Mutagenetix > Incidental Mutation

Incidental Mutation 'R5690:Nt5c1a'

443619

Institutional Source

Beutler Lab

Gene Symbol

Nt5c1a

Ensembl Gene

ENSMUSG00000054958

Gene Name

5'-nucleotidase, cytosolic IA

Synonyms

Cn1a, LOC230718

MMRRC Submission

043323-MU

Accession Numbers

Essential gene?

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

Stock #

R5690 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123095297-123110068 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123109732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 277 (V277E)

Ref Sequence

ENSEMBL: ENSMUSP00000069422 (fasta)

Gene Model

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

AlphaFold

A3KFX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000068262
AA Change: V277E

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

SMART Domains

Protein: ENSMUSP00000069422
Gene: ENSMUSG00000054958
AA Change: V277E

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: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	A	G	10: 70,759,144 (GRCm39)		probably benign	Het
Acadl	T	C	1: 66,892,445 (GRCm39)	Y126C	probably damaging	Het
Ak6	A	G	13: 100,792,129 (GRCm39)		probably null	Het
Ap1s1	ATCCTCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTC	5: 137,066,233 (GRCm39)		probably benign	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Atp6v1e1	A	T	6: 120,785,317 (GRCm39)		probably null	Het
Axin1	A	G	17: 26,413,911 (GRCm39)	Y792C	probably damaging	Het
C1s2	T	C	6: 124,607,996 (GRCm39)	N233S	probably benign	Het
Ccer2	C	A	7: 28,455,629 (GRCm39)		probably benign	Het
Cfap46	A	G	7: 139,218,269 (GRCm39)	S1481P	probably benign	Het
Cspg4	A	T	9: 56,806,019 (GRCm39)	T2277S	probably benign	Het
Ctsl	T	A	13: 64,513,022 (GRCm39)	N300I	probably damaging	Het
Dnah2	T	C	11: 69,382,370 (GRCm39)	I1247V	probably benign	Het
Dsg3	A	T	18: 20,655,108 (GRCm39)	Q135L	probably benign	Het
Efcab14	G	A	4: 115,617,244 (GRCm39)	V318M	possibly damaging	Het
Etl4	G	A	2: 20,810,647 (GRCm39)	S910N	probably benign	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Frmd4b	T	C	6: 97,330,164 (GRCm39)	E133G	possibly damaging	Het
Herc2	T	C	7: 55,807,453 (GRCm39)	F2514S	probably benign	Het
Il18rap	A	G	1: 40,576,272 (GRCm39)	D261G	possibly damaging	Het
Klk1b16	A	G	7: 43,790,318 (GRCm39)		probably null	Het
Lrp1b	A	C	2: 40,640,906 (GRCm39)		probably null	Het
Mrpl45	C	A	11: 97,212,412 (GRCm39)		probably benign	Het
Myh13	A	G	11: 67,220,101 (GRCm39)	E150G	probably damaging	Het
Nbas	T	A	12: 13,386,285 (GRCm39)	V737D	probably damaging	Het
Ncr1	T	C	7: 4,341,296 (GRCm39)	Y59H	probably damaging	Het
Ogfod1	T	A	8: 94,784,769 (GRCm39)	S343T	probably damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Pnpla1	A	T	17: 29,097,346 (GRCm39)	I171F	probably damaging	Het
Rab5if	G	A	2: 156,707,234 (GRCm39)	V58I	probably benign	Het
Rdh8	A	G	9: 20,736,785 (GRCm39)	N259S	probably damaging	Het
Resf1	T	C	6: 149,229,735 (GRCm39)	L927S	possibly damaging	Het
Slc22a12	A	G	19: 6,586,878 (GRCm39)	M496T	probably benign	Het
Slc8b1	G	A	5: 120,651,270 (GRCm39)	W10*	probably null	Het
Smarcc2	G	A	10: 128,320,276 (GRCm39)	G887S	probably damaging	Het
Smc1b	A	G	15: 84,996,974 (GRCm39)	S549P	probably damaging	Het
Synj2	A	G	17: 6,085,802 (GRCm39)	M1181V	probably benign	Het
Tbx15	T	C	3: 99,216,166 (GRCm39)	S76P	probably damaging	Het
Tbx2	A	T	11: 85,727,879 (GRCm39)	I271F	probably damaging	Het
Thap4	A	G	1: 93,644,352 (GRCm39)		probably null	Het
Tmc2	A	G	2: 130,074,306 (GRCm39)	Y333C	probably damaging	Het
Trcg1	C	T	9: 57,149,094 (GRCm39)	P222L	probably benign	Het
Tubb3	T	C	8: 124,148,045 (GRCm39)	V326A	probably benign	Het
Unc80	A	C	1: 66,679,731 (GRCm39)	I2101L	probably benign	Het
Vmn1r19	T	C	6: 57,381,780 (GRCm39)	L111S	probably benign	Het
Vps16	C	T	2: 130,281,011 (GRCm39)	Q226*	probably null	Het
Xpo4	T	C	14: 57,828,446 (GRCm39)	I805V	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
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
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'- CAATCACAGAGGCTTTAGGATGAC -3'
(R):5'- ACACCATAAGGCACATGGGC -3'

Sequencing Primer
(F):5'- AGGCTTTAGGATGACGGGGG -3'
(R):5'- ACCGTGCCCATCTCCTGAG -3'

Posted On

2016-11-09