Mutagenetix > Incidental Mutation

Incidental Mutation 'RF023:Lce1m'

603981

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 #

RF023 (G1)

Quality Score

211.468

Status

Not validated

Chromosome

Chromosomal Location

92925117-92926367 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

TGCTGCC to TGCTGCCCCCGCCGCTGCC at 92925587 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

96% (24/25)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,818 (GRCm39)		probably benign	Het
5430401F13Rik	AAAAACAGAAAGGAAAAGGTGGCCAG	AAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,841 (GRCm39)		probably benign	Het
A030005L19Rik	TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG	TGGCTGTGGCTGTGG	1: 82,891,117 (GRCm39)		probably benign	Het
Amot	GCAACAGCAAC	GC	X: 144,233,999 (GRCm39)		probably benign	Het
Anks1b	G	A	10: 89,869,087 (GRCm39)	G49D	probably damaging	Het
Arhgef5	T	A	6: 43,256,407 (GRCm39)	S1172T	probably damaging	Het
Bltp1	T	TTATTATTATTATTAG	3: 37,104,909 (GRCm39)		probably benign	Het
Cacna2d4	G	A	6: 119,245,191 (GRCm39)	V300I	probably benign	Het
Calhm1	GTGGC	GTGGCTGTGGCTTTGGC	19: 47,129,712 (GRCm39)		probably benign	Het
Camk2b	T	C	11: 5,922,301 (GRCm39)	T516A	probably damaging	Het
Ccdc170	CCA	CCAACA	10: 4,511,018 (GRCm39)		probably benign	Het
Cdhr3	G	T	12: 33,110,348 (GRCm39)	S312Y	probably damaging	Het
Cdk1	C	T	10: 69,176,328 (GRCm39)	G260S	possibly damaging	Het
Cdsn	AG	AGACAGGAAGTAGTAGCTCTCAG	17: 35,865,876 (GRCm39)		probably benign	Het
Cenpp	A	T	13: 49,803,620 (GRCm39)	V88E	probably benign	Het
Cfap46	TCTTCTCCCTCTCCTTCTCCTTCTCCTTCTCC	TCTTCTCCTTCTCCTTCTCC	7: 139,218,834 (GRCm39)			Het
Dnah11	T	A	12: 117,918,585 (GRCm39)	R3449W	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,821,427 (GRCm39)		probably null	Het
E4f1	AGGC	AGGCGGC	17: 24,674,157 (GRCm39)		probably benign	Het
Efhd2	CCGCCG	CCGCCGGCGCCG	4: 141,602,073 (GRCm39)		probably benign	Het
Entpd2	CTT	CTTT	2: 25,290,907 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,322,378 (GRCm39)		probably null	Het
Exd2	GCAGCAGCCGCAGCCACAGC	GCAGC	12: 80,522,689 (GRCm39)		probably benign	Het
Gabre	GCTC	GCTCCGTCTC	X: 71,313,660 (GRCm39)		probably benign	Het
H13	G	A	2: 152,511,589 (GRCm39)	E30K	probably damaging	Het
Herc1	G	C	9: 66,365,616 (GRCm39)	G324R		Het
Hsdl2	CAGCCACAGCTGCAG	CAGCCACAGCTGCAGCAGGAGCCACAGCTGCAG	4: 59,610,644 (GRCm39)		probably benign	Het
Il2	GCTTGAAG	GCTTGAAGCGGGCCTTGAAG	3: 37,179,969 (GRCm39)		probably benign	Het
Krtap28-10	CAG	CAGCCCTAG	1: 83,019,867 (GRCm39)		probably null	Het
Krtap28-10	ACAGC	ACAGCCACGGCCACCGCAGC	1: 83,020,007 (GRCm39)		probably benign	Het
Krtap4-9	GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG	GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAGGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG	11: 99,676,217 (GRCm39)		probably benign	Het
Lrch1	TGGTGGTG	T	14: 75,185,006 (GRCm39)		probably null	Het
Mgam	C	T	6: 40,657,642 (GRCm39)	T999I	probably benign	Het
Mrtfa	T	C	15: 80,900,057 (GRCm39)	E740G	probably damaging	Het
Nek1	A	G	8: 61,525,779 (GRCm39)		probably null	Het
Phactr2	T	A	10: 13,121,178 (GRCm39)	Q503H	probably benign	Het
Ptprd	T	C	4: 76,046,802 (GRCm39)	Y241C	probably damaging	Het
Rad51ap2	T	G	12: 11,508,076 (GRCm39)	V666G	possibly damaging	Het
Reep1	CC	CCCGAC	6: 71,684,952 (GRCm39)		probably null	Het
Rfx4	CTCTCTCTCT	CTCTCTCTCTCTCTCTCTGTCTCTCTCT	10: 84,694,349 (GRCm39)		probably benign	Het
Rnf126	AGGACGAGG	AG	10: 79,594,977 (GRCm39)		probably null	Het
Rnpc3	A	T	3: 113,413,723 (GRCm39)	S240T	probably damaging	Het
Rtbdn	GCAGCG	GCAGCGTCAGCG	8: 85,682,795 (GRCm39)		probably benign	Het
Sec31b	G	T	19: 44,524,226 (GRCm39)	A138D	probably damaging	Het
Syne1	A	T	10: 5,205,482 (GRCm39)	W3495R	probably damaging	Het
Tgoln1	CC	CCCGTGGGCTTGCCAGAATTACCTTC	6: 72,593,063 (GRCm39)		probably benign	Het
Tmtc3	T	C	10: 100,313,728 (GRCm39)	H48R	probably benign	Het
Trappc9	CTGCTGCT	CTGCTGCTGCTGCTGATGCTGCT	15: 72,673,173 (GRCm39)		probably benign	Het
Trappc9	T	TGCTGCTGCTGCTGCC	15: 72,673,180 (GRCm39)		probably benign	Het
Vsig2	T	A	9: 37,450,559 (GRCm39)		probably null	Het
Wnk2	T	C	13: 49,300,255 (GRCm39)	T152A	probably benign	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
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
RF059:Lce1m	UTSW	3	92,925,636 (GRCm39)	unclassified	probably benign

Predicted Primers

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

Sequencing Primer
(F):5'- GGTCAGCAGCAACCTCCAGAG -3'
(R):5'- GCTGTCTGAGCCACCACAAG -3'

Posted On

2019-12-04