Mutagenetix > Incidental Mutations

Incidental Mutation 'R8160:Nt5dc1'

633477

Institutional Source

Beutler Lab

Gene Symbol

Nt5dc1

Ensembl Gene

ENSMUSG00000039480

Gene Name

5'-nucleotidase domain containing 1

Synonyms

Nt5c2l1, 6030401B09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8160 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34288288-34418552 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34324396 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 209 (E209V)

Ref Sequence

ENSEMBL: ENSMUSP00000047126 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047885
AA Change: E209V

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047126
Gene: ENSMUSG00000039480
AA Change: E209V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105512
AA Change: E208V

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101151
Gene: ENSMUSG00000039480
AA Change: E208V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

100% (32/32)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415F15Rik	T	C	11: 11,487,734	S246P	unknown	Het
Adam12	C	T	7: 133,968,041		probably null	Het
Aldh8a1	A	G	10: 21,395,791	D472G	possibly damaging	Het
Appl1	T	C	14: 26,928,635	I527V	probably benign	Het
Arhgef4	C	A	1: 34,723,574	T637K	unknown	Het
Atp7b	G	A	8: 21,997,559	A1273V	probably damaging	Het
Ccl20	T	A	1: 83,117,822	S35T		Het
Cdh24	C	A	14: 54,638,489	V208F	probably damaging	Het
Dchs2	A	T	3: 83,270,805	Q1055L	probably benign	Het
Dock8	G	A	19: 25,147,347	R1009Q	probably damaging	Het
Ext2	A	T	2: 93,813,762	V58E	probably benign	Het
Fam208a	T	A	14: 27,449,956	N420K	probably damaging	Het
Fam209	A	T	2: 172,472,725	I45F	possibly damaging	Het
Hfm1	T	C	5: 106,896,033	Y579C	probably null	Het
Hipk4	C	T	7: 27,523,761	A82V	possibly damaging	Het
Il17rc	A	G	6: 113,476,528	Y223C	possibly damaging	Het
Itsn1	G	A	16: 91,818,558	R397H	unknown	Het
Kdm5b	T	A	1: 134,613,919	M744K	probably damaging	Het
Mettl16	T	C	11: 74,817,679	V568A	probably damaging	Het
Mink1	C	T	11: 70,606,081	Q422*	probably null	Het
Mvb12b	G	T	2: 33,840,222	D81E	probably benign	Het
Nostrin	A	T	2: 69,179,466	I313F	probably damaging	Het
Nsun6	A	G	2: 15,009,408		probably null	Het
Oasl2	T	C	5: 114,901,286		probably benign	Het
Olfr303	C	T	7: 86,395,265	V78M	possibly damaging	Het
Olfr517	C	T	7: 108,868,788	R122Q	possibly damaging	Het
Olfr857	T	A	9: 19,712,789		probably benign	Het
Ppm1h	A	T	10: 122,802,436	T204S	probably benign	Het
Rad51b	T	A	12: 79,303,341	L70I	probably benign	Het
Smok3c	A	G	5: 138,065,024	T258A	possibly damaging	Het
Snai2	T	C	16: 14,706,804	V58A	possibly damaging	Het
St6galnac1	G	A	11: 116,775,490		probably benign	Het

Other mutations in Nt5dc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Nt5dc1	APN	10	34407557	missense	possibly damaging	0.80
IGL02096:Nt5dc1	APN	10	34399810	nonsense	probably null
IGL02471:Nt5dc1	APN	10	34403725	missense	probably benign	0.03
IGL03345:Nt5dc1	APN	10	34324462	missense	probably benign	0.04
R0083:Nt5dc1	UTSW	10	34403764	missense	probably damaging	0.98
R1159:Nt5dc1	UTSW	10	34398173	missense	possibly damaging	0.93
R1898:Nt5dc1	UTSW	10	34313635	missense	probably benign	0.00
R1901:Nt5dc1	UTSW	10	34313671	missense	probably damaging	1.00
R2327:Nt5dc1	UTSW	10	34313677	missense	possibly damaging	0.66
R4365:Nt5dc1	UTSW	10	34310381	missense	probably benign	0.20
R4942:Nt5dc1	UTSW	10	34322677	missense	probably damaging	1.00
R4943:Nt5dc1	UTSW	10	34310391	missense	probably damaging	1.00
R5168:Nt5dc1	UTSW	10	34397240	missense	probably benign	0.05
R5507:Nt5dc1	UTSW	10	34397230	missense	probably benign
R5605:Nt5dc1	UTSW	10	34403695	missense	probably benign	0.12
R6406:Nt5dc1	UTSW	10	34324408	missense	probably benign	0.04
R6495:Nt5dc1	UTSW	10	34324369	missense	probably damaging	1.00
R6799:Nt5dc1	UTSW	10	34313707	missense	possibly damaging	0.79
R6835:Nt5dc1	UTSW	10	34310379	missense	probably benign	0.04
R7480:Nt5dc1	UTSW	10	34324453	missense	probably damaging	1.00
R7480:Nt5dc1	UTSW	10	34324454	missense	probably damaging	1.00
R7486:Nt5dc1	UTSW	10	34399809	missense	probably benign	0.26
R7493:Nt5dc1	UTSW	10	34304936	missense	probably benign	0.00
R7638:Nt5dc1	UTSW	10	34314796	missense	probably benign	0.04
R8042:Nt5dc1	UTSW	10	34397214	missense	probably benign	0.19
R8268:Nt5dc1	UTSW	10	34310411	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTAGTGATCACCTAACACCG -3'
(R):5'- GAGTCTTCCACGAGAACAGTAC -3'

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

Posted On

2020-07-13