Incidental Mutation 'IGL02226:Nle1'
| ID |
285338 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nle1
|
| Ensembl Gene |
ENSMUSG00000020692 |
| Gene Name |
notchless homolog 1 |
| Synonyms |
l11Jus4, Nle, l11Jus1, notchless |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02226
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
82791594-82799237 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 82795133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 299
(Y299*)
|
| 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 null
Transcript: ENSMUST00000103213
AA Change: Y299*
|
| SMART Domains |
Protein: ENSMUSP00000099502
Gene: ENSMUSG00000020692
AA Change: Y299*
| 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 |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
T |
C |
12: 53,057,250 (GRCm39) |
|
probably benign |
Het |
| Ankrd11 |
G |
A |
8: 123,618,984 (GRCm39) |
R1602W |
probably damaging |
Het |
| Arhgap23 |
G |
T |
11: 97,342,426 (GRCm39) |
R236L |
probably benign |
Het |
| Aurkaip1 |
T |
C |
4: 155,917,028 (GRCm39) |
V92A |
probably benign |
Het |
| Cdh20 |
A |
T |
1: 104,881,816 (GRCm39) |
|
probably benign |
Het |
| Ctnnd2 |
A |
G |
15: 30,847,482 (GRCm39) |
N691S |
probably benign |
Het |
| Ddx24 |
A |
C |
12: 103,390,717 (GRCm39) |
D2E |
possibly damaging |
Het |
| Dennd5b |
A |
G |
6: 148,934,799 (GRCm39) |
S691P |
probably benign |
Het |
| Dhrs3 |
C |
T |
4: 144,650,519 (GRCm39) |
R248W |
possibly damaging |
Het |
| Dlgap1 |
T |
C |
17: 70,823,029 (GRCm39) |
S5P |
probably damaging |
Het |
| Dnai4 |
A |
T |
4: 102,947,595 (GRCm39) |
I227K |
probably benign |
Het |
| Ep300 |
A |
T |
15: 81,497,613 (GRCm39) |
M510L |
unknown |
Het |
| Fbxo25 |
T |
C |
8: 13,973,922 (GRCm39) |
|
probably benign |
Het |
| Gm3252 |
A |
T |
14: 4,743,741 (GRCm38) |
K193M |
possibly damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,267,162 (GRCm39) |
|
probably null |
Het |
| Helz2 |
T |
C |
2: 180,873,483 (GRCm39) |
D2337G |
probably damaging |
Het |
| Idh1 |
A |
T |
1: 65,201,081 (GRCm39) |
M290K |
probably damaging |
Het |
| Layn |
T |
C |
9: 50,985,317 (GRCm39) |
S80G |
probably damaging |
Het |
| Ltbp4 |
C |
T |
7: 27,006,359 (GRCm39) |
E1440K |
probably damaging |
Het |
| Mri1 |
T |
C |
8: 84,982,924 (GRCm39) |
T166A |
probably damaging |
Het |
| Myod1 |
C |
T |
7: 46,027,730 (GRCm39) |
T290I |
probably benign |
Het |
| Nfat5 |
T |
A |
8: 108,078,154 (GRCm39) |
L431* |
probably null |
Het |
| Nlrp4c |
T |
A |
7: 6,069,828 (GRCm39) |
F576L |
possibly damaging |
Het |
| Nudt21 |
G |
T |
8: 94,746,329 (GRCm39) |
S123* |
probably null |
Het |
| Plekhg1 |
A |
C |
10: 3,895,916 (GRCm39) |
D436A |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,326,732 (GRCm39) |
V222A |
probably damaging |
Het |
| Ppp4r3c1 |
A |
C |
X: 88,975,518 (GRCm39) |
D226E |
probably damaging |
Het |
| Rbm14 |
A |
G |
19: 4,851,745 (GRCm39) |
|
probably benign |
Het |
| Scfd1 |
T |
A |
12: 51,436,164 (GRCm39) |
|
probably benign |
Het |
| Slc34a2 |
A |
G |
5: 53,225,073 (GRCm39) |
T405A |
probably benign |
Het |
| Slc39a9 |
T |
A |
12: 80,691,695 (GRCm39) |
M14K |
probably damaging |
Het |
| Slc39a9 |
G |
A |
12: 80,691,696 (GRCm39) |
M14I |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,679,334 (GRCm39) |
|
probably benign |
Het |
| Spen |
T |
C |
4: 141,205,457 (GRCm39) |
R1057G |
unknown |
Het |
| Sptbn4 |
T |
G |
7: 27,065,132 (GRCm39) |
T2056P |
probably damaging |
Het |
| Ssrp1 |
T |
C |
2: 84,870,705 (GRCm39) |
L148P |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,938,093 (GRCm39) |
H985L |
probably damaging |
Het |
| Tmem44 |
A |
G |
16: 30,358,199 (GRCm39) |
|
probably benign |
Het |
| Vmn2r116 |
T |
A |
17: 23,603,808 (GRCm39) |
L11Q |
probably null |
Het |
|
| Other mutations in Nle1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation