Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01618:Lamc3'

92460

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lamc3

Ensembl Gene

ENSMUSG00000026840

Gene Name

laminin gamma 3

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01618

Quality Score

Status

Chromosome

Chromosomal Location

31887291-31946539 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31912107 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 509 (I509N)

Ref Sequence

ENSEMBL: ENSMUSP00000118745 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028187] [ENSMUST00000138325]

AlphaFold

Q9R0B6

Predicted Effect

probably damaging
Transcript: ENSMUST00000028187
AA Change: I509N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028187
Gene: ENSMUSG00000026840
AA Change: I509N

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
LamNT	38	278	4.32e-115	SMART
EGF_Lam	280	333	4.19e-8	SMART
EGF_Lam	336	389	4.81e-8	SMART
EGF_Lam	392	436	2.52e-11	SMART
EGF_Lam	439	486	1.16e-10	SMART
low complexity region	538	549	N/A	INTRINSIC
low complexity region	591	603	N/A	INTRINSIC
EGF_like	649	716	3.69e0	SMART
EGF_Lam	719	764	3.1e-11	SMART
EGF_Lam	767	819	3.43e-4	SMART
EGF_Lam	822	875	2.16e-10	SMART
EGF_Lam	878	925	6.29e-12	SMART
EGF_Lam	928	973	1.62e-14	SMART
EGF_Lam	976	1021	1.02e-6	SMART
low complexity region	1032	1046	N/A	INTRINSIC
coiled coil region	1119	1150	N/A	INTRINSIC
low complexity region	1234	1247	N/A	INTRINSIC
low complexity region	1397	1407	N/A	INTRINSIC
coiled coil region	1444	1467	N/A	INTRINSIC
coiled coil region	1528	1575	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000138325
AA Change: I509N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118745
Gene: ENSMUSG00000026840
AA Change: I509N

