Mutagenetix > Incidental Mutation

Incidental Mutation 'R7951:Nt5c1a'

649548

Institutional Source

Beutler Lab

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 #

R7951 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123095297-123110068 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123105978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 144 (F144S)

Ref Sequence

ENSEMBL: ENSMUSP00000069422 (fasta)

Gene Model

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

AlphaFold

A3KFX0

Predicted Effect

probably benign
Transcript: ENSMUST00000068262
AA Change: F144S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000069422
Gene: ENSMUSG00000054958
AA Change: F144S

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	G	A	17: 85,004,957 (GRCm39)	G575S	probably damaging	Het
Acacb	G	T	5: 114,326,401 (GRCm39)	A256S	probably damaging	Het
Adamts20	T	C	15: 94,238,947 (GRCm39)	D757G	probably damaging	Het
Adgra3	A	G	5: 50,121,126 (GRCm39)	V834A	probably damaging	Het
Adgrv1	A	G	13: 81,711,689 (GRCm39)	S1096P	probably damaging	Het
Bmal2	T	G	6: 146,714,732 (GRCm39)	L135R	probably damaging	Het
Cct4	T	C	11: 22,940,868 (GRCm39)	S39P	probably benign	Het
Cep97	T	C	16: 55,725,820 (GRCm39)	N689S	probably benign	Het
Col11a1	T	A	3: 113,888,864 (GRCm39)	D302E	unknown	Het
D5Ertd579e	C	T	5: 36,772,517 (GRCm39)	S626N	probably benign	Het
Dido1	A	T	2: 180,312,674 (GRCm39)	C1074S	probably benign	Het
Dnah17	C	T	11: 118,009,592 (GRCm39)	R660H	possibly damaging	Het
Dnhd1	A	T	7: 105,327,211 (GRCm39)	D720V	probably damaging	Het
Dst	T	C	1: 34,240,267 (GRCm39)	M1872T	probably benign	Het
Enpp2	T	C	15: 54,783,089 (GRCm39)	I13M	probably benign	Het
Fcho1	A	G	8: 72,164,920 (GRCm39)	F454L	probably benign	Het
Gad2	A	G	2: 22,513,499 (GRCm39)	K43R	probably damaging	Het
Galnt3	C	T	2: 65,928,186 (GRCm39)	E237K	probably benign	Het
Hey1	A	G	3: 8,729,932 (GRCm39)	L175P	possibly damaging	Het
Jade1	G	A	3: 41,546,190 (GRCm39)	V72M	probably damaging	Het
Klhl28	G	A	12: 65,003,875 (GRCm39)	R213W	probably damaging	Het
Kprp	C	T	3: 92,731,637 (GRCm39)	R471H	unknown	Het
Lmtk3	A	T	7: 45,435,030 (GRCm39)	M27L	probably benign	Het
Lrp1	A	T	10: 127,374,933 (GRCm39)	Y4508*	probably null	Het
Lypd5	T	C	7: 24,051,060 (GRCm39)	V57A	probably damaging	Het
Mapk9	T	G	11: 49,754,422 (GRCm39)	S58R	probably damaging	Het
Mycbp2	T	C	14: 103,452,898 (GRCm39)	K1661R	probably damaging	Het
Myl2	C	T	5: 122,244,750 (GRCm39)	A140V	probably benign	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nckap1l	T	C	15: 103,381,542 (GRCm39)	Y428H	probably damaging	Het
Ofcc1	C	T	13: 40,433,781 (GRCm39)	R108Q	probably benign	Het
Or4c100	A	T	2: 88,356,148 (GRCm39)	T74S	probably damaging	Het
Or5d14	A	T	2: 87,880,601 (GRCm39)	Y122*	probably null	Het
Or5d40	G	T	2: 88,015,616 (GRCm39)	V132F	probably damaging	Het
Pabpc4	T	G	4: 123,177,532 (GRCm39)	V42G	probably damaging	Het
Prrc2a	A	T	17: 35,379,477 (GRCm39)	N311K	unknown	Het
Rcbtb2	A	T	14: 73,403,992 (GRCm39)	R197*	probably null	Het
Rfc4	A	G	16: 22,934,135 (GRCm39)	I222T	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Rufy1	T	C	11: 50,321,736 (GRCm39)	D66G	probably benign	Het
Rxfp1	A	T	3: 79,559,682 (GRCm39)	C380S	probably damaging	Het
Scn5a	A	G	9: 119,358,145 (GRCm39)	C699R	probably damaging	Het
Syngap1	G	T	17: 27,185,942 (GRCm39)	A1291S	possibly damaging	Het
Tab1	C	A	15: 80,043,058 (GRCm39)	N417K	probably damaging	Het
Tenm3	A	G	8: 48,763,738 (GRCm39)	V772A	possibly damaging	Het
Tmem25	T	A	9: 44,706,790 (GRCm39)	K285I	probably damaging	Het
Tnks2	A	G	19: 36,839,555 (GRCm39)	N51D		Het
Trpm7	G	A	2: 126,655,188 (GRCm39)	T1250I	possibly damaging	Het
Trpv4	T	C	5: 114,760,871 (GRCm39)	D820G	probably benign	Het
Tsg101	T	A	7: 46,540,891 (GRCm39)	I289L	probably benign	Het
Tubgcp2	C	A	7: 139,587,893 (GRCm39)	R244L	possibly damaging	Het
Vmn1r173	C	A	7: 23,402,680 (GRCm39)	T305K	unknown	Het
Vmn1r53	A	T	6: 90,201,132 (GRCm39)	I64K	possibly damaging	Het
Zfp444	T	C	7: 6,191,185 (GRCm39)	V122A	probably benign	Het
Zfp599	A	G	9: 22,160,764 (GRCm39)	L467P	probably damaging	Het
Zic1	T	C	9: 91,244,654 (GRCm39)	E335G	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
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
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'- TATGATTCCCTGACTAGGTGGAG -3'
(R):5'- ACCAGTGGGACCCCTTTATG -3'

Sequencing Primer
(F):5'- AAGCTATGAGCCAGGCGTTTTC -3'
(R):5'- AGTGGGACCCCTTTATGTGTGG -3'

Posted On

2020-09-15