Mutagenetix > Incidental Mutation

Incidental Mutation 'R6835:Nt5dc1'

534403

Institutional Source

Beutler Lab

Gene Symbol

Nt5dc1

Ensembl Gene

ENSMUSG00000039480

Gene Name

5'-nucleotidase domain containing 1

Synonyms

6030401B09Rik, Nt5c2l1

MMRRC Submission

044944-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6835 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34179605-34294585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 34186375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 398 (S398A)

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: S399A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000047126
Gene: ENSMUSG00000039480
AA Change: S399A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105512
AA Change: S398A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101151
Gene: ENSMUSG00000039480
AA Change: S398A

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

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,807,761 (GRCm39)	R695G	probably benign	Het
Arhgef4	A	G	1: 34,845,574 (GRCm39)	H1533R	probably damaging	Het
Birc6	T	C	17: 74,949,499 (GRCm39)	L3120P	probably damaging	Het
Cfap46	T	A	7: 139,232,414 (GRCm39)	I850F	probably damaging	Het
Crym	A	C	7: 119,785,868 (GRCm39)	S311A	probably benign	Het
Cttn	T	C	7: 144,010,234 (GRCm39)		probably null	Het
Dtnb	C	T	12: 3,682,841 (GRCm39)		probably benign	Het
Edem1	T	C	6: 108,831,360 (GRCm39)	V607A	probably benign	Het
Etfa	A	G	9: 55,403,103 (GRCm39)	V64A	probably benign	Het
Fam133b	A	G	5: 3,604,732 (GRCm39)	T40A	possibly damaging	Het
Fmn2	C	A	1: 174,527,235 (GRCm39)	D1442E	probably damaging	Het
Gpi1	T	C	7: 33,926,563 (GRCm39)	K128E	possibly damaging	Het
Gpr179	A	T	11: 97,238,293 (GRCm39)	F310L	probably damaging	Het
Hdac7	T	A	15: 97,700,628 (GRCm39)	H531L	probably damaging	Het
Hfm1	G	A	5: 107,026,681 (GRCm39)	R145*	probably null	Het
Hsp90b1	A	T	10: 86,529,949 (GRCm39)	D573E	probably damaging	Het
Hunk	T	G	16: 90,269,412 (GRCm39)	W243G	probably damaging	Het
Icam1	G	T	9: 20,938,421 (GRCm39)	G327W	possibly damaging	Het
Ino80d	C	A	1: 63,113,485 (GRCm39)	A322S	probably benign	Het
Irag1	T	G	7: 110,520,541 (GRCm39)	E278A	probably damaging	Het
Itpkc	A	C	7: 26,927,240 (GRCm39)	S225A	probably benign	Het
Krt75	C	T	15: 101,479,472 (GRCm39)	R286Q	probably benign	Het
Lmnb2	A	G	10: 80,745,794 (GRCm39)	L95P	probably damaging	Het
Mns1	T	C	9: 72,360,026 (GRCm39)	M392T	probably damaging	Het
Morc3	A	T	16: 93,644,309 (GRCm39)	N200I	probably damaging	Het
Myadm	T	C	7: 3,346,192 (GRCm39)	V318A	possibly damaging	Het
Or13c7	T	C	4: 43,854,912 (GRCm39)	V201A	probably benign	Het
Or1e31	A	G	11: 73,690,061 (GRCm39)	I174T	possibly damaging	Het
Pcdhga2	T	C	18: 37,803,842 (GRCm39)	I562T	probably damaging	Het
Pcdhgb1	T	A	18: 37,813,553 (GRCm39)	C15S	probably benign	Het
Pikfyve	T	G	1: 65,298,002 (GRCm39)	L1532R	probably damaging	Het
Rdh7	T	A	10: 127,720,608 (GRCm39)	T255S	probably benign	Het
Rtel1	A	G	2: 180,997,746 (GRCm39)	T1165A	probably benign	Het
Sdk2	C	T	11: 113,720,874 (GRCm39)	A1352T	probably damaging	Het
Strip2	T	C	6: 29,941,916 (GRCm39)	S629P	probably damaging	Het
Taf5	A	G	19: 47,065,776 (GRCm39)	T494A	possibly damaging	Het
Tek	T	G	4: 94,741,671 (GRCm39)	N809K	possibly damaging	Het
Tmbim7	A	T	5: 3,711,943 (GRCm39)	T63S	probably benign	Het
Utrn	A	T	10: 12,603,508 (GRCm39)	L624Q	probably damaging	Het
Xbp1	A	G	11: 5,471,809 (GRCm39)		probably benign	Het
Zbp1	T	A	2: 173,055,704 (GRCm39)		probably null	Het
Zfp112	T	C	7: 23,825,231 (GRCm39)	C400R	probably damaging	Het
Zfp202	C	T	9: 40,121,531 (GRCm39)		probably null	Het
Zfp747	T	C	7: 126,973,219 (GRCm39)	E317G	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
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
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
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'- TCTTAAGAAGACCGCTCCTTTTG -3'
(R):5'- TGGGTCATGTTAAAGTGCACTCATAG -3'

Sequencing Primer
(F):5'- GAAGACCGCTCCTTTTGAAGAC -3'
(R):5'- TGTTAAAGTGCACTCATAGTAAGGAG -3'

Posted On

2018-09-12