Mutagenetix > Incidental Mutation

Incidental Mutation 'R1175:Lamc1'

99882

Institutional Source

Beutler Lab

Gene Symbol

Lamc1

Ensembl Gene

ENSMUSG00000026478

Gene Name

laminin, gamma 1

Synonyms

laminin B2, Lamb2

MMRRC Submission

039248-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1175 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

153218922-153332786 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 153247231 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027752]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027752

SMART Domains

Protein: ENSMUSP00000027752
Gene: ENSMUSG00000026478

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
LamNT	42	282	1.97e-150	SMART
EGF_Lam	284	337	7.18e-7	SMART
EGF_Lam	340	393	7.93e-9	SMART
EGF_Lam	396	440	2.11e-13	SMART
EGF_Lam	443	490	2.87e-15	SMART
LamB	551	676	5.52e-48	SMART
Pfam:Laminin_EGF	683	718	1.3e-4	PFAM
EGF_Lam	722	768	2.38e-12	SMART
EGF_Lam	771	823	1.39e-4	SMART
EGF_Lam	826	879	8.05e-10	SMART
EGF_Lam	882	930	8.9e-12	SMART
EGF_Lam	933	978	1.26e-11	SMART
EGF_Lam	981	1026	7.4e-9	SMART
coiled coil region	1063	1594	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159251

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 88.0%

Validation Efficiency

100% (74/74)

