Incidental Mutation 'R4354:Nle1'
| ID |
327456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nle1
|
| Ensembl Gene |
ENSMUSG00000020692 |
| Gene Name |
notchless homolog 1 |
| Synonyms |
l11Jus4, Nle, l11Jus1, notchless |
| MMRRC Submission |
041107-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4354 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
82791594-82799237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82797257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 152
(C152R)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000103213
AA Change: C152R
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099502
Gene: ENSMUSG00000020692
AA Change: C152R
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000170815
|
| 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
|
| Meta Mutation Damage Score |
0.7611 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (37/38) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Abca8b |
A |
C |
11: 109,862,518 (GRCm39) |
S416A |
probably benign |
Het |
| Abcb4 |
A |
T |
5: 8,968,771 (GRCm39) |
N370I |
probably benign |
Het |
| Abi3bp |
T |
C |
16: 56,353,314 (GRCm39) |
F81S |
probably benign |
Het |
| Ablim1 |
C |
T |
19: 57,143,710 (GRCm39) |
C83Y |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,074,921 (GRCm39) |
H96L |
probably damaging |
Het |
| Alms1-ps1 |
C |
T |
6: 85,732,617 (GRCm39) |
|
noncoding transcript |
Het |
| AU040320 |
A |
G |
4: 126,748,192 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
T |
A |
17: 17,610,263 (GRCm39) |
H472Q |
probably benign |
Het |
| Chgb |
A |
T |
2: 132,635,864 (GRCm39) |
D602V |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,991,404 (GRCm39) |
T212A |
possibly damaging |
Het |
| Hspg2 |
C |
A |
4: 137,196,222 (GRCm39) |
A17E |
probably benign |
Het |
| Irf7 |
T |
C |
7: 140,845,183 (GRCm39) |
R8G |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,483,123 (GRCm39) |
Y1235H |
probably damaging |
Het |
| Mon2 |
T |
C |
10: 122,862,888 (GRCm39) |
T680A |
probably benign |
Het |
| Nab1 |
A |
T |
1: 52,529,855 (GRCm39) |
L14Q |
probably damaging |
Het |
| Neu4 |
C |
T |
1: 93,952,279 (GRCm39) |
T216I |
probably damaging |
Het |
| Nprl3 |
T |
A |
11: 32,184,906 (GRCm39) |
M368L |
probably benign |
Het |
| Nudt9 |
A |
G |
5: 104,205,977 (GRCm39) |
K129E |
probably damaging |
Het |
| Or5c1 |
T |
C |
2: 37,221,888 (GRCm39) |
L43P |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,333,913 (GRCm39) |
D36G |
probably benign |
Het |
| Pga5 |
C |
T |
19: 10,652,190 (GRCm39) |
|
probably null |
Het |
| Pold3 |
T |
C |
7: 99,749,824 (GRCm39) |
K47E |
possibly damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,843,378 (GRCm39) |
I251V |
probably benign |
Het |
| Susd2 |
G |
T |
10: 75,475,562 (GRCm39) |
F447L |
probably damaging |
Het |
| Tbc1d7 |
T |
C |
13: 43,323,344 (GRCm39) |
K16E |
probably damaging |
Het |
| Tlr8 |
T |
G |
X: 166,025,868 (GRCm39) |
Q994P |
probably damaging |
Het |
| Ube2j1 |
T |
C |
4: 33,049,682 (GRCm39) |
Y227H |
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 |
|
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'- GCAGAGCCTTTTCAAGCTGTC -3'
(R):5'- CCAGAAGATGGTTGGCTAGG -3'
Sequencing Primer
(F):5'- ACAACCAGTAGTTTAGCTCCTC -3'
(R):5'- CTAGGCAGCAGGAATACCCATG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation