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

Sprrl10, Lce5a, 1110059L13Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

RF023 (G1)

Quality Score

211.468

Status

Not validated

Chromosome

Chromosomal Location

93017810-93019060 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

TGCTGCC to TGCTGCCCCCGCCGCTGCC at 93018280 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: 99.4%
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
4932438A13Rik	T	TTATTATTATTATTAG	3: 37,050,760		probably benign	Het
5430401F13Rik	ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,855		probably benign	Het
5430401F13Rik	AAAAACAGAAAGGAAAAGGTGGCCAG	AAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,878		probably benign	Het
A030005L19Rik	TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG	TGGCTGTGGCTGTGG	1: 82,913,396		probably benign	Het
Amot	GCAACAGCAAC	GC	X: 145,451,003		probably benign	Het
Anks1b	G	A	10: 90,033,225	G49D	probably damaging	Het
Arhgef5	T	A	6: 43,279,473	S1172T	probably damaging	Het
Cacna2d4	G	A	6: 119,268,230	V300I	probably benign	Het
Calhm1	GTGGC	GTGGCTGTGGCTTTGGC	19: 47,141,273		probably benign	Het
Camk2b	T	C	11: 5,972,301	T516A	probably damaging	Het
Ccdc170	CCA	CCAACA	10: 4,561,018		probably benign	Het
Cdhr3	G	T	12: 33,060,349	S312Y	probably damaging	Het
Cdk1	C	T	10: 69,340,498	G260S	possibly damaging	Het
Cdsn	AG	AGACAGGAAGTAGTAGCTCTCAG	17: 35,554,979		probably benign	Het
Cenpp	A	T	13: 49,650,144	V88E	probably benign	Het
Cfap46	TCTTCTCCCTCTCCTTCTCCTTCTCCTTCTCC	TCTTCTCCTTCTCCTTCTCC	7: 139,638,918			Het
Dnah11	T	A	12: 117,954,850	R3449W	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,910,131		probably null	Het
E4f1	AGGC	AGGCGGC	17: 24,455,183		probably benign	Het
Efhd2	CCGCCG	CCGCCGGCGCCG	4: 141,874,762		probably benign	Het
Entpd2	CTT	CTTT	2: 25,400,895		probably null	Het
Ephx2	A	G	14: 66,084,929		probably null	Het
Exd2	GCAGCAGCCGCAGCCACAGC	GCAGC	12: 80,475,915		probably benign	Het
Gabre	GCTC	GCTCCGTCTC	X: 72,270,054		probably benign	Het
H13	G	A	2: 152,669,669	E30K	probably damaging	Het
Herc1	G	C	9: 66,458,334	G324R		Het
Hsdl2	CAGCCACAGCTGCAG	CAGCCACAGCTGCAGCAGGAGCCACAGCTGCAG	4: 59,610,644		probably benign	Het
Il2	GCTTGAAG	GCTTGAAGCGGGCCTTGAAG	3: 37,125,820		probably benign	Het
Krtap28-10	CAG	CAGCCCTAG	1: 83,042,146		probably null	Het
Krtap28-10	ACAGC	ACAGCCACGGCCACCGCAGC	1: 83,042,286		probably benign	Het
Krtap4-9	GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG	GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAGGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG	11: 99,785,391		probably benign	Het
Lrch1	TGGTGGTG	T	14: 74,947,566		probably null	Het
Mgam	C	T	6: 40,680,708	T999I	probably benign	Het
Mkl1	T	C	15: 81,015,856	E740G	probably damaging	Het
Nek1	A	G	8: 61,072,745		probably null	Het
Phactr2	T	A	10: 13,245,434	Q503H	probably benign	Het
Ptprd	T	C	4: 76,128,565	Y241C	probably damaging	Het
Rad51ap2	T	G	12: 11,458,075	V666G	possibly damaging	Het
Reep1	CC	CCCGAC	6: 71,707,968		probably null	Het
Rfx4	CTCTCTCTCT	CTCTCTCTCTCTCTCTCTGTCTCTCTCT	10: 84,858,485		probably benign	Het
Rnf126	AGGACGAGG	AG	10: 79,759,143		probably null	Het
Rnpc3	A	T	3: 113,620,074	S240T	probably damaging	Het
Rtbdn	GCAGCG	GCAGCGTCAGCG	8: 84,956,166		probably benign	Het
Sec31b	G	T	19: 44,535,787	A138D	probably damaging	Het
Syne1	A	T	10: 5,255,482	W3495R	probably damaging	Het
Tgoln1	CC	CCCGTGGGCTTGCCAGAATTACCTTC	6: 72,616,080		probably benign	Het
Tmtc3	T	C	10: 100,477,866	H48R	probably benign	Het
Trappc9	CTGCTGCT	CTGCTGCTGCTGCTGATGCTGCT	15: 72,801,324		probably benign	Het
Trappc9	T	TGCTGCTGCTGCTGCC	15: 72,801,331		probably benign	Het
Vsig2	T	A	9: 37,539,263		probably null	Het
Wnk2	T	C	13: 49,146,779	T152A	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
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
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'- AGATGTCCTGTCAGCAGAGC -3'

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

Posted On

2019-12-04