Mutagenetix > Incidental Mutation

Incidental Mutation 'R6495:Nt5dc1'

520448

Institutional Source

Beutler Lab

Gene Symbol

Nt5dc1

Ensembl Gene

ENSMUSG00000039480

Gene Name

5'-nucleotidase domain containing 1

Synonyms

6030401B09Rik, Nt5c2l1

MMRRC Submission

044627-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6495 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34179605-34294585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34200365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 217 (L217P)

Ref Sequence

ENSEMBL: ENSMUSP00000101151 (fasta)

Gene Model

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

AlphaFold

Q8C5P5

Predicted Effect

probably damaging
Transcript: ENSMUST00000047885
AA Change: L218P

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

SMART Domains

Protein: ENSMUSP00000047126
Gene: ENSMUSG00000039480
AA Change: L218P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105512
AA Change: L217P

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

SMART Domains

Protein: ENSMUSP00000101151
Gene: ENSMUSG00000039480
AA Change: L217P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130290

Meta Mutation Damage Score

0.8098

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	T	A	12: 112,740,148 (GRCm39)	E502V	probably damaging	Het
Apbb1ip	T	A	2: 22,743,132 (GRCm39)	Y321*	probably null	Het
Apob	A	G	12: 8,040,394 (GRCm39)	K577R	probably null	Het
Arfgef3	A	G	10: 18,486,950 (GRCm39)		probably null	Het
Asap3	T	A	4: 135,955,790 (GRCm39)		probably null	Het
Atp13a5	C	T	16: 29,140,440 (GRCm39)		probably null	Het
Bcan	C	A	3: 87,903,904 (GRCm39)	A194S	possibly damaging	Het
Cacybp	T	C	1: 160,036,093 (GRCm39)	T32A	probably benign	Het
Cd82	A	G	2: 93,260,357 (GRCm39)	V90A	probably benign	Het
Chd5	C	T	4: 152,451,829 (GRCm39)	R714C	probably damaging	Het
Cpb2	T	C	14: 75,512,519 (GRCm39)	Y311H	probably damaging	Het
Cyp39a1	T	C	17: 44,002,585 (GRCm39)	Y267H	probably benign	Het
Dnajc6	C	T	4: 101,492,262 (GRCm39)	Q766*	probably null	Het
Dusp3	T	C	11: 101,872,653 (GRCm39)	I48V	probably benign	Het
Eif3c	A	T	7: 126,146,672 (GRCm39)	F809I	probably damaging	Het
Exosc10	C	T	4: 148,647,329 (GRCm39)	P213S	probably benign	Het
Galns	C	T	8: 123,327,349 (GRCm39)	G141D	probably damaging	Het
Gm3233	A	T	10: 77,594,886 (GRCm39)		probably benign	Het
Hadha	A	T	5: 30,325,048 (GRCm39)	L714H	probably benign	Het
Map3k20	T	C	2: 72,198,763 (GRCm39)	M123T	probably damaging	Het
Nubp2	A	T	17: 25,104,577 (GRCm39)	D54E	probably damaging	Het
Onecut1	C	T	9: 74,770,497 (GRCm39)	R307C	probably damaging	Het
Or5b116	T	A	19: 13,422,989 (GRCm39)	D204E	probably benign	Het
Pcdhb17	A	G	18: 37,618,720 (GRCm39)	Y170C	probably damaging	Het
Pkd2	T	A	5: 104,637,159 (GRCm39)	C591S	probably damaging	Het
Pramel15	T	C	4: 144,103,409 (GRCm39)	N239S	probably benign	Het
Pwp2	A	T	10: 78,012,961 (GRCm39)	V549E	probably damaging	Het
Rapsn	A	T	2: 90,866,973 (GRCm39)	S92C	probably damaging	Het
Rbm19	A	G	5: 120,257,745 (GRCm39)	S90G	probably damaging	Het
Rfc1	G	A	5: 65,431,158 (GRCm39)		probably null	Het
Rims2	T	A	15: 39,381,208 (GRCm39)	F1046L	probably benign	Het
S100a16	C	T	3: 90,449,735 (GRCm39)	R73C	probably benign	Het
Shroom3	T	C	5: 93,089,928 (GRCm39)	Y893H	possibly damaging	Het
Stt3b	T	A	9: 115,096,388 (GRCm39)	Y253F	possibly damaging	Het
Taar8b	A	G	10: 23,967,160 (GRCm39)	*345Q	probably null	Het
Tas2r119	G	A	15: 32,177,676 (GRCm39)	V81I	probably benign	Het
Tas2r129	A	G	6: 132,928,128 (GRCm39)	I22V	probably benign	Het
Tbc1d19	T	G	5: 54,046,555 (GRCm39)		probably null	Het
Tnip3	A	T	6: 65,582,846 (GRCm39)	I218F	probably benign	Het
Tnks	A	T	8: 35,307,120 (GRCm39)		probably null	Het
Ttc29	T	C	8: 79,008,963 (GRCm39)	Y278H	possibly damaging	Het
Tut7	T	C	13: 59,947,753 (GRCm39)	E454G	possibly damaging	Het
Uba7	T	A	9: 107,854,213 (GRCm39)	C214*	probably null	Het
Vmn2r115	A	T	17: 23,578,572 (GRCm39)	I682F	probably benign	Het
Vmn2r75	A	T	7: 85,813,287 (GRCm39)	M505K	probably benign	Het
Wdr19	A	T	5: 65,415,466 (GRCm39)	T1313S	probably benign	Het
Zbtb22	A	G	17: 34,136,224 (GRCm39)	D123G	probably damaging	Het
Zdhhc7	A	G	8: 120,813,395 (GRCm39)	I138T	probably benign	Het
Zfp706	T	C	15: 37,004,045 (GRCm39)	K7R	unknown	Het
Zkscan3	G	A	13: 21,572,075 (GRCm39)	P519L	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
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
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'- CACCCTACAATCTGTCAGGGAC -3'
(R):5'- CCACGAGAACAGTACTACTCTG -3'

Sequencing Primer
(F):5'- GTCAGGGACTATATTCTCCGTCAG -3'
(R):5'- TGAGTTCCATAGTAGCTAGGACCC -3'

Posted On

2018-06-06