Mutagenetix > Incidental Mutation

Incidental Mutation 'R7696:Nle1'

593669

Institutional Source

Beutler Lab

Gene Symbol

Nle1

Ensembl Gene

ENSMUSG00000020692

Gene Name

notchless homolog 1

Synonyms

l11Jus4, Nle, l11Jus1, notchless

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7696 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82791594-82799237 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 82795792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 218 (Y218*)

Ref Sequence

ENSEMBL: ENSMUSP00000099502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018988] [ENSMUST00000103213]

AlphaFold

Q8VEJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000018988

SMART Domains

Protein: ENSMUSP00000018988
Gene: ENSMUSG00000018844

Domain	Start	End	E-Value	Type
low complexity region	159	170	N/A	INTRINSIC
FN3	176	264	9.48e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000103213
AA Change: Y218*

SMART Domains

Protein: ENSMUSP00000099502
Gene: ENSMUSG00000020692
AA Change: Y218*

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Pfam:NLE	17	77	3.6e-15	PFAM
WD40	103	142	5.22e-12	SMART
WD40	145	184	1.48e-11	SMART
WD40	188	232	1.66e-5	SMART
WD40	235	273	3.11e-10	SMART
WD40	276	357	1.14e-3	SMART
WD40	361	400	8.81e-10	SMART
WD40	403	442	1.69e-11	SMART
WD40	445	484	9.44e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126202

SMART Domains

Protein: ENSMUSP00000130605
Gene: ENSMUSG00000020692

Domain	Start	End	E-Value	Type
SCOP:d1flga_	12	46	2e-5	SMART
Blast:WD40	22	48	2e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000167196

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display embryonic lethality before somite formation, most blastocysts fail to hatch out of the zona pellucida, and apoptosis is increased in the inner cell mass. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	C	T	15: 11,258,224 (GRCm39)	R512C	probably damaging	Het
Afap1l2	C	A	19: 56,902,918 (GRCm39)	V754L	probably damaging	Het
Atp5f1a	T	A	18: 77,868,686 (GRCm39)	I393N	probably damaging	Het
Bbs1	C	T	19: 4,941,017 (GRCm39)		probably null	Het
Bglap2	A	T	3: 88,285,923 (GRCm39)	L12Q	unknown	Het
Bsn	C	T	9: 107,991,700 (GRCm39)	V1351I	probably damaging	Het
Cbx1	T	C	11: 96,697,468 (GRCm39)	V147A	probably damaging	Het
Cep192	T	A	18: 67,953,434 (GRCm39)	S484T	probably damaging	Het
Col18a1	A	T	10: 76,921,106 (GRCm39)	I298K	unknown	Het
Cyp27a1	A	T	1: 74,771,198 (GRCm39)	I128L	probably benign	Het
Dhdds	C	T	4: 133,724,225 (GRCm39)	A30T	probably damaging	Het
Dnajc12	A	G	10: 63,242,911 (GRCm39)	N143S	probably benign	Het
Eno3	T	G	11: 70,552,809 (GRCm39)	N363K	probably benign	Het
Galnt10	T	A	11: 57,660,364 (GRCm39)	D267E	probably damaging	Het
Galr2	C	T	11: 116,173,993 (GRCm39)	R208C	probably damaging	Het
Hif3a	G	A	7: 16,788,712 (GRCm39)	R82C	unknown	Het
Hspg2	T	A	4: 137,239,277 (GRCm39)	F401L	possibly damaging	Het
Iars1	G	T	13: 49,860,214 (GRCm39)	W455L	probably damaging	Het
Irf1	C	T	11: 53,667,162 (GRCm39)	H294Y	probably benign	Het
Itgal	T	C	7: 126,929,356 (GRCm39)	L1091P	probably damaging	Het
Lrrc37a	T	G	11: 103,389,263 (GRCm39)	D2054A	probably benign	Het
Map3k2	T	A	18: 32,353,647 (GRCm39)	H472Q	probably benign	Het
Myo18b	T	C	5: 112,840,158 (GRCm39)	D2545G	probably damaging	Het
Pdlim5	A	T	3: 141,983,623 (GRCm39)	S377T	probably benign	Het
Plch1	A	T	3: 63,662,726 (GRCm39)	M259K	probably benign	Het
Pou6f1	A	G	15: 100,481,979 (GRCm39)	V268A	probably benign	Het
Prn	C	A	2: 131,788,365 (GRCm39)	L7I	unknown	Het
Prpf6	C	T	2: 181,250,035 (GRCm39)	A65V	possibly damaging	Het
Rarres1	A	T	3: 67,398,345 (GRCm39)	F138L	probably benign	Het
Ros1	C	T	10: 52,018,379 (GRCm39)	V781M	probably damaging	Het
Sec16a	C	A	2: 26,305,645 (GRCm39)		probably null	Het
Slc44a4	G	A	17: 35,147,676 (GRCm39)	G606D	probably damaging	Het
Slco1a4	A	T	6: 141,756,237 (GRCm39)	C538*	probably null	Het
Slco1c1	A	G	6: 141,513,336 (GRCm39)	Y537C	probably benign	Het
Speg	T	A	1: 75,405,805 (GRCm39)	L3003Q	probably damaging	Het
Ssr3	A	G	3: 65,299,886 (GRCm39)	S25P	probably benign	Het
Stard13	C	A	5: 150,984,267 (GRCm39)	R623L	probably damaging	Het
Tbc1d5	A	G	17: 51,181,605 (GRCm39)	I376T	probably damaging	Het
Tigd4	C	A	3: 84,502,224 (GRCm39)	F380L	possibly damaging	Het
Tmc4	T	C	7: 3,672,574 (GRCm39)	K489E	probably damaging	Het
Tmem114	C	T	16: 8,242,353 (GRCm39)	R55H	probably benign	Het
Tmem168	A	G	6: 13,602,937 (GRCm39)	I143T	probably benign	Het
Tmem87b	C	T	2: 128,683,237 (GRCm39)	T397I	probably damaging	Het
Tom1l1	C	A	11: 90,563,741 (GRCm39)	R173L	probably benign	Het
Trim10	G	A	17: 37,182,644 (GRCm39)	R170K	probably damaging	Het
Usp6nl	T	A	2: 6,429,134 (GRCm39)	Y222N	probably damaging	Het
Vmn2r26	A	T	6: 124,038,494 (GRCm39)	I690F	possibly damaging	Het
Zfp1006	A	G	8: 129,945,794 (GRCm39)	Y344H	probably benign	Het