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, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have 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 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]
PHENOTYPE: Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	T	A	16: 17,117,582	H214L	probably benign	Het
3110043O21Rik	C	A	4: 35,218,630	E76D	probably damaging	Het
4921507P07Rik	T	A	6: 50,589,141	K118M	probably damaging	Het
A430078G23Rik	T	A	8: 3,389,023		probably benign	Het
Abca17	T	C	17: 24,289,351	E1070G	possibly damaging	Het
Accsl	A	T	2: 93,866,244		probably benign	Het
Akp3	G	A	1: 87,127,871	G547R	unknown	Het
Anapc1	C	A	2: 128,680,188	C150F	probably damaging	Het
Borcs5	T	A	6: 134,710,133	N150K	probably damaging	Het
Cdh7	G	A	1: 110,061,132	V255I	probably benign	Het
Cntnap5c	C	A	17: 58,364,246	T1143K	possibly damaging	Het
Col7a1	A	C	9: 108,955,334	T137P	unknown	Het
Defb8	C	T	8: 19,445,894	G50E	probably damaging	Het
Dimt1	T	A	13: 106,949,685		probably benign	Het
Dnajb11	T	A	16: 22,870,673	D281E	probably damaging	Het
Eci2	G	T	13: 34,993,104	N24K	probably damaging	Het
Fbn1	A	T	2: 125,394,687	C358S	probably benign	Het
Fbxl13	A	T	5: 21,620,604		probably benign	Het
Fbxw11	T	C	11: 32,711,922	C121R	probably damaging	Het
Fsd2	T	C	7: 81,559,770	D108G	probably benign	Het
Gab1	C	A	8: 80,784,842	R458L	probably damaging	Het
Ghrhr	T	A	6: 55,388,269	L416*	probably null	Het
Glipr1l2	C	A	10: 112,083,466	L31I	possibly damaging	Het
Gm1818	A	G	12: 48,556,199		noncoding transcript	Het
Gm19965	T	A	1: 116,820,820		probably benign	Het
Gpr149	A	G	3: 62,604,467	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,225,713	I131T	probably damaging	Het
Itpkc	T	C	7: 27,227,770	I240V	probably benign	Het
Jakmip3	A	G	7: 139,027,786	D552G	probably damaging	Het
Kank4	T	C	4: 98,765,569	Y874C	probably damaging	Het
Kdm3a	T	C	6: 71,600,027	E768G	possibly damaging	Het
Klf6	A	G	13: 5,861,712	D25G	probably benign	Het
Laptm4a	T	C	12: 8,936,716	V258A	probably damaging	Het
Map3k19	A	G	1: 127,823,880	V578A	probably benign	Het
Mast1	T	C	8: 84,925,327	E342G	probably benign	Het
Mgat5b	T	C	11: 116,977,796	L515P	probably damaging	Het
Mink1	A	G	11: 70,611,340	D985G	probably benign	Het
Mphosph9	A	G	5: 124,315,676	V191A	possibly damaging	Het
Muc6	C	T	7: 141,648,101	G708S	probably damaging	Het
Papd5	T	A	8: 88,252,007	F445L	probably damaging	Het
Pcnt	A	T	10: 76,393,044		probably null	Het
Psmd8	A	T	7: 29,176,173	Y174N	probably damaging	Het
Ptgdr2	C	A	19: 10,940,928	R270S	possibly damaging	Het
Rasal2	A	G	1: 157,147,648	M1172T	probably damaging	Het
Rif1	A	G	2: 52,107,628		probably benign	Het
Rnf123	C	T	9: 108,077,373	R48H	probably benign	Het
Rsrc1	T	C	3: 67,356,218		probably benign	Het
Rxfp2	T	C	5: 150,051,556	V210A	probably benign	Het
Serpinb9d	C	T	13: 33,200,625	P195L	probably benign	Het
Sis	A	G	3: 72,958,104		probably benign	Het
Skint4	T	C	4: 112,124,596	M246T	probably benign	Het
Snrnp200	C	A	2: 127,229,077	R1093S	probably damaging	Het
Sp100	A	G	1: 85,701,420	N471D	possibly damaging	Het
Ssxb8	T	G	X: 8,689,823	H88P	probably damaging	Het
Sufu	T	C	19: 46,401,264		probably null	Het
Svs1	C	A	6: 48,990,239	P707H	probably damaging	Het
Synpo2l	G	A	14: 20,668,167	T10I	possibly damaging	Het
Tdo2	A	T	3: 81,974,376	S40R	probably damaging	Het
Terb1	G	A	8: 104,484,306	T363I	probably benign	Het
Timd4	C	T	11: 46,817,671	P175S	probably damaging	Het
Tlr3	C	A	8: 45,397,134	V833L	probably damaging	Het
Tpst2	T	A	5: 112,308,045	M150K	probably damaging	Het
Trim67	T	A	8: 124,817,035	V378E	probably damaging	Het
Tyrp1	C	T	4: 80,844,868	Q331*	probably null	Het
Ubap2l	A	T	3: 90,023,500	S413T	probably benign	Het
Uimc1	G	A	13: 55,028,602	T701I	possibly damaging	Het
Vangl2	G	T	1: 172,004,786	T501N	probably damaging	Het
Vmn1r60	A	G	7: 5,544,622	S160P	probably benign	Het
Vmn2r66	G	T	7: 85,005,591	D503E	probably benign	Het
Vmn2r72	T	A	7: 85,751,944	E89V	probably damaging	Het
Zfp457	G	A	13: 67,293,684	P180S	probably damaging	Het

