Mutagenetix > Incidental Mutation

Incidental Mutation 'RF021:Lce1m'

603870

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 #

RF021 (G1)

Quality Score

187.468

Status

Not validated

Chromosome

Chromosomal Location

92925117-92926367 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

TGCC to TGCCGCCGCTGCCGCC at 92925602 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: 99.3%
20x: 98.3%

Validation Efficiency

91% (50/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,891,290 (GRCm39)		probably benign	Het
AI837181	CGG	CGGTGG	19: 5,475,262 (GRCm39)		probably benign	Het
Ankrd44	T	C	1: 54,817,471 (GRCm39)	H79R	probably damaging	Het
Atg9a	T	A	1: 75,159,273 (GRCm39)	E826V	probably damaging	Het
Atrnl1	T	C	19: 57,630,905 (GRCm39)	V224A	probably benign	Het
Bltp1	TTATTATTATTAT	TTATTATTATTATTAATATTATTATTAT	3: 37,104,897 (GRCm39)		probably benign	Het
Cpn2	G	A	16: 30,078,156 (GRCm39)	A515V	probably benign	Het
Cyp2a12	T	C	7: 26,734,785 (GRCm39)	F402S	possibly damaging	Het
Defb22	TGCGGCA	TGCGGCAGAGCTGGGCGTTGCGGCA	2: 152,327,752 (GRCm39)		probably benign	Het
Dnah10	G	T	5: 124,854,971 (GRCm39)	V2016F	probably damaging	Het
Dock10	T	C	1: 80,542,290 (GRCm39)		probably null	Het
Efhd2	GCC	GCCGCCCCC	4: 141,602,084 (GRCm39)		probably benign	Het
Fam131a	A	C	16: 20,513,690 (GRCm39)		probably benign	Het
Gm7247	AGACCAGACC	A	14: 51,601,781 (GRCm39)		probably benign	Het
Gna13	T	C	11: 109,283,218 (GRCm39)	V186A	probably benign	Het
Grk3	T	A	5: 113,089,554 (GRCm39)	I333L	probably benign	Het
Gstp1	A	T	19: 4,085,507 (GRCm39)	V200E	probably benign	Het
Gtf2h1	T	G	7: 46,453,289 (GRCm39)	V74G	possibly damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Kiz	A	G	2: 146,712,750 (GRCm39)	D138G	possibly damaging	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,285,782 (GRCm39)		probably benign	Het
Lats1	A	G	10: 7,586,372 (GRCm39)	T912A	probably damaging	Het
Lrrc2	TTGATTCGGTTCACC	T	9: 110,810,744 (GRCm39)		probably null	Het
Med12l	T	C	3: 58,980,711 (GRCm39)	F359S	probably benign	Het
Mmut	A	G	17: 41,262,649 (GRCm39)	I444V	probably benign	Het
Ncoa2	CTTAAAA	C	1: 13,219,333 (GRCm39)		probably benign	Het
Ngp	A	G	9: 110,250,824 (GRCm39)	T114A	possibly damaging	Het
Nlrc5	A	T	8: 95,203,516 (GRCm39)	T539S	probably benign	Het
Nxf1	A	G	19: 8,749,673 (GRCm39)	D190G	probably damaging	Het
Or6c2b	A	T	10: 128,948,211 (GRCm39)	F28I	probably damaging	Het
Or8g2	A	T	9: 39,821,341 (GRCm39)	M81L	probably benign	Het
Pramel16	C	G	4: 143,675,478 (GRCm39)	Q449H	probably damaging	Het
Prdm15	G	A	16: 97,609,956 (GRCm39)	H563Y	probably damaging	Het
Rbm12	CAGG	CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG	2: 155,938,026 (GRCm39)		probably benign	Het
Sema3g	C	T	14: 30,949,798 (GRCm39)	H660Y	probably damaging	Het
Slco1a8	A	T	6: 141,954,440 (GRCm39)	V31E	probably damaging	Het
Smarca2	AGCAGCAGCAGCAGCAGCAGCA	AGCAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,608,397 (GRCm39)		probably benign	Het
Stpg2	A	T	3: 138,918,011 (GRCm39)		probably null	Het
Taar7f	C	T	10: 23,926,321 (GRCm39)	T305M	possibly damaging	Het
Tbcb	C	T	7: 29,923,771 (GRCm39)	V208M	probably damaging	Het
Tenm2	T	A	11: 35,915,030 (GRCm39)	Q2169L	possibly damaging	Het
Tln1	A	G	4: 43,555,890 (GRCm39)	V108A	probably damaging	Het
Tmc8	T	C	11: 117,674,060 (GRCm39)	M42T	probably benign	Het
Trdc	T	C	14: 54,381,660 (GRCm39)	V115A		Het
Ttbk2	A	G	2: 120,579,115 (GRCm39)	V669A	probably benign	Het
Tusc1	GCC	GCCACCACC	4: 93,223,553 (GRCm39)		probably benign	Het
Utp25	A	G	1: 192,802,974 (GRCm39)	F248L	probably benign	Het
Vps16	A	G	2: 130,280,129 (GRCm39)	H118R	probably benign	Het
Wdpcp	T	A	11: 21,661,587 (GRCm39)	C286*	probably null	Het
Zbed4	C	A	15: 88,665,439 (GRCm39)	Y502*	probably null	Het
Zdbf2	T	A	1: 63,341,811 (GRCm39)	N63K	possibly damaging	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	92,925,576 (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
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'- CCAGACTGCTGATGGCTG -3'
(R):5'- GCTGTCTGAGCCACCACAAG -3'

Posted On

2019-12-04