Mutagenetix > Incidental Mutation

Incidental Mutation 'R1898:Nt5dc1'

212139

Institutional Source

Beutler Lab

Gene Symbol

Nt5dc1

Ensembl Gene

ENSMUSG00000039480

Gene Name

5'-nucleotidase domain containing 1

Synonyms

6030401B09Rik, Nt5c2l1

MMRRC Submission

039918-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34179605-34294585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34189631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 352 (E352G)

Ref Sequence

ENSEMBL: ENSMUSP00000101151 (fasta)

Gene Model

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

AlphaFold

Q8C5P5

Predicted Effect

probably benign
Transcript: ENSMUST00000047885
AA Change: E353G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000047126
Gene: ENSMUSG00000039480
AA Change: E353G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105512
AA Change: E352G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101151
Gene: ENSMUSG00000039480
AA Change: E352G

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

Predicted Effect

unknown
Transcript: ENSMUST00000129363
AA Change: E16G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130290

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	A	4: 53,071,977 (GRCm39)	R1195L	probably benign	Het
Abca14	A	G	7: 119,850,392 (GRCm39)	Y748C	probably damaging	Het
Abca6	A	G	11: 110,099,625 (GRCm39)	F974S	probably damaging	Het
Acyp1	T	C	12: 85,335,114 (GRCm39)	K2E	probably benign	Het
Ahcy	T	A	2: 154,904,173 (GRCm39)	S355C	probably benign	Het
AI182371	A	G	2: 34,990,661 (GRCm39)	V12A	probably damaging	Het
Ankrd36	T	C	11: 5,525,683 (GRCm39)	I215T	probably benign	Het
Aox1	C	T	1: 58,117,601 (GRCm39)	R828C	probably damaging	Het
Atp1a4	T	A	1: 172,062,615 (GRCm39)	I631F	probably damaging	Het
Brd10	T	C	19: 29,712,532 (GRCm39)	N789S	possibly damaging	Het
Brinp3	T	G	1: 146,776,987 (GRCm39)	V478G	possibly damaging	Het
Cadm2	G	A	16: 66,612,271 (GRCm39)	S106L	probably damaging	Het
Celf2	C	T	2: 6,608,975 (GRCm39)	V95M	probably damaging	Het
Chka	A	T	19: 3,942,205 (GRCm39)	E404D	probably damaging	Het
Clec5a	A	C	6: 40,558,870 (GRCm39)	V72G	probably benign	Het
Cnn1	T	C	9: 22,012,560 (GRCm39)		probably null	Het
Coq6	A	G	12: 84,413,737 (GRCm39)	E89G	probably benign	Het
Cpne6	A	T	14: 55,754,485 (GRCm39)	I538F	possibly damaging	Het
Crx	G	A	7: 15,602,148 (GRCm39)	P177S	probably damaging	Het
Cysltr2	G	T	14: 73,266,973 (GRCm39)	P246T	probably damaging	Het
Decr1	A	G	4: 15,929,801 (GRCm39)	I164T	probably damaging	Het
Dmtf1	A	T	5: 9,178,091 (GRCm39)	V315E	probably damaging	Het
Dnah7b	A	G	1: 46,275,874 (GRCm39)	N2587S	probably benign	Het
E2f6	C	A	12: 16,874,581 (GRCm39)	T221K	probably benign	Het
Fat3	T	G	9: 15,871,426 (GRCm39)	D3655A	probably damaging	Het
Fbxw28	G	A	9: 109,152,452 (GRCm39)	T384I	probably benign	Het
