Incidental Mutation 'IGL03019:Lce1k'
| ID |
407988 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lce1k
|
| Ensembl Gene |
ENSMUSG00000095870 |
| Gene Name |
late cornified envelope 1K |
| Synonyms |
Sprrl6, Gm7055 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.228)
|
| Stock # |
IGL03019
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
92713598-92715198 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 92714086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 33
(C33G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137052
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179917]
|
| AlphaFold |
J3QP15 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000179917
AA Change: C33G
|
| SMART Domains |
Protein: ENSMUSP00000137052
Gene: ENSMUSG00000095870
AA Change: C33G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LCE
|
22 |
62 |
3e-10 |
PFAM |
|
Pfam:LCE
|
59 |
125 |
1.9e-12 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr2 |
T |
A |
9: 121,738,248 (GRCm39) |
Y208N |
probably benign |
Het |
| Agap2 |
T |
C |
10: 126,927,431 (GRCm39) |
|
probably benign |
Het |
| Arhgap21 |
A |
T |
2: 20,865,874 (GRCm39) |
I914N |
probably damaging |
Het |
| Brsk1 |
T |
C |
7: 4,713,496 (GRCm39) |
|
probably benign |
Het |
| Cachd1 |
A |
T |
4: 100,809,282 (GRCm39) |
T256S |
probably damaging |
Het |
| Ccdc171 |
G |
T |
4: 83,713,545 (GRCm39) |
G1195W |
probably damaging |
Het |
| Cept1 |
A |
G |
3: 106,411,957 (GRCm39) |
M339T |
probably damaging |
Het |
| Cir1 |
T |
C |
2: 73,116,692 (GRCm39) |
K223E |
unknown |
Het |
| Cited2 |
A |
T |
10: 17,599,910 (GRCm39) |
M73L |
probably benign |
Het |
| Drg2 |
T |
C |
11: 60,347,421 (GRCm39) |
Y37H |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,846,185 (GRCm39) |
L440P |
probably damaging |
Het |
| Dsc1 |
G |
A |
18: 20,221,421 (GRCm39) |
P685S |
probably benign |
Het |
| Epha1 |
T |
A |
6: 42,339,686 (GRCm39) |
D639V |
probably damaging |
Het |
| Inka2 |
G |
T |
3: 105,623,687 (GRCm39) |
M1I |
probably null |
Het |
| Izumo4 |
A |
G |
10: 80,539,680 (GRCm39) |
|
probably benign |
Het |
| Kcnmb2 |
A |
T |
3: 32,252,299 (GRCm39) |
R167W |
probably damaging |
Het |
| Map7 |
C |
T |
10: 20,143,101 (GRCm39) |
P417S |
unknown |
Het |
| Myo18b |
A |
G |
5: 112,840,263 (GRCm39) |
V2510A |
probably benign |
Het |
| Rubcn |
A |
T |
16: 32,647,077 (GRCm39) |
V787D |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,206,227 (GRCm39) |
L800Q |
unknown |
Het |
| Zfp276 |
C |
A |
8: 123,994,673 (GRCm39) |
T580N |
probably damaging |
Het |
| Zfp354c |
G |
T |
11: 50,708,021 (GRCm39) |
P60T |
probably damaging |
Het |
|
| Other mutations in Lce1k |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02733:Lce1k
|
APN |
3 |
92,714,192 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1990:Lce1k
|
UTSW |
3 |
92,714,125 (GRCm39) |
missense |
unknown |
|
|
R1991:Lce1k
|
UTSW |
3 |
92,714,125 (GRCm39) |
missense |
unknown |
|
|
R1992:Lce1k
|
UTSW |
3 |
92,714,125 (GRCm39) |
missense |
unknown |
|
|
R2024:Lce1k
|
UTSW |
3 |
92,713,809 (GRCm39) |
missense |
unknown |
|
|
R2065:Lce1k
|
UTSW |
3 |
92,714,164 (GRCm39) |
nonsense |
probably null |
|
|
R2361:Lce1k
|
UTSW |
3 |
92,713,891 (GRCm39) |
missense |
unknown |
|
|
R2906:Lce1k
|
UTSW |
3 |
92,713,882 (GRCm39) |
missense |
unknown |
|
|
R4688:Lce1k
|
UTSW |
3 |
92,713,951 (GRCm39) |
missense |
unknown |
|
|
R4902:Lce1k
|
UTSW |
3 |
92,714,134 (GRCm39) |
missense |
unknown |
|
|
R7405:Lce1k
|
UTSW |
3 |
92,714,181 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8917:Lce1k
|
UTSW |
3 |
92,714,097 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation