Incidental Mutation 'IGL03170:Nle1'
| ID |
411795 |
| 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 # |
IGL03170
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
82791594-82799237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82795096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 312
(T312S)
|
| 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: T312S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099502
Gene: ENSMUSG00000020692
AA Change: T312S
| 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 |
unknown
Transcript: ENSMUST00000167196
AA Change: T7S
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cand2 |
A |
G |
6: 115,774,861 (GRCm39) |
D1023G |
probably damaging |
Het |
| Ccn1 |
C |
A |
3: 145,355,514 (GRCm39) |
A12S |
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,060,809 (GRCm39) |
|
probably null |
Het |
| Cyp4f37 |
C |
T |
17: 32,844,093 (GRCm39) |
|
probably benign |
Het |
| Entpd2 |
T |
C |
2: 25,289,493 (GRCm39) |
F325S |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,818,261 (GRCm38) |
I37T |
possibly damaging |
Het |
| Gtpbp10 |
A |
G |
5: 5,605,355 (GRCm39) |
V116A |
probably benign |
Het |
| H2-T9 |
C |
T |
17: 36,439,605 (GRCm39) |
G125E |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,587,456 (GRCm39) |
N164I |
unknown |
Het |
| Or10ab5 |
T |
C |
7: 108,245,307 (GRCm39) |
I159V |
probably benign |
Het |
| Pim1 |
T |
A |
17: 29,710,152 (GRCm39) |
L12Q |
possibly damaging |
Het |
| Plb1 |
G |
T |
5: 32,442,246 (GRCm39) |
C246F |
probably damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,557,033 (GRCm39) |
|
probably benign |
Het |
| Prl6a1 |
T |
A |
13: 27,499,406 (GRCm39) |
V63D |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 22,959,766 (GRCm39) |
A88T |
probably benign |
Het |
| Ranbp3l |
A |
T |
15: 9,029,611 (GRCm39) |
E31V |
probably damaging |
Het |
| Relch |
C |
T |
1: 105,663,680 (GRCm39) |
T943I |
probably damaging |
Het |
| Rgs9 |
G |
A |
11: 109,150,681 (GRCm39) |
T209I |
probably benign |
Het |
| Smg8 |
A |
G |
11: 86,977,434 (GRCm39) |
V49A |
probably damaging |
Het |
| Smim6 |
A |
T |
11: 115,804,314 (GRCm39) |
T34S |
possibly damaging |
Het |
| Snw1 |
T |
G |
12: 87,519,022 (GRCm39) |
T4P |
probably benign |
Het |
| Sod2 |
C |
A |
17: 13,227,257 (GRCm39) |
H70Q |
probably benign |
Het |
| Tro |
A |
G |
X: 149,438,556 (GRCm39) |
S34P |
probably benign |
Het |
| Tshr |
T |
A |
12: 91,504,643 (GRCm39) |
M527K |
probably damaging |
Het |
| Uggt1 |
A |
C |
1: 36,202,342 (GRCm39) |
V1085G |
probably damaging |
Het |
| Vmn1r21 |
A |
G |
6: 57,820,847 (GRCm39) |
V199A |
probably damaging |
Het |
| Xkr9 |
T |
C |
1: 13,771,036 (GRCm39) |
I184T |
possibly damaging |
Het |
| Zfp369 |
T |
C |
13: 65,442,224 (GRCm39) |
S273P |
probably damaging |
Het |
| Zpld2 |
C |
T |
4: 133,920,345 (GRCm39) |
V607I |
possibly 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 |
|
|
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 |
2016-08-02 |
Incidental Mutation