Mutagenetix > Incidental Mutation

Incidental Mutation 'R3019:Lamb3'

257701

Institutional Source

Beutler Lab

Gene Symbol

Lamb3

Ensembl Gene

ENSMUSG00000026639

Gene Name

laminin, beta 3

Synonyms

nicein, 125kDa

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.666) question?

Stock #

R3019 (G1)

Quality Score

143

Status

Not validated

Chromosome

Chromosomal Location

192976661-193026186 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 193013717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016315] [ENSMUST00000159955] [ENSMUST00000194677]

AlphaFold

Q61087

Predicted Effect

probably null
Transcript: ENSMUST00000016315

SMART Domains

Protein: ENSMUSP00000016315
Gene: ENSMUSG00000026639

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LamNT	20	248	7.63e-84	SMART
EGF_Lam	250	310	1.67e-7	SMART
EGF_Lam	313	373	1.14e-9	SMART
EGF_Lam	376	425	5.56e-13	SMART
EGF_Lam	428	475	6.05e-14	SMART
EGF_Lam	478	528	5e-6	SMART
EGF_Lam	531	575	3.01e-9	SMART
low complexity region	662	673	N/A	INTRINSIC
low complexity region	727	763	N/A	INTRINSIC
coiled coil region	830	879	N/A	INTRINSIC
coiled coil region	949	979	N/A	INTRINSIC
coiled coil region	1037	1090	N/A	INTRINSIC
low complexity region	1116	1126	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000159955

SMART Domains

Protein: ENSMUSP00000123875
Gene: ENSMUSG00000026639

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LamNT	20	248	7.63e-84	SMART
EGF_Lam	250	310	1.67e-7	SMART
EGF_Lam	313	373	1.14e-9	SMART
EGF_Lam	376	425	5.56e-13	SMART
EGF_Lam	428	475	6.05e-14	SMART
EGF_Lam	478	528	5e-6	SMART
EGF_Lam	531	575	3.01e-9	SMART
low complexity region	662	673	N/A	INTRINSIC
low complexity region	727	763	N/A	INTRINSIC
coiled coil region	830	879	N/A	INTRINSIC
coiled coil region	949	979	N/A	INTRINSIC
coiled coil region	1037	1090	N/A	INTRINSIC
low complexity region	1116	1126	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000194677

SMART Domains

Protein: ENSMUSP00000142053
Gene: ENSMUSG00000026639

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LamNT	20	248	7.63e-84	SMART
EGF_Lam	250	310	1.67e-7	SMART
EGF_Lam	313	373	1.14e-9	SMART
EGF_Lam	376	425	5.56e-13	SMART
EGF_Lam	428	475	6.05e-14	SMART
EGF_Lam	478	528	5e-6	SMART
EGF_Lam	531	575	3.01e-9	SMART
low complexity region	662	673	N/A	INTRINSIC
low complexity region	727	763	N/A	INTRINSIC
coiled coil region	830	879	N/A	INTRINSIC
coiled coil region	949	979	N/A	INTRINSIC
coiled coil region	1037	1090	N/A	INTRINSIC
low complexity region	1116	1126	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a spontaneous intracisternal A particle sequence insertion exhibit blistering of the skin and mucosal surfaces with abnormal hemidesmosomes. Mutants die neonatally, usually without feeding. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atr	C	A	9: 95,787,871 (GRCm39)	A1488E	possibly damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Birc2	C	T	9: 7,857,390 (GRCm39)		probably null	Het
Cntnap5a	T	C	1: 116,029,299 (GRCm39)	L251P	probably benign	Het
Fryl	G	T	5: 73,240,193 (GRCm39)	H1406N	probably benign	Het
Heatr6	T	A	11: 83,669,658 (GRCm39)		probably null	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Lhx5	G	T	5: 120,578,070 (GRCm39)	A297S	probably benign	Het
Med18	G	A	4: 132,187,128 (GRCm39)	R124C	probably damaging	Het
Synpo2	A	G	3: 122,907,228 (GRCm39)	V696A	probably damaging	Het
Tgfbr3	C	A	5: 107,285,412 (GRCm39)	R563L	possibly damaging	Het
Tm6sf1	A	G	7: 81,525,813 (GRCm39)	T207A	probably benign	Het
Vmn1r56	C	A	7: 5,199,061 (GRCm39)	M185I	probably benign	Het
Vmn1r64	A	G	7: 5,887,226 (GRCm39)	S106P	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het

