Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02659:Lamb3'

302462

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lamb3

Ensembl Gene

ENSMUSG00000026639

Gene Name

laminin, beta 3

Synonyms

nicein, 125kDa

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.694) question?

Stock #

IGL02659

Quality Score

Status

Chromosome

Chromosomal Location

192976661-193026186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 193014469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 543 (C543S)

Ref Sequence

ENSEMBL: ENSMUSP00000142053 (fasta)

Gene Model

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

AlphaFold

Q61087

Predicted Effect

probably damaging
Transcript: ENSMUST00000016315
AA Change: C543S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000016315
Gene: ENSMUSG00000026639
AA Change: C543S

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 damaging
Transcript: ENSMUST00000159955
AA Change: C543S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123875
Gene: ENSMUSG00000026639
AA Change: C543S

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 damaging
Transcript: ENSMUST00000194677
AA Change: C543S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142053
Gene: ENSMUSG00000026639
AA Change: C543S

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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	T	14: 29,708,298 (GRCm39)	N192I	probably damaging	Het
Arhgap15	A	T	2: 43,953,849 (GRCm39)	I192F	probably damaging	Het
Atp10a	T	C	7: 58,463,379 (GRCm39)	F971L	probably benign	Het
Cacna1e	G	T	1: 154,302,274 (GRCm39)	F1660L	probably damaging	Het
Cep152	G	A	2: 125,421,469 (GRCm39)	T1087M	probably damaging	Het
Ces2b	T	C	8: 105,559,202 (GRCm39)		probably benign	Het
Col19a1	T	C	1: 24,573,115 (GRCm39)	D219G	unknown	Het
Desi2	G	A	1: 178,076,843 (GRCm39)	A116T	probably damaging	Het
Eri2	T	A	7: 119,386,665 (GRCm39)	Q202L	probably damaging	Het
Gtf2ird1	G	A	5: 134,405,895 (GRCm39)	P715L	probably damaging	Het
Higd1c	A	T	15: 100,281,622 (GRCm39)	M249L	probably benign	Het
Il5ra	T	A	6: 106,719,644 (GRCm39)	H63L	possibly damaging	Het
Lnpep	T	A	17: 17,791,162 (GRCm39)	I461F	possibly damaging	Het
Lum	A	G	10: 97,404,609 (GRCm39)	H168R	probably benign	Het
Magi1	T	C	6: 93,762,591 (GRCm39)	E77G	possibly damaging	Het
Mrpl13	T	C	15: 55,421,135 (GRCm39)		probably null	Het
Mtpap	T	A	18: 4,380,703 (GRCm39)	L127*	probably null	Het
Myo15a	T	C	11: 60,382,609 (GRCm39)		probably benign	Het
Nek1	A	G	8: 61,542,514 (GRCm39)	S726G	probably benign	Het
Nlrp5	C	A	7: 23,118,006 (GRCm39)	H577N	probably damaging	Het
Nynrin	G	A	14: 56,103,554 (GRCm39)		probably benign	Het
Or14c40	A	G	7: 86,313,289 (GRCm39)	M140V	probably benign	Het
Or2h15	C	T	17: 38,441,427 (GRCm39)	G219S	possibly damaging	Het
Pappa2	A	T	1: 158,764,364 (GRCm39)	D382E	probably damaging	Het
Plekhg1	T	A	10: 3,907,069 (GRCm39)	L516*	probably null	Het
Prune1	A	G	3: 95,162,711 (GRCm39)	S321P	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Syncrip	G	T	9: 88,338,457 (GRCm39)	R536S	probably benign	Het
Thbs1	T	G	2: 117,945,273 (GRCm39)	V282G	probably benign	Het
Unc13b	C	T	4: 43,235,332 (GRCm39)	R880C	probably damaging	Het
Vmn2r77	T	G	7: 86,449,979 (GRCm39)	I75S	probably benign	Het
Vps13a	A	T	19: 16,630,063 (GRCm39)	I2690K	probably damaging	Het
Zfp286	T	C	11: 62,674,563 (GRCm39)	N94S	possibly damaging	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
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
R3019:Lamb3	UTSW	1	193,013,717 (GRCm39)	critical splice donor site	probably null
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

Posted On

2015-04-16