Mutagenetix > Incidental Mutation

Incidental Mutation 'R0502:Lamc1'

47174

Institutional Source

Beutler Lab

Gene Symbol

Lamc1

Ensembl Gene

ENSMUSG00000026478

Gene Name

laminin, gamma 1

Synonyms

laminin B2, Lamb2

MMRRC Submission

038697-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0502 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

153094668-153208532 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 153122678 bp (GRCm39)

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: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,322 (GRCm39)	H755R	possibly damaging	Het
Ano1	A	G	7: 144,150,952 (GRCm39)	L821P	probably damaging	Het
Apol10b	T	A	15: 77,476,349 (GRCm39)		probably benign	Het
Atp2c2	A	G	8: 120,461,316 (GRCm39)	E279G	probably null	Het
Ccar2	A	G	14: 70,378,431 (GRCm39)	S625P	probably benign	Het
Ccdc110	A	G	8: 46,387,761 (GRCm39)		probably benign	Het
Cep350	A	T	1: 155,776,629 (GRCm39)		probably null	Het
Chd3	A	G	11: 69,244,931 (GRCm39)	V1203A	probably damaging	Het
Col24a1	A	G	3: 145,251,071 (GRCm39)		probably benign	Het
Col6a6	A	T	9: 105,644,550 (GRCm39)	M1246K	probably benign	Het
Crot	A	G	5: 9,026,075 (GRCm39)	V304A	possibly damaging	Het
Dapk1	T	A	13: 60,878,662 (GRCm39)		probably null	Het
Dicer1	A	T	12: 104,671,319 (GRCm39)	S984T	probably damaging	Het
Dmbt1	G	A	7: 130,699,403 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,258,704 (GRCm39)	E1965V	probably damaging	Het
Dpp4	G	T	2: 62,195,332 (GRCm39)	N315K	probably damaging	Het
Eeig2	G	A	3: 108,900,001 (GRCm39)	R116C	probably damaging	Het
Fat4	T	A	3: 39,057,073 (GRCm39)	S4256R	probably damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Gpatch4	A	G	3: 87,962,672 (GRCm39)	D295G	probably benign	Het
Gpbar1	A	T	1: 74,318,551 (GRCm39)	I265F	probably benign	Het
Gria1	T	G	11: 57,080,542 (GRCm39)	V175G	probably damaging	Het
Hacl1	A	T	14: 31,344,941 (GRCm39)		probably benign	Het
Hnrnpc	A	G	14: 52,312,629 (GRCm39)		probably benign	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Ifnar1	T	A	16: 91,298,639 (GRCm39)	C419S	probably damaging	Het
Irx4	T	A	13: 73,414,703 (GRCm39)		probably null	Het
Itga2	T	G	13: 114,982,392 (GRCm39)	N1038H	probably benign	Het
Kif16b	C	T	2: 142,554,075 (GRCm39)	D908N	probably benign	Het
Lrig3	A	G	10: 125,844,605 (GRCm39)	T690A	probably damaging	Het
Lrp2	T	C	2: 69,341,361 (GRCm39)	K940E	probably damaging	Het
Macf1	A	G	4: 123,363,608 (GRCm39)	S1775P	probably damaging	Het
Mrps27	G	T	13: 99,546,303 (GRCm39)		probably benign	Het
Ncam1	A	G	9: 49,481,118 (GRCm39)		probably benign	Het
Nopchap1	A	G	10: 83,197,920 (GRCm39)	D42G	probably damaging	Het
Or2z2	T	C	11: 58,346,140 (GRCm39)	I212V	possibly damaging	Het
Or51a5	A	T	7: 102,771,643 (GRCm39)	M112K	possibly damaging	Het
Pbrm1	T	G	14: 30,786,777 (GRCm39)	D631E	probably benign	Het
Pdc	A	T	1: 150,204,165 (GRCm39)		probably benign	Het
Pkd1	T	C	17: 24,793,766 (GRCm39)	S1818P	probably damaging	Het
Ptpru	T	C	4: 131,520,954 (GRCm39)	N784S	probably benign	Het
Rab35	G	A	5: 115,783,723 (GRCm39)	R170Q	probably benign	Het
Rerg	A	T	6: 137,033,305 (GRCm39)	C123*	probably null	Het
Ros1	A	G	10: 52,070,919 (GRCm39)		probably benign	Het
Siglece	A	G	7: 43,309,355 (GRCm39)	Y68H	probably damaging	Het
Slc28a2	T	A	2: 122,288,762 (GRCm39)		probably null	Het
Slc4a11	T	C	2: 130,530,077 (GRCm39)	K234E	probably damaging	Het
Sqor	C	T	2: 122,639,970 (GRCm39)	P158S	probably benign	Het
Tcerg1	C	T	18: 42,656,021 (GRCm39)	P110S	unknown	Het
Tm6sf2	T	A	8: 70,530,591 (GRCm39)	Y224N	probably damaging	Het
Tmem39b	A	C	4: 129,580,779 (GRCm39)	Y238D	possibly damaging	Het
Ttll10	T	C	4: 156,132,005 (GRCm39)		probably benign	Het
Ubap2l	A	T	3: 89,916,520 (GRCm39)	L898Q	probably damaging	Het
Uggt1	A	T	1: 36,199,027 (GRCm39)	V1207E	probably damaging	Het
Uhrf2	A	G	19: 30,070,176 (GRCm39)	D775G	probably damaging	Het
Utp25	A	T	1: 192,797,136 (GRCm39)		probably benign	Het
Vmn1r196	G	A	13: 22,477,557 (GRCm39)	M65I	probably benign	Het
Vmn1r87	T	G	7: 12,865,583 (GRCm39)	T235P	probably damaging	Het
Vmn2r96	T	A	17: 18,804,262 (GRCm39)	M504K	probably benign	Het
Zdbf2	A	T	1: 63,344,449 (GRCm39)	I943F	possibly damaging	Het
Zfp78	A	G	7: 6,376,157 (GRCm39)	D22G	probably damaging	Het
Zfp827	C	T	8: 79,905,706 (GRCm39)		probably null	Het
Zfyve9	A	T	4: 108,576,961 (GRCm39)	L40*	probably null	Het

