Mutagenetix > Incidental Mutation

Incidental Mutation 'R4353:Nt5el'

327431

Institutional Source

Beutler Lab

Gene Symbol

Nt5el

Ensembl Gene

ENSMUSG00000021718

Gene Name

5' nucleotidase, ecto-like

Synonyms

4933425L06Rik

MMRRC Submission

040866-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4353 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105218630-105258290 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105255253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 445 (Y445H)

Ref Sequence

ENSEMBL: ENSMUSP00000022232 (fasta)

Gene Model

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

AlphaFold

Q9D3Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000022232
AA Change: Y445H

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022232
Gene: ENSMUSG00000021718
AA Change: Y445H

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: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Alpk2	C	T	18: 65,424,523 (GRCm39)	R1888H	possibly damaging	Het
Arhgap33	C	A	7: 30,223,561 (GRCm39)	V823L	possibly damaging	Het
Atp2b2	T	C	6: 113,742,745 (GRCm39)	I736V	probably benign	Het
Atp8a1	T	C	5: 67,926,451 (GRCm39)	T260A	probably damaging	Het
B4galnt3	T	C	6: 120,192,437 (GRCm39)	E433G	possibly damaging	Het
Bzw2	A	T	12: 36,173,978 (GRCm39)	F99I	probably damaging	Het
Cdh20	A	G	1: 104,906,814 (GRCm39)	D547G	probably damaging	Het
Col27a1	G	T	4: 63,143,868 (GRCm39)	A519S	probably benign	Het
Coq6	G	A	12: 84,414,923 (GRCm39)	G110D	probably damaging	Het
Cpb1	T	C	3: 20,316,708 (GRCm39)	T281A	probably benign	Het
Cttnbp2	T	C	6: 18,514,703 (GRCm39)	D11G	probably benign	Het
Cyp2c37	A	G	19: 39,988,989 (GRCm39)	Y316C	possibly damaging	Het
Dcdc2a	T	A	13: 25,240,474 (GRCm39)	I74N	probably damaging	Het
Dhx9	A	G	1: 153,347,535 (GRCm39)	L391P	probably damaging	Het
Dsc2	G	T	18: 20,183,125 (GRCm39)	L98I	probably damaging	Het
Dthd1	T	A	5: 63,000,210 (GRCm39)	S511T	probably benign	Het
Dusp2	A	G	2: 127,179,256 (GRCm39)	T204A	probably damaging	Het
Elovl5	T	C	9: 77,868,199 (GRCm39)	V37A	probably benign	Het
Etv1	A	G	12: 38,907,105 (GRCm39)	E369G	probably damaging	Het
Gem	G	A	4: 11,705,939 (GRCm39)	R9H	probably damaging	Het
Heg1	A	G	16: 33,530,847 (GRCm39)	T108A	probably benign	Het
Inava	C	T	1: 136,153,946 (GRCm39)	V180I	probably damaging	Het
Iqgap2	C	T	13: 95,807,904 (GRCm39)	V788M	probably damaging	Het
Kyat3	T	C	3: 142,437,054 (GRCm39)		probably null	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Mecom	C	A	3: 30,020,887 (GRCm39)	V452L	possibly damaging	Het
Meis2	A	G	2: 115,890,044 (GRCm39)	M146T	probably damaging	Het
Nrp2	A	G	1: 62,777,576 (GRCm39)	D127G	probably damaging	Het
Nup214	T	C	2: 31,867,929 (GRCm39)		probably null	Het
Or2h1b	T	A	17: 37,462,228 (GRCm39)	I58F	probably damaging	Het
Pabpc4	C	T	4: 123,184,060 (GRCm39)	T191I	probably damaging	Het
Pcnx2	T	C	8: 126,489,590 (GRCm39)	H1668R	probably damaging	Het
Poln	C	T	5: 34,286,796 (GRCm39)	C124Y	probably benign	Het
Ppp2r2a	T	A	14: 67,266,386 (GRCm39)	I92L	probably damaging	Het
Prb1b	T	G	6: 132,290,624 (GRCm39)	Y25S	unknown	Het
Ptch1	C	T	13: 63,682,143 (GRCm39)	R537H	probably damaging	Het
Rnf130	T	C	11: 49,978,267 (GRCm39)	V276A	possibly damaging	Het
Rnf31	AAC	A	14: 55,838,555 (GRCm39)		probably null	Het
Rnf38	A	T	4: 44,149,100 (GRCm39)	N82K	possibly damaging	Het
Scn7a	T	A	2: 66,506,780 (GRCm39)	M1370L	probably benign	Het
Sema4b	C	A	7: 79,865,399 (GRCm39)	L125I	probably damaging	Het
Slc12a7	C	T	13: 73,938,853 (GRCm39)	T210I	possibly damaging	Het
Sox8	A	C	17: 25,786,309 (GRCm39)	*465G	probably null	Het
Spg11	G	T	2: 121,943,675 (GRCm39)	T159K	possibly damaging	Het
Stk36	A	G	1: 74,671,966 (GRCm39)	R889G	possibly damaging	Het
Tmbim7	A	G	5: 3,711,796 (GRCm39)	S14G	probably benign	Het
Usp16	A	G	16: 87,267,242 (GRCm39)	N211D	probably damaging	Het
Vmn1r6	C	T	6: 56,979,677 (GRCm39)	A113V	possibly damaging	Het
Zc3h14	A	G	12: 98,730,219 (GRCm39)	N92D	possibly damaging	Het
Zfp638	T	C	6: 83,961,041 (GRCm39)	S1206P	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
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'- GACCAAGTCTAGCATTCTCTCAC -3'
(R):5'- AGGGCCTGTACTTTTACATCTG -3'

Sequencing Primer
(F):5'- CACTTCTGATTAGTGTGGTGCAGAAC -3'
(R):5'- CAGTGTAATTGTGCTTGTATACCATG -3'

Posted On

2015-07-07