Incidental Mutation 'R1643:Lamc1'
ID 173652
Institutional Source Beutler Lab
Gene Symbol Lamc1
Ensembl Gene ENSMUSG00000026478
Gene Name laminin, gamma 1
Synonyms laminin B2, Lamb2
MMRRC Submission 039679-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1643 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 153094668-153208532 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 153133818 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

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.5%
Validation Efficiency 99% (74/75)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik T A 16: 3,724,942 (GRCm39) K45* probably null Het
Abcc1 T A 16: 14,231,232 (GRCm39) Y457N probably damaging Het
Actr3b A G 5: 26,017,009 (GRCm39) D19G probably damaging Het
Adam39 T C 8: 41,279,523 (GRCm39) V638A possibly damaging Het
Adamts1 G T 16: 85,593,705 (GRCm39) probably benign Het
AI661453 A G 17: 47,778,791 (GRCm39) probably benign Het
Ank3 G A 10: 69,720,632 (GRCm39) S565N probably benign Het
Casd1 A G 6: 4,621,243 (GRCm39) E267G probably benign Het
Casr T C 16: 36,320,567 (GRCm39) K527R probably damaging Het
Cep128 A C 12: 91,292,306 (GRCm39) S248A probably damaging Het
Clic4 A G 4: 134,966,206 (GRCm39) V50A possibly damaging Het
Cylc2 C T 4: 51,225,173 (GRCm39) A36V probably benign Het
Derl1 T A 15: 57,741,955 (GRCm39) M127L probably benign Het
Dnah6 A G 6: 73,021,735 (GRCm39) V3529A possibly damaging Het
Dock1 G T 7: 134,700,508 (GRCm39) L1089F probably damaging Het
Edil3 T A 13: 89,437,695 (GRCm39) probably null Het
Efcab3 A T 11: 104,589,804 (GRCm39) T134S probably benign Het
Ephb1 A G 9: 101,874,024 (GRCm39) V550A probably damaging Het
Fcho2 G A 13: 98,921,324 (GRCm39) T187I probably benign Het
Gas6 T C 8: 13,515,902 (GRCm39) probably null Het
Gdf7 T C 12: 8,347,971 (GRCm39) Y442C probably damaging Het
Gm11567 G A 11: 99,770,623 (GRCm39) G187E unknown Het
Gm8674 T C 13: 50,055,394 (GRCm39) noncoding transcript Het
Ift80 T A 3: 68,823,490 (GRCm39) I591F probably benign Het
Kcnn3 C T 3: 89,427,804 (GRCm39) S10L unknown Het
Keg1 A G 19: 12,696,406 (GRCm39) I197V probably benign Het
Klhdc9 A G 1: 171,187,034 (GRCm39) probably null Het
Klhl11 A G 11: 100,353,841 (GRCm39) V660A probably benign Het
Lrrc73 G T 17: 46,566,266 (GRCm39) probably null Het
Lrriq1 G A 10: 103,050,685 (GRCm39) S689L probably benign Het
Magi2 A G 5: 20,910,504 (GRCm39) probably benign Het
Meis1 A G 11: 18,966,278 (GRCm39) S32P probably benign Het
Mia2 A G 12: 59,226,631 (GRCm39) probably null Het
Mlph T C 1: 90,869,456 (GRCm39) L486P probably damaging Het
Myh10 A G 11: 68,682,836 (GRCm39) E1090G probably damaging Het
Mylk T C 16: 34,696,005 (GRCm39) S247P probably benign Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Ndufc1 T C 3: 51,315,664 (GRCm39) T25A probably benign Het
Nedd4l A G 18: 65,331,712 (GRCm39) Y636C probably damaging Het
Nfib A T 4: 82,416,916 (GRCm39) Y40N probably damaging Het
Niban3 A G 8: 72,052,808 (GRCm39) D94G probably benign Het
Nisch T C 14: 30,895,125 (GRCm39) D1057G probably damaging Het
P3h2 T C 16: 25,791,041 (GRCm39) H475R probably benign Het
Pde6c C A 19: 38,150,406 (GRCm39) T517K possibly damaging Het
Piezo2 T C 18: 63,215,986 (GRCm39) I994V probably benign Het
Pik3r4 A G 9: 105,564,351 (GRCm39) D1315G possibly damaging Het
Pip5k1c T G 10: 81,150,828 (GRCm39) V46G probably damaging Het
Pole A G 5: 110,465,711 (GRCm39) E1213G probably damaging Het
Prl7d1 T C 13: 27,896,114 (GRCm39) S88G possibly damaging Het
Prodh T A 16: 17,898,933 (GRCm39) N72I probably benign Het
Prrc2a G A 17: 35,375,930 (GRCm39) R907C probably damaging Het
Ptger2 T A 14: 45,226,423 (GRCm39) M1K probably null Het
Samd4b G C 7: 28,123,041 (GRCm39) Q6E probably damaging Het
Sec24a C T 11: 51,595,212 (GRCm39) R916H probably benign Het
Slc12a5 C A 2: 164,835,947 (GRCm39) D865E probably benign Het
Slc17a3 T C 13: 24,041,181 (GRCm39) probably benign Het
Ssrp1 T C 2: 84,871,529 (GRCm39) V317A possibly damaging Het
Stim1 A G 7: 102,035,307 (GRCm39) D95G possibly damaging Het
Taok2 A T 7: 126,475,110 (GRCm39) probably benign Het
Tcof1 T G 18: 60,949,300 (GRCm39) K1205T possibly damaging Het
Trim43c C T 9: 88,729,530 (GRCm39) R325C probably damaging Het
Trub2 T G 2: 29,667,948 (GRCm39) T231P probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Uty T A Y: 1,152,054 (GRCm39) D724V probably damaging Het
Vmn2r98 A G 17: 19,301,170 (GRCm39) D724G probably damaging Het
Wdfy3 A G 5: 102,023,781 (GRCm39) I2442T possibly damaging Het
Wdfy4 T C 14: 32,795,542 (GRCm39) probably null Het
Zfp280b A G 10: 75,875,444 (GRCm39) H441R probably damaging Het
Zfp60 A T 7: 27,436,400 (GRCm39) Q7L probably damaging Het
Zzef1 T C 11: 72,717,028 (GRCm39) L406S probably damaging Het
Other mutations in Lamc1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0502:Lamc1 UTSW 1 153,122,678 (GRCm39) splice site probably benign
R0755:Lamc1 UTSW 1 153,123,196 (GRCm39) missense possibly damaging 0.94
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
R0791:Lamc1 UTSW 1 153,110,358 (GRCm39) missense probably benign 0.01
R0792: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 1 153,110,358 (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 1 153,097,446 (GRCm39) missense probably benign 0.03
R0961:Lamc1 UTSW 1 153,097,392 (GRCm39) frame shift probably null
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
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'- ACCCAGTTGCTTAGCTTCCAGAATG -3'
(R):5'- CAGTTCACTGATGGAGCAGAAGACG -3'

Sequencing Primer
(F):5'- CTTCCAGAATGAGAAGATCTGATAAG -3'
(R):5'- GAAGAGTTTGTCAAGTGCATCTCTC -3'
Posted On 2014-04-24