Other mutations in Lamc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Lamc1	APN	1	153240495	missense	probably damaging	1.00
IGL01397:Lamc1	APN	1	153251134	missense	probably damaging	1.00
IGL01661:Lamc1	APN	1	153221573	missense	possibly damaging	0.89
IGL01894:Lamc1	APN	1	153247082	missense	possibly damaging	0.51
IGL02000:Lamc1	APN	1	153240433	missense	probably damaging	1.00
IGL02649:Lamc1	APN	1	153247042	missense	possibly damaging	0.78
IGL02749:Lamc1	APN	1	153249853	missense	possibly damaging	0.51
IGL02819:Lamc1	APN	1	153250661	missense	probably damaging	1.00
IGL02831:Lamc1	APN	1	153247055	missense	probably benign	0.00
IGL03069:Lamc1	APN	1	153239381	missense	probably damaging	1.00
IGL03143:Lamc1	APN	1	153332274	missense	probably benign	0.00
IGL03166:Lamc1	APN	1	153332301	missense	probably benign	0.01
IGL03285:Lamc1	APN	1	153227685	missense	possibly damaging	0.96
IGL03294:Lamc1	APN	1	153262646	missense	probably damaging	1.00
pride	UTSW	1	153247284	missense	probably benign	0.01
Stratum	UTSW	1	153251124	nonsense	probably null
tier	UTSW	1	153250522	missense	probably damaging	1.00
PIT4280001:Lamc1	UTSW	1	153243471	missense	probably damaging	1.00
R0003:Lamc1	UTSW	1	153262439	missense	probably damaging	0.99
R0003:Lamc1	UTSW	1	153262439	missense	probably damaging	0.99
R0027:Lamc1	UTSW	1	153262583	missense	probably damaging	1.00
R0060:Lamc1	UTSW	1	153241868	unclassified	probably benign
R0078:Lamc1	UTSW	1	153229190	missense	probably damaging	0.96
R0157:Lamc1	UTSW	1	153262607	missense	probably benign	0.00
R0282:Lamc1	UTSW	1	153255312	missense	probably benign
R0374:Lamc1	UTSW	1	153251065	splice site	probably benign
R0494:Lamc1	UTSW	1	153246936	critical splice donor site	probably null
R0502:Lamc1	UTSW	1	153246932	splice site	probably benign
R0755:Lamc1	UTSW	1	153247450	missense	possibly damaging	0.94
R0791:Lamc1	UTSW	1	153234580	missense	possibly damaging	0.94
R0791:Lamc1	UTSW	1	153234595	missense	probably damaging	1.00
R0791:Lamc1	UTSW	1	153234612	missense	probably benign	0.01
R0792:Lamc1	UTSW	1	153234580	missense	possibly damaging	0.94
R0792:Lamc1	UTSW	1	153234595	missense	probably damaging	1.00
R0792:Lamc1	UTSW	1	153234612	missense	probably benign	0.01
R0892:Lamc1	UTSW	1	153332254	missense	possibly damaging	0.95
R0941:Lamc1	UTSW	1	153332274	missense	possibly damaging	0.72
R0961:Lamc1	UTSW	1	153221646	frame shift	probably null
R0961:Lamc1	UTSW	1	153221700	missense	probably benign	0.03
R0963:Lamc1	UTSW	1	153243386	missense	probably benign
R1127:Lamc1	UTSW	1	153250459	missense	possibly damaging	0.69
R1173:Lamc1	UTSW	1	153247231	splice site	probably benign
R1449:Lamc1	UTSW	1	153250495	missense	probably benign
R1481:Lamc1	UTSW	1	153221634	missense	probably damaging	1.00
R1565:Lamc1	UTSW	1	153242743	missense	probably benign	0.34
R1583:Lamc1	UTSW	1	153243478	critical splice acceptor site	probably null
R1643:Lamc1	UTSW	1	153258072	splice site	probably benign
R1652:Lamc1	UTSW	1	153249646	missense	probably damaging	1.00
R1691:Lamc1	UTSW	1	153247249	missense	probably benign	0.04
R1854:Lamc1	UTSW	1	153249872	missense	probably damaging	0.99
R2018:Lamc1	UTSW	1	153242632	missense	probably benign	0.07
R2170:Lamc1	UTSW	1	153249142	missense	probably benign	0.07
R2410:Lamc1	UTSW	1	153247395	missense	possibly damaging	0.61
