Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01318:Nt5dc3'

73950

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nt5dc3

Ensembl Gene

ENSMUSG00000054027

Gene Name

5'-nucleotidase domain containing 3

Synonyms

Gnn, C630002B14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01318

Quality Score

Status

Chromosome

Chromosomal Location

86614869-86674253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86661089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 418 (M418K)

Ref Sequence

ENSEMBL: ENSMUSP00000096994 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099396]

AlphaFold

Q3UHB1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099396
AA Change: M418K

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096994
Gene: ENSMUSG00000054027
AA Change: M418K

Domain	Start	End	E-Value	Type
low complexity region	5	25	N/A	INTRINSIC
Pfam:5_nucleotid	83	526	1.8e-159	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218792

Predicted Effect

unknown
Transcript: ENSMUST00000218802
AA Change: M359K

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg10b	T	C	15: 90,112,592 (GRCm39)		probably benign	Het
Ambn	T	C	5: 88,608,554 (GRCm39)		probably benign	Het
Asap2	A	G	12: 21,297,296 (GRCm39)	D585G	probably null	Het
Chaf1a	G	T	17: 56,366,336 (GRCm39)		probably benign	Het
Ddhd1	A	G	14: 45,854,008 (GRCm39)	S443P	probably damaging	Het
Dlk2	A	G	17: 46,613,390 (GRCm39)	E215G	probably damaging	Het
Efhd2	T	C	4: 141,587,176 (GRCm39)	N202S	probably benign	Het
Gkap1	A	T	13: 58,384,853 (GRCm39)	I308K	probably damaging	Het
Gm9848	T	A	13: 113,244,774 (GRCm39)		noncoding transcript	Het
Hmcn1	G	A	1: 150,594,991 (GRCm39)	T1826I	probably damaging	Het
Htr5a	T	C	5: 28,047,742 (GRCm39)	V99A	probably benign	Het
Inha	T	G	1: 75,486,572 (GRCm39)	F289C	probably damaging	Het
Kcna3	T	C	3: 106,945,294 (GRCm39)	V519A	probably benign	Het
Kcnma1	A	T	14: 23,364,390 (GRCm39)		probably benign	Het
Kctd1	A	G	18: 15,195,747 (GRCm39)	V292A	possibly damaging	Het
Magea13	T	A	X: 57,964,829 (GRCm39)	I196N	probably damaging	Het
Map2k4	A	G	11: 65,647,089 (GRCm39)		probably benign	Het
Mfap2	G	T	4: 140,742,856 (GRCm39)	A175S	possibly damaging	Het
Milr1	G	A	11: 106,656,071 (GRCm39)	A114T	possibly damaging	Het
Mogs	G	T	6: 83,095,558 (GRCm39)	V792F	probably damaging	Het
Or5b12	A	G	19: 12,897,490 (GRCm39)	L61P	probably damaging	Het
Or7d10	A	G	9: 19,832,054 (GRCm39)	E183G	probably benign	Het
Or8h8	A	T	2: 86,753,293 (GRCm39)	N194K	probably benign	Het
Osbpl10	G	A	9: 115,061,190 (GRCm39)	W756*	probably null	Het
Pgam5	A	G	5: 110,413,391 (GRCm39)	Y235H	probably damaging	Het
Pgm5	G	T	19: 24,793,842 (GRCm39)	A274E	probably damaging	Het
Prex1	C	A	2: 166,411,260 (GRCm39)		probably benign	Het
Prps1l1	A	T	12: 35,035,377 (GRCm39)	N164I	probably benign	Het
Ralbp1	C	A	17: 66,171,277 (GRCm39)	R232L	probably damaging	Het
Rnaseh2a	C	T	8: 85,691,752 (GRCm39)		probably benign	Het
Stard9	A	T	2: 120,529,200 (GRCm39)	H1819L	possibly damaging	Het
Stom	T	A	2: 35,226,889 (GRCm39)	I15F	probably benign	Het
Tasor2	A	C	13: 3,625,067 (GRCm39)	S946A	possibly damaging	Het
Tph1	T	G	7: 46,314,662 (GRCm39)	T22P	probably damaging	Het
Uqcrfs1	A	G	13: 30,724,904 (GRCm39)	I212T	probably benign	Het
Ush2a	T	C	1: 188,546,550 (GRCm39)	I3442T	probably benign	Het
Vinac1	C	A	2: 128,880,622 (GRCm39)	V435L	probably benign	Het
Vmn2r113	A	G	17: 23,177,309 (GRCm39)	I698V	probably benign	Het
Vmn2r75	T	C	7: 85,814,774 (GRCm39)	I240V	probably benign	Het
Wdr17	T	C	8: 55,125,585 (GRCm39)	T432A	probably damaging	Het

Other mutations in Nt5dc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Nt5dc3	APN	10	86,669,838 (GRCm39)	splice site	probably null
IGL00767:Nt5dc3	APN	10	86,656,137 (GRCm39)	splice site	probably benign
IGL01369:Nt5dc3	APN	10	86,656,139 (GRCm39)	splice site	probably benign
IGL01376:Nt5dc3	APN	10	86,670,028 (GRCm39)	missense	probably benign	0.05
IGL01568:Nt5dc3	APN	10	86,669,802 (GRCm39)	missense	probably benign	0.02
IGL02286:Nt5dc3	APN	10	86,656,644 (GRCm39)	splice site	probably benign
IGL02692:Nt5dc3	APN	10	86,640,642 (GRCm39)	splice site	probably null
R0372:Nt5dc3	UTSW	10	86,661,155 (GRCm39)	missense	possibly damaging	0.82
R0714:Nt5dc3	UTSW	10	86,648,238 (GRCm39)	missense	probably damaging	1.00
R1755:Nt5dc3	UTSW	10	86,660,115 (GRCm39)	missense	probably damaging	1.00
R1888:Nt5dc3	UTSW	10	86,669,926 (GRCm39)	missense	possibly damaging	0.66
R1888:Nt5dc3	UTSW	10	86,669,926 (GRCm39)	missense	possibly damaging	0.66
R3973:Nt5dc3	UTSW	10	86,660,100 (GRCm39)	missense	probably damaging	1.00
R4097:Nt5dc3	UTSW	10	86,669,820 (GRCm39)	missense	probably benign	0.01
R4871:Nt5dc3	UTSW	10	86,652,941 (GRCm39)	missense	probably damaging	1.00
R5286:Nt5dc3	UTSW	10	86,640,656 (GRCm39)	missense	probably benign	0.08
R5482:Nt5dc3	UTSW	10	86,647,395 (GRCm39)	missense	probably damaging	1.00
R5530:Nt5dc3	UTSW	10	86,656,857 (GRCm39)	missense	probably damaging	0.99
R5861:Nt5dc3	UTSW	10	86,651,738 (GRCm39)	missense	probably damaging	1.00
R6260:Nt5dc3	UTSW	10	86,647,395 (GRCm39)	missense	probably damaging	1.00
R8251:Nt5dc3	UTSW	10	86,656,091 (GRCm39)	missense	probably damaging	0.98
R8734:Nt5dc3	UTSW	10	86,669,863 (GRCm39)	missense	possibly damaging	0.94

Posted On

2013-10-07