Mutagenetix > Incidental Mutation

Incidental Mutation 'R1631:Nt5el'

172812

Institutional Source

Beutler Lab

Gene Symbol

Nt5el

Ensembl Gene

ENSMUSG00000021718

Gene Name

5' nucleotidase, ecto-like

Synonyms

4933425L06Rik

MMRRC Submission

039668-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1631 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105218630-105258290 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 105218749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 28 (Q28K)

Ref Sequence

ENSEMBL: ENSMUSP00000022232 (fasta)

Gene Model

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

AlphaFold

Q9D3Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000022232
AA Change: Q28K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022232
Gene: ENSMUSG00000021718
AA Change: Q28K

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

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 93.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	T	A	17: 33,756,316 (GRCm39)	S320T	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Als2	T	C	1: 59,257,226 (GRCm39)	E12G	probably benign	Het
Arhgef10	A	T	8: 14,997,157 (GRCm39)	D321V	probably damaging	Het
Atp8a1	T	G	5: 67,906,395 (GRCm39)		probably null	Het
Avil	A	G	10: 126,846,494 (GRCm39)		probably null	Het
C2cd3	G	A	7: 100,021,704 (GRCm39)		probably null	Het
Cdhr18	C	T	14: 13,829,796 (GRCm38)	E649K	probably damaging	Het
Col18a1	G	A	10: 76,895,131 (GRCm39)	P1177S	probably damaging	Het
Copb2	T	A	9: 98,462,213 (GRCm39)	F428L	probably benign	Het
Cpa1	A	G	6: 30,640,923 (GRCm39)	E138G	probably damaging	Het
Ctsm	T	C	13: 61,686,249 (GRCm39)	I12V	possibly damaging	Het
Dctn1	A	G	6: 83,174,578 (GRCm39)	Q967R	possibly damaging	Het
Dok2	T	C	14: 71,014,393 (GRCm39)	Y194H	probably damaging	Het
Ezh2	C	T	6: 47,554,592 (GRCm39)	M1I	probably null	Het
Fkbp8	T	A	8: 70,984,282 (GRCm39)	L210Q	probably damaging	Het
Fpr1	T	A	17: 18,097,263 (GRCm39)	Q242L	probably benign	Het
Gal3st2b	T	A	1: 93,868,505 (GRCm39)	D243E	probably damaging	Het
Gm5422	A	G	10: 31,125,802 (GRCm39)		noncoding transcript	Het
Gucy1a2	A	G	9: 3,533,052 (GRCm39)	N84D	probably damaging	Het
Hsd3b5	A	C	3: 98,529,393 (GRCm39)	V79G	probably damaging	Het
Htr6	A	T	4: 138,788,804 (GRCm39)	V417E	probably benign	Het
Ifnar2	G	A	16: 91,188,755 (GRCm39)	V79I	probably benign	Het
Ighv10-1	T	C	12: 114,443,102 (GRCm39)		probably benign	Het
Itpr2	A	G	6: 146,081,788 (GRCm39)	F182L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lama3	A	G	18: 12,540,551 (GRCm39)	Y285C	probably damaging	Het
Lamc2	C	A	1: 153,034,680 (GRCm39)	V108L	possibly damaging	Het
Lrrc14b	A	G	13: 74,509,373 (GRCm39)		probably null	Het
Magi3	T	C	3: 103,958,493 (GRCm39)	T531A	probably benign	Het
Mapre2	A	G	18: 23,966,011 (GRCm39)	Y32C	probably damaging	Het
Med1	C	T	11: 98,046,452 (GRCm39)		probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Or10a3b	A	C	7: 108,445,064 (GRCm39)	L51R	probably damaging	Het
Or51h1	A	G	7: 102,308,408 (GRCm39)	I127V	probably damaging	Het
Or5h23	G	A	16: 58,906,408 (GRCm39)	T146I	probably benign	Het
Or7a35	A	T	10: 78,853,239 (GRCm39)	I28L	probably benign	Het
Pde1b	A	G	15: 103,430,099 (GRCm39)	T143A	probably damaging	Het
Pkhd1	T	C	1: 20,593,121 (GRCm39)	D1664G	probably benign	Het
Plod3	C	T	5: 137,017,847 (GRCm39)	R208W	probably damaging	Het
Pstk	G	A	7: 130,986,271 (GRCm39)	A277T	possibly damaging	Het
Qrich1	T	C	9: 108,411,684 (GRCm39)	V403A	probably damaging	Het
Rad21	C	A	15: 51,833,436 (GRCm39)	V348F	probably damaging	Het
Sacs	T	A	14: 61,448,181 (GRCm39)	L3409*	probably null	Het
Setd4	T	A	16: 93,390,136 (GRCm39)	K98*	probably null	Het
Skint5	A	G	4: 113,341,123 (GRCm39)	V1385A	probably benign	Het
Stam	C	A	2: 14,151,059 (GRCm39)	S472*	probably null	Het
Stx2	A	G	5: 129,069,289 (GRCm39)	F141L	probably damaging	Het
Tia1	A	G	6: 86,397,330 (GRCm39)	D101G	probably damaging	Het
Ttc21a	T	A	9: 119,783,228 (GRCm39)		probably null	Het
Usp34	T	A	11: 23,410,651 (GRCm39)	N2700K	probably damaging	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
IGL02447:Nt5el	APN	13	105,236,967 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- CCTTAGGCACAGTCAGGAAAGCAC -3'
(R):5'- ACCGGAGTTACTACCCAAGTCCAG -3'

Sequencing Primer
(F):5'- ATGCTCTGGCTGCCATC -3'
(R):5'- TAACACAGATGACTCCCTGCTTG -3'

Posted On

2014-04-24