Mutagenetix > Incidental Mutation

Incidental Mutation 'R8765:Nle1'

667842

Institutional Source

Beutler Lab

Gene Symbol

Nle1

Ensembl Gene

ENSMUSG00000020692

Gene Name

notchless homolog 1

Synonyms

l11Jus4, Nle, l11Jus1, notchless

MMRRC Submission

068599-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82791594-82799237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82793882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 385 (R385C)

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 damaging
Transcript: ENSMUST00000103213
AA Change: R385C

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

SMART Domains

Protein: ENSMUSP00000099502
Gene: ENSMUSG00000020692
AA Change: R385C

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

Meta Mutation Damage Score

0.7535

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,566,956 (GRCm39)	D452N	possibly damaging	Het
Actr1a	G	T	19: 46,372,787 (GRCm39)		probably benign	Het
Alox15	A	G	11: 70,240,819 (GRCm39)	V187A	probably benign	Het
Alpk1	A	T	3: 127,466,118 (GRCm39)	N1129K	probably damaging	Het
Angptl1	A	G	1: 156,684,727 (GRCm39)	N299D	probably benign	Het
Ank2	T	C	3: 126,850,731 (GRCm39)	T128A	possibly damaging	Het
Armh4	C	T	14: 49,920,100 (GRCm39)	R743K	probably damaging	Het
Arsj	G	A	3: 126,232,781 (GRCm39)	R509K	probably benign	Het
Atp6v0a2	G	A	5: 124,793,534 (GRCm39)	M630I	probably damaging	Het
BC107364	T	C	3: 96,341,751 (GRCm39)	H122R	unknown	Het
Bdh2	T	C	3: 134,996,841 (GRCm39)	M112T	probably benign	Het
C1qtnf3	G	A	15: 10,952,843 (GRCm39)		probably null	Het
Cables1	T	C	18: 12,056,422 (GRCm39)	L326P	probably benign	Het
Cacna1c	C	A	6: 118,580,844 (GRCm39)	A1769S		Het
Cacna2d2	T	C	9: 107,394,358 (GRCm39)	L567P	probably damaging	Het
Cacnb4	C	T	2: 52,327,001 (GRCm39)	R399H	probably damaging	Het
Cacng4	A	C	11: 107,625,976 (GRCm39)	I205S	probably damaging	Het
Ciz1	A	G	2: 32,260,895 (GRCm39)	K269E	probably damaging	Het
Csf1	A	G	3: 107,663,991 (GRCm39)	V35A	probably benign	Het
Csmd1	G	T	8: 16,760,627 (GRCm39)	Y169*	probably null	Het
Ctnna1	T	A	18: 35,384,293 (GRCm39)	M756K	probably damaging	Het
Dnah7b	T	A	1: 46,392,159 (GRCm39)	L3840Q	possibly damaging	Het
Fabp9	T	C	3: 10,258,813 (GRCm39)	*143W	probably null	Het
Fh1	C	T	1: 175,435,378 (GRCm39)		probably benign	Het
Fmo2	T	C	1: 162,707,966 (GRCm39)	T390A	probably benign	Het
Fsip1	G	T	2: 118,082,154 (GRCm39)	D93E	possibly damaging	Het
Golga5	A	G	12: 102,445,963 (GRCm39)	D406G	probably benign	Het
Gucy2d	C	A	7: 98,108,347 (GRCm39)	A760E	probably benign	Het
Hax1	T	C	3: 89,904,780 (GRCm39)	I141V	probably benign	Het
Hid1	T	A	11: 115,239,786 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,556,413 (GRCm39)	V2458I	probably damaging	Het
Igkv4-72	A	G	6: 69,203,894 (GRCm39)	V99A	probably benign	Het
