Incidental Mutation 'RF059:Lce1m'
ID |
605348 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lce1m
|
Ensembl Gene |
ENSMUSG00000027912 |
Gene Name |
late cornified envelope 1M |
Synonyms |
1110059L13Rik, Sprrl10, Lce5a |
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
RF059 (G1)
|
Quality Score |
169.468 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
92925117-92926367 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
GCTGCTGCCACCGCTGCTGCCACCGCTGCTGCCACAGCAACTGCTGCCACCGCTGCTGCCAC to GCTGCTGCCACCGCTGCTGCCAC
at 92925636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029520]
[ENSMUST00000029521]
[ENSMUST00000107301]
[ENSMUST00000193944]
|
AlphaFold |
Q9CR91 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029520
|
SMART Domains |
Protein: ENSMUSP00000029520 Gene: ENSMUSG00000027912
Domain | Start | End | E-Value | Type |
Pfam:LCE
|
9 |
96 |
5.4e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000029521
|
SMART Domains |
Protein: ENSMUSP00000029521 Gene: ENSMUSG00000027913
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
102 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107301
|
SMART Domains |
Protein: ENSMUSP00000102922 Gene: ENSMUSG00000027913
Domain | Start | End | E-Value | Type |
Pfam:NICE-1
|
5 |
100 |
5.4e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193944
|
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.6%
- 10x: 99.2%
- 20x: 98.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
CTGTGGCTG |
CTGTGGCTGGTGTGGCTG |
1: 82,891,300 (GRCm39) |
|
probably benign |
Het |
AY761185 |
CTGTGGGCACTT |
CT |
8: 21,433,930 (GRCm39) |
|
probably null |
Het |
Cherp |
GACCTGGA |
G |
8: 73,215,899 (GRCm39) |
|
probably null |
Het |
Cpox |
C |
T |
16: 58,491,130 (GRCm39) |
R114C |
probably benign |
Het |
Cyb5r4 |
GGGA |
GGGATGTGACAGACACACTGCCCAAGGA |
9: 86,922,498 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
ACCTCGTT |
ACCTCGTTTTGGGGGCGGAGCACAGTTCCTCCCTCGTT |
9: 20,821,434 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
CCTCGTT |
CCTCGTTTTGGGGGCGGAGCACAGTTCCTATCTCGTT |
9: 20,821,435 (GRCm39) |
|
probably null |
Het |
Gab3 |
TCT |
TCTGCT |
X: 74,043,596 (GRCm39) |
|
probably benign |
Het |
Gabre |
TC |
TCTGGCAC |
X: 71,314,370 (GRCm39) |
|
probably benign |
Het |
Hsdl2 |
G |
GCAGCAGCCACAGCTGCAA |
4: 59,610,658 (GRCm39) |
|
probably benign |
Het |
Klra2 |
GAAAGAAATCCA |
GAAAGAAATCCAAAGAAATCCA |
6: 131,198,801 (GRCm39) |
|
probably null |
Het |
Kmt2c |
CCTTCT |
CCT |
5: 25,518,477 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CCACAGCCACCACAG |
CCACAGCCACCACAGACACAGCCACCACAG |
1: 83,019,996 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
C |
CCACAGCCACCACAGA |
1: 83,020,011 (GRCm39) |
|
probably benign |
Het |
Lca5l |
TGGCCCTGGCCCCGGCCC |
TGGCCC |
16: 95,960,501 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
AGC |
AGCGGC |
X: 70,162,438 (GRCm39) |
|
probably benign |
