Incidental Mutation 'RF026:Lce1m'
ID |
604160 |
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 # |
RF026 (G1)
|
Quality Score |
214.469 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
92925117-92926367 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
GCTGCTGCCAC to GCTGCTGCCACTTCTGCTGCCAC
at 92925450 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: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI837181 |
GCG |
GCGTCG |
19: 5,475,252 (GRCm39) |
|
probably benign |
Het |
Ankhd1 |
GGCGGC |
GGCGGCTGCGGC |
18: 36,693,965 (GRCm39) |
|
probably benign |
Het |
Cacna1f |
GA |
GAGTA |
X: 7,486,314 (GRCm39) |
|
probably null |
Het |
Cox7a2l |
GGA |
GGATGGGGA |
17: 83,810,151 (GRCm39) |
|
probably benign |
Het |
Cul9 |
CCT |
CCTACT |
17: 46,811,795 (GRCm39) |
|
probably null |
Het |
Cyb5r4 |
ACACACTGCC |
ACACACTGCCTAGGGATGTGACAGCCACACTGCC |
9: 86,922,486 (GRCm39) |
|
probably benign |
Het |
Foxd3 |
GGACCCTACGGCCG |
GG |
4: 99,545,633 (GRCm39) |
|
probably benign |
Het |
Gab3 |
TCT |
TCTGCT |
X: 74,043,596 (GRCm39) |
|
probably benign |
Het |
Gab3 |
TCT |
TCTGCT |
X: 74,043,629 (GRCm39) |
|
probably benign |
Het |
Hsdl2 |
GCAG |
GCAGCAGCAGCCACAGCTACAG |
4: 59,610,655 (GRCm39) |
|
probably benign |
Het |
Kmt2e |
TTT |
TTTTGTT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CACAGC |
CACAGCAACAGC |
1: 83,019,847 (GRCm39) |
|
probably benign |
Het |
Mrgprx1 |
GAAC |
GAACAAC |
7: 47,671,257 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
GCTG |
GCTGGGATACACGTTAGCAGTGAGGAGCAATCTG |
2: 119,458,085 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
GCAGTGAGGAGCAAGCTGAGA |
GCAGTGAGGAGCAAGCTGAGATACACGTTATCAGTGAGGAGCAAGCTGAGA |
2: 119,458,071 (GRCm39) |
|
probably benign |
Het |
Pdik1l |
CCCA |
CCCACCA |
4: 134,013,905 (GRCm39) |
|
probably benign |
Het |
Rbm33 |
CCAGCCGCAGC |
CCAGC |
5: 28,599,179 (GRCm39) |
|
probably benign |
Het |
Supt20 |
T |
TACAGCA |
3: 54,635,068 (GRCm39) |
|
probably benign |
Het |
Supt20 |
CA |
CAGCAGTA |
3: 54,635,091 (GRCm39) |
|
probably null |
Het |
Trav15-2-dv6-2 |
G |
GAAT |
14: 53,887,214 (GRCm39) |
|
probably benign |
Het |
Yipf3 |
AGAGGA |
AGA |
17: 46,559,898 (GRCm39) |
|
probably benign |
Het |
Zfp384 |
CAGGC |
CAGGCCCATGCCAAGGC |
6: 125,013,455 (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 |
92,925,445 (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 |
|
RF059:Lce1m
|
UTSW |
3 |
92,925,636 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGACGTACAGAGAGTTCTAAGTAC -3'
(R):5'- ACAGCTCTGGATGCTGTAGC -3'
Sequencing Primer
(F):5'- GTTCTAAGTACTTCTGCGGGAAAACC -3'
(R):5'- TGTAGCAGCGGTGGCAG -3'
|
Posted On |
2019-12-04 |