Incidental Mutation 'R2944:Lce1i'
| ID |
264614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lce1i
|
| Ensembl Gene |
ENSMUSG00000068888 |
| Gene Name |
late cornified envelope 1I |
| Synonyms |
2310069N01Rik |
| MMRRC Submission |
040518-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R2944 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
92684517-92686206 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 92685063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 38
(P38S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090866]
|
| AlphaFold |
Q9D6P5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000090866
AA Change: P38S
|
| SMART Domains |
Protein: ENSMUSP00000088379
Gene: ENSMUSG00000068888
AA Change: P38S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LCE
|
21 |
66 |
4.1e-11 |
PFAM |
|
Pfam:LCE
|
60 |
126 |
1.8e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
T |
C |
7: 133,577,236 (GRCm39) |
M179V |
probably null |
Het |
| Alms1 |
C |
T |
6: 85,605,373 (GRCm39) |
T2341I |
probably damaging |
Het |
| Bpnt1 |
A |
G |
1: 185,084,406 (GRCm39) |
T168A |
probably damaging |
Het |
| Cdcp2 |
A |
C |
4: 106,959,755 (GRCm39) |
S57R |
possibly damaging |
Het |
| Cmya5 |
T |
A |
13: 93,229,350 (GRCm39) |
K1913* |
probably null |
Het |
| Coro1c |
C |
G |
5: 113,988,861 (GRCm39) |
G161R |
probably damaging |
Het |
| Csnk1a1 |
T |
C |
18: 61,711,760 (GRCm39) |
M258T |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,550,333 (GRCm39) |
C3318R |
probably damaging |
Het |
| Fyco1 |
A |
T |
9: 123,655,713 (GRCm39) |
M1015K |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,020,196 (GRCm39) |
S290P |
probably damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
T |
A |
3: 90,088,852 (GRCm39) |
S1156T |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,234 (GRCm39) |
S263T |
possibly damaging |
Het |
| Sec14l5 |
T |
A |
16: 4,998,697 (GRCm39) |
I579N |
probably benign |
Het |
| Semp2l2a |
A |
T |
8: 13,887,212 (GRCm39) |
L293Q |
probably damaging |
Het |
| Sh3tc1 |
C |
A |
5: 35,871,504 (GRCm39) |
V107L |
probably damaging |
Het |
| Tmprss11a |
T |
G |
5: 86,576,511 (GRCm39) |
R113S |
probably benign |
Het |
| Trmt10b |
A |
G |
4: 45,300,445 (GRCm39) |
M1V |
probably null |
Het |
| Ush1c |
T |
C |
7: 45,850,406 (GRCm39) |
E791G |
probably damaging |
Het |
| Uspl1 |
T |
C |
5: 149,138,606 (GRCm39) |
L328P |
probably damaging |
Het |
| Utrn |
G |
T |
10: 12,519,163 (GRCm39) |
T2263K |
probably damaging |
Het |
|
| Other mutations in Lce1i |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00518:Lce1i
|
APN |
3 |
92,684,911 (GRCm39) |
missense |
unknown |
|
|
IGL03378:Lce1i
|
APN |
3 |
92,685,033 (GRCm39) |
missense |
unknown |
|
|
R1553:Lce1i
|
UTSW |
3 |
92,685,102 (GRCm39) |
missense |
unknown |
|
|
R4287:Lce1i
|
UTSW |
3 |
92,684,742 (GRCm39) |
missense |
unknown |
|
|
R5393:Lce1i
|
UTSW |
3 |
92,685,042 (GRCm39) |
missense |
unknown |
|
|
R5571:Lce1i
|
UTSW |
3 |
92,684,988 (GRCm39) |
missense |
unknown |
|
|
R5604:Lce1i
|
UTSW |
3 |
92,685,056 (GRCm39) |
missense |
unknown |
|
|
R7709:Lce1i
|
UTSW |
3 |
92,685,066 (GRCm39) |
missense |
unknown |
|
|
R9524:Lce1i
|
UTSW |
3 |
92,685,081 (GRCm39) |
missense |
unknown |
|
|
R9674:Lce1i
|
UTSW |
3 |
92,685,113 (GRCm39) |
missense |
unknown |
|
|
Z1088:Lce1i
|
UTSW |
3 |
92,684,596 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTACAGCATCCAGAGCTGTG -3'
(R):5'- ACTAATGCTTCTGTGAGGCCAG -3'
Sequencing Primer
(F):5'- ATCCAGAGCTGTGGCGATG -3'
(R):5'- AGGTTACCACAGTGCCTGATATC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation