Mutagenetix > Incidental Mutation

Incidental Mutation 'R4963:Nle1'

383735

Institutional Source

Beutler Lab

Gene Symbol

Nle1

Ensembl Gene

ENSMUSG00000020692

Gene Name

notchless homolog 1

Synonyms

notchless, Nle, l11Jus4, l11Jus1

MMRRC Submission

042560-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82900768-82908411 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82904937 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 228 (V228A)

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 benign
Transcript: ENSMUST00000103213
AA Change: V228A

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099502
Gene: ENSMUSG00000020692
AA Change: V228A

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

noncoding transcript
Transcript: ENSMUST00000124109

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: ENSMUST00000167196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170815

Meta Mutation Damage Score

0.2104

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (74/76)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,163,414	I133N	probably benign	Het
Abca15	T	C	7: 120,360,919	S642P	probably damaging	Het
Abcg5	G	T	17: 84,660,141	Y410*	probably null	Het
Anapc7	T	A	5: 122,422,606	M10K	probably damaging	Het
Ank2	G	A	3: 127,032,096	T418M	probably benign	Het
Arhgap17	T	C	7: 123,308,360	R260G	possibly damaging	Het
Atp1a3	T	C	7: 24,994,626	T381A	probably damaging	Het
Cep89	T	G	7: 35,403,152	S97A	probably benign	Het
Cyp2j11	T	C	4: 96,316,382	D309G	probably damaging	Het
Dcbld2	T	C	16: 58,465,782	I768T	probably benign	Het
Dgke	A	G	11: 89,050,802	V249A	possibly damaging	Het
Dnah9	T	C	11: 66,084,611		probably null	Het
Dnajc3	C	A	14: 118,978,173	H502N	probably benign	Het
Dsp	A	G	13: 38,197,870	T2265A	probably damaging	Het
Enpp6	A	G	8: 47,065,461	D208G	probably benign	Het
Evc	C	T	5: 37,322,049		probably null	Het
Fam98a	A	G	17: 75,538,982	S285P	probably damaging	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gm15293	C	T	8: 21,201,758	S52F	probably damaging	Het
Gsdmc	A	G	15: 63,804,380		probably null	Het
Gtpbp4	C	A	13: 8,985,217	D369Y	probably damaging	Het
H2-M1	A	G	17: 36,671,738	Y77H	probably benign	Het
Irx2	T	C	13: 72,632,610	V466A	possibly damaging	Het
Kcnh4	C	A	11: 100,752,253	W396L	probably damaging	Het
Kif27	T	C	13: 58,328,994	D614G	possibly damaging	Het
Kirrel2	C	A	7: 30,450,801		probably null	Het
Lcn5	A	G	2: 25,661,414	I182V	probably benign	Het
Ldb3	T	G	14: 34,566,858	S252R	probably damaging	Het
March8	G	A	6: 116,386,271		probably benign	Het
Mdn1	C	A	4: 32,756,512	Q4735K	probably benign	Het
Mfrp	A	T	9: 44,103,264	H236L	probably benign	Het
Mlph	A	G	1: 90,939,390	D378G	probably damaging	Het
Msi1	T	A	5: 115,450,885	Y320N	probably damaging	Het
Mtmr11	T	C	3: 96,163,250		probably benign	Het
Mtpap	T	C	18: 4,375,638	V6A	probably benign	Het
Nedd1	C	A	10: 92,695,031	D399Y	probably damaging	Het
Ninl	A	G	2: 150,939,909	Y234H	probably benign	Het
Nkx3-1	G	A	14: 69,190,918	G72S	probably benign	Het
Npy4r	T	A	14: 34,147,016	D105V	probably damaging	Het
Olfr1366	A	G	13: 21,537,982	Y8H	probably damaging	Het
Palld	C	T	8: 61,703,210	V464M	probably damaging	Het
Pclo	T	C	5: 14,669,221	V1124A	unknown	Het
Pex1	T	A	5: 3,609,924	M476K	probably benign	Het
Pkhd1l1	G	A	15: 44,504,025	S773N	probably benign	Het
Polrmt	A	G	10: 79,746,551	M1T	probably null	Het
Prmt9	A	G	8: 77,555,729	D85G	probably damaging	Het
Ptpn12	T	A	5: 21,015,708		probably null	Het
Rbm19	T	A	5: 120,141,566	M766K	probably damaging	Het
Rdh11	A	G	12: 79,188,606	V72A	probably benign	Het
Rxfp3	A	G	15: 11,036,281	V335A	probably damaging	Het
Sema6a	T	C	18: 47,298,251	K127E	possibly damaging	Het
Slc5a1	C	T	5: 33,160,782	T593I	probably benign	Het
Slco1a1	A	G	6: 141,923,099	F380L	probably benign	Het
Smc2	T	C	4: 52,450,826	S215P	probably damaging	Het
Smyd2	A	T	1: 189,882,188	V381E	probably damaging	Het
Smyd4	C	T	11: 75,382,294	S60L	probably benign	Het
Spata18	T	A	5: 73,678,993	V419E	probably damaging	Het
Terb1	A	G	8: 104,482,318	L376S	probably damaging	Het
Timd2	T	C	11: 46,682,790	E129G	possibly damaging	Het
Topbp1	C	A	9: 103,320,605	T461K	probably benign	Het
Tpp2	G	A	1: 43,992,268	R1069Q	probably damaging	Het
Ttn	A	G	2: 76,753,945	V22273A	probably damaging	Het
Tulp4	G	A	17: 6,198,813	E36K	probably damaging	Het
Uqcrfs1	A	T	13: 30,540,763	F265I	probably damaging	Het
Vmn2r107	A	T	17: 20,375,141	Q652L	probably damaging	Het
Vwf	C	T	6: 125,667,483	R2434*	probably null	Het
Wdhd1	A	G	14: 47,268,689	V256A	possibly damaging	Het
Zfp442	A	T	2: 150,408,495	C439S	probably damaging	Het
Zfp709	A	G	8: 71,889,788	T354A	probably benign	Het
Zswim2	A	T	2: 83,925,110	I149N	probably damaging	Het

