Incidental Mutation 'R2361:Lce1k'
| ID |
247143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lce1k
|
| Ensembl Gene |
ENSMUSG00000095870 |
| Gene Name |
late cornified envelope 1K |
| Synonyms |
Sprrl6, Gm7055 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R2361 (G1)
|
| Quality Score |
189 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
92713598-92715198 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92713891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 98
(S98C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137052
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179917]
|
| AlphaFold |
J3QP15 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000179917
AA Change: S98C
|
| SMART Domains |
Protein: ENSMUSP00000137052
Gene: ENSMUSG00000095870
AA Change: S98C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LCE
|
22 |
62 |
3e-10 |
PFAM |
|
Pfam:LCE
|
59 |
125 |
1.9e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
G |
T |
18: 70,602,646 (GRCm39) |
Q56K |
probably damaging |
Het |
| Acrv1 |
A |
G |
9: 36,609,846 (GRCm39) |
N239S |
possibly damaging |
Het |
| Acss2 |
A |
G |
2: 155,400,589 (GRCm39) |
K543E |
probably damaging |
Het |
| Agbl3 |
A |
G |
6: 34,809,440 (GRCm39) |
D689G |
possibly damaging |
Het |
| Ass1 |
T |
C |
2: 31,410,394 (GRCm39) |
Y402H |
probably benign |
Het |
| Atr |
A |
G |
9: 95,753,210 (GRCm39) |
H683R |
probably benign |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Cacna1h |
C |
A |
17: 25,602,986 (GRCm39) |
V1445F |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Lrrc9 |
T |
C |
12: 72,510,244 (GRCm39) |
C448R |
possibly damaging |
Het |
| Map3k13 |
A |
G |
16: 21,725,286 (GRCm39) |
T420A |
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,048,379 (GRCm39) |
D1684G |
possibly damaging |
Het |
| Nacad |
T |
C |
11: 6,550,821 (GRCm39) |
H790R |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,361,524 (GRCm39) |
D164G |
possibly damaging |
Het |
| Nt5e |
T |
C |
9: 88,252,290 (GRCm39) |
S551P |
possibly damaging |
Het |
| Ptgs2 |
T |
C |
1: 149,979,726 (GRCm39) |
V277A |
probably benign |
Het |
| Slc34a2 |
T |
A |
5: 53,225,487 (GRCm39) |
F411L |
probably benign |
Het |
| Slc4a1 |
T |
C |
11: 102,247,656 (GRCm39) |
Y409C |
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 |
|
|
IGL03019:Lce1k
|
APN |
3 |
92,714,086 (GRCm39) |
missense |
unknown |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAACAAATTCTGAATCTCCACAG -3'
(R):5'- ATCTTCCTGCTGTAGCCTGG -3'
Sequencing Primer
(F):5'- TGTAGTGACCTACGCTTGAAAC -3'
(R):5'- CCTGCTGTAGCCTGGGTTCTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation