Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02677:Lamb3'

303192

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lamb3

Ensembl Gene

ENSMUSG00000026639

Gene Name

laminin, beta 3

Synonyms

nicein, 125kDa

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.686) question?

Stock #

IGL02677

Quality Score

Status

Chromosome

Chromosomal Location

193207699-193343878 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 193339522 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1011 (V1011I)

Ref Sequence

ENSEMBL: ENSMUSP00000142053 (fasta)

Gene Model

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

AlphaFold

Q61087

Predicted Effect

probably benign
Transcript: ENSMUST00000016315
AA Change: V1011I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000016315
Gene: ENSMUSG00000026639
AA Change: V1011I

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 benign
Transcript: ENSMUST00000159955
AA Change: V1011I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000123875
Gene: ENSMUSG00000026639
AA Change: V1011I

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 benign
Transcript: ENSMUST00000194677
AA Change: V1011I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000142053
Gene: ENSMUSG00000026639
AA Change: V1011I

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	G	T	7: 43,501,095	Y84*	probably null	Het
4931406P16Rik	T	A	7: 34,242,409		probably benign	Het
Adam5	A	G	8: 24,812,379		probably benign	Het
Aipl1	T	C	11: 72,029,396	E282G	possibly damaging	Het
Akp3	A	G	1: 87,125,272	D61G	probably damaging	Het
Anpep	A	G	7: 79,838,730	S451P	probably damaging	Het
Csnka2ip	A	G	16: 64,478,312	L119P	probably damaging	Het
Ddx19a	T	C	8: 110,989,609	E53G	probably benign	Het
Ddx50	C	T	10: 62,616,293	R116Q	unknown	Het
Ddx60	A	T	8: 61,988,132	E1078D	probably damaging	Het
Dpy19l1	T	C	9: 24,485,072	D116G	probably damaging	Het
Dsg4	A	G	18: 20,464,876	T668A	possibly damaging	Het
Dspp	A	G	5: 104,175,977	T329A	possibly damaging	Het
Eftud2	T	C	11: 102,846,614	T554A	probably damaging	Het
Enpp1	T	C	10: 24,679,185		probably benign	Het
Ext2	A	T	2: 93,707,245	F599I	probably damaging	Het
Fahd1	A	T	17: 24,849,530	I191N	probably damaging	Het
Fcrls	A	T	3: 87,259,387	S100T	probably benign	Het
Fras1	T	A	5: 96,545,024	C181S	probably damaging	Het
Gcnt4	A	G	13: 96,947,233	I346V	probably benign	Het
Gfra1	G	A	19: 58,453,355	T48I	probably damaging	Het
Kcnma1	A	G	14: 23,463,156	Y392H	probably damaging	Het
Klc2	T	C	19: 5,111,668	Y298C	probably damaging	Het
Ldb1	T	C	19: 46,036,155		probably benign	Het
Mcph1	A	G	8: 18,625,593	K11E	probably damaging	Het
Myc	A	G	15: 61,989,664	H374R	probably damaging	Het
Myom1	A	G	17: 71,084,349	Y853C	probably damaging	Het
Olfr1282	A	T	2: 111,335,802	I92N	probably damaging	Het
Pakap	C	T	4: 57,856,263	P572S	probably benign	Het
Pclo	A	G	5: 14,676,929		probably benign	Het
Pde3a	G	A	6: 141,405,172		probably benign	Het
Per1	T	C	11: 69,106,660	V887A	probably benign	Het
Prokr1	G	A	6: 87,588,368		probably benign	Het
Rb1cc1	A	G	1: 6,249,419	I1021V	probably benign	Het
Ryr1	T	C	7: 29,110,608	E344G	probably benign	Het
Sec24c	A	T	14: 20,689,642	D529V	probably damaging	Het
Slc1a6	T	C	10: 78,789,064	V101A	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Tap2	G	A	17: 34,212,047	V374M	probably benign	Het
Tex15	T	A	8: 33,571,080	D179E	probably benign	Het
Tmem8b	T	C	4: 43,686,092	L241P	probably damaging	Het
Tmprss11g	T	C	5: 86,492,290	D160G	probably benign	Het
Trim30a	C	T	7: 104,435,913	C30Y	probably damaging	Het
Ttn	A	G	2: 76,771,496		probably benign	Het
Ush2a	A	G	1: 188,734,685	R2849G	probably damaging	Het
Usp5	A	G	6: 124,819,426	V570A	probably damaging	Het
Vipr1	T	C	9: 121,660,283		probably benign	Het
Zc2hc1c	A	C	12: 85,290,076	D169A	probably benign	Het