Het |
Mcph1 |
CTCT |
CTCTTCT |
8: 18,702,541 (GRCm39) |
|
probably benign |
Het |
Sbp |
GACAACAAAGATG |
GACAACAAAGATGCTTACAACAAAGATG |
17: 24,164,351 (GRCm39) |
|
probably benign |
Het |
Sprr2b |
ATGCTGTGAGCCTTGTCCTCCTCCAAAGTGC |
ATGC |
3: 92,224,875 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Lce1m |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
FR4342:Lce1m
|
UTSW |
3 |
92,925,554 (GRCm39) |
unclassified |
probably benign |
|
FR4449:Lce1m
|
UTSW |
3 |
92,925,459 (GRCm39) |
unclassified |
probably benign |
|
FR4589:Lce1m
|
UTSW |
3 |
92,925,575 (GRCm39) |
unclassified |
probably benign |
|
FR4976:Lce1m
|
UTSW |
3 |
92,925,455 (GRCm39) |
unclassified |
probably benign |
|
R1513:Lce1m
|
UTSW |
3 |
92,925,932 (GRCm39) |
unclassified |
probably benign |
|
R7621:Lce1m
|
UTSW |
3 |
92,925,177 (GRCm39) |
splice site |
probably null |
|
R7753:Lce1m
|
UTSW |
3 |
92,925,815 (GRCm39) |
missense |
unknown |
|
RF001:Lce1m
|
UTSW |
3 |
92,925,576 (GRCm39) |
unclassified |
probably benign |
|
RF001:Lce1m
|
UTSW |
3 |
92,925,459 (GRCm39) |
unclassified |
probably benign |
|
RF002:Lce1m
|
UTSW |
3 |
92,925,606 (GRCm39) |
unclassified |
probably benign |
|
RF002:Lce1m
|
UTSW |
3 |
92,925,590 (GRCm39) |
unclassified |
probably benign |
|
RF007:Lce1m
|
UTSW |
3 |
92,925,451 (GRCm39) |
unclassified |
probably benign |
|
RF009:Lce1m
|
UTSW |
3 |
92,925,438 (GRCm39) |
unclassified |
probably benign |
|
RF010:Lce1m
|
UTSW |
3 |
92,925,597 (GRCm39) |
unclassified |
probably benign |
|
RF015:Lce1m
|
UTSW |
3 |
92,925,455 (GRCm39) |
unclassified |
probably benign |
|
RF021:Lce1m
|
UTSW |
3 |
92,925,602 (GRCm39) |
unclassified |
probably benign |
|
RF021:Lce1m
|
UTSW |
3 |
92,925,576 (GRCm39) |
unclassified |
probably benign |
|
RF023:Lce1m
|
UTSW |
3 |
92,925,587 (GRCm39) |
unclassified |
probably benign |
|
RF026:Lce1m
|
UTSW |
3 |
92,925,450 (GRCm39) |
unclassified |
probably benign |
|
RF026:Lce1m
|
UTSW |
3 |
92,925,445 (GRCm39) |
unclassified |
probably benign |
|
RF028:Lce1m
|
UTSW |
3 |
92,925,438 (GRCm39) |
unclassified |
probably benign |
|
RF030:Lce1m
|
UTSW |
3 |
92,925,651 (GRCm39) |
unclassified |
probably benign |
|
RF030:Lce1m
|
UTSW |
3 |
92,925,448 (GRCm39) |
unclassified |
probably benign |
|
RF037:Lce1m
|
UTSW |
3 |
92,925,607 (GRCm39) |
unclassified |
probably benign |
|
RF041:Lce1m
|
UTSW |
3 |
92,925,448 (GRCm39) |
unclassified |
probably benign |
|
RF042:Lce1m
|
UTSW |
3 |
92,925,446 (GRCm39) |
unclassified |
probably benign |
|
RF045:Lce1m
|
UTSW |
3 |
92,925,599 (GRCm39) |
unclassified |
probably benign |
|
RF046:Lce1m
|
UTSW |
3 |
92,925,600 (GRCm39) |
unclassified |
probably benign |
|
RF054:Lce1m
|
UTSW |
3 |
92,925,605 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGTTCTTCGTGGCCAGGTC -3'
(R):5'- AGATGTCCTGTCAGCAGAGC -3'
Sequencing Primer
(F):5'- CCAGACTGCTGATGGCTG -3'
(R):5'- CCTGCTGTAGCCTGGGTTC -3'
|
Posted On |
2019-12-04 |