Mutagenetix > Incidental Mutation

Incidental Mutation 'R6160:Nle1'

489821

Institutional Source

Beutler Lab

Gene Symbol

Nle1

Ensembl Gene

ENSMUSG00000020692

Gene Name

notchless homolog 1

Synonyms

l11Jus4, Nle, l11Jus1, notchless

MMRRC Submission

044307-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6160 (G1)

Quality Score

205.009

Status

Validated

Chromosome

Chromosomal Location

82791594-82799237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82798983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 33 (F33I)

Ref Sequence

ENSEMBL: ENSMUSP00000099502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018989] [ENSMUST00000103213] [ENSMUST00000108160] [ENSMUST00000164945]

AlphaFold

Q8VEJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000018989

SMART Domains

Protein: ENSMUSP00000018989
Gene: ENSMUSG00000018845

Domain	Start	End	E-Value	Type
TPR	6	39	1.02e1	SMART
TPR	43	76	7.47e0	SMART
TPR	77	110	2.52e-1	SMART
Blast:ARM	167	208	3e-16	BLAST
Blast:ARM	210	250	1e-10	BLAST
Pfam:UNC45-central	298	489	1.7e-41	PFAM
Blast:ARM	541	582	7e-7	BLAST
Blast:ARM	661	701	2e-14	BLAST
Blast:ARM	704	746	5e-11	BLAST
Blast:ARM	747	788	1e-20	BLAST
Blast:ARM	789	820	1e-11	BLAST
low complexity region	821	832	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103213
AA Change: F33I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000099502
Gene: ENSMUSG00000020692
AA Change: F33I

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: ENSMUST00000108160

SMART Domains

Protein: ENSMUSP00000103795
Gene: ENSMUSG00000018845

Domain	Start	End	E-Value	Type
TPR	6	39	1.02e1	SMART
TPR	43	76	7.47e0	SMART
TPR	77	110	2.52e-1	SMART
Blast:ARM	167	208	3e-16	BLAST
Blast:ARM	210	250	1e-10	BLAST
Pfam:UNC45-central	271	489	2.2e-52	PFAM
Blast:ARM	663	703	2e-14	BLAST
Blast:ARM	706	748	5e-11	BLAST
Blast:ARM	749	790	1e-20	BLAST
Blast:ARM	791	822	1e-11	BLAST
low complexity region	823	834	N/A	INTRINSIC

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

noncoding transcript
Transcript: ENSMUST00000140318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147915

Predicted Effect

probably benign
Transcript: ENSMUST00000164945

SMART Domains

Protein: ENSMUSP00000129405
Gene: ENSMUSG00000018845

Domain	Start	End	E-Value	Type
TPR	6	39	1.02e1	SMART
TPR	43	76	7.47e0	SMART
TPR	77	110	2.52e-1	SMART
Blast:ARM	167	208	3e-16	BLAST
Blast:ARM	210	250	1e-10	BLAST
Pfam:UNC45-central	298	489	1.7e-41	PFAM
Blast:ARM	663	703	2e-14	BLAST
Blast:ARM	706	748	5e-11	BLAST
Blast:ARM	749	790	1e-20	BLAST
Blast:ARM	791	822	1e-11	BLAST
low complexity region	823	834	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170815

Predicted Effect

probably benign
Transcript: ENSMUST00000167196

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

94% (62/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	A	7: 40,642,950 (GRCm39)	S297R	possibly damaging	Het
5530400C23Rik	A	G	6: 133,271,289 (GRCm39)	E111G	possibly damaging	Het
8030423J24Rik	T	A	13: 71,032,029 (GRCm39)	S34T	unknown	Het
Ace3	T	A	11: 105,885,558 (GRCm39)	W20R	possibly damaging	Het
Adgrf1	A	G	17: 43,621,578 (GRCm39)	E605G	probably damaging	Het
Arhgap44	G	A	11: 65,053,375 (GRCm39)		probably benign	Het
Atm	A	C	9: 53,402,259 (GRCm39)	H1404Q	probably benign	Het
AW209491	A	G	13: 14,811,306 (GRCm39)	E53G	probably damaging	Het
Bhmt1b	G	A	18: 87,775,245 (GRCm39)	C256Y	probably damaging	Het
Cdt1	C	T	8: 123,298,107 (GRCm39)	T366I	probably benign	Het
Cerk	A	T	15: 86,026,974 (GRCm39)	C179S	probably benign	Het
Cldn10	T	C	14: 119,099,255 (GRCm39)	V123A	possibly damaging	Het
Clip1	T	C	5: 123,751,604 (GRCm39)	K726E	possibly damaging	Het
Dcaf12	A	T	4: 41,294,043 (GRCm39)	Y365N	probably damaging	Het
Dennd6b	A	G	15: 89,073,024 (GRCm39)	L171P	probably damaging	Het
Dip2c	G	A	13: 9,583,290 (GRCm39)	V91I	probably benign	Het
Dlec1	A	G	9: 118,972,387 (GRCm39)	I1431V	probably benign	Het
Egln1	T	C	8: 125,675,231 (GRCm39)	D188G	probably damaging	Het
Enpp5	T	A	17: 44,392,259 (GRCm39)	N229K	possibly damaging	Het
Fmo1	T	G	1: 162,663,867 (GRCm39)	I221L	probably benign	Het
Fsip2	G	A	2: 82,818,289 (GRCm39)	W4674*	probably null	Het
Gm12185	G	A	11: 48,799,255 (GRCm39)	Q413*	probably null	Het
Gm7298	A	T	6: 121,741,886 (GRCm39)	H436L	probably benign	Het
Gucy2c	G	A	6: 136,717,684 (GRCm39)	Q430*	probably null	Het
Hgd	A	G	16: 37,433,660 (GRCm39)	H134R	probably damaging	Het
Hoxd8	A	G	2: 74,536,343 (GRCm39)	E151G	probably damaging	Het
Il15ra	A	G	2: 11,724,827 (GRCm39)	D99G	probably damaging	Het
Ints4	T	A	7: 97,158,790 (GRCm39)		probably null	Het
Itgb1	T	A	8: 129,446,764 (GRCm39)	F426L	possibly damaging	Het
Itpr1	A	C	6: 108,495,716 (GRCm39)	I2534L	probably benign	Het
Kcnq4	T	A	4: 120,573,756 (GRCm39)	H235L	probably damaging	Het
Kcnt1	T	A	2: 25,782,395 (GRCm39)	I178N	probably damaging	Het
Kidins220	A	G	12: 25,047,310 (GRCm39)	D252G	probably damaging	Het
Krt23	A	G	11: 99,376,544 (GRCm39)	I204T	probably damaging	Het
Lipo4	A	G	19: 33,480,693 (GRCm39)	L225P	probably damaging	Het
Lrp3	T	C	7: 34,903,548 (GRCm39)	D245G	possibly damaging	Het
Mmp16	A	G	4: 18,051,857 (GRCm39)	D282G	probably damaging	Het
Myo1c	A	T	11: 75,541,568 (GRCm39)	H18L	probably benign	Het
Myo1f	C	A	17: 33,823,318 (GRCm39)	P981Q	probably benign	Het
Nlrp4e	T	G	7: 23,020,731 (GRCm39)	M406R	probably damaging	Het
Obscn	A	T	11: 58,942,611 (GRCm39)	V4857E	probably damaging	Het
Palb2	A	T	7: 121,727,643 (GRCm39)		probably null	Het
Phospho1	A	T	11: 95,721,450 (GRCm39)	E22V	probably damaging	Het
Pom121l2	C	T	13: 22,167,838 (GRCm39)	S703L	possibly damaging	Het
Prex2	T	C	1: 11,064,075 (GRCm39)	L20P	probably damaging	Het
Psmb7	T	C	2: 38,533,393 (GRCm39)	T45A	probably damaging	Het
R3hdm2	T	C	10: 127,320,376 (GRCm39)	I532T	probably damaging	Het
Rcn1	T	C	2: 105,222,362 (GRCm39)	D208G	probably damaging	Het
Recql5	A	G	11: 115,823,613 (GRCm39)		probably null	Het
Resf1	G	A	6: 149,233,005 (GRCm39)		probably null	Het
Rfc4	A	T	16: 22,933,433 (GRCm39)	I242N	probably damaging	Het
Rims1	T	C	1: 22,503,235 (GRCm39)	Y650C	probably damaging	Het
Shc2	C	T	10: 79,462,853 (GRCm39)		probably null	Het
Slc14a2	A	T	18: 78,202,190 (GRCm39)		probably null	Het
Slc6a6	A	T	6: 91,716,995 (GRCm39)		probably null	Het
Synj2	C	A	17: 6,058,336 (GRCm39)	H275N	possibly damaging	Het
T	A	T	17: 8,660,618 (GRCm39)	T410S	probably benign	Het
Tars3	A	G	7: 65,332,527 (GRCm39)	I543V	probably benign	Het
Tbc1d8	T	A	1: 39,411,484 (GRCm39)	K1117N	probably damaging	Het
Tm7sf3	A	T	6: 146,507,787 (GRCm39)	L425*	probably null	Het
Trav14-3	A	G	14: 54,000,978 (GRCm39)	Y63C	probably damaging	Het
Tyro3	A	C	2: 119,633,751 (GRCm39)	D133A	probably damaging	Het
Vmn1r119	T	G	7: 20,745,740 (GRCm39)	H214P	possibly damaging	Het
Vmn2r120	G	A	17: 57,816,418 (GRCm39)	P646S	probably benign	Het
Zbtb7c	A	T	18: 76,278,904 (GRCm39)	Y454F	probably benign	Het
Zmym2	T	C	14: 57,187,766 (GRCm39)	L1144P	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
R7206:Nle1	UTSW	11	82,795,757 (GRCm39)	missense	probably benign	0.35
R7696:Nle1	UTSW	11	82,795,792 (GRCm39)	nonsense	probably null
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'- AGCCTGTCTGTAGGTGAGTC -3'
(R):5'- CGACATGGATTTAACGCTCCG -3'

Sequencing Primer
(F):5'- CGGCGCGGAGAACATTTTTC -3'
(R):5'- TGGTAGGTGTACGCGCAC -3'

Posted On

2017-10-10