Other mutations in Nle1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02226:Nle1	APN	11	82,795,133 (GRCm39)	nonsense	probably null
IGL02945:Nle1	APN	11	82,794,910 (GRCm39)	splice site	probably benign
IGL03170:Nle1	APN	11	82,795,096 (GRCm39)	missense	probably benign
R0401:Nle1	UTSW	11	82,796,205 (GRCm39)	unclassified	probably benign
R0646:Nle1	UTSW	11	82,795,671 (GRCm39)	missense	probably damaging	1.00
R1958:Nle1	UTSW	11	82,795,068 (GRCm39)	missense	probably benign	0.01
R1966:Nle1	UTSW	11	82,792,614 (GRCm39)	missense	probably damaging	1.00
R2016:Nle1	UTSW	11	82,796,373 (GRCm39)	missense	probably damaging	1.00
R2017:Nle1	UTSW	11	82,796,373 (GRCm39)	missense	probably damaging	1.00
R2049:Nle1	UTSW	11	82,796,192 (GRCm39)	missense	probably damaging	1.00
R2140:Nle1	UTSW	11	82,796,394 (GRCm39)	missense	probably damaging	0.99
R2289:Nle1	UTSW	11	82,793,879 (GRCm39)	missense	probably benign	0.01
R4354:Nle1	UTSW	11	82,797,257 (GRCm39)	missense	possibly damaging	0.65
R4963:Nle1	UTSW	11	82,795,763 (GRCm39)	missense	probably benign	0.04
R4964:Nle1	UTSW	11	82,799,018 (GRCm39)	missense	probably damaging	1.00
R5257:Nle1	UTSW	11	82,795,772 (GRCm39)	missense	probably damaging	1.00
R5258:Nle1	UTSW	11	82,795,772 (GRCm39)	missense	probably damaging	1.00
R5509:Nle1	UTSW	11	82,794,008 (GRCm39)	missense	possibly damaging	0.92
R6160:Nle1	UTSW	11	82,798,983 (GRCm39)	missense	probably benign	0.01
R7206:Nle1	UTSW	11	82,795,757 (GRCm39)	missense	probably benign	0.35
R8765:Nle1	UTSW	11	82,793,882 (GRCm39)	missense	probably damaging	1.00
R9020:Nle1	UTSW	11	82,797,275 (GRCm39)	missense	probably benign	0.01
R9800:Nle1	UTSW	11	82,793,876 (GRCm39)	missense	probably benign
Z1176:Nle1	UTSW	11	82,795,138 (GRCm39)	missense	probably damaging	1.00
Z1177:Nle1	UTSW	11	82,792,669 (GRCm39)	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- GCAGACTGGCTTCAGAATGC -3'
(R):5'- TACTATGGCCACACCCCTTG -3'

Sequencing Primer
(F):5'- AGAATGCCCCTTACGTCATGG -3'
(R):5'- AGCCTCGTTGAGTTCAGA -3'

Posted On

2019-11-12