Fes	T	A	7: 80,029,659 (GRCm39)	I608F	probably damaging	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Gabrb2	A	G	11: 42,484,659 (GRCm39)	K239E	possibly damaging	Het
Gen1	T	C	12: 11,291,609 (GRCm39)	R727G	probably benign	Het
Glb1	T	A	9: 114,253,103 (GRCm39)	V184E	probably damaging	Het
Gngt1	A	T	6: 3,996,724 (GRCm39)	I57F	possibly damaging	Het
Ice1	T	C	13: 70,750,426 (GRCm39)	I87V	possibly damaging	Het
Itih1	A	G	14: 30,654,244 (GRCm39)	Y674H	probably benign	Het
Itsn1	T	A	16: 91,696,468 (GRCm39)	C24S	probably damaging	Het
Loxl1	A	G	9: 58,204,961 (GRCm39)	V418A	probably damaging	Het
Myh10	A	G	11: 68,662,732 (GRCm39)	N595S	probably damaging	Het
Myo5c	C	T	9: 75,204,908 (GRCm39)	T1587I	probably damaging	Het
Npat	T	A	9: 53,474,937 (GRCm39)	F910I	probably damaging	Het
Nradd	T	C	9: 110,450,676 (GRCm39)	Y167C	probably damaging	Het
Numa1	T	C	7: 101,641,927 (GRCm39)		probably null	Het
Odc1	T	A	12: 17,598,842 (GRCm39)	S241T	probably damaging	Het
Or11g2	A	T	14: 50,856,231 (GRCm39)	D184V	probably damaging	Het
Or14j7	A	T	17: 38,234,516 (GRCm39)	N20Y	possibly damaging	Het
Pcnx3	T	C	19: 5,722,615 (GRCm39)	D951G	probably damaging	Het
Pigg	T	C	5: 108,484,408 (GRCm39)	F685L	probably benign	Het
Pnpla7	T	A	2: 24,943,796 (GRCm39)		probably benign	Het
Pramel16	C	T	4: 143,677,298 (GRCm39)	V94M	probably damaging	Het
Rcsd1	C	T	1: 165,486,998 (GRCm39)	A72T	probably benign	Het
Rp1l1	A	T	14: 64,269,039 (GRCm39)	T1542S	probably benign	Het
Sct	A	T	7: 140,858,761 (GRCm39)	L57Q	probably damaging	Het
Serpinb3b	T	C	1: 107,082,317 (GRCm39)	S316G	possibly damaging	Het
Shprh	T	C	10: 11,062,613 (GRCm39)	L1240S	probably damaging	Het
Slc4a1	C	T	11: 102,241,133 (GRCm39)	E924K	probably damaging	Het
Sp7	A	T	15: 102,267,453 (GRCm39)	Y118N	possibly damaging	Het
Srebf2	A	G	15: 82,087,936 (GRCm39)	T219A	probably damaging	Het
Tenm3	G	T	8: 48,763,796 (GRCm39)	P753T	probably damaging	Het
Tonsl	A	T	15: 76,523,053 (GRCm39)		probably null	Het
Trio	A	T	15: 27,742,466 (GRCm39)	S2675T	possibly damaging	Het
Tspan12	T	C	6: 21,795,693 (GRCm39)	T166A	probably damaging	Het
Ttll4	A	G	1: 74,736,641 (GRCm39)	D1122G	probably benign	Het
Vmn1r77	G	A	7: 11,775,550 (GRCm39)	A41T	probably damaging	Het
Xpo7	A	T	14: 70,933,064 (GRCm39)	F276Y	probably benign	Het
Zdhhc1	A	T	8: 106,205,378 (GRCm39)		probably null	Het
Zfp319	C	A	8: 96,055,417 (GRCm39)	C262F	probably damaging	Het
Zfp442	C	T	2: 150,250,582 (GRCm39)	C383Y	probably damaging	Het
Zfp57	G	T	17: 37,320,650 (GRCm39)	R168L	possibly 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
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
R4942:Nt5dc1	UTSW	10	34,198,673 (GRCm39)	missense	probably damaging	1.00
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'- CGGCAGACCAGAATACTTTGC -3'
(R):5'- TTGTAGGAATTTAAGACCCTTGGG -3'

Sequencing Primer
(F):5'- GACTGGTGTAAAACTTGCCCCTG -3'
(R):5'- CTGCTGCCTGTGGAGGG -3'

Posted On

2014-06-30