Mutagenetix > Incidental Mutation

Incidental Mutation 'RF054:Lce1m'

605197

Institutional Source

Beutler Lab

Gene Symbol

Lce1m

Ensembl Gene

ENSMUSG00000027912

Gene Name

late cornified envelope 1M

Synonyms

Sprrl10, Lce5a, 1110059L13Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

RF054 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

93017810-93019060 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

CAC to CACCGCTGCGGCGAC at 93018298 bp (GRCm38)

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: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
Ankhd1	CGGC	CGGCGGAGGC	18: 36,560,929	probably benign	Het
Bean1	CT	C	8: 104,182,032	probably null	Het
Cep131	CTGTTGTT	CTGTTGTTGTT	11: 120,072,968	probably benign	Het
Chga	AGC	AGCTGC	12: 102,561,423	probably benign	Het
Dmkn	GAAGTGGTGGAAGTGGTGG	GAAGTGGTGGAAGTGGTGGAAGTGGTGTAAGTGGTGGAAGTGGTGG	7: 30,767,188	probably benign	Het
Dnmt1	CCTCGTT	CCTCGTTTTGGGGGCGGAGCACAGTTCCTAGCTCGTT	9: 20,910,139	probably null	Het
Epha8	CCTGGGC	CC	4: 136,933,037	probably benign	Het
F830016B08Rik	AAAAAA	AAAAAAAAA	18: 60,299,938	probably benign	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416	probably benign	Het
Gm8369	GTGT	GTGTCTGT	19: 11,511,764	probably null	Het
Lrmp	ATTG	ATTGAGCACTTTG	6: 145,173,788	probably benign	Het
Lypd8	TC	TCGCCTCTGTTACCCCACAAATCACCAACACCTCCCCC	11: 58,390,251	probably benign	Het
Nefh	GGGACT	GGGACTGGGCCTCACCTGCGGACT	11: 4,941,048	probably benign	Het
Prp2	CTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCT	C	6: 132,600,521	probably null	Het
Rassf6	TCACTCATGGTCCTGTAGAGCAATGGGGATTC	TCACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCCCACTCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,608,911	probably benign	Het
Rassf6	TGTAGAGCAATGGGGATTC	TGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCAGTAGAGCAATGGGGATTC	5: 90,608,924	probably benign	Het
Rassf6	CAATGGGGATTC	CAATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGAAATGGGGATTC	5: 90,608,931	probably benign	Het
Sbp	GATGCTGACAACAAA	GATGCTGACAACAAATATGCTGACAACAAA	17: 23,945,371	probably benign	Het
Six3	GCG	GCGCCG	17: 85,621,355	probably benign	Het
Tfeb	CAG	CAGTAG	17: 47,786,098	probably null	Het
Thbs1	TGACCTTAG	TG	2: 118,122,865	probably benign	Het
Tob1	GCA	GCACCA	11: 94,214,461	probably benign	Het
Ubqln3	AACAC	A	7: 104,141,178	probably null	Het
Zfhx3	AACAGCAGC	AACAGCAGCCACAGCAGC	8: 108,956,096	probably benign	Het

Other mutations in Lce1m

Allele	Source	Chr	Coord	Type	Predicted Effect
FR4342:Lce1m	UTSW	3	93018247	unclassified	probably benign
FR4449:Lce1m	UTSW	3	93018152	unclassified	probably benign
FR4589:Lce1m	UTSW	3	93018268	unclassified	probably benign
FR4976:Lce1m	UTSW	3	93018148	unclassified	probably benign
R1513:Lce1m	UTSW	3	93018625	unclassified	probably benign
R7621:Lce1m	UTSW	3	93017870	splice site	probably null
R7753:Lce1m	UTSW	3	93018508	missense	unknown
RF001:Lce1m	UTSW	3	93018152	unclassified	probably benign
RF001:Lce1m	UTSW	3	93018269	unclassified	probably benign
RF002:Lce1m	UTSW	3	93018283	unclassified	probably benign
RF002:Lce1m	UTSW	3	93018299	unclassified	probably benign
RF007:Lce1m	UTSW	3	93018144	unclassified	probably benign
RF009:Lce1m	UTSW	3	93018131	unclassified	probably benign
RF010:Lce1m	UTSW	3	93018290	unclassified	probably benign
RF015:Lce1m	UTSW	3	93018148	unclassified	probably benign
RF021:Lce1m	UTSW	3	93018269	unclassified	probably benign
RF021:Lce1m	UTSW	3	93018295	unclassified	probably benign
RF023:Lce1m	UTSW	3	93018280	unclassified	probably benign
RF026:Lce1m	UTSW	3	93018138	unclassified	probably benign
RF026:Lce1m	UTSW	3	93018143	unclassified	probably benign
RF028:Lce1m	UTSW	3	93018131	unclassified	probably benign
RF030:Lce1m	UTSW	3	93018141	unclassified	probably benign
RF030:Lce1m	UTSW	3	93018344	unclassified	probably benign
RF037:Lce1m	UTSW	3	93018300	unclassified	probably benign
RF041:Lce1m	UTSW	3	93018141	unclassified	probably benign
RF042:Lce1m	UTSW	3	93018139	unclassified	probably benign
RF045:Lce1m	UTSW	3	93018292	unclassified	probably benign
RF046:Lce1m	UTSW	3	93018293	unclassified	probably benign
RF059:Lce1m	UTSW	3	93018329	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGTTCTTCGTGGCCAGGTC -3'
(R):5'- GAGATGTCCTGTCAGCAGAG -3'

Sequencing Primer
(F):5'- CCAGACTGCTGATGGCTG -3'
(R):5'- CTGCTGCAGCTCTGGATG -3'

Posted On

2019-12-04