Mutagenetix > Incidental Mutation

Incidental Mutation 'R7610:Nt5el'

588563

Institutional Source

Beutler Lab

Gene Symbol

Nt5el

Ensembl Gene

ENSMUSG00000021718

Gene Name

5' nucleotidase, ecto-like

Synonyms

4933425L06Rik

MMRRC Submission

045679-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7610 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105218630-105258290 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105247695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 338 (N338K)

Ref Sequence

ENSEMBL: ENSMUSP00000022232 (fasta)

Gene Model

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

AlphaFold

Q9D3Z8

Predicted Effect

probably damaging
Transcript: ENSMUST00000022232
AA Change: N338K

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

SMART Domains

Protein: ENSMUSP00000022232
Gene: ENSMUSG00000021718
AA Change: N338K

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adtrp	A	G	13: 41,969,670 (GRCm39)	F110L	probably benign	Het
Akap9	T	G	5: 4,007,677 (GRCm39)	D230E	possibly damaging	Het
Alg11	G	A	8: 22,555,147 (GRCm39)	R136H	probably damaging	Het
Ank3	A	T	10: 69,822,252 (GRCm39)	N307I		Het
Ankrd17	A	G	5: 90,380,222 (GRCm39)	S2489P	possibly damaging	Het
Asf1b	T	G	8: 84,691,678 (GRCm39)	I43S	probably damaging	Het
Cdc37l1	G	T	19: 28,985,132 (GRCm39)	G261W	possibly damaging	Het
Cpped1	C	A	16: 11,712,742 (GRCm39)		probably null	Het
Ctsk	T	C	3: 95,408,155 (GRCm39)	F4L	probably benign	Het
D130043K22Rik	A	T	13: 25,059,985 (GRCm39)	T619S	probably benign	Het
Ddx25	T	A	9: 35,465,893 (GRCm39)	L109F	possibly damaging	Het
Dhrs9	C	A	2: 69,223,291 (GRCm39)	A13D	unknown	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Fam228a	A	G	12: 4,781,423 (GRCm39)		probably null	Het
Fancm	T	C	12: 65,152,454 (GRCm39)	V970A	probably damaging	Het
Fcrl2	C	A	3: 87,160,004 (GRCm39)	V417F	probably damaging	Het
Fig4	C	A	10: 41,129,709 (GRCm39)	A504S	probably damaging	Het
Frmpd1	T	C	4: 45,279,098 (GRCm39)	S608P	probably damaging	Het
Ggta1	C	T	2: 35,304,230 (GRCm39)		probably null	Het
Grb10	T	C	11: 11,893,955 (GRCm39)	K377R	probably benign	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Klf14	A	G	6: 30,935,005 (GRCm39)	S210P	probably damaging	Het
Mcm3ap	A	G	10: 76,332,554 (GRCm39)		probably null	Het
Mgrn1	T	C	16: 4,752,097 (GRCm39)	*533Q	probably null	Het
Mtarc2	A	G	1: 184,551,483 (GRCm39)	Y318H	probably benign	Het
Notch1	A	T	2: 26,368,191 (GRCm39)	H598Q	probably benign	Het
Ntng1	A	G	3: 109,842,141 (GRCm39)	S211P	probably damaging	Het
Or13a21	A	T	7: 139,999,466 (GRCm39)	C73*	probably null	Het
Or8i2	A	G	2: 86,852,141 (GRCm39)	V249A	possibly damaging	Het
Pgm5	A	C	19: 24,812,120 (GRCm39)	N137K	probably damaging	Het
Plcb2	T	A	2: 118,550,240 (GRCm39)	N172I	possibly damaging	Het
Pramel26	A	T	4: 143,539,436 (GRCm39)	M19K	probably damaging	Het
Rab11fip1	G	A	8: 27,642,064 (GRCm39)	H912Y	probably benign	Het
Rgl1	A	G	1: 152,428,371 (GRCm39)	V251A	probably damaging	Het
Rgs6	T	C	12: 83,138,553 (GRCm39)	Y296H	probably damaging	Het
Rhpn1	A	G	15: 75,584,245 (GRCm39)	T446A	unknown	Het
Rtn3	A	G	19: 7,435,294 (GRCm39)	S233P	probably damaging	Het
Rwdd1	A	C	10: 33,877,134 (GRCm39)	D203E	probably benign	Het
Samd9l	A	G	6: 3,376,754 (GRCm39)	V169A	probably benign	Het
Slfn5	T	C	11: 82,852,310 (GRCm39)	L812P	probably damaging	Het
Smc1b	T	C	15: 84,955,021 (GRCm39)	D1077G	possibly damaging	Het
Snrnp48	A	G	13: 38,393,937 (GRCm39)	R81G	probably damaging	Het
Syt17	A	T	7: 118,033,682 (GRCm39)		probably null	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Ttc3	T	C	16: 94,228,697 (GRCm39)	I757T	probably benign	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Wdr54	C	T	6: 83,129,839 (GRCm39)	V305M	possibly damaging	Het
Xirp2	C	T	2: 67,356,306 (GRCm39)	T3689I	possibly damaging	Het
Zscan18	T	C	7: 12,503,237 (GRCm39)	K774R	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
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
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'- CTGTGACATGGAAAAGAAGAGTTCC -3'
(R):5'- GCAGATGGGTTGGTGAACTC -3'

Sequencing Primer
(F):5'- AGAGTTCCAGTAAATTCTTTGGATG -3'
(R):5'- TGGTGAACTCATGCAATTAATAACG -3'

Posted On

2019-10-24