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
LamNT	38	278	4.32e-115	SMART
EGF_Lam	280	333	4.19e-8	SMART
EGF_Lam	336	389	4.81e-8	SMART
EGF_Lam	392	436	2.52e-11	SMART
EGF_Lam	439	486	1.16e-10	SMART
low complexity region	538	549	N/A	INTRINSIC
low complexity region	591	603	N/A	INTRINSIC
EGF_like	649	716	3.69e0	SMART
EGF_Lam	719	764	3.1e-11	SMART
EGF_Lam	767	819	3.43e-4	SMART
EGF_Lam	822	875	2.16e-10	SMART
EGF_Lam	878	925	6.29e-12	SMART
EGF_Lam	928	973	1.62e-14	SMART
EGF_Lam	976	1021	1.02e-6	SMART
low complexity region	1032	1046	N/A	INTRINSIC
coiled coil region	1119	1150	N/A	INTRINSIC
low complexity region	1245	1258	N/A	INTRINSIC
low complexity region	1408	1418	N/A	INTRINSIC
coiled coil region	1455	1478	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.] Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal amacrine cell morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	C	T	19: 55,272,833	A74V	probably benign	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aldh1a3	G	A	7: 66,409,230	T239I	probably damaging	Het
Anxa9	A	G	3: 95,300,536		probably null	Het
Atp5k	C	A	5: 108,434,033	K28N	probably damaging	Het
C9	T	G	15: 6,459,668	Y169D	probably benign	Het
Cbwd1	T	C	19: 24,940,776	E210G	possibly damaging	Het
Chat	T	A	14: 32,446,892		probably null	Het
Csmd3	C	T	15: 48,011,083	E706K	probably benign	Het
Ctbs	A	G	3: 146,455,112	K145E	probably benign	Het
Dennd5a	A	G	7: 109,934,095	M156T	probably damaging	Het
Dhx29	A	G	13: 112,965,222	Y1275C	probably damaging	Het
Dpp10	A	T	1: 123,367,867	F517Y	probably benign	Het
Dst	G	A	1: 34,188,909	W1536*	probably null	Het
Galc	T	C	12: 98,252,081	T171A	possibly damaging	Het
Gsap	T	C	5: 21,226,248	I190T	probably damaging	Het
Hars2	A	T	18: 36,789,577	R388*	probably null	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Itgbl1	T	A	14: 123,827,799	S122T	possibly damaging	Het
Jhy	G	T	9: 40,960,964	T83K	possibly damaging	Het
Kcne4	A	T	1: 78,817,808	M58L	possibly damaging	Het
Lpar6	T	C	14: 73,239,066	S156P	probably damaging	Het
Man2c1	T	C	9: 57,141,556		probably benign	Het
March11	T	C	15: 26,409,199	I328T	possibly damaging	Het
Mc3r	T	A	2: 172,249,370	C171S	probably benign	Het
Muc4	A	T	16: 32,756,627	Q2167L	unknown	Het
Myom1	T	C	17: 71,099,993	V1135A	possibly damaging	Het
Nectin1	C	T	9: 43,791,258	R101*	probably null	Het
Nxpe4	T	C	9: 48,394,140	S277P	possibly damaging	Het
Olfr1152	A	C	2: 87,868,144	D51A	probably damaging	Het
Olfr1459	T	A	19: 13,146,250	K136N	probably benign	Het
Olfr395	T	C	11: 73,907,477	N5S	probably damaging	Het
Olfr437	T	A	6: 43,167,703	V215E	probably damaging	Het
Olfr584	G	A	7: 103,086,375	V281I	probably benign	Het
Pappa2	G	T	1: 158,857,378	N730K	probably damaging	Het
Prepl	A	G	17: 85,066,281	V586A	probably damaging	Het
Prrc2a	T	C	17: 35,149,553	Y2098C	probably damaging	Het
Rdh16	G	A	10: 127,801,307	C37Y	probably damaging	Het
Rnd1	A	T	15: 98,673,865	M100K	probably benign	Het
Sema3c	A	G	5: 17,672,506	N204D	probably damaging	Het
Susd4	A	G	1: 182,858,461		probably null	Het
Taar7f	G	T	10: 24,050,341	A278S	possibly damaging	Het
Tle4	T	A	19: 14,544,814	M122L	probably benign	Het
Trim9	C	T	12: 70,248,351	V662I	probably benign	Het
Vmn2r10	C	A	5: 109,002,479	C233F	probably damaging	Het
Vmn2r98	A	C	17: 19,065,259	T114P	possibly damaging	Het
Zfyve21	C	T	12: 111,827,813		probably benign	Het

Other mutations in Lamc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Lamc3	APN	2	31900581	missense	probably damaging	0.99
IGL00823:Lamc3	APN	2	31918521	missense	probably damaging	1.00
IGL01020:Lamc3	APN	2	31914656	missense	probably benign	0.07
IGL01086:Lamc3	APN	2	31898476	missense	probably damaging	1.00
IGL01655:Lamc3	APN	2	31898278	missense	probably damaging	1.00
IGL02093:Lamc3	APN	2	31887655	missense	probably damaging	1.00
IGL02309:Lamc3	APN	2	31914604	splice site	probably benign
IGL02340:Lamc3	APN	2	31918457	missense	probably damaging	1.00
IGL02410:Lamc3	APN	2	31905965	missense	probably damaging	0.99
IGL02548:Lamc3	APN	2	31920662	missense	probably benign	0.00
IGL02679:Lamc3	APN	2	31945398	missense	probably benign	0.01
IGL02751:Lamc3	APN	2	31920704	missense	probably benign	0.07
IGL02820:Lamc3	APN	2	31923022	missense	probably damaging	1.00
IGL02926:Lamc3	APN	2	31935725	splice site	probably benign
IGL02926:Lamc3	APN	2	31935726	splice site	probably benign
IGL03090:Lamc3	APN	2	31908698	splice site	probably benign
IGL03258:Lamc3	APN	2	31887683	missense	probably damaging	1.00
R0005:Lamc3	UTSW	2	31922428	missense	probably benign	0.07
R0137:Lamc3	UTSW	2	31908616	missense	probably damaging	1.00
R0179:Lamc3	UTSW	2	31915084	splice site	probably benign
R0244:Lamc3	UTSW	2	31940721	missense	probably damaging	1.00
R0512:Lamc3	UTSW	2	31937968	missense	probably damaging	1.00
R1052:Lamc3	UTSW	2	31928802	missense	probably benign	0.03
R1142:Lamc3	UTSW	2	31940721	missense	probably damaging	1.00
R1366:Lamc3	UTSW	2	31928847	missense	probably damaging	1.00
R1463:Lamc3	UTSW	2	31887411	missense	probably benign
R1515:Lamc3	UTSW	2	31940751	missense	probably damaging	1.00
R1642:Lamc3	UTSW	2	31915996	missense	probably damaging	1.00
R1692:Lamc3	UTSW	2	31921781	missense	probably null	0.01
R1707:Lamc3	UTSW	2	31912129	critical splice donor site	probably null
R1714:Lamc3	UTSW	2	31940757	missense	probably benign	0.02
R1838:Lamc3	UTSW	2	31925582	missense	possibly damaging	0.89
R2940:Lamc3	UTSW	2	31940702	missense	probably benign	0.02
R3177:Lamc3	UTSW	2	31908625	missense	probably damaging	1.00
R3277:Lamc3	UTSW	2	31908625	missense	probably damaging	1.00
R3846:Lamc3	UTSW	2	31924592	missense	probably benign	0.01
R4065:Lamc3	UTSW	2	31945258	missense	probably benign	0.00
R4089:Lamc3	UTSW	2	31920508	nonsense	probably null
R4373:Lamc3	UTSW	2	31898232	missense	probably damaging	1.00
R4394:Lamc3	UTSW	2	31931952	missense	probably benign
R4395:Lamc3	UTSW	2	31931952	missense	probably benign
R4397:Lamc3	UTSW	2	31931952	missense	probably benign
R4746:Lamc3	UTSW	2	31905614	missense	possibly damaging	0.77
R4948:Lamc3	UTSW	2	31940736	missense	probably benign	0.02
R4960:Lamc3	UTSW	2	31915954	missense	probably benign	0.00
R5025:Lamc3	UTSW	2	31908669	missense	probably benign	0.13
R5062:Lamc3	UTSW	2	31905667	missense	possibly damaging	0.60
R5170:Lamc3	UTSW	2	31887344	start codon destroyed	probably benign	0.03
R5286:Lamc3	UTSW	2	31918596	missense	probably damaging	1.00
R5457:Lamc3	UTSW	2	31931985	missense	probably benign
R5655:Lamc3	UTSW	2	31925717	missense	probably benign	0.01
R5928:Lamc3	UTSW	2	31921709	missense	probably benign	0.00
R6018:Lamc3	UTSW	2	31905712	missense	probably damaging	1.00
R6479:Lamc3	UTSW	2	31887401	missense	probably benign
R6601:Lamc3	UTSW	2	31920532	missense	possibly damaging	0.94
R6920:Lamc3	UTSW	2	31908689	missense	probably damaging	1.00
R6924:Lamc3	UTSW	2	31938069	missense	probably benign
R7114:Lamc3	UTSW	2	31930645	missense	probably damaging	0.99
R7305:Lamc3	UTSW	2	31930702	missense	probably benign	0.39
R7559:Lamc3	UTSW	2	31922368	missense	probably benign	0.00
R7714:Lamc3	UTSW	2	31922267	splice site	probably null
R7787:Lamc3	UTSW	2	31900539	missense	probably damaging	0.99
R7819:Lamc3	UTSW	2	31921763	missense	probably benign
R8171:Lamc3	UTSW	2	31914971	missense	probably benign	0.06
R8208:Lamc3	UTSW	2	31887414	missense	possibly damaging	0.47
R8412:Lamc3	UTSW	2	31912116	missense	probably damaging	0.98
R9058:Lamc3	UTSW	2	31908641	missense	probably benign	0.01
R9242:Lamc3	UTSW	2	31898311	missense	probably benign	0.14
R9269:Lamc3	UTSW	2	31923005	missense	probably benign	0.11
R9269:Lamc3	UTSW	2	31928896	nonsense	probably null
X0010:Lamc3	UTSW	2	31938012	missense	probably damaging	1.00

Posted On

2013-12-09