Mutagenetix > Incidental Mutation

Incidental Mutation 'R5530:Nt5dc3'

433647

Institutional Source

Beutler Lab

Gene Symbol

Nt5dc3

Ensembl Gene

ENSMUSG00000054027

Gene Name

5'-nucleotidase domain containing 3

Synonyms

Gnn, C630002B14Rik

MMRRC Submission

043088-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5530 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86614869-86674253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86656857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 332 (F332S)

Ref Sequence

ENSEMBL: ENSMUSP00000096994 (fasta)

Gene Model

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

AlphaFold

Q3UHB1

Predicted Effect

probably damaging
Transcript: ENSMUST00000099396
AA Change: F332S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096994
Gene: ENSMUSG00000054027
AA Change: F332S

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: F273S

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 95.3%
20x: 91.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,154,556 (GRCm39)		probably benign	Het
Anapc2	A	G	2: 25,174,595 (GRCm39)	K653E	possibly damaging	Het
Aplp1	T	C	7: 30,136,254 (GRCm39)	S508G	possibly damaging	Het
Bend3	T	A	10: 43,387,722 (GRCm39)	V705D	probably damaging	Het
Btaf1	C	A	19: 36,968,175 (GRCm39)	A1120E	possibly damaging	Het
Carmil3	T	C	14: 55,731,081 (GRCm39)	V116A	probably damaging	Het
Cdk5rap3	A	T	11: 96,802,459 (GRCm39)	Y238*	probably null	Het
Cep170	T	C	1: 176,597,076 (GRCm39)	H427R	probably benign	Het
Cubn	G	A	2: 13,313,334 (GRCm39)	R3079W	probably damaging	Het
Edc4	G	T	8: 106,615,886 (GRCm39)	E694*	probably null	Het
Entrep1	T	A	19: 23,952,958 (GRCm39)	T451S	probably benign	Het
Epb41l4b	A	G	4: 57,086,003 (GRCm39)	S191P	probably damaging	Het
Fbxo46	T	C	7: 18,870,727 (GRCm39)	Y449H	probably damaging	Het
Ficd	C	A	5: 113,876,986 (GRCm39)	P387Q	probably damaging	Het
Grin2b	T	C	6: 135,710,721 (GRCm39)	T942A	probably benign	Het
Hoxb1	G	C	11: 96,257,754 (GRCm39)	R228P	probably damaging	Het
Jmjd1c	T	C	10: 67,085,541 (GRCm39)	F2444L	probably damaging	Het
Kcnj2	T	C	11: 110,962,917 (GRCm39)	F103S	probably damaging	Het
Mapkbp1	A	G	2: 119,845,836 (GRCm39)	I402V	probably benign	Het
Mtcl2	T	A	2: 156,862,262 (GRCm39)	S1556C	probably damaging	Het
Mvp	A	G	7: 126,595,095 (GRCm39)	V250A	probably benign	Het
Myo1b	T	A	1: 51,836,582 (GRCm39)	N293I	probably damaging	Het
Npy5r	T	A	8: 67,133,512 (GRCm39)	Y427F	probably benign	Het
Nrdc	C	T	4: 108,904,806 (GRCm39)	T747M	probably damaging	Het
Nrxn2	C	T	19: 6,548,397 (GRCm39)	P30L	possibly damaging	Het
Optc	T	G	1: 133,832,828 (GRCm39)	T91P	probably benign	Het
Or14j10	A	G	17: 37,934,698 (GRCm39)	I276T	possibly damaging	Het
Or8b12c	A	G	9: 37,716,103 (GRCm39)	T299A	probably benign	Het
Otud7b	A	T	3: 96,048,799 (GRCm39)	E92V	probably damaging	Het
Pgap4	A	G	4: 49,586,226 (GRCm39)	L314P	probably benign	Het
Pla2g4d	A	G	2: 120,100,036 (GRCm39)	I677T	probably benign	Het
Pot1a	T	C	6: 25,778,893 (GRCm39)	E67G	probably damaging	Het
Ppil6	T	C	10: 41,383,494 (GRCm39)	S257P	probably damaging	Het
Ppp1r14a	T	C	7: 28,988,791 (GRCm39)	L11P	probably benign	Het
Ppp1r14bl	A	T	1: 23,141,071 (GRCm39)	I81N	probably damaging	Het
Pramel13	A	T	4: 144,119,232 (GRCm39)	M445K	probably benign	Het
Rad21l	A	T	2: 151,499,430 (GRCm39)	I257K	probably benign	Het
Rbm11	A	G	16: 75,389,861 (GRCm39)	D9G	possibly damaging	Het
Rhbdf2	T	C	11: 116,491,488 (GRCm39)	Y586C	probably damaging	Het
Rxfp2	A	T	5: 149,980,275 (GRCm39)	I276F	probably damaging	Het
Sec14l4	A	G	11: 3,996,342 (GRCm39)	*404W	probably null	Het
Sec16a	A	G	2: 26,329,264 (GRCm39)	V917A	probably benign	Het
Sec61a2	A	T	2: 5,887,461 (GRCm39)	Y131*	probably null	Het
Sspo	A	T	6: 48,442,517 (GRCm39)	Y2004F	probably damaging	Het
Stab2	T	C	10: 86,783,026 (GRCm39)	E674G	probably benign	Het
Tmf1	A	G	6: 97,135,048 (GRCm39)	S989P	probably damaging	Het
Tshz1	T	C	18: 84,031,393 (GRCm39)	D1005G	probably damaging	Het
Wdr19	T	C	5: 65,385,562 (GRCm39)	S555P	probably benign	Het
Zdhhc24	T	A	19: 4,933,591 (GRCm39)		probably null	Het
Zfp558	A	G	9: 18,367,669 (GRCm39)	M373T	probably benign	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
IGL01318:Nt5dc3	APN	10	86,661,089 (GRCm39)	missense	possibly damaging	0.69
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
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

Predicted Primers

PCR Primer
(F):5'- CAAGTGCCATTCGTCTTAGTAGC -3'
(R):5'- AAAGCCTGACTCAGAACTGCAG -3'

Sequencing Primer
(F):5'- CCATTCGTCTTAGTAGCTGGAAAG -3'
(R):5'- CTCAACTGAGAACACTGTCTGCTATG -3'

Posted On

2016-10-06