Other mutations in Lamc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Lamc1	APN	1	153,116,241 (GRCm39)	missense	probably damaging	1.00
IGL01397:Lamc1	APN	1	153,126,880 (GRCm39)	missense	probably damaging	1.00
IGL01661:Lamc1	APN	1	153,097,319 (GRCm39)	missense	possibly damaging	0.89
IGL01894:Lamc1	APN	1	153,122,828 (GRCm39)	missense	possibly damaging	0.51
IGL02000:Lamc1	APN	1	153,116,179 (GRCm39)	missense	probably damaging	1.00
IGL02649:Lamc1	APN	1	153,122,788 (GRCm39)	missense	possibly damaging	0.78
IGL02749:Lamc1	APN	1	153,125,599 (GRCm39)	missense	possibly damaging	0.51
IGL02819:Lamc1	APN	1	153,126,407 (GRCm39)	missense	probably damaging	1.00
IGL02831:Lamc1	APN	1	153,122,801 (GRCm39)	missense	probably benign	0.00
IGL03069:Lamc1	APN	1	153,115,127 (GRCm39)	missense	probably damaging	1.00
IGL03143:Lamc1	APN	1	153,208,020 (GRCm39)	missense	probably benign	0.00
IGL03166:Lamc1	APN	1	153,208,047 (GRCm39)	missense	probably benign	0.01
IGL03285:Lamc1	APN	1	153,103,431 (GRCm39)	missense	possibly damaging	0.96
IGL03294:Lamc1	APN	1	153,138,392 (GRCm39)	missense	probably damaging	1.00
pride	UTSW	1	153,123,030 (GRCm39)	missense	probably benign	0.01
Stratum	UTSW	1	153,126,870 (GRCm39)	nonsense	probably null
tier	UTSW	1	153,126,268 (GRCm39)	missense	probably damaging	1.00
PIT4280001:Lamc1	UTSW	1	153,119,217 (GRCm39)	missense	probably damaging	1.00
R0003:Lamc1	UTSW	1	153,138,185 (GRCm39)	missense	probably damaging	0.99
R0003:Lamc1	UTSW	1	153,138,185 (GRCm39)	missense	probably damaging	0.99
R0027:Lamc1	UTSW	1	153,138,329 (GRCm39)	missense	probably damaging	1.00
R0060:Lamc1	UTSW	1	153,117,614 (GRCm39)	unclassified	probably benign
R0078:Lamc1	UTSW	1	153,104,936 (GRCm39)	missense	probably damaging	0.96
R0157:Lamc1	UTSW	1	153,138,353 (GRCm39)	missense	probably benign	0.00
R0282:Lamc1	UTSW	1	153,131,058 (GRCm39)	missense	probably benign
R0374:Lamc1	UTSW	1	153,126,811 (GRCm39)	splice site	probably benign
R0494:Lamc1	UTSW	1	153,122,682 (GRCm39)	critical splice donor site	probably null
R0755:Lamc1	UTSW	1	153,123,196 (GRCm39)	missense	possibly damaging	0.94
R0791:Lamc1	UTSW	1	153,110,358 (GRCm39)	missense	probably benign	0.01
R0791:Lamc1	UTSW	1	153,110,341 (GRCm39)	missense	probably damaging	1.00
R0791:Lamc1	UTSW	1	153,110,326 (GRCm39)	missense	possibly damaging	0.94
R0792:Lamc1	UTSW	1	153,110,341 (GRCm39)	missense	probably damaging	1.00
R0792:Lamc1	UTSW	1	153,110,326 (GRCm39)	missense	possibly damaging	0.94
R0792:Lamc1	UTSW	1	153,110,358 (GRCm39)	missense	probably benign	0.01
R0892:Lamc1	UTSW	1	153,208,000 (GRCm39)	missense	possibly damaging	0.95
R0941:Lamc1	UTSW	1	153,208,020 (GRCm39)	missense	possibly damaging	0.72