Other mutations in Nle1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02226:Nle1	APN	11	82904307	nonsense	probably null
IGL02945:Nle1	APN	11	82904084	splice site	probably benign
IGL03170:Nle1	APN	11	82904270	missense	probably benign
R0401:Nle1	UTSW	11	82905379	unclassified	probably benign
R0646:Nle1	UTSW	11	82904845	missense	probably damaging	1.00
R1958:Nle1	UTSW	11	82904242	missense	probably benign	0.01
R1966:Nle1	UTSW	11	82901788	missense	probably damaging	1.00
R2016:Nle1	UTSW	11	82905547	missense	probably damaging	1.00
R2017:Nle1	UTSW	11	82905547	missense	probably damaging	1.00
R2049:Nle1	UTSW	11	82905366	missense	probably damaging	1.00
R2140:Nle1	UTSW	11	82905568	missense	probably damaging	0.99
R2289:Nle1	UTSW	11	82903053	missense	probably benign	0.01
R4354:Nle1	UTSW	11	82906431	missense	possibly damaging	0.65
R4964:Nle1	UTSW	11	82908192	missense	probably damaging	1.00
R5257:Nle1	UTSW	11	82904946	missense	probably damaging	1.00
R5258:Nle1	UTSW	11	82904946	missense	probably damaging	1.00
R5509:Nle1	UTSW	11	82903182	missense	possibly damaging	0.92
R6160:Nle1	UTSW	11	82908157	missense	probably benign	0.01
R7206:Nle1	UTSW	11	82904931	missense	probably benign	0.35
R7696:Nle1	UTSW	11	82904966	nonsense	probably null
R8765:Nle1	UTSW	11	82903056	missense	probably damaging	1.00
R9020:Nle1	UTSW	11	82906449	missense	probably benign	0.01
R9800:Nle1	UTSW	11	82903050	missense	probably benign
Z1176:Nle1	UTSW	11	82904312	missense	probably damaging	1.00
Z1177:Nle1	UTSW	11	82901843	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- TGGAAACACCAGACCCTCTG -3'
(R):5'- GCCTTGCTCTGCTGTTAGAAAG -3'

Sequencing Primer
(F):5'- GACCCTCTGATAACAAGTTTGC -3'
(R):5'- AGCTGTTAAGAGATTGTCCCCAGC -3'

Posted On

2016-04-27