Mutagenetix > Incidental Mutations

Incidental Mutation 'RF037:Lce1m'

604620

Institutional Source

Beutler Lab

Gene Symbol

Lce1m

Ensembl Gene

ENSMUSG00000027912

Gene Name

late cornified envelope 1M

Synonyms

Sprrl10, Lce5a, 1110059L13Rik

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

RF037 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

93017810-93019060 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to CCGCTGCTGCCAT at 93018300 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: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AAGGAAAAGGTGGCCAG	AAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,887		probably benign	Het
5430401F13Rik	AGGAAAAGGTGGCCAG	AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,888		probably benign	Het
Abcf1	TGTC	T	17: 35,963,188		probably benign	Het
Ankrd24	GAGG	GAGGCAGAGGCTTAGG	10: 81,643,573		probably null	Het
Ckap2l	TGCA	T	2: 129,270,649		probably benign	Het
Cox7a2l	GGA	GGAGGGGGA	17: 83,502,722		probably benign	Het
Cpne1	TCCAC	TC	2: 156,073,510		probably benign	Het
Dnmt1	GGGGCGGAGCACAGTTCCTA	GGGGCGGAGCACAGTTCCTATCTCGTATTGTGGGCGGAGCACAGTTCCTA	9: 20,910,119		probably benign	Het
Dnmt1	TTCCTACCTCGTT	TTCCTACCTCGTTTTGGGGGCGGAGCATAGGTCCTACCTCGTT	9: 20,910,133		probably null	Het
Dnmt1	TCGTT	TCGTTTTGGGGGCTGAGCACAGTTCCTACCGCGTT	9: 20,910,141		probably null	Het
Ehbp1	ACTG	A	11: 22,006,783		probably benign	Het
Eml6	TCCTAAAAAAACAAAAC	TC	11: 29,752,549		probably benign	Het
Fbrsl1	G	GCGTGTGCTAGTA	5: 110,378,151		probably null	Het
Gabre	CTC	CTCCGGGTC	X: 72,270,061		probably benign	Het
Gm8369	GTG	GTGGGTATG	19: 11,511,782		probably benign	Het
Igf1r	GGAGATGGAGC	GGAGATGGAGCTTGAGATGGAGC	7: 68,226,176		probably benign	Het
Krtap28-10	ACAG	ACAGCCCCAG	1: 83,042,145		probably benign	Het
Krtap28-10	ACAGC	ACAGCCACAGCCACCCCAGC	1: 83,042,286		probably benign	Het
Lrch1	CGTGGTGCTGGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG	CGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG	14: 74,947,549		probably benign	Het
Map1a	AGCTCCAGCTCCAGCTCCAGCTCCA	AGCTCCAGCTCCAGCTCCAGCTCCAGCTCCGGCTCCAGCTCCAGCTCCAGCTCCA	2: 121,306,294		probably benign	Het
Mast4	CCTCGGGGACAAGCTGTGAGTTGGGGAAC	CC	13: 102,739,241		probably benign	Het
Med12l	GCAACA	GCAACAACA	3: 59,275,956		probably benign	Het
Nefh	TTGGCCTCAGCTGGGGACTTGGCCTCA	TTGGCCTCAGCTGGAGACTTGGCCTCAGCTGGGGACTTGGCCTCA	11: 4,940,999		probably benign	Het
Nefh	TGGGGACTTGG	TGGGGACTTGGACTCCCCGGGGGACTTGG	11: 4,941,046		probably benign	Het
Nefh	TGGC	TGGCGTCACCTGGGGACTGGGC	11: 4,941,054		probably benign	Het
Nusap1	AGCAGTGAGGAGCAAGCTGAGA	AGCAGTGAGGAGCAAGCTGAGATACACGTTCGCAGTGAGGAGCAAGCTGAGA	2: 119,627,589		probably benign	Het
Olfr1287	G	A	2: 111,449,551	G137D	not run	Het
Ren1	ACCGC	AC	1: 133,350,781		probably benign	Het
Sbp	AAGATG	AAGATGCTGACAACAGAGATG	17: 23,945,384		probably benign	Het
Sbp	ATG	ATGCTGACAACAAAGCTG	17: 23,945,387		probably benign	Het
Six5	CGGA	C	7: 19,094,800		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGGGGGCTTG	6: 72,616,036		probably benign	Het
Thegl	CAAGGCCAG	CAAGGCCAGCGATCCTCCCCAGTCCCGAAAGGCCAG	5: 77,016,421		probably benign	Het
Ufl1	C	T	4: 25,280,628	R73Q	possibly damaging	Het
Zfhx3	CAGCAGCA	CAGCAGCAATAGCAGCA	8: 108,956,098		probably null	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
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
RF054:Lce1m	UTSW	3	93018298	unclassified	probably benign
RF059:Lce1m	UTSW	3	93018329	unclassified	probably benign

Predicted Primers

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

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

Posted On

2019-12-04