Mutagenetix > Incidental Mutation

Incidental Mutation 'R9020:Nle1'

686682

Institutional Source

Beutler Lab

Gene Symbol

Nle1

Ensembl Gene

ENSMUSG00000020692

Gene Name

notchless homolog 1

Synonyms

l11Jus4, Nle, l11Jus1, notchless

MMRRC Submission

068850-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9020 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82791594-82799237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 82797275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 146 (E146Q)

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: E146Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099502
Gene: ENSMUSG00000020692
AA Change: E146Q

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

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

probably benign
Transcript: ENSMUST00000167196

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (58/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	A	G	4: 106,605,615 (GRCm39)	S586P	probably damaging	Het
Adora3	T	A	3: 105,815,141 (GRCm39)	I297N	probably damaging	Het
Adrb3	A	T	8: 27,717,947 (GRCm39)	F167L	probably damaging	Het
Apob	A	G	12: 8,063,999 (GRCm39)	Y3955C	probably damaging	Het
Atp2a1	T	C	7: 126,046,135 (GRCm39)	D963G	probably benign	Het
Btbd10	T	C	7: 112,951,057 (GRCm39)	N11S	possibly damaging	Het
Casr	A	G	16: 36,315,611 (GRCm39)	S820P	probably damaging	Het
Ccdc82	C	T	9: 13,281,915 (GRCm39)	R447C	probably damaging	Het
Cfap44	T	A	16: 44,257,522 (GRCm39)	V1019E	probably damaging	Het
Cfap65	T	C	1: 74,959,552 (GRCm39)	E866G	probably damaging	Het
Chd4	T	A	6: 125,084,469 (GRCm39)	D713E	probably damaging	Het
Ctdsp1	T	C	1: 74,434,676 (GRCm39)	F240S	possibly damaging	Het
Cyp26b1	C	T	6: 84,552,056 (GRCm39)	V361I	probably benign	Het
Dmbt1	T	A	7: 130,712,787 (GRCm39)	I1597N	possibly damaging	Het
Dnajc25	C	A	4: 59,003,470 (GRCm39)	Y80*	probably null	Het
Fbxo17	A	T	7: 28,436,782 (GRCm39)	N246Y	possibly damaging	Het
Filip1l	A	G	16: 57,391,058 (GRCm39)	T549A	probably benign	Het
Gm9758	A	C	5: 14,964,739 (GRCm39)	N35K		Het
Gtf2i	T	C	5: 134,275,415 (GRCm39)	T707A	probably benign	Het
Ifnk	T	C	4: 35,152,573 (GRCm39)	V167A	probably damaging	Het
Iqch	T	C	9: 63,432,526 (GRCm39)	M290V	probably benign	Het
Irx1	A	T	13: 72,111,548 (GRCm39)	Y20*	probably null	Het
Jade2	T	A	11: 51,708,454 (GRCm39)	Q572L	probably benign	Het
Kcne4	T	A	1: 78,795,425 (GRCm39)	H24Q	probably benign	Het
Kcnq5	T	C	1: 21,539,463 (GRCm39)		probably benign	Het
Kcnt2	T	A	1: 140,512,049 (GRCm39)	V1068E	probably benign	Het
Klk1b27	T	A	7: 43,705,118 (GRCm39)	V95D	probably damaging	Het
Lins1	A	G	7: 66,357,961 (GRCm39)	D32G	probably damaging	Het
Mavs	A	G	2: 131,088,594 (GRCm39)	E466G	possibly damaging	Het
Mipep	T	A	14: 61,068,677 (GRCm39)	L483*	probably null	Het
Muc16	G	GAATGGCTTTCTT	9: 18,550,015 (GRCm39)		probably benign	Het
Myo1a	C	A	10: 127,549,992 (GRCm39)	Q491K	probably benign	Het
Nphp3	T	C	9: 103,909,150 (GRCm39)	Y787H	probably benign	Het
Pcdh15	A	G	10: 74,481,443 (GRCm39)	S263G	probably benign	Het
Pcdhb8	T	G	18: 37,489,837 (GRCm39)	I505S	probably damaging	Het
Phtf1	C	G	3: 103,898,694 (GRCm39)	S339*	probably null	Het
Pip5k1b	T	A	19: 24,327,585 (GRCm39)	I424F	probably benign	Het
Plxna4	T	A	6: 32,211,497 (GRCm39)	T681S	possibly damaging	Het
Prdm1	A	G	10: 44,316,036 (GRCm39)	L700P	probably damaging	Het
Prtg	C	T	9: 72,799,277 (GRCm39)	T769I	probably damaging	Het
Rasgrf2	A	G	13: 92,165,146 (GRCm39)	V340A	possibly damaging	Het
Ros1	T	A	10: 52,031,023 (GRCm39)	E548D	probably benign	Het
Rsph10b	G	A	5: 143,922,283 (GRCm39)	R823Q	probably benign	Het
Scgb1b3	A	G	7: 31,075,276 (GRCm39)	E42G	probably damaging	Het
Scyl2	T	C	10: 89,488,858 (GRCm39)	N486D	probably damaging	Het
Sdr9c7	T	A	10: 127,745,659 (GRCm39)	I257N	possibly damaging	Het
Serpinb9b	A	T	13: 33,223,887 (GRCm39)	I360F	probably damaging	Het
Slc15a5	T	A	6: 138,032,704 (GRCm39)	I217F	probably benign	Het
Steap2	T	C	5: 5,723,480 (GRCm39)	S467G	probably benign	Het
Sycp1	T	C	3: 102,783,653 (GRCm39)	K607R	probably benign	Het
Tek	C	G	4: 94,708,339 (GRCm39)	P350R	probably benign	Het
Tet3	T	C	6: 83,381,418 (GRCm39)	D250G	probably damaging	Het
Trip11	A	G	12: 101,850,770 (GRCm39)	V1098A	possibly damaging	Het
Tsc2	G	T	17: 24,845,691 (GRCm39)	T209K	probably damaging	Het
Ttc6	A	G	12: 57,752,366 (GRCm39)	Y1424C	probably damaging	Het
Uchl3	A	T	14: 101,903,986 (GRCm39)	K74N	probably damaging	Het
Usp10	T	G	8: 120,667,904 (GRCm39)	S68R	probably benign	Het
Wwp1	T	C	4: 19,650,282 (GRCm39)	I295V	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
R7696:Nle1	UTSW	11	82,795,792 (GRCm39)	nonsense	probably null
R8765:Nle1	UTSW	11	82,793,882 (GRCm39)	missense	probably damaging	1.00
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'- TTCAAGCTGTCCCTACAACCAG -3'
(R):5'- GGAATGGAGAGTCTGTTCCC -3'

Sequencing Primer
(F):5'- ACAACCAGTAGTTTAGCTCCTC -3'
(R):5'- CCAGAAGATGGTTGGCTAGGC -3'

Posted On

2021-11-19