R0961:Lamc1	UTSW	1	153,097,392 (GRCm39)	frame shift	probably null
R0961:Lamc1	UTSW	1	153,097,446 (GRCm39)	missense	probably benign	0.03
R0963:Lamc1	UTSW	1	153,119,132 (GRCm39)	missense	probably benign
R1127:Lamc1	UTSW	1	153,126,205 (GRCm39)	missense	possibly damaging	0.69
R1173:Lamc1	UTSW	1	153,122,977 (GRCm39)	splice site	probably benign
R1175:Lamc1	UTSW	1	153,122,977 (GRCm39)	splice site	probably benign
R1449:Lamc1	UTSW	1	153,126,241 (GRCm39)	missense	probably benign
R1481:Lamc1	UTSW	1	153,097,380 (GRCm39)	missense	probably damaging	1.00
R1565:Lamc1	UTSW	1	153,118,489 (GRCm39)	missense	probably benign	0.34
R1583:Lamc1	UTSW	1	153,119,224 (GRCm39)	critical splice acceptor site	probably null
R1643:Lamc1	UTSW	1	153,133,818 (GRCm39)	splice site	probably benign
R1652:Lamc1	UTSW	1	153,125,392 (GRCm39)	missense	probably damaging	1.00
R1691:Lamc1	UTSW	1	153,122,995 (GRCm39)	missense	probably benign	0.04
R1854:Lamc1	UTSW	1	153,125,618 (GRCm39)	missense	probably damaging	0.99
R2018:Lamc1	UTSW	1	153,118,378 (GRCm39)	missense	probably benign	0.07
R2170:Lamc1	UTSW	1	153,124,888 (GRCm39)	missense	probably benign	0.07
R2410:Lamc1	UTSW	1	153,123,141 (GRCm39)	missense	possibly damaging	0.61
R3438:Lamc1	UTSW	1	153,102,161 (GRCm39)	missense	probably benign	0.04
R3615:Lamc1	UTSW	1	153,126,896 (GRCm39)	missense	probably damaging	1.00
R3616:Lamc1	UTSW	1	153,126,896 (GRCm39)	missense	probably damaging	1.00
R3699:Lamc1	UTSW	1	153,130,951 (GRCm39)	missense	possibly damaging	0.79
R3811:Lamc1	UTSW	1	153,138,454 (GRCm39)	splice site	probably null
R4285:Lamc1	UTSW	1	153,110,298 (GRCm39)	missense	probably damaging	0.99
R4431:Lamc1	UTSW	1	153,097,274 (GRCm39)	missense	probably damaging	1.00
R4579:Lamc1	UTSW	1	153,123,015 (GRCm39)	missense	probably damaging	1.00
R4625:Lamc1	UTSW	1	153,118,442 (GRCm39)	missense	probably benign	0.04
R4649:Lamc1	UTSW	1	153,104,523 (GRCm39)	missense	probably damaging	0.99
R4650:Lamc1	UTSW	1	153,104,523 (GRCm39)	missense	probably damaging	0.99
R4651:Lamc1	UTSW	1	153,104,523 (GRCm39)	missense	probably damaging	0.99
R4652:Lamc1	UTSW	1	153,104,523 (GRCm39)	missense	probably damaging	0.99
R4653:Lamc1	UTSW	1	153,104,523 (GRCm39)	missense	probably damaging	0.99
R4784:Lamc1	UTSW	1	153,107,486 (GRCm39)	missense	probably damaging	1.00
R4785:Lamc1	UTSW	1	153,107,486 (GRCm39)	missense	probably damaging	1.00
R4853:Lamc1	UTSW	1	153,104,846 (GRCm39)	missense	possibly damaging	0.89
R5216:Lamc1	UTSW	1	153,103,442 (GRCm39)	missense	probably damaging	1.00
R5217:Lamc1	UTSW	1	153,103,442 (GRCm39)	missense	probably damaging	1.00
R5218:Lamc1	UTSW	1	153,103,442 (GRCm39)	missense	probably damaging	1.00
