Mutagenetix > Incidental Mutation

Incidental Mutation 'R4942:Nt5dc1'

383209

Institutional Source

Beutler Lab

Gene Symbol

Nt5dc1

Ensembl Gene

ENSMUSG00000039480

Gene Name

5'-nucleotidase domain containing 1

Synonyms

6030401B09Rik, Nt5c2l1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4942 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34179605-34294585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34198673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 255 (V255E)

Ref Sequence

ENSEMBL: ENSMUSP00000047126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047885] [ENSMUST00000105512]

AlphaFold

Q8C5P5

Predicted Effect

probably damaging
Transcript: ENSMUST00000047885
AA Change: V255E

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

SMART Domains

Protein: ENSMUSP00000047126
Gene: ENSMUSG00000039480
AA Change: V255E

Domain	Start	End	E-Value	Type
Pfam:5_nucleotid	1	382	2.6e-58	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105512
AA Change: V254E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101151
Gene: ENSMUSG00000039480
AA Change: V254E

Domain	Start	End	E-Value	Type
Pfam:5_nucleotid	1	372	8.7e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130290

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	A	G	11: 25,720,472 (GRCm39)		probably null	Het
Adamts7	T	C	9: 90,045,364 (GRCm39)	S23P	probably benign	Het
Adamtsl1	T	A	4: 86,259,451 (GRCm39)	C824*	probably null	Het
Adgre1	A	G	17: 57,713,903 (GRCm39)	Y196C	probably damaging	Het
Arap1	A	G	7: 101,051,009 (GRCm39)	D542G	possibly damaging	Het
B3gat1	A	G	9: 26,666,894 (GRCm39)	D42G	probably benign	Het
Birc6	G	A	17: 74,930,045 (GRCm39)	A2412T	probably damaging	Het
Bnip5	T	C	17: 29,122,232 (GRCm39)	R420G	probably benign	Het
Bsn	A	G	9: 107,983,678 (GRCm39)	Y3459H	unknown	Het
Cacnb1	T	C	11: 97,893,809 (GRCm39)	Y571C	probably damaging	Het
Cdk2ap2	G	A	19: 4,147,508 (GRCm39)		probably null	Het
Cep57	A	G	9: 13,724,723 (GRCm39)	S265P	probably damaging	Het
Clca3a1	A	G	3: 144,710,524 (GRCm39)	I893T	probably benign	Het
Clca3a2	T	A	3: 144,512,263 (GRCm39)	E491V	probably damaging	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Cobl	A	T	11: 12,204,185 (GRCm39)	I832N	probably damaging	Het
Col9a2	T	C	4: 120,910,316 (GRCm39)	V487A	possibly damaging	Het
Cse1l	C	T	2: 166,771,714 (GRCm39)	T325I	probably damaging	Het
Dlx6	A	G	6: 6,863,468 (GRCm39)	Q30R	probably benign	Het
Dnah8	T	C	17: 30,948,116 (GRCm39)	V1902A	probably benign	Het
Dusp8	A	G	7: 141,635,965 (GRCm39)	F542L	possibly damaging	Het
Emid1	T	G	11: 5,079,430 (GRCm39)	M323L	probably benign	Het
Ercc5	A	G	1: 44,215,125 (GRCm39)	D886G	probably benign	Het
Fam184b	T	C	5: 45,730,649 (GRCm39)	E461G	probably damaging	Het
Fbn1	C	A	2: 125,225,536 (GRCm39)	C572F	possibly damaging	Het
Gigyf1	G	T	5: 137,523,952 (GRCm39)	V1041L	possibly damaging	Het
Grin3b	A	G	10: 79,811,556 (GRCm39)	H714R	probably damaging	Het
Heatr1	A	G	13: 12,428,391 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lypd6b	C	A	2: 49,836,132 (GRCm39)	H104Q	probably benign	Het
Man1a	A	T	10: 53,809,586 (GRCm39)		probably null	Het
Megf6	A	T	4: 154,338,277 (GRCm39)	D449V	probably damaging	Het
Mtor	T	C	4: 148,556,599 (GRCm39)	V1003A	probably benign	Het
Ncan	C	A	8: 70,552,944 (GRCm39)	W1096L	probably damaging	Het
Ndor1	C	T	2: 25,138,133 (GRCm39)		probably null	Het
Ndufaf1	T	C	2: 119,490,547 (GRCm39)	E171G	possibly damaging	Het
Nell1	T	C	7: 49,770,397 (GRCm39)	V152A	possibly damaging	Het
Nherf4	C	A	9: 44,159,915 (GRCm39)	G402*	probably null	Het
Or2a20	T	A	6: 43,193,928 (GRCm39)	F27Y	probably damaging	Het
Or2y1b	A	T	11: 49,208,375 (GRCm39)	M1L	probably null	Het
Or52h7	A	G	7: 104,214,212 (GRCm39)	I261M	probably benign	Het
Or52z14	G	A	7: 103,253,401 (GRCm39)	R180H	probably benign	Het
Otud7a	T	C	7: 63,407,171 (GRCm39)	I50T	probably damaging	Het
P2ry13	G	A	3: 59,116,983 (GRCm39)	T265I	probably benign	Het
Pde4d	A	G	13: 108,996,733 (GRCm39)	S12G	probably benign	Het
Pigk	C	A	3: 152,450,154 (GRCm39)	N219K	probably damaging	Het
Plcg1	T	A	2: 160,595,509 (GRCm39)		probably null	Het
Psd2	A	T	18: 36,111,717 (GRCm39)	D114V	probably damaging	Het
Ptch1	A	T	13: 63,672,884 (GRCm39)	I770N	probably benign	Het
Ptprq	A	T	10: 107,524,290 (GRCm39)	M481K	probably benign	Het
Rnf216	A	C	5: 143,078,814 (GRCm39)	M45R	probably damaging	Het
Rpsa	T	A	9: 119,960,129 (GRCm39)	W231R	probably benign	Het
Ryr1	G	T	7: 28,768,998 (GRCm39)	T2797N	probably damaging	Het
Ryr3	A	T	2: 112,666,602 (GRCm39)	M1468K	probably damaging	Het
Slc6a7	A	G	18: 61,137,589 (GRCm39)	Y244H	probably damaging	Het
Slco6c1	T	A	1: 97,009,049 (GRCm39)	D462V	probably damaging	Het
Spata31d1b	A	T	13: 59,864,917 (GRCm39)	E688D	possibly damaging	Het
Srpra	G	A	9: 35,126,766 (GRCm39)	R508H	probably benign	Het
Tnrc18	A	T	5: 142,773,737 (GRCm39)	I181N	unknown	Het
Tnrc6a	T	C	7: 122,791,836 (GRCm39)	F1785L	probably damaging	Het
Trio	A	T	15: 27,752,811 (GRCm39)	D2174E	probably benign	Het
Ttn	C	T	2: 76,623,600 (GRCm39)	V15326I	probably damaging	Het
Ubap2	T	A	4: 41,245,461 (GRCm39)		probably benign	Het
Vmn2r113	C	T	17: 23,177,321 (GRCm39)	P702S	probably damaging	Het
Vmn2r66	A	T	7: 84,656,980 (GRCm39)	W142R	probably damaging	Het
Vmn2r73	A	G	7: 85,519,582 (GRCm39)	Y459H	probably damaging	Het
Wsb2	C	T	5: 117,515,550 (GRCm39)	T385M	probably damaging	Het

