Incidental Mutation 'R6431:Lamc1'
ID 518513
Institutional Source Beutler Lab
Gene Symbol Lamc1
Ensembl Gene ENSMUSG00000026478
Gene Name laminin, gamma 1
Synonyms laminin B2, Lamb2
MMRRC Submission 044569-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6431 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 153094668-153208532 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 153097417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 1542 (K1542N)
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
AA Change: K1542N

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027752
Gene: ENSMUSG00000026478
AA Change: K1542N

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
Predicted Effect probably benign
Transcript: ENSMUST00000161744
SMART Domains Protein: ENSMUSP00000124662
Gene: ENSMUSG00000026478

DomainStartEndE-ValueType
coiled coil region 1 73 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 93.9%
Validation Efficiency 100% (68/68)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 A G 16: 35,099,607 (GRCm39) E719G probably damaging Het
Ankdd1a A G 9: 65,424,220 (GRCm39) M31T possibly damaging Het
Atp13a5 T C 16: 29,070,154 (GRCm39) K911E possibly damaging Het
Bpifb3 G T 2: 153,766,728 (GRCm39) L210F probably damaging Het
Cacna1c T C 6: 118,728,334 (GRCm39) Y211C probably damaging Het
Carm1 C A 9: 21,494,373 (GRCm39) P297T probably damaging Het
Cdh19 A T 1: 110,852,787 (GRCm39) Y383N probably benign Het
Cfap221 T C 1: 119,860,583 (GRCm39) H681R probably damaging Het
Cmya5 A C 13: 93,210,972 (GRCm39) S3274A possibly damaging Het
Cndp2 T A 18: 84,693,203 (GRCm39) K186* probably null Het
Ctdp1 G T 18: 80,494,470 (GRCm39) F310L probably damaging Het
Cyp2c55 A T 19: 39,019,853 (GRCm39) I264F probably damaging Het
Dhx40 A T 11: 86,664,649 (GRCm39) F628I probably damaging Het
Disc1 T A 8: 125,862,128 (GRCm39) M500K possibly damaging Het
Dnah5 A C 15: 28,349,970 (GRCm39) D2551A possibly damaging Het
Esyt1 A G 10: 128,352,543 (GRCm39) probably null Het
Fam78a T C 2: 31,972,843 (GRCm39) S26G probably damaging Het
Fn1 G A 1: 71,687,003 (GRCm39) probably null Het
Gbx1 T C 5: 24,709,916 (GRCm39) T310A probably benign Het
Ggh T A 4: 20,042,219 (GRCm39) C16S unknown Het
Gm11595 T A 11: 99,663,600 (GRCm39) T27S unknown Het
Gm17334 T A 11: 53,663,564 (GRCm39) probably benign Het
Gsk3b A G 16: 38,014,311 (GRCm39) I256M probably damaging Het
Hmcn1 A T 1: 150,620,711 (GRCm39) S1166R probably benign Het
Hyou1 T C 9: 44,293,322 (GRCm39) probably null Het
Jup G T 11: 100,265,167 (GRCm39) R637S probably benign Het
Lama2 T A 10: 26,929,027 (GRCm39) I2087F possibly damaging Het
Lgals4 G T 7: 28,540,117 (GRCm39) Het
Lrrc8d A G 5: 105,959,626 (GRCm39) D12G probably damaging Het
Lrwd1 C T 5: 136,161,888 (GRCm39) V207M possibly damaging Het
Mbd1 T A 18: 74,406,762 (GRCm39) probably null Het
Msi1 T A 5: 115,588,984 (GRCm39) I333N probably damaging Het
Neo1 C T 9: 58,814,354 (GRCm39) V871I probably benign Het
Nr2c1 T C 10: 94,024,078 (GRCm39) C428R probably damaging Het
Ntm A G 9: 29,322,978 (GRCm39) L14P probably damaging Het
Nxpe4 A T 9: 48,304,145 (GRCm39) K77N probably damaging Het
Or1p1c A C 11: 74,160,235 (GRCm39) T7P possibly damaging Het
Or4c119 T A 2: 88,987,505 (GRCm39) S5C probably damaging Het
Or4f17-ps1 T A 2: 111,358,001 (GRCm39) M132K probably damaging Het
Or8g30 T C 9: 39,230,074 (GRCm39) T279A possibly damaging Het
Or8k18 G A 2: 86,085,702 (GRCm39) L112F probably benign Het
Pappa T A 4: 65,074,701 (GRCm39) D418E probably damaging Het
Pde4d G A 13: 109,738,320 (GRCm39) probably null Het
Pip A G 6: 41,828,391 (GRCm39) N75S possibly damaging Het
Plcl1 G C 1: 55,736,411 (GRCm39) R584P probably benign Het
Pnp A T 14: 51,188,471 (GRCm39) D237V probably damaging Het
Ppp1r12a T C 10: 108,098,281 (GRCm39) W857R probably damaging Het
Pramel13 T C 4: 144,119,653 (GRCm39) T305A possibly damaging Het
Ptchd3 A T 11: 121,727,229 (GRCm39) M368L probably benign Het
Pum1 T A 4: 130,501,816 (GRCm39) S868R probably damaging Het
R3hdml A T 2: 163,344,324 (GRCm39) S238C probably damaging Het
Robo2 G A 16: 73,843,697 (GRCm39) R173* probably null Het
Sall3 A G 18: 81,016,402 (GRCm39) S509P possibly damaging Het
Sap130 T G 18: 31,799,418 (GRCm39) H298Q possibly damaging Het
Selenov C A 7: 27,987,458 (GRCm39) G307C probably damaging Het
Setd2 T A 9: 110,379,453 (GRCm39) H1089Q possibly damaging Het
Setdb2 T C 14: 59,656,505 (GRCm39) N287D probably damaging Het
Sis C T 3: 72,865,507 (GRCm39) V182I probably benign Het
Slc32a1 A C 2: 158,453,457 (GRCm39) D99A probably benign Het
Slk A G 19: 47,609,327 (GRCm39) D760G probably damaging Het
Smg5 T A 3: 88,258,527 (GRCm39) D499E probably benign Het
Spata31e2 T A 1: 26,723,111 (GRCm39) N690Y probably benign Het
Stat3 T C 11: 100,780,400 (GRCm39) T720A possibly damaging Het
Trdn T G 10: 33,015,110 (GRCm39) N21K probably damaging Het
Trpm4 A T 7: 44,975,992 (GRCm39) V118E possibly damaging Het
Vgll3 A G 16: 65,612,640 (GRCm39) Q41R probably damaging Het
Vmn1r189 A G 13: 22,286,525 (GRCm39) V104A probably damaging Het
Vmn1r46 A T 6: 89,953,389 (GRCm39) R79S probably benign Het
Zscan4c T C 7: 10,740,856 (GRCm39) M125T probably benign 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
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
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'- TTGAAGCAGCCGGTTGGTAG -3'
(R):5'- AGTCACCTTCTTCAGCATAAGC -3'

Sequencing Primer
(F):5'- AGGGTCTTCTTGATGTCCTCCAG -3'
(R):5'- TCCCTGGAAACCTCATAGTGG -3'
Posted On 2018-05-24