Other mutations in Lamb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Lamb3	APN	1	193,002,755 (GRCm39)	missense	probably damaging	1.00
IGL00898:Lamb3	APN	1	193,021,191 (GRCm39)	missense	possibly damaging	0.81
IGL01599:Lamb3	APN	1	193,025,720 (GRCm39)	missense	probably benign
IGL02108:Lamb3	APN	1	193,014,530 (GRCm39)	missense	probably damaging	1.00
IGL02218:Lamb3	APN	1	193,010,941 (GRCm39)	critical splice acceptor site	probably null
IGL02437:Lamb3	APN	1	193,010,253 (GRCm39)	missense	probably damaging	1.00
IGL02659:Lamb3	APN	1	193,014,469 (GRCm39)	missense	probably damaging	1.00
IGL02677:Lamb3	APN	1	193,021,830 (GRCm39)	missense	probably benign	0.01
IGL02815:Lamb3	APN	1	193,007,863 (GRCm39)	splice site	probably benign
G1patch:Lamb3	UTSW	1	192,986,890 (GRCm39)	missense	probably benign	0.05
R0238:Lamb3	UTSW	1	193,003,361 (GRCm39)	missense	probably damaging	1.00
R0238:Lamb3	UTSW	1	193,003,361 (GRCm39)	missense	probably damaging	1.00
R0239:Lamb3	UTSW	1	193,003,361 (GRCm39)	missense	probably damaging	1.00
R0239:Lamb3	UTSW	1	193,003,361 (GRCm39)	missense	probably damaging	1.00
R0240:Lamb3	UTSW	1	193,017,335 (GRCm39)	missense	probably damaging	1.00
R0240:Lamb3	UTSW	1	193,017,335 (GRCm39)	missense	probably damaging	1.00
R0265:Lamb3	UTSW	1	193,002,839 (GRCm39)	missense	probably damaging	1.00
R0455:Lamb3	UTSW	1	193,025,700 (GRCm39)	missense	probably damaging	0.99
R0647:Lamb3	UTSW	1	193,013,104 (GRCm39)	missense	probably damaging	0.99
R0669:Lamb3	UTSW	1	193,014,638 (GRCm39)	missense	probably damaging	1.00
R0826:Lamb3	UTSW	1	193,013,216 (GRCm39)	nonsense	probably null
R1552:Lamb3	UTSW	1	193,013,067 (GRCm39)	splice site	probably null
R1560:Lamb3	UTSW	1	193,021,710 (GRCm39)	missense	probably benign	0.05
R1593:Lamb3	UTSW	1	193,013,104 (GRCm39)	missense	probably damaging	0.99
R1599:Lamb3	UTSW	1	193,002,801 (GRCm39)	missense	probably damaging	1.00
R1831:Lamb3	UTSW	1	193,017,187 (GRCm39)	missense	probably damaging	0.99
R1848:Lamb3	UTSW	1	193,016,924 (GRCm39)	missense	possibly damaging	0.96
R2117:Lamb3	UTSW	1	193,016,489 (GRCm39)	missense	probably benign	0.00
R2147:Lamb3	UTSW	1	193,010,212 (GRCm39)	missense	probably benign	0.00
R2148:Lamb3	UTSW	1	193,010,212 (GRCm39)	missense	probably benign	0.00
R2879:Lamb3	UTSW	1	193,013,092 (GRCm39)	missense	possibly damaging	0.67
R4380:Lamb3	UTSW	1	193,013,683 (GRCm39)	missense	probably benign	0.10
R4648:Lamb3	UTSW	1	193,013,665 (GRCm39)	missense	probably damaging	0.99
