: 3,700,251 (GRCm39)	H280Q	possibly damaging	Het
Camk1d	T	C	2: 5,315,848 (GRCm39)	D263G	probably damaging	Het
Cd48	T	A	1: 171,532,420 (GRCm39)	I233N	probably damaging	Het
Cyp3a25	A	T	5: 145,938,273 (GRCm39)	Y68*	probably null	Het
Dapk3	C	A	10: 81,027,643 (GRCm39)	T227K	possibly damaging	Het
Dnajc22	A	G	15: 98,998,817 (GRCm39)	M1V	probably null	Het
Etv5	C	T	16: 22,220,421 (GRCm39)		probably null	Het
Gabrr1	A	G	4: 33,152,432 (GRCm39)	Y124C	probably damaging	Het
Gba2	C	T	4: 43,570,118 (GRCm39)	R392Q	probably benign	Het
Gli3	C	G	13: 15,900,897 (GRCm39)	A1428G	probably benign	Het
Gls	G	A	1: 52,271,835 (GRCm39)	A106V	probably benign	Het
Gm21370	A	G	13: 120,488,414 (GRCm39)	V45A	possibly damaging	Het
Gpr4	A	G	7: 18,957,124 (GRCm39)	T349A	probably benign	Het
Gpr6	C	T	10: 40,947,544 (GRCm39)	V13M	possibly damaging	Het
Gvin3	A	T	7: 106,202,476 (GRCm39)	L256*	probably null	Het
Hectd3	A	G	4: 116,854,589 (GRCm39)	H345R	probably damaging	Het
Igfl3	A	T	7: 17,914,232 (GRCm39)	K135N	probably benign	Het
Il23r	A	G	6: 67,400,593 (GRCm39)	L579S	probably damaging	Het
Itsn2	A	C	12: 4,679,652 (GRCm39)	M154L	probably benign	Het
Junb	T	A	8: 85,705,039 (GRCm39)	Q7L	possibly damaging	Het
Kif21b	T	A	1: 136,098,958 (GRCm39)	H1415Q	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhdc10	T	G	6: 30,444,461 (GRCm39)	F79L	probably damaging	Het
Klk1b8	A	G	7: 43,603,565 (GRCm39)		probably null	Het
Lmbrd2	T	A	15: 9,182,593 (GRCm39)	N509K	probably damaging	Het
Mctp2	A	G	7: 71,861,337 (GRCm39)		probably null	Het
Myo3b	A	G	2: 70,117,306 (GRCm39)	N913S	probably benign	Het
N4bp2	G	A	5: 65,960,915 (GRCm39)		probably null	Het
Or12k5	A	G	2: 36,894,738 (GRCm39)	V296A	probably damaging	Het
Papln	A	G	12: 83,831,180 (GRCm39)		probably benign	Het
Pcnx3	G	T	19: 5,736,093 (GRCm39)	S244R	probably damaging	Het
Pecam1	A	T	11: 106,573,786 (GRCm39)		probably null	Het
Plppr4	A	T	3: 117,121,921 (GRCm39)	L219Q	probably damaging	Het
Ppp2r5b	A	G	19: 6,280,935 (GRCm39)		probably null	Het
Ralgapb	A	G	2: 158,272,383 (GRCm39)	R146G	probably benign	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rfpl4b	T	G	10: 38,697,530 (GRCm39)	I24L	probably benign	Het
Serpinb1b	G	A	13: 33,277,637 (GRCm39)	C290Y	probably benign	Het
Skic3	A	G	13: 76,259,910 (GRCm39)	E70G	possibly damaging	Het
Slc25a17	A	G	15: 81,244,925 (GRCm39)	S3P	possibly damaging	Het
Slc4a11	A	C	2: 130,529,047 (GRCm39)		probably null	Het
Spata31e4	T	C	13: 50,856,324 (GRCm39)	L654P	probably benign	Het
Sptb	A	G	12: 76,630,622 (GRCm39)	Y2231H	probably damaging	Het
Srgap1	T	G	10: 121,706,244 (GRCm39)	M221L	probably benign	Het
Srgap3	A	G	6: 112,716,331 (GRCm39)	L599P	probably damaging	Het
Svep1	C	T	4: 58,107,561 (GRCm39)	V1177M	probably benign	Het
Tarbp1	A	G	8: 127,157,599 (GRCm39)	F1303L	possibly damaging	Het
Tbxa2r	T	C	10: 81,170,341 (GRCm39)	S276P	possibly damaging	Het
Try10	A	T	6: 41,334,390 (GRCm39)	D194V	probably damaging	Het
Ttc39c	T	C	18: 12,867,936 (GRCm39)		probably benign	Het
Ttc8	G	A	12: 98,948,780 (GRCm39)	V489M	probably benign	Het
Unc13b	G	T	4: 43,263,371 (GRCm39)	R1912L	probably damaging	Het
Unc45b	T	A	11: 82,820,206 (GRCm39)		probably null	Het
Usp17lb	T	C	7: 104,490,048 (GRCm39)	Y292C	probably damaging	Het
Usp34	A	G	11: 23,438,725 (GRCm39)	D3429G	probably damaging	Het
Usp42	A	G	5: 143,703,122 (GRCm39)	S500P	probably damaging	Het
Vmn2r14	T	C	5: 109,367,838 (GRCm39)	M385V	probably benign	Het
Vmn2r60	G	A	7: 41,785,830 (GRCm39)	W211*	probably null	Het
Vwf	A	T	6: 125,624,701 (GRCm39)		probably benign	Het
Wdfy4	A	T	14: 32,681,918 (GRCm39)	F3018I	probably damaging	Het
Wwox	A	G	8: 115,174,973 (GRCm39)	T102A	probably benign	Het
Zfp142	A	C	1: 74,611,047 (GRCm39)	L813R	possibly damaging	Het
Zfp407	G	A	18: 84,372,658 (GRCm39)	T1670M	probably damaging	Het
Zfp93	A	G	7: 23,974,282 (GRCm39)	E89G	probably benign	Het
Zwint	C	T	10: 72,492,127 (GRCm39)	Q18*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TGCAGCTCTTCTCTCATAATGGAAACC -3'
(R):5'- TGTTCACTACTCGGTGGCACCTTG -3'

Sequencing Primer
(F):5'- TGGAAACCATTTGGGAGTCATC -3'
(R):5'- TACTCGGTGGCACCTTGTTAAAG -3'

Posted On

2014-04-24