Other mutations in Lamb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Lamb3	APN	1	193320447	missense	probably damaging	1.00
IGL00898:Lamb3	APN	1	193338883	missense	possibly damaging	0.81
IGL01599:Lamb3	APN	1	193343412	missense	probably benign
IGL02108:Lamb3	APN	1	193332222	missense	probably damaging	1.00
IGL02218:Lamb3	APN	1	193328633	critical splice acceptor site	probably null
IGL02437:Lamb3	APN	1	193327945	missense	probably damaging	1.00
IGL02659:Lamb3	APN	1	193332161	missense	probably damaging	1.00
IGL02815:Lamb3	APN	1	193325555	splice site	probably benign
G1patch:Lamb3	UTSW	1	193304582	missense	probably benign	0.05
R0238:Lamb3	UTSW	1	193321053	missense	probably damaging	1.00
R0238:Lamb3	UTSW	1	193321053	missense	probably damaging	1.00
R0239:Lamb3	UTSW	1	193321053	missense	probably damaging	1.00
R0239:Lamb3	UTSW	1	193321053	missense	probably damaging	1.00
R0240:Lamb3	UTSW	1	193335027	missense	probably damaging	1.00
R0240:Lamb3	UTSW	1	193335027	missense	probably damaging	1.00
R0265:Lamb3	UTSW	1	193320531	missense	probably damaging	1.00
R0455:Lamb3	UTSW	1	193343392	missense	probably damaging	0.99
R0647:Lamb3	UTSW	1	193330796	missense	probably damaging	0.99
R0669:Lamb3	UTSW	1	193332330	missense	probably damaging	1.00
R0826:Lamb3	UTSW	1	193330908	nonsense	probably null
R1552:Lamb3	UTSW	1	193330759	splice site	probably null
R1560:Lamb3	UTSW	1	193339402	missense	probably benign	0.05
R1593:Lamb3	UTSW	1	193330796	missense	probably damaging	0.99
R1599:Lamb3	UTSW	1	193320493	missense	probably damaging	1.00
R1831:Lamb3	UTSW	1	193334879	missense	probably damaging	0.99
R1848:Lamb3	UTSW	1	193334616	missense	possibly damaging	0.96
R2117:Lamb3	UTSW	1	193334181	missense	probably benign	0.00
R2147:Lamb3	UTSW	1	193327904	missense	probably benign	0.00
R2148:Lamb3	UTSW	1	193327904	missense	probably benign	0.00
R2879:Lamb3	UTSW	1	193330784	missense	possibly damaging	0.67
R3019:Lamb3	UTSW	1	193331409	critical splice donor site	probably null
R4380:Lamb3	UTSW	1	193331375	missense	probably benign	0.10
R4648:Lamb3	UTSW	1	193331357	missense	probably damaging	0.99
R4758:Lamb3	UTSW	1	193339961	missense	possibly damaging	0.65
R4790:Lamb3	UTSW	1	193339886	missense	probably damaging	1.00
R4895:Lamb3	UTSW	1	193332314	nonsense	probably null
R5316:Lamb3	UTSW	1	193330193	missense	probably benign	0.00
R5457:Lamb3	UTSW	1	193325994	missense	probably damaging	1.00
R5952:Lamb3	UTSW	1	193332362	missense	probably benign	0.04
R5965:Lamb3	UTSW	1	193343460	missense	probably damaging	1.00
R6334:Lamb3	UTSW	1	193335474	missense	probably damaging	0.96
R6522:Lamb3	UTSW	1	193335453	missense	probably benign	0.01
R6725:Lamb3	UTSW	1	193304582	missense	probably benign	0.05
R6791:Lamb3	UTSW	1	193334861	missense	possibly damaging	0.93
R6828:Lamb3	UTSW	1	193335448	missense	probably benign	0.00
R7143:Lamb3	UTSW	1	193304565	missense	probably damaging	1.00
R7329:Lamb3	UTSW	1	193320540	missense	possibly damaging	0.89
R7439:Lamb3	UTSW	1	193332166	missense	possibly damaging	0.80
R7556:Lamb3	UTSW	1	193332449	missense	probably benign
R8051:Lamb3	UTSW	1	193330067	missense	possibly damaging	0.80
R8220:Lamb3	UTSW	1	193334248	missense	probably damaging	1.00
R8719:Lamb3	UTSW	1	193323791	missense	probably damaging	1.00
R8878:Lamb3	UTSW	1	193330816	missense	probably damaging	1.00
R8880:Lamb3	UTSW	1	193321055	missense	possibly damaging	0.74
R8885:Lamb3	UTSW	1	193334874	missense	probably benign	0.04
R8893:Lamb3	UTSW	1	193332336	missense	probably damaging	1.00
R8934:Lamb3	UTSW	1	193338860	missense	probably damaging	1.00
R8944:Lamb3	UTSW	1	193332217	nonsense	probably null
R9043:Lamb3	UTSW	1	193325611	nonsense	probably null
R9219:Lamb3	UTSW	1	193327924	missense	probably damaging	1.00
R9329:Lamb3	UTSW	1	193332357	missense	probably benign	0.28
R9402:Lamb3	UTSW	1	193331396	missense
R9415:Lamb3	UTSW	1	193326011	missense	probably benign	0.13
R9555:Lamb3	UTSW	1	193328805	missense	possibly damaging	0.67
X0066:Lamb3	UTSW	1	193339414	nonsense	probably null

Posted On

2015-04-16