Mutagenetix > Incidental Mutation

Incidental Mutation 'R4648:Lamb3'

350458

Institutional Source

Beutler Lab

Gene Symbol

Lamb3

Ensembl Gene

ENSMUSG00000026639

Gene Name

laminin, beta 3

Synonyms

nicein, 125kDa

MMRRC Submission

041909-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.666) question?

Stock #

R4648 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

192976661-193026186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 193013665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 513 (I513N)

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: I513N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000016315
Gene: ENSMUSG00000026639
AA Change: I513N

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: I513N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123875
Gene: ENSMUSG00000026639
AA Change: I513N

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: I513N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142053
Gene: ENSMUSG00000026639
AA Change: I513N

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 101,904,515 (GRCm39)	N132K	possibly damaging	Het
2010315B03Rik	T	A	9: 124,056,228 (GRCm39)	Y232F	probably benign	Het
2310079G19Rik	T	C	16: 88,424,255 (GRCm39)	S79G	probably benign	Het
4930568D16Rik	T	A	2: 35,244,458 (GRCm39)	Y298F	probably damaging	Het
Alpk2	A	G	18: 65,482,953 (GRCm39)	F352L	probably damaging	Het
Angpt1	T	A	15: 42,539,580 (GRCm39)	Y93F	probably benign	Het
Ankrd33b	T	C	15: 31,325,170 (GRCm39)	*129W	probably null	Het
Atp5pf	T	C	16: 84,625,343 (GRCm39)	M87V	probably benign	Het
Atp8b3	A	G	10: 80,361,457 (GRCm39)	S822P	possibly damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bbs2	A	T	8: 94,807,507 (GRCm39)	V429E	probably damaging	Het
Bccip	C	T	7: 133,316,628 (GRCm39)	L83F	probably damaging	Het
Brd9	G	A	13: 74,088,895 (GRCm39)	V198I	probably benign	Het
C1galt1c1	A	T	X: 37,720,349 (GRCm39)	S216T	probably benign	Het
Calhm1	A	G	19: 47,132,240 (GRCm39)	L125P	probably damaging	Het
Ccdc110	A	T	8: 46,395,705 (GRCm39)	Q532L	possibly damaging	Het
Cdh19	G	A	1: 110,852,907 (GRCm39)	L343F	probably benign	Het
Cep350	A	G	1: 155,778,344 (GRCm39)	S1653P	possibly damaging	Het
Cmtm4	A	G	8: 105,082,952 (GRCm39)	I135T	possibly damaging	Het
Cmya5	A	G	13: 93,230,336 (GRCm39)	L1584P	possibly damaging	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Crp	A	G	1: 172,525,704 (GRCm39)	M1V	probably null	Het
Csmd1	G	A	8: 16,048,788 (GRCm39)	Q2305*	probably null	Het
Cyp2c38	T	A	19: 39,449,132 (GRCm39)	I74F	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcaf1	A	T	9: 106,742,876 (GRCm39)		probably benign	Het
Dhx16	C	G	17: 36,196,527 (GRCm39)	A565G	probably benign	Het
Dock7	C	A	4: 98,857,881 (GRCm39)	E1448*	probably null	Het
Dpf2	C	T	19: 5,957,109 (GRCm39)	R38H	probably damaging	Het
E030030I06Rik	T	A	10: 22,024,744 (GRCm39)	R56S	unknown	Het
Etnk1	A	G	6: 143,141,000 (GRCm39)	Y248C	probably damaging	Het
Ext1	A	G	15: 52,953,383 (GRCm39)	S494P	possibly damaging	Het
Gk2	T	C	5: 97,603,579 (GRCm39)	S420G	probably benign	Het
Gm26596	T	C	10: 112,765,064 (GRCm39)		probably benign	Het
Gm5414	G	T	15: 101,536,543 (GRCm39)	N27K	possibly damaging	Het
Gskip	A	G	12: 105,664,988 (GRCm39)	D9G	probably benign	Het