R3438:Lamc1	UTSW	1	153226415	missense	probably benign	0.04
R3615:Lamc1	UTSW	1	153251150	missense	probably damaging	1.00
R3616:Lamc1	UTSW	1	153251150	missense	probably damaging	1.00
R3699:Lamc1	UTSW	1	153255205	missense	possibly damaging	0.79
R3811:Lamc1	UTSW	1	153262708	splice site	probably null
R4285:Lamc1	UTSW	1	153234552	missense	probably damaging	0.99
R4431:Lamc1	UTSW	1	153221528	missense	probably damaging	1.00
R4579:Lamc1	UTSW	1	153247269	missense	probably damaging	1.00
R4625:Lamc1	UTSW	1	153242696	missense	probably benign	0.04
R4649:Lamc1	UTSW	1	153228777	missense	probably damaging	0.99
R4650:Lamc1	UTSW	1	153228777	missense	probably damaging	0.99
R4651:Lamc1	UTSW	1	153228777	missense	probably damaging	0.99
R4652:Lamc1	UTSW	1	153228777	missense	probably damaging	0.99
R4653:Lamc1	UTSW	1	153228777	missense	probably damaging	0.99
R4784:Lamc1	UTSW	1	153231740	missense	probably damaging	1.00
R4785:Lamc1	UTSW	1	153231740	missense	probably damaging	1.00
R4853:Lamc1	UTSW	1	153229100	missense	possibly damaging	0.89
R5216:Lamc1	UTSW	1	153227696	missense	probably damaging	1.00
R5217:Lamc1	UTSW	1	153227696	missense	probably damaging	1.00
R5218:Lamc1	UTSW	1	153227696	missense	probably damaging	1.00
R5219:Lamc1	UTSW	1	153227696	missense	probably damaging	1.00
R5468:Lamc1	UTSW	1	153233564	missense	probably damaging	0.99
R5597:Lamc1	UTSW	1	153251970	missense	probably damaging	1.00
R5754:Lamc1	UTSW	1	153247284	missense	probably benign	0.01
R6233:Lamc1	UTSW	1	153223666	missense	probably benign
R6431:Lamc1	UTSW	1	153221671	missense	probably benign	0.21
R6636:Lamc1	UTSW	1	153241975	missense	possibly damaging	0.93
R6888:Lamc1	UTSW	1	153262492	missense	probably damaging	1.00
R7161:Lamc1	UTSW	1	153226454	missense	probably damaging	1.00
R7240:Lamc1	UTSW	1	153234650	missense	possibly damaging	0.82
R7388:Lamc1	UTSW	1	153249076	missense	probably damaging	1.00
R7474:Lamc1	UTSW	1	153332265	missense	possibly damaging	0.81
R7570:Lamc1	UTSW	1	153243275	missense	possibly damaging	0.64
R7583:Lamc1	UTSW	1	153243232	missense	possibly damaging	0.71
R7597:Lamc1	UTSW	1	153240454	missense	possibly damaging	0.94
R7635:Lamc1	UTSW	1	153249060	missense	probably damaging	1.00
R7976:Lamc1	UTSW	1	153247268	missense	probably damaging	1.00
R8012:Lamc1	UTSW	1	153221612	missense	probably benign	0.04
R8207:Lamc1	UTSW	1	153250522	missense	probably damaging	1.00
R8219:Lamc1	UTSW	1	153247327	missense	probably damaging	1.00
R8227:Lamc1	UTSW	1	153223754	missense	probably benign	0.04
R8315:Lamc1	UTSW	1	153243421	missense	probably benign	0.00
R8417:Lamc1	UTSW	1	153230769	missense	probably damaging	1.00
R8685:Lamc1	UTSW	1	153233542	missense	probably benign	0.31
R8827:Lamc1	UTSW	1	153221678	missense	probably damaging	1.00
R8995:Lamc1	UTSW	1	153332247	missense	probably benign	0.00
R9061:Lamc1	UTSW	1	153251124	nonsense	probably null
R9141:Lamc1	UTSW	1	153247450	missense	probably benign	0.01
R9187:Lamc1	UTSW	1	153221688	nonsense	probably null
R9206:Lamc1	UTSW	1	153250451	missense	probably damaging	1.00
R9222:Lamc1	UTSW	1	153243341	missense	probably damaging	0.96
R9297:Lamc1	UTSW	1	153252000	missense	probably damaging	1.00
R9318:Lamc1	UTSW	1	153252000	missense	probably damaging	1.00
R9377:Lamc1	UTSW	1	153239263	missense	probably benign

Predicted Primers

Posted On

2014-01-15