Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00325:Lamb3'

7290

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: 0.666) question?

Stock #

IGL00325

Quality Score

Status

Chromosome

Chromosomal Location

192976661-193026186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 193002755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 67 (C67R)

Ref Sequence

ENSEMBL: ENSMUSP00000142053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016315] [ENSMUST00000159955] [ENSMUST00000192322] [ENSMUST00000194677]

AlphaFold

Q61087

Predicted Effect

probably damaging
Transcript: ENSMUST00000016315
AA Change: C67R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000016315
Gene: ENSMUSG00000026639
AA Change: C67R

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: C67R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123875
Gene: ENSMUSG00000026639
AA Change: C67R

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

noncoding transcript
Transcript: ENSMUST00000161526

Predicted Effect

probably damaging
Transcript: ENSMUST00000192322
AA Change: C67R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141302
Gene: ENSMUSG00000026639
AA Change: C67R

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LamNT	20	244	2.9e-80	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000194677
AA Change: C67R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142053
Gene: ENSMUSG00000026639
AA Change: C67R

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	G	11: 69,773,517 (GRCm39)	S431P	possibly damaging	Het
Arid1b	C	A	17: 5,387,385 (GRCm39)	R1613S	possibly damaging	Het
Atxn2l	T	C	7: 126,097,460 (GRCm39)	D196G	possibly damaging	Het
Bag3	C	A	7: 128,148,065 (GRCm39)	T560K	probably benign	Het
BC051076	A	G	5: 88,112,354 (GRCm39)		probably benign	Het
Becn1	A	T	11: 101,186,448 (GRCm39)	M18K	probably benign	Het
C130050O18Rik	G	A	5: 139,400,493 (GRCm39)	C182Y	probably damaging	Het
Cfap43	A	G	19: 47,811,627 (GRCm39)		probably benign	Het
Cfap97	C	T	8: 46,623,222 (GRCm39)	S204L	probably damaging	Het
Gaa	A	G	11: 119,165,786 (GRCm39)	T100A	probably benign	Het
Gab2	C	T	7: 96,948,465 (GRCm39)	P352S	probably damaging	Het
Gckr	T	A	5: 31,465,111 (GRCm39)	I360N	possibly damaging	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gulo	G	T	14: 66,243,398 (GRCm39)	A40D	probably damaging	Het
Irs1	T	C	1: 82,266,204 (GRCm39)	I671V	probably benign	Het
Itgax	T	C	7: 127,747,481 (GRCm39)	V1028A	possibly damaging	Het
Mpdz	A	T	4: 81,235,868 (GRCm39)	V1237E	probably damaging	Het
Nat8	C	T	6: 85,807,579 (GRCm39)	V185M	probably benign	Het
Ninj2	A	C	6: 120,175,023 (GRCm39)	T65P	probably benign	Het
Nrg2	T	C	18: 36,154,271 (GRCm39)	M549V	probably benign	Het
Nwd2	A	G	5: 63,962,818 (GRCm39)	M801V	probably benign	Het
Pde8b	T	C	13: 95,170,875 (GRCm39)	D589G	probably damaging	Het
Ppp1r35	T	A	5: 137,777,799 (GRCm39)	V155E	probably damaging	Het
Prss36	T	A	7: 127,544,099 (GRCm39)		probably benign	Het
Raver2	A	G	4: 100,960,065 (GRCm39)	K182E	probably damaging	Het
Ring1	T	G	17: 34,241,983 (GRCm39)	E142A	possibly damaging	Het
Sidt2	T	A	9: 45,853,534 (GRCm39)	M689L	possibly damaging	Het
Slc45a4	A	G	15: 73,459,504 (GRCm39)	V95A	probably damaging	Het
Ssc5d	T	C	7: 4,947,480 (GRCm39)	V1278A	possibly damaging	Het
Stk36	A	T	1: 74,673,861 (GRCm39)	K1251N	possibly damaging	Het
Utp14b	T	A	1: 78,642,262 (GRCm39)	S53R	probably damaging	Het
Vmn2r17	A	T	5: 109,575,858 (GRCm39)	E243V	probably benign	Het

Other mutations in Lamb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20