H2-K2	T	A	17: 34,194,989 (GRCm39)		noncoding transcript	Het
Hk1	T	G	10: 62,140,558 (GRCm39)	S105R	probably benign	Het
Hmg20b	T	A	10: 81,184,416 (GRCm39)	Q129L	probably damaging	Het
Idnk	A	G	13: 58,310,683 (GRCm39)	D67G	probably benign	Het
Igfbp5	G	T	1: 72,903,222 (GRCm39)	H118N	probably benign	Het
Irf4	A	T	13: 30,947,580 (GRCm39)	Y427F	probably benign	Het
Khdc3	A	G	9: 73,009,868 (GRCm39)	E26G	possibly damaging	Het
Kif7	T	C	7: 79,358,939 (GRCm39)	D512G	probably damaging	Het
Lipo3	A	G	19: 33,760,860 (GRCm39)	L174P	probably damaging	Het
Lnx1	C	T	5: 74,771,457 (GRCm39)	V350I	probably benign	Het
Map3k21	A	G	8: 126,668,850 (GRCm39)	D812G	probably benign	Het
Mast2	G	T	4: 116,172,036 (GRCm39)	Y637*	probably null	Het
Matn2	T	C	15: 34,428,679 (GRCm39)	I681T	probably damaging	Het
Med18	A	T	4: 132,190,274 (GRCm39)	V37D	possibly damaging	Het
Mip	T	A	10: 128,062,922 (GRCm39)	H122Q	probably benign	Het
Mmp13	A	T	9: 7,274,233 (GRCm39)	D180V	probably damaging	Het
Mpg	C	A	11: 32,180,034 (GRCm39)	C187*	probably null	Het
Mtmr14	A	G	6: 113,237,567 (GRCm39)	E256G	probably benign	Het
Myo7b	C	T	18: 32,100,178 (GRCm39)		probably null	Het
Nhsl3	G	T	4: 129,115,733 (GRCm39)	T977K	probably benign	Het
Nmt1	T	A	11: 102,954,743 (GRCm39)	V425D	probably damaging	Het
Nynrin	T	A	14: 56,110,351 (GRCm39)	Y1819*	probably null	Het
Or10ak16	A	G	4: 118,751,147 (GRCm39)	N289S	possibly damaging	Het
Or4c107	T	A	2: 88,789,556 (GRCm39)	F249I	probably damaging	Het
Or5i1	T	C	2: 87,613,565 (GRCm39)	V227A	possibly damaging	Het
Otof	T	C	5: 30,540,914 (GRCm39)	E875G	possibly damaging	Het
Paqr3	T	A	5: 97,256,069 (GRCm39)	R102*	probably null	Het
Phc1	T	C	6: 122,298,872 (GRCm39)	I699V	possibly damaging	Het
Prkdc	T	G	16: 15,634,638 (GRCm39)	D3594E	probably benign	Het
Pstpip1	A	T	9: 56,032,502 (GRCm39)	D246V	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Ror2	A	T	13: 53,439,536 (GRCm39)	C9*	probably null	Het
Setd1b	C	T	5: 123,286,175 (GRCm39)	A407V	unknown	Het
Slc26a4	T	G	12: 31,590,525 (GRCm39)	D376A	possibly damaging	Het
Smarcad1	A	G	6: 65,044,073 (GRCm39)	E215G	probably benign	Het
Spag16	G	A	1: 69,866,194 (GRCm39)	R11Q	probably null	Het
Sult1d1	T	A	5: 87,713,954 (GRCm39)	Q30L	probably benign	Het
Tbc1d5	A	G	17: 51,043,251 (GRCm39)	C746R	probably benign	Het
Tdh	A	G	14: 63,731,205 (GRCm39)	L323P	possibly damaging	Het
Tet2	A	T	3: 133,193,843 (GRCm39)	M197K	probably benign	Het
Tnn	T	C	1: 159,973,612 (GRCm39)	M252V	probably benign	Het
Trdn	G	T	10: 33,071,977 (GRCm39)	E215*	probably null	Het
Trem1	G	A	17: 48,551,590 (GRCm39)	V84I	probably benign	Het
Tspan5	T	C	3: 138,604,076 (GRCm39)	F154L	probably damaging	Het
Usp45	A	G	4: 21,825,044 (GRCm39)	R647G	probably benign	Het
Usp50	T	A	2: 126,619,953 (GRCm39)	I120F	probably damaging	Het
Vil1	T	C	1: 74,471,457 (GRCm39)	M746T	probably benign	Het
Washc4	T	A	10: 83,410,407 (GRCm39)	M665K	possibly damaging	Het
Zfp750	T	C	11: 121,402,706 (GRCm39)	T681A	probably benign	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
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
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'- CCTAGTTTTGGGGAGTACCAG -3'
(R):5'- GCCAGGCAGTCTTCAAGTATAGATAC -3'

Posted On

2015-10-08