R4758:Lamb3	UTSW	1	193,022,269 (GRCm39)	missense	possibly damaging	0.65
R4790:Lamb3	UTSW	1	193,022,194 (GRCm39)	missense	probably damaging	1.00
R4895:Lamb3	UTSW	1	193,014,622 (GRCm39)	nonsense	probably null
R5316:Lamb3	UTSW	1	193,012,501 (GRCm39)	missense	probably benign	0.00
R5457:Lamb3	UTSW	1	193,008,302 (GRCm39)	missense	probably damaging	1.00
R5952:Lamb3	UTSW	1	193,014,670 (GRCm39)	missense	probably benign	0.04
R5965:Lamb3	UTSW	1	193,025,768 (GRCm39)	missense	probably damaging	1.00
R6334:Lamb3	UTSW	1	193,017,782 (GRCm39)	missense	probably damaging	0.96
R6522:Lamb3	UTSW	1	193,017,761 (GRCm39)	missense	probably benign	0.01
R6725:Lamb3	UTSW	1	192,986,890 (GRCm39)	missense	probably benign	0.05
R6791:Lamb3	UTSW	1	193,017,169 (GRCm39)	missense	possibly damaging	0.93
R6828:Lamb3	UTSW	1	193,017,756 (GRCm39)	missense	probably benign	0.00
R7143:Lamb3	UTSW	1	192,986,873 (GRCm39)	missense	probably damaging	1.00
R7329:Lamb3	UTSW	1	193,002,848 (GRCm39)	missense	possibly damaging	0.89
R7439:Lamb3	UTSW	1	193,014,474 (GRCm39)	missense	possibly damaging	0.80
R7556:Lamb3	UTSW	1	193,014,757 (GRCm39)	missense	probably benign
R8051:Lamb3	UTSW	1	193,012,375 (GRCm39)	missense	possibly damaging	0.80
R8220:Lamb3	UTSW	1	193,016,556 (GRCm39)	missense	probably damaging	1.00
R8719:Lamb3	UTSW	1	193,006,099 (GRCm39)	missense	probably damaging	1.00
R8878:Lamb3	UTSW	1	193,013,124 (GRCm39)	missense	probably damaging	1.00
R8880:Lamb3	UTSW	1	193,003,363 (GRCm39)	missense	possibly damaging	0.74
R8885:Lamb3	UTSW	1	193,017,182 (GRCm39)	missense	probably benign	0.04
R8893:Lamb3	UTSW	1	193,014,644 (GRCm39)	missense	probably damaging	1.00
R8934:Lamb3	UTSW	1	193,021,168 (GRCm39)	missense	probably damaging	1.00
R8944:Lamb3	UTSW	1	193,014,525 (GRCm39)	nonsense	probably null
R9043:Lamb3	UTSW	1	193,007,919 (GRCm39)	nonsense	probably null
R9219:Lamb3	UTSW	1	193,010,232 (GRCm39)	missense	probably damaging	1.00
R9329:Lamb3	UTSW	1	193,014,665 (GRCm39)	missense	probably benign	0.28
R9402:Lamb3	UTSW	1	193,013,704 (GRCm39)	missense
R9415:Lamb3	UTSW	1	193,008,319 (GRCm39)	missense	probably benign	0.13
R9555:Lamb3	UTSW	1	193,011,113 (GRCm39)	missense	possibly damaging	0.67
X0066:Lamb3	UTSW	1	193,021,722 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTTTGAGTGGGAGCCCTAG -3'
(R):5'- TAGTTAACCTGATCCAGACACAGG -3'

Sequencing Primer
(F):5'- TACCAGGTCTATAGAGCACCAGGTG -3'
(R):5'- CTGATCCAGACACAGGGAGGC -3'

Posted On

2015-01-11