R5219:Lamc1	UTSW	1	153,103,442 (GRCm39)	missense	probably damaging	1.00
R5468:Lamc1	UTSW	1	153,109,310 (GRCm39)	missense	probably damaging	0.99
R5597:Lamc1	UTSW	1	153,127,716 (GRCm39)	missense	probably damaging	1.00
R5754:Lamc1	UTSW	1	153,123,030 (GRCm39)	missense	probably benign	0.01
R6233:Lamc1	UTSW	1	153,099,412 (GRCm39)	missense	probably benign
R6431:Lamc1	UTSW	1	153,097,417 (GRCm39)	missense	probably benign	0.21
R6636:Lamc1	UTSW	1	153,117,721 (GRCm39)	missense	possibly damaging	0.93
R6888:Lamc1	UTSW	1	153,138,238 (GRCm39)	missense	probably damaging	1.00
R7161:Lamc1	UTSW	1	153,102,200 (GRCm39)	missense	probably damaging	1.00
R7240:Lamc1	UTSW	1	153,110,396 (GRCm39)	missense	possibly damaging	0.82
R7388:Lamc1	UTSW	1	153,124,822 (GRCm39)	missense	probably damaging	1.00
R7474:Lamc1	UTSW	1	153,208,011 (GRCm39)	missense	possibly damaging	0.81
R7570:Lamc1	UTSW	1	153,119,021 (GRCm39)	missense	possibly damaging	0.64
R7583:Lamc1	UTSW	1	153,118,978 (GRCm39)	missense	possibly damaging	0.71
R7597:Lamc1	UTSW	1	153,116,200 (GRCm39)	missense	possibly damaging	0.94
R7635:Lamc1	UTSW	1	153,124,806 (GRCm39)	missense	probably damaging	1.00
R7976:Lamc1	UTSW	1	153,123,014 (GRCm39)	missense	probably damaging	1.00
R8012:Lamc1	UTSW	1	153,097,358 (GRCm39)	missense	probably benign	0.04
R8207:Lamc1	UTSW	1	153,126,268 (GRCm39)	missense	probably damaging	1.00
R8219:Lamc1	UTSW	1	153,123,073 (GRCm39)	missense	probably damaging	1.00
R8227:Lamc1	UTSW	1	153,099,500 (GRCm39)	missense	probably benign	0.04
R8315:Lamc1	UTSW	1	153,119,167 (GRCm39)	missense	probably benign	0.00
R8417:Lamc1	UTSW	1	153,106,515 (GRCm39)	missense	probably damaging	1.00
R8685:Lamc1	UTSW	1	153,109,288 (GRCm39)	missense	probably benign	0.31
R8827:Lamc1	UTSW	1	153,097,424 (GRCm39)	missense	probably damaging	1.00
R8995:Lamc1	UTSW	1	153,207,993 (GRCm39)	missense	probably benign	0.00
R9061:Lamc1	UTSW	1	153,126,870 (GRCm39)	nonsense	probably null
R9141:Lamc1	UTSW	1	153,123,196 (GRCm39)	missense	probably benign	0.01
R9187:Lamc1	UTSW	1	153,097,434 (GRCm39)	nonsense	probably null
R9206:Lamc1	UTSW	1	153,126,197 (GRCm39)	missense	probably damaging	1.00
R9222:Lamc1	UTSW	1	153,119,087 (GRCm39)	missense	probably damaging	0.96
R9297:Lamc1	UTSW	1	153,127,746 (GRCm39)	missense	probably damaging	1.00
R9318:Lamc1	UTSW	1	153,127,746 (GRCm39)	missense	probably damaging	1.00
R9377:Lamc1	UTSW	1	153,115,009 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCACACAGCCTTGAACAGAG -3'
(R):5'- GTACCTGTAATGGGCACAGTGAGAC -3'

Sequencing Primer
(F):5'- CTTGAACAGAGCACTCAGTTTC -3'
(R):5'- ATAGTGTATCTCCACTCTCGCAATAG -3'

Posted On

2013-06-12