Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02447:Nt5el'

294034

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nt5el

Ensembl Gene

ENSMUSG00000021718

Gene Name

5' nucleotidase, ecto-like

Synonyms

4933425L06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02447

Quality Score

Status

Chromosome

Chromosomal Location

105218630-105258290 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105236967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 73 (S73C)

Ref Sequence

ENSEMBL: ENSMUSP00000022232 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022232]

AlphaFold

Q9D3Z8

Predicted Effect

probably damaging
Transcript: ENSMUST00000022232
AA Change: S73C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022232
Gene: ENSMUSG00000021718
AA Change: S73C

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:Metallophos	40	245	4.8e-12	PFAM
Pfam:5_nucleotid_C	314	472	4.1e-42	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	T	A	4: 144,401,269 (GRCm39)	I72F	probably benign	Het
Abhd18	T	A	3: 40,888,208 (GRCm39)	F351I	probably benign	Het
Agfg1	T	A	1: 82,859,944 (GRCm39)		probably benign	Het
Antxr2	C	T	5: 98,178,267 (GRCm39)	V48I	possibly damaging	Het
Bcl9l	T	C	9: 44,418,631 (GRCm39)	M823T	probably benign	Het
Card11	G	A	5: 140,892,679 (GRCm39)	H129Y	possibly damaging	Het
Ccr1	A	T	9: 123,763,753 (GRCm39)	V259E	probably benign	Het
Cdk13	G	T	13: 17,947,001 (GRCm39)	P586T	probably benign	Het
Cep295	C	T	9: 15,243,807 (GRCm39)	V1502I	probably damaging	Het
Csnk1g3	T	C	18: 54,028,942 (GRCm39)	S32P	probably benign	Het
Dpysl4	G	A	7: 138,678,516 (GRCm39)	R492Q	probably damaging	Het
Duox2	A	G	2: 122,127,949 (GRCm39)	L78P	probably damaging	Het
Gm7361	T	C	5: 26,462,853 (GRCm39)	S32P	probably benign	Het
Grip1	T	A	10: 119,855,976 (GRCm39)	V234E	probably damaging	Het
Herc1	A	T	9: 66,404,610 (GRCm39)	I4477L	possibly damaging	Het
Il18r1	G	A	1: 40,537,497 (GRCm39)		probably null	Het
Itpkb	A	G	1: 180,248,919 (GRCm39)		probably benign	Het
Jag2	T	C	12: 112,876,232 (GRCm39)	Y799C	probably damaging	Het
Jak2	A	G	19: 29,277,014 (GRCm39)	K857R	probably damaging	Het
Kbtbd12	A	T	6: 88,595,676 (GRCm39)	S51R	probably damaging	Het
Kcnc2	T	G	10: 112,291,851 (GRCm39)	D346E	probably damaging	Het
Kcnh1	T	A	1: 191,907,224 (GRCm39)	M92K	possibly damaging	Het
Kcnk1	A	G	8: 126,751,819 (GRCm39)	I142V	probably damaging	Het
Lsm11	T	C	11: 45,828,191 (GRCm39)	N196D	probably damaging	Het
Mpeg1	G	T	19: 12,440,156 (GRCm39)	C538F	probably damaging	Het
Nrap	G	A	19: 56,333,951 (GRCm39)	Q969*	probably null	Het
Nup205	T	C	6: 35,204,511 (GRCm39)		probably null	Het
Pdcd5	A	G	7: 35,342,110 (GRCm39)	V166A	possibly damaging	Het
Plcb2	A	T	2: 118,543,636 (GRCm39)	I745N	probably damaging	Het
Ptprt	T	C	2: 162,120,027 (GRCm39)	T147A	probably benign	Het
Rbp3	A	T	14: 33,676,460 (GRCm39)	D136V	probably damaging	Het
Ripor3	G	T	2: 167,834,750 (GRCm39)	T247N	probably damaging	Het
Sgcd	A	C	11: 46,870,082 (GRCm39)		probably benign	Het
Slc26a6	T	C	9: 108,734,251 (GRCm39)	Y211H	probably benign	Het
Slc37a3	T	A	6: 39,314,129 (GRCm39)	E494D	probably benign	Het
Smc5	T	C	19: 23,234,856 (GRCm39)	E326G	probably benign	Het
Tctn2	T	C	5: 124,753,316 (GRCm39)		noncoding transcript	Het
Tk2	T	A	8: 104,967,770 (GRCm39)	N93I	probably damaging	Het
Tmed6	A	G	8: 107,792,240 (GRCm39)	F2L	possibly damaging	Het
Tox3	A	G	8: 90,984,781 (GRCm39)		probably benign	Het
Tspan9	T	C	6: 127,941,401 (GRCm39)	Y237C	probably benign	Het
Ubqlnl	A	G	7: 103,797,856 (GRCm39)	L547P	probably damaging	Het
Uggt1	T	C	1: 36,189,223 (GRCm39)	D1421G	probably damaging	Het
Unc80	T	A	1: 66,542,703 (GRCm39)	I319K	possibly damaging	Het
Vac14	A	G	8: 111,380,260 (GRCm39)	D441G	probably benign	Het
Vamp8	C	T	6: 72,365,316 (GRCm39)	V5M	probably damaging	Het
Yeats2	T	A	16: 20,012,429 (GRCm39)	H560Q	probably benign	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp773	G	T	7: 7,139,655 (GRCm39)		probably benign	Het

