Incidental Mutation 'R2289:Nle1'
ID |
244222 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nle1
|
Ensembl Gene |
ENSMUSG00000020692 |
Gene Name |
notchless homolog 1 |
Synonyms |
l11Jus4, Nle, l11Jus1, notchless |
MMRRC Submission |
040288-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2289 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
82791594-82799237 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 82793879 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 386
(I386F)
|
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: I386F
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000099502 Gene: ENSMUSG00000020692 AA Change: I386F
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp12a |
G |
A |
14: 56,610,719 (GRCm39) |
V288I |
possibly damaging |
Het |
Cntn6 |
C |
T |
6: 104,545,989 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cplx3 |
T |
A |
9: 57,520,941 (GRCm39) |
E220V |
possibly damaging |
Het |
Cracdl |
T |
C |
1: 37,651,342 (GRCm39) |
K1175R |
possibly damaging |
Het |
Dcaf10 |
T |
A |
4: 45,359,816 (GRCm39) |
W244R |
probably damaging |
Het |
Dixdc1 |
A |
G |
9: 50,595,172 (GRCm39) |
|
probably null |
Het |
Dlg4 |
T |
A |
11: 69,917,752 (GRCm39) |
Y12N |
probably damaging |
Het |
Fsd1l |
T |
A |
4: 53,696,931 (GRCm39) |
Y442N |
possibly damaging |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Hcrt |
C |
A |
11: 100,652,745 (GRCm39) |
A90S |
probably damaging |
Het |
Itga6 |
T |
A |
2: 71,648,873 (GRCm39) |
V119D |
probably damaging |
Het |
Klrh1 |
T |
C |
6: 129,745,140 (GRCm39) |
N152S |
probably null |
Het |
Lmtk2 |
T |
A |
5: 144,112,924 (GRCm39) |
S1215T |
possibly damaging |
Het |
Loxl2 |
G |
A |
14: 69,930,524 (GRCm39) |
E763K |
probably benign |
Het |
Mcrip1 |
T |
C |
11: 120,435,530 (GRCm39) |
E35G |
probably damaging |
Het |
Nqo1 |
T |
C |
8: 108,119,630 (GRCm39) |
I8V |
probably benign |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Pax8 |
T |
C |
2: 24,330,752 (GRCm39) |
D227G |
probably benign |
Het |
Phf14 |
T |
C |
6: 12,047,845 (GRCm39) |
C885R |
probably damaging |
Het |
Rhobtb3 |
A |
C |
13: 76,059,046 (GRCm39) |
C251G |
probably damaging |
Het |
Samd13 |
C |
T |
3: 146,368,446 (GRCm39) |
A49T |
probably damaging |
Het |
Snrpa1 |
T |
A |
7: 65,713,586 (GRCm39) |
V101E |
probably benign |
Het |
Styx |
A |
G |
14: 45,592,404 (GRCm39) |
E20G |
possibly damaging |
Het |
Thoc1 |
T |
C |
18: 9,984,488 (GRCm39) |
Y325H |
probably damaging |
Het |
Tmem163 |
T |
A |
1: 127,423,477 (GRCm39) |
T262S |
possibly damaging |
Het |
Tsr1 |
T |
G |
11: 74,790,111 (GRCm39) |
L102R |
probably damaging |
Het |
Vash1 |
G |
C |
12: 86,726,952 (GRCm39) |
R64P |
probably damaging |
Het |
Vps13b |
A |
C |
15: 35,572,251 (GRCm39) |
D956A |
probably damaging |
Het |
Vrk1 |
G |
A |
12: 106,024,120 (GRCm39) |
G199S |
probably damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
Zfp870 |
A |
T |
17: 33,102,334 (GRCm39) |
S333T |
probably benign |
Het |
Zranb1 |
T |
C |
7: 132,551,768 (GRCm39) |
Y140H |
probably damaging |
Het |
Zscan4b |
A |
G |
7: 10,635,789 (GRCm39) |
|
probably null |
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 |
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 |
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'- CTCCAAATTCAGTGCTGAGGTG -3'
(R):5'- AGTCACATAGCCAGTATCTGACC -3'
Sequencing Primer
(F):5'- GAGGGGTCTCTGTGTCAGAAG -3'
(R):5'- TAGCCAGTATCTGACCACGTC -3'
|
Posted On |
2014-10-30 |