Mutagenetix > Incidental Mutation

Incidental Mutation 'RF028:Lce1m'

604220

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 question?

Stock #

RF028 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

92925117-92926367 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

GTTGCTGCCACTG to GTTGCTGCCACTGTTGCTGCCACTG at 92925438 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: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
A030005L19Rik	GCTGTG	GCTGTGCCTCCTGTG	1: 82,891,299 (GRCm39)	probably benign	Het
A030005L19Rik	TGTGGCTGC	TGTGGCTGCCGTGGCTGC	1: 82,891,301 (GRCm39)	probably benign	Het
Acap3	TGCATCCTGGGCTGC	TGCATCCTGGGCTGCAGCATCCTGGGCTGC	4: 155,989,548 (GRCm39)	probably benign	Het
Arid1b	C	CGGG	17: 5,045,873 (GRCm39)	probably benign	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTACTCCTCCTCCTCCTCCTCCTCCT	7: 80,162,653 (GRCm39)	probably null	Het
Boc	GAC	G	16: 44,316,796 (GRCm39)	probably null	Het
Cacna1f	GAG	GAGAAG	X: 7,486,299 (GRCm39)	probably benign	Het
Cacna1f	GAG	GAGAAG	X: 7,486,302 (GRCm39)	probably benign	Het
Catsper2	ATCGCTTTCCTCGTTTTCG	ATCG	2: 121,228,207 (GRCm39)	probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,465,750 (GRCm39)	probably null	Het
E4f1	CGC	CGCGGC	17: 24,674,164 (GRCm39)	probably benign	Het
Eps8	TCGCTC	TCGCTCGCTC	6: 137,494,061 (GRCm39)	probably benign	Het
Ermn	AACT	AACTACT	2: 57,938,078 (GRCm39)	probably benign	Het
Fsip2	TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA	TAGATGTGAAACTCTTAGAGGTAAGA	2: 82,824,352 (GRCm39)	probably null	Het
Gab3	CTTCTT	CTTATTCTT	X: 74,043,606 (GRCm39)	probably null	Het
Gab3	TCT	TCTGCT	X: 74,043,623 (GRCm39)	probably benign	Het
Gabre	CTC	CTCTGGGTC	X: 71,314,369 (GRCm39)	probably benign	Het
Gm7579	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	7: 141,765,782 (GRCm39)	probably benign	Het
Gm8369	TG	TGGGTGAG	19: 11,489,137 (GRCm39)	probably null	Het
Hsdl2	CAGCTGCAG	CAGCTGCAGCAGCAGCCATAGCTGCAG	4: 59,610,650 (GRCm39)	probably null	Het
Iqcf4	TTTTCCTTTT	TTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCGTTTCCTTTT	9: 106,447,813 (GRCm39)	probably benign	Het
Kmt2e	TTT	TTTTATT	5: 23,683,507 (GRCm39)	probably benign	Het
Kri1	CTCCTCCT	C	9: 21,192,367 (GRCm39)	probably null	Het
Krtap28-10	AGCCACAGCCACCACAGCCACAGCCACCAC	AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC	1: 83,019,979 (GRCm39)	probably benign	Het
Loricrin	CGCCGCCT	C	3: 91,989,206 (GRCm39)	probably null	Het
Luzp1	A	AGGTGGCCTCTTCAGG	4: 136,270,507 (GRCm39)	probably benign	Het
Lypd8	CCAACA	CCAACAGGTCCCTCGCCTCTGTTACCCCACAAATAAACAACA	11: 58,281,065 (GRCm39)	probably benign	Het
Mn1	CAG	CAGGAG	5: 111,567,577 (GRCm39)	probably benign	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGTGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,012 (GRCm39)	probably benign	Het
Nefh	GGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGGACTTGGCCTCACCTTGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,029 (GRCm39)	probably benign	Het
Nf2	AAAAG	A	11: 4,779,936 (GRCm39)	probably null	Het
Nusap1	AGAT	AGATCCACGTTAGCAGTGAGGAGCAAGCTGCGAT	2: 119,458,059 (GRCm39)	probably benign	Het
Nusap1	CAGTGAGGAGCAAGCTGAGA	CAGTGAGGAGCAAGCTGAGATACACGTTAGTAGTGAGGAGCAAGCTGAGA	2: 119,458,072 (GRCm39)	probably benign	Het
Phf20	CCCCCC	CCCCCCGCCCCC	2: 156,146,543 (GRCm39)	probably benign	Het
Ppp1r8	TCTCTCTCAC	TC	4: 132,557,926 (GRCm39)	probably benign	Het
Prr5l	GCCTC	G	2: 101,627,918 (GRCm39)	probably null	Het
Rbm12	CGGGACCGGGCATTGCGGGACCGGGCATTGCGGG	CGG	2: 155,938,050 (GRCm39)	probably null	Het
Rpgrip1	GA	GAGTA	14: 52,386,855 (GRCm39)	probably null	Het
Spmap2l	AGCGATCCTCCCCAGTCCCGCAAGGCC	AGCGATCCTCCCCAGTCCCGCAAGGCCCGCGATCCTCCCCAGTCCCGCAAGGCC	5: 77,164,248 (GRCm39)	probably benign	Het
Tanc1	GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA	G	2: 59,673,613 (GRCm39)	probably benign	Het
Tfeb	GCA	GCATCA	17: 48,097,022 (GRCm39)	probably benign	Het
Tgoln1	T	TTGTCTTGTCAGAATCACCTCCTGG	6: 72,593,019 (GRCm39)	probably benign	Het
Tob1	CACA	CACAACA	11: 94,105,277 (GRCm39)	probably benign	Het
Trappc9	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,673,139 (GRCm39)	probably benign	Het
Triobp	CAGGACT	CAGGACTGCCTGTGCCCAACGGAACAACCCAAGGACT	15: 78,851,239 (GRCm39)	probably benign	Het
Zfhx3	AACAGCAGC	AACAGCAGCTACAGCAGC	8: 109,682,728 (GRCm39)	probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,910,188 (GRCm39)	probably null	Het

Other mutations in Lce1m

Allele	Source	Chr	Coord	Type	Predicted Effect
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
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'- ACCTCGTGGTAGATGAGCTTTAG -3'
(R):5'- CACAGCTCTGGATGCTGTAG -3'

Sequencing Primer
(F):5'- CTTTAGGGAGATGAAGAGGACGTAC -3'
(R):5'- TGTAGCAGCGGTGGCAG -3'

Posted On

2019-12-04