Igkv5-39	G	A	6: 69,877,915 (GRCm39)	S16L	probably benign	Het
Ints4	T	A	7: 97,151,016 (GRCm39)	D294E	possibly damaging	Het
Lcn11	A	G	2: 25,668,139 (GRCm39)	Y99C	probably damaging	Het
Lrrc8b	G	A	5: 105,629,133 (GRCm39)	R493H	probably benign	Het
Mon1b	A	T	8: 114,362,881 (GRCm39)	D43V	possibly damaging	Het
Mrpl9	G	A	3: 94,355,129 (GRCm39)	V234I	possibly damaging	Het
Nek10	A	T	14: 14,999,104 (GRCm38)	E1034D	probably damaging	Het
Nfxl1	T	C	5: 72,686,443 (GRCm39)	H586R	probably benign	Het
Nit2	T	A	16: 56,979,832 (GRCm39)	D211V	probably benign	Het
Or10ak12	T	C	4: 118,666,159 (GRCm39)	T301A	probably benign	Het
Or1i2	C	T	10: 78,448,429 (GRCm39)	M15I	probably benign	Het
Or2a25	T	C	6: 42,889,102 (GRCm39)	V215A	probably benign	Het
Or2ab1	G	T	11: 58,488,785 (GRCm39)	V182F	possibly damaging	Het
Or6ae1	T	C	7: 139,742,467 (GRCm39)	H132R	probably benign	Het
Or6c213	A	G	10: 129,574,511 (GRCm39)	Y92H	probably damaging	Het
Pcdh10	T	C	3: 45,333,923 (GRCm39)	I79T	probably damaging	Het
Peg10	A	G	6: 4,754,492 (GRCm39)	D91G	unknown	Het
Plec	C	T	15: 76,066,045 (GRCm39)	A1342T	unknown	Het
Ppp2r3d	A	G	9: 124,439,649 (GRCm38)	V68A		Het
Pramel46	T	C	5: 95,419,447 (GRCm39)	M1V	probably null	Het
Psd3	A	T	8: 68,416,093 (GRCm39)	D315E	possibly damaging	Het
Rack1	A	G	11: 48,694,286 (GRCm39)	N162S	probably benign	Het
Slc12a8	C	A	16: 33,338,731 (GRCm39)	H11Q	possibly damaging	Het
Slc44a5	A	T	3: 153,968,561 (GRCm39)	D584V	probably damaging	Het
Spata18	T	C	5: 73,825,992 (GRCm39)	S100P		Het
Stap2	G	T	17: 56,310,145 (GRCm39)	S53R	probably damaging	Het
Timeless	T	C	10: 128,080,412 (GRCm39)		probably null	Het
Tlk1	A	T	2: 70,582,581 (GRCm39)	S183T	probably benign	Het
Tpp2	T	A	1: 44,011,849 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,654,663 (GRCm39)		probably benign	Het
Uri1	A	G	7: 37,696,145 (GRCm39)	V40A	probably benign	Het
Vmn1r15	T	C	6: 57,235,585 (GRCm39)	V151A	probably benign	Het
Vmn1r198	A	C	13: 22,539,269 (GRCm39)	I252L	probably damaging	Het
Vmn2r101	T	A	17: 19,809,245 (GRCm39)	W125R	probably damaging	Het
Wdr89	A	G	12: 75,679,688 (GRCm39)	S189P	probably damaging	Het
Zfp1006	T	C	8: 129,948,070 (GRCm39)	D49G	probably benign	Het
Zfp873	T	A	10: 81,896,072 (GRCm39)	C268S	probably damaging	Het
Zfp932	T	A	5: 110,154,827 (GRCm39)	D8E	probably benign	Het
Zfyve16	T	C	13: 92,658,055 (GRCm39)	R619G	probably benign	Het
Zswim2	A	T	2: 83,771,431 (GRCm39)	I31N	probably damaging	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
R7696:Nle1	UTSW	11	82,795,792 (GRCm39)	nonsense	probably null
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'- TCCAAATTCAGTGCTGAGGTG -3'
(R):5'- TCGGTCAGTCACATAGCCAG -3'

Sequencing Primer
(F):5'- AGGGGTCTCTGTGTCAGAAG -3'
(R):5'- GGTCAGTCACATAGCCAGTATCTG -3'

Posted On

2021-03-08