Other mutations in Nt5dc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Nt5dc1	APN	10	34,283,553 (GRCm39)	missense	possibly damaging	0.80
IGL02096:Nt5dc1	APN	10	34,275,806 (GRCm39)	nonsense	probably null
IGL02471:Nt5dc1	APN	10	34,279,721 (GRCm39)	missense	probably benign	0.03
IGL03345:Nt5dc1	APN	10	34,200,458 (GRCm39)	missense	probably benign	0.04
R0083:Nt5dc1	UTSW	10	34,279,760 (GRCm39)	missense	probably damaging	0.98
R1159:Nt5dc1	UTSW	10	34,274,169 (GRCm39)	missense	possibly damaging	0.93
R1898:Nt5dc1	UTSW	10	34,189,631 (GRCm39)	missense	probably benign	0.00
R1901:Nt5dc1	UTSW	10	34,189,667 (GRCm39)	missense	probably damaging	1.00
R2327:Nt5dc1	UTSW	10	34,189,673 (GRCm39)	missense	possibly damaging	0.66
R4365:Nt5dc1	UTSW	10	34,186,377 (GRCm39)	missense	probably benign	0.20
R4943:Nt5dc1	UTSW	10	34,186,387 (GRCm39)	missense	probably damaging	1.00
R5168:Nt5dc1	UTSW	10	34,273,236 (GRCm39)	missense	probably benign	0.05
R5507:Nt5dc1	UTSW	10	34,273,226 (GRCm39)	missense	probably benign
R5605:Nt5dc1	UTSW	10	34,279,691 (GRCm39)	missense	probably benign	0.12
R6406:Nt5dc1	UTSW	10	34,200,404 (GRCm39)	missense	probably benign	0.04
R6495:Nt5dc1	UTSW	10	34,200,365 (GRCm39)	missense	probably damaging	1.00
R6799:Nt5dc1	UTSW	10	34,189,703 (GRCm39)	missense	possibly damaging	0.79
R6835:Nt5dc1	UTSW	10	34,186,375 (GRCm39)	missense	probably benign	0.04
R7480:Nt5dc1	UTSW	10	34,200,450 (GRCm39)	missense	probably damaging	1.00
R7480:Nt5dc1	UTSW	10	34,200,449 (GRCm39)	missense	probably damaging	1.00
R7486:Nt5dc1	UTSW	10	34,275,805 (GRCm39)	missense	probably benign	0.26
R7493:Nt5dc1	UTSW	10	34,180,932 (GRCm39)	missense	probably benign	0.00
R7638:Nt5dc1	UTSW	10	34,190,792 (GRCm39)	missense	probably benign	0.04
R8042:Nt5dc1	UTSW	10	34,273,210 (GRCm39)	missense	probably benign	0.19
R8160:Nt5dc1	UTSW	10	34,200,392 (GRCm39)	missense	possibly damaging	0.79
R8268:Nt5dc1	UTSW	10	34,186,407 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTCTCTTCTTAAGGGGAAATGATG -3'
(R):5'- TCAGAAAACCTGGCTAGCAC -3'

Sequencing Primer
(F):5'- CTTCTTAAGGGGAAATGATGTCCCC -3'
(R):5'- AGTGTAGCTTCCAATTTAAAGTGTG -3'

Posted On

2016-04-27