Other mutations in Nt5el

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00862:Nt5el	APN	13	105,255,192 (GRCm39)	missense	probably damaging	1.00
IGL01099:Nt5el	APN	13	105,245,868 (GRCm39)	missense	probably benign	0.00
IGL01540:Nt5el	APN	13	105,218,761 (GRCm39)	missense	possibly damaging	0.47
IGL01968:Nt5el	APN	13	105,256,338 (GRCm39)	missense	probably damaging	0.98
IGL02364:Nt5el	APN	13	105,218,808 (GRCm39)	missense	probably damaging	1.00
R0534:Nt5el	UTSW	13	105,218,762 (GRCm39)	nonsense	probably null
R1486:Nt5el	UTSW	13	105,246,291 (GRCm39)	missense	probably benign	0.26
R1543:Nt5el	UTSW	13	105,248,877 (GRCm39)	nonsense	probably null
R1544:Nt5el	UTSW	13	105,246,129 (GRCm39)	missense	probably benign	0.00
R1631:Nt5el	UTSW	13	105,218,749 (GRCm39)	missense	probably benign
R1807:Nt5el	UTSW	13	105,218,744 (GRCm39)	missense	probably benign
R1835:Nt5el	UTSW	13	105,218,702 (GRCm39)	missense	unknown
R2427:Nt5el	UTSW	13	105,246,269 (GRCm39)	missense	probably benign	0.03
R2504:Nt5el	UTSW	13	105,246,250 (GRCm39)	missense	probably benign	0.09
R4353:Nt5el	UTSW	13	105,255,253 (GRCm39)	missense	probably benign	0.14
R4949:Nt5el	UTSW	13	105,246,214 (GRCm39)	missense	probably damaging	1.00
R6242:Nt5el	UTSW	13	105,246,048 (GRCm39)	missense	probably benign	0.00
R6376:Nt5el	UTSW	13	105,256,473 (GRCm39)	missense	possibly damaging	0.95
R6615:Nt5el	UTSW	13	105,248,993 (GRCm39)	missense	probably damaging	1.00
R7610:Nt5el	UTSW	13	105,247,695 (GRCm39)	missense	probably damaging	1.00
R7773:Nt5el	UTSW	13	105,218,793 (GRCm39)	missense	probably damaging	1.00
R7985:Nt5el	UTSW	13	105,256,482 (GRCm39)	missense	probably benign	0.22
R8171:Nt5el	UTSW	13	105,246,291 (GRCm39)	missense	probably benign	0.26
R8429:Nt5el	UTSW	13	105,255,296 (GRCm39)	missense	probably damaging	1.00
R9339:Nt5el	UTSW	13	105,246,114 (GRCm39)	missense	probably benign	0.00
R9497:Nt5el	UTSW	13	105,236,987 (GRCm39)	missense	probably damaging	0.97
X0024:Nt5el	UTSW	13	105,249,019 (GRCm39)	missense	probably damaging	0.99
X0057:Nt5el	UTSW	13	105,218,759 (GRCm39)	missense	probably benign
Z1176:Nt5el	UTSW	13	105,247,652 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16