Incidental Mutation 'R9187:Lamc1'
ID 697413
Institutional Source Beutler Lab
Gene Symbol Lamc1
Ensembl Gene ENSMUSG00000026478
Gene Name laminin, gamma 1
Synonyms laminin B2, Lamb2
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9187 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 153094668-153208532 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 153097434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 1537 (E1537*)
Ref Sequence ENSEMBL: ENSMUSP00000027752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027752]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000027752
AA Change: E1537*
SMART Domains Protein: ENSMUSP00000027752
Gene: ENSMUSG00000026478
AA Change: E1537*

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 97% (70/72)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,200,961 (GRCm39) probably null Het
Abcb1a T A 5: 8,765,016 (GRCm39) C669S probably benign Het
Abcc3 A G 11: 94,255,913 (GRCm39) L524P probably damaging Het
Akap5 A T 12: 76,376,745 (GRCm39) K726* probably null Het
Aldh16a1 T C 7: 44,791,441 (GRCm39) E778G probably damaging Het
Ankle2 G A 5: 110,400,610 (GRCm39) V649M possibly damaging Het
Apon A G 10: 128,090,832 (GRCm39) N170S probably benign Het
Baiap2l1 T C 5: 144,217,764 (GRCm39) Y274C probably benign Het
Bub1 A T 2: 127,656,856 (GRCm39) N425K possibly damaging Het
Camsap1 A G 2: 25,820,028 (GRCm39) C1487R probably damaging Het
Cd4 A C 6: 124,844,651 (GRCm39) V378G probably damaging Het
Cenpa C A 5: 30,824,380 (GRCm39) P3Q unknown Het
Cfap44 T C 16: 44,225,144 (GRCm39) probably benign Het
Cfap65 T A 1: 74,956,517 (GRCm39) M1021L probably benign Het
Ddx39a G T 8: 84,449,113 (GRCm39) M300I probably benign Het
Dgkh T C 14: 78,832,601 (GRCm39) R819G probably damaging Het
Dlc1 A T 8: 37,405,786 (GRCm39) M1K probably null Het
Dnah9 A G 11: 65,895,972 (GRCm39) W2468R probably benign Het
Ebag9 A T 15: 44,503,706 (GRCm39) K177I probably damaging Het
Ehbp1 T C 11: 22,101,184 (GRCm39) I249V probably damaging Het
Fam171b T C 2: 83,710,365 (GRCm39) V679A probably damaging Het
Gabbr2 G A 4: 46,674,533 (GRCm39) T818I probably damaging Het
Gcn1 T C 5: 115,752,177 (GRCm39) S2098P probably damaging Het
Glb1 T C 9: 114,302,991 (GRCm39) I609T probably damaging Het
Gm5916 T G 9: 36,032,020 (GRCm39) H88P probably benign Het
Gon4l T C 3: 88,786,618 (GRCm39) S586P probably benign Het
Gzmg T A 14: 56,394,714 (GRCm39) T185S probably benign Het
Hipk3 T A 2: 104,276,936 (GRCm39) D381V probably damaging Het
Hnrnpul2 C A 19: 8,808,319 (GRCm39) N681K probably benign Het
Hpdl C A 4: 116,678,372 (GRCm39) G30C probably damaging Het
Iws1 G A 18: 32,213,213 (GRCm39) E214K possibly damaging Het
Krt82 C A 15: 101,450,260 (GRCm39) V479L probably benign Het
Lama4 G A 10: 38,924,124 (GRCm39) probably null Het
Mab21l3 G A 3: 101,730,594 (GRCm39) T215M probably benign Het
Magi3 C A 3: 103,923,073 (GRCm39) V1215F possibly damaging Het
Mical2 T A 7: 111,902,797 (GRCm39) C89* probably null Het
Mitf T A 6: 97,994,835 (GRCm39) V427D probably benign Het
Muc4 T C 16: 32,589,102 (GRCm39) V753A Het
Myo16 G A 8: 10,492,233 (GRCm39) R725H unknown Het
Ncapg2 T A 12: 116,402,287 (GRCm39) D706E probably damaging Het
Ndst1 T C 18: 60,824,268 (GRCm39) D803G probably benign Het
Neb A T 2: 52,096,115 (GRCm39) V5065D probably damaging Het
Npm3 G A 19: 45,737,941 (GRCm39) R19* probably null Het
Ntrk3 A C 7: 77,896,966 (GRCm39) N690K possibly damaging Het
Or7g32 T C 9: 19,389,166 (GRCm39) I127V probably benign Het
Or7g35 T C 9: 19,495,950 (GRCm39) I39T probably benign Het
Or8d4 C A 9: 40,038,886 (GRCm39) V124L possibly damaging Het
P3h2 G A 16: 25,924,186 (GRCm39) A83V probably benign Het
Pdia2 A G 17: 26,415,910 (GRCm39) S362P probably damaging Het
Pmp22 C T 11: 63,025,268 (GRCm39) H34Y probably benign Het
Pmp22 T C 11: 63,025,317 (GRCm39) V50A probably benign Het
Ppfia4 T C 1: 134,255,006 (GRCm39) D283G probably damaging Het
Pramel58 T C 5: 94,831,755 (GRCm39) V254A probably benign Het
Prss55 T A 14: 64,314,531 (GRCm39) Q213L probably null Het
Rgsl1 C T 1: 153,669,613 (GRCm39) E258K possibly damaging Het
Ripor2 T C 13: 24,897,632 (GRCm39) F777L probably benign Het
Rsf1 GGC GGCGGCGGCCGC 7: 97,229,140 (GRCm39) probably benign Het
Sgce G A 6: 4,711,362 (GRCm39) R173C probably benign Het
Sncaip T G 18: 53,040,011 (GRCm39) M735R probably benign Het
Snrpd2 T A 7: 18,886,505 (GRCm39) I96N probably damaging Het
Spryd3 T G 15: 102,039,110 (GRCm39) D121A probably damaging Het
Srsf3-ps A G 11: 98,516,187 (GRCm39) V62A possibly damaging Het
Sspo T C 6: 48,472,223 (GRCm39) C149R probably damaging Het
Tbc1d10b A T 7: 126,807,105 (GRCm39) M144K probably benign Het
Tbc1d31 T A 15: 57,779,485 (GRCm39) I66N probably damaging Het
Tssk1 A G 16: 17,712,457 (GRCm39) T81A possibly damaging Het
Ttc28 A G 5: 111,249,902 (GRCm39) Y284C probably damaging Het
Ttn T C 2: 76,573,755 (GRCm39) T25713A probably benign Het
Vmn2r125 T C 4: 156,703,554 (GRCm39) W311R probably damaging Het
Vmn2r80 A T 10: 79,030,438 (GRCm39) T755S probably benign Het
Vmn2r98 T C 17: 19,301,481 (GRCm39) C828R probably damaging Het
Wwox T C 8: 115,438,978 (GRCm39) F348S probably damaging Het
Zeb2 T A 2: 45,000,040 (GRCm39) R65W possibly damaging Het
Zfp712 T A 13: 67,188,637 (GRCm39) H630L probably damaging Het
Zfp764 G T 7: 127,004,608 (GRCm39) H174Q 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
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
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'- GGTCTTCTTGATGTCCTCCAGG -3'
(R):5'- CGAGGTCTAAGACATGGTGC -3'

Sequencing Primer
(F):5'- GATGTCCTCCAGGTTGTGAATATCC -3'
(R):5'- TCCCTGGAAACCTCATAGTGG -3'
Posted On 2022-02-07