Mutagenetix > Incidental Mutations

Incidental Mutation 'RF028:Lor'

604219

Institutional Source

Beutler Lab

Gene Symbol

Lor

Ensembl Gene

ENSMUSG00000043165

Gene Name

loricrin

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

RF028 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

92080271-92083142 bp(-) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CGCCGCCT to C at 92081899 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000052128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058150]

AlphaFold

P18165

Predicted Effect

probably null
Transcript: ENSMUST00000058150

SMART Domains

Protein: ENSMUSP00000052128
Gene: ENSMUSG00000043165

Domain	Start	End	E-Value	Type
Pfam:Loricrin	316	438	2.7e-11	PFAM
Pfam:Loricrin	426	486	1.4e-14	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene are runted at birth, have a translucent skin and skin skin barrier defect. The morphological skin phenotype disappears after 4-5 days. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
A030005L19Rik	GCTGTG	GCTGTGCCTCCTGTG	1: 82,913,578	probably benign	Het
A030005L19Rik	TGTGGCTGC	TGTGGCTGCCGTGGCTGC	1: 82,913,580	probably benign	Het
Acap3	TGCATCCTGGGCTGC	TGCATCCTGGGCTGCAGCATCCTGGGCTGC	4: 155,905,091	probably benign	Het
Arid1b	C	CGGG	17: 4,995,598	probably benign	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTACTCCTCCTCCTCCTCCTCCTCCT	7: 80,512,905	probably null	Het
Boc	GAC	G	16: 44,496,433	probably null	Het
Cacna1f	GAG	GAGAAG	X: 7,620,060	probably benign	Het
Cacna1f	GAG	GAGAAG	X: 7,620,063	probably benign	Het
Catsper2	ATCGCTTTCCTCGTTTTCG	ATCG	2: 121,397,726	probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,583,697	probably null	Het
E4f1	CGC	CGCGGC	17: 24,455,190	probably benign	Het
Eps8	TCGCTC	TCGCTCGCTC	6: 137,517,063	probably benign	Het
Ermn	AACT	AACTACT	2: 58,048,066	probably benign	Het
Fsip2	TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA	TAGATGTGAAACTCTTAGAGGTAAGA	2: 82,994,008	probably null	Het
Gab3	CTTCTT	CTTATTCTT	X: 75,000,000	probably null	Het
Gab3	TCT	TCTGCT	X: 75,000,017	probably benign	Het
Gabre	CTC	CTCTGGGTC	X: 72,270,763	probably benign	Het
Gm7579	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	7: 142,212,045	probably benign	Het
Gm8369	TG	TGGGTGAG	19: 11,511,773	probably null	Het
Hsdl2	CAGCTGCAG	CAGCTGCAGCAGCAGCCATAGCTGCAG	4: 59,610,650	probably null	Het
Iqcf4	TTTTCCTTTT	TTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCGTTTCCTTTT	9: 106,570,614	probably benign	Het
Kmt2e	TTT	TTTTATT	5: 23,478,509	probably benign	Het
Kri1	CTCCTCCT	C	9: 21,281,071	probably null	Het
Krtap28-10	AGCCACAGCCACCACAGCCACAGCCACCAC	AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC	1: 83,042,258	probably benign	Het
Lce1m	GTTGCTGCCACTG	GTTGCTGCCACTGTTGCTGCCACTG	3: 93,018,131	probably benign	Het
Luzp1	A	AGGTGGCCTCTTCAGG	4: 136,543,196	probably benign	Het
Lypd8	CCAACA	CCAACAGGTCCCTCGCCTCTGTTACCCCACAAATAAACAACA	11: 58,390,239	probably benign	Het
Mn1	CAG	CAGGAG	5: 111,419,711	probably benign	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGTGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,012	probably benign	Het
Nefh	GGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGGACTTGGCCTCACCTTGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,029	probably benign	Het
Nf2	AAAAG	A	11: 4,829,936	probably null	Het
Nusap1	AGAT	AGATCCACGTTAGCAGTGAGGAGCAAGCTGCGAT	2: 119,627,578	probably benign	Het
Nusap1	CAGTGAGGAGCAAGCTGAGA	CAGTGAGGAGCAAGCTGAGATACACGTTAGTAGTGAGGAGCAAGCTGAGA	2: 119,627,591	probably benign	Het
Phf20	CCCCCC	CCCCCCGCCCCC	2: 156,304,623	probably benign	Het
Ppp1r8	TCTCTCTCAC	TC	4: 132,830,615	probably benign	Het
Prr5l	GCCTC	G	2: 101,797,573	probably null	Het
Rbm12	CGGGACCGGGCATTGCGGGACCGGGCATTGCGGG	CGG	2: 156,096,130	probably null	Het
Rpgrip1	GA	GAGTA	14: 52,149,398	probably null	Het
Tanc1	GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA	G	2: 59,843,269	probably benign	Het
Tfeb	GCA	GCATCA	17: 47,786,097	probably benign	Het
Tgoln1	T	TTGTCTTGTCAGAATCACCTCCTGG	6: 72,616,036	probably benign	Het
Thegl	AGCGATCCTCCCCAGTCCCGCAAGGCC	AGCGATCCTCCCCAGTCCCGCAAGGCCCGCGATCCTCCCCAGTCCCGCAAGGCC	5: 77,016,401	probably benign	Het
Tob1	CACA	CACAACA	11: 94,214,451	probably benign	Het
Trappc9	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,801,290	probably benign	Het
Triobp	CAGGACT	CAGGACTGCCTGTGCCCAACGGAACAACCCAAGGACT	15: 78,967,039	probably benign	Het
Zfhx3	AACAGCAGC	AACAGCAGCTACAGCAGC	8: 108,956,096	probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,825,731	probably null	Het

Other mutations in Lor

Allele	Source	Chr	Coord	Type	Predicted Effect
FR4589:Lor	UTSW	3	92081894	frame shift	probably null
R2932:Lor	UTSW	3	92081878	small deletion	probably benign
R4677:Lor	UTSW	3	92081743	missense	unknown
R5454:Lor	UTSW	3	92081482	missense	unknown
R5851:Lor	UTSW	3	92080539	missense	unknown
R6267:Lor	UTSW	3	92081812	nonsense	probably null
R7219:Lor	UTSW	3	92081398	missense	unknown
R7430:Lor	UTSW	3	92081899	missense	unknown
R7780:Lor	UTSW	3	92081153	nonsense	probably null
R8983:Lor	UTSW	3	92081139	missense	unknown
RF027:Lor	UTSW	3	92081876	small deletion	probably benign
RF031:Lor	UTSW	3	92081876	small deletion	probably benign
X0057:Lor	UTSW	3	92081878	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCTCCGGAGTACTTGACGC -3'
(R):5'- TGCATCTGCCACCTTCACAG -3'

Sequencing Primer
(F):5'- GAGTACTTGACGCCCCCAC -3'
(R):5'- AGCGTCCTCTTGCTGCTG -3'

Posted On

2019-12-04