Incidental Mutation 'R0078:Lamc1'
ID 44128
Institutional Source Beutler Lab
Gene Symbol Lamc1
Ensembl Gene ENSMUSG00000026478
Gene Name laminin, gamma 1
Synonyms laminin B2, Lamb2
MMRRC Submission 038365-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0078 (G1)
Quality Score 82
Status Not validated
Chromosome 1
Chromosomal Location 153094668-153208532 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 153104936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 1282 (N1282I)
Ref Sequence ENSEMBL: ENSMUSP00000027752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027752]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027752
AA Change: N1282I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027752
Gene: ENSMUSG00000026478
AA Change: N1282I

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 noncoding transcript
Transcript: ENSMUST00000160515
Predicted Effect probably benign
Transcript: ENSMUST00000161744
SMART Domains Protein: ENSMUSP00000124662
Gene: ENSMUSG00000026478

DomainStartEndE-ValueType
coiled coil region 1 73 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163011
SMART Domains Protein: ENSMUSP00000124216
Gene: ENSMUSG00000026478

DomainStartEndE-ValueType
coiled coil region 1 93 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.1%
  • 20x: 89.2%
Validation Efficiency 81% (203/250)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,891,129 (GRCm39) Q456L probably benign Het
Abcf1 A G 17: 36,268,954 (GRCm39) probably benign Het
Adamts7 A T 9: 90,061,464 (GRCm39) S357C probably damaging Het
Ankrd26 A G 6: 118,512,030 (GRCm39) probably benign Het
Asb17 T A 3: 153,550,301 (GRCm39) V111E probably damaging Het
C1qtnf4 C A 2: 90,719,893 (GRCm39) N55K probably damaging Het
Cacng5 G T 11: 107,768,259 (GRCm39) D249E probably benign Het
Camkk2 C A 5: 122,895,622 (GRCm39) probably null Het
Ccdc27 T G 4: 154,120,195 (GRCm39) probably benign Het
Cfap251 G A 5: 123,436,633 (GRCm39) R1054H probably benign Het
Cngb1 T A 8: 95,991,173 (GRCm39) probably null Het
Col7a1 A G 9: 108,803,981 (GRCm39) probably benign Het
Corin T A 5: 72,611,816 (GRCm39) D148V possibly damaging Het
Cstdc1 T A 2: 148,627,745 (GRCm39) *131K probably null Het
Defb26 A C 2: 152,349,988 (GRCm39) D97E possibly damaging Het
Dgkb A G 12: 38,186,540 (GRCm39) N237D probably benign Het
Dsp A G 13: 38,379,993 (GRCm39) N1647S probably benign Het
Dtna G A 18: 23,754,499 (GRCm39) A438T probably damaging Het
Erbb3 G T 10: 128,419,310 (GRCm39) F219L probably damaging Het
EU599041 G A 7: 42,875,275 (GRCm39) noncoding transcript Het
Fat1 A G 8: 45,406,336 (GRCm39) N1029S probably damaging Het
Fat4 T C 3: 38,943,080 (GRCm39) S658P probably benign Het
Fgfr2 C T 7: 129,802,805 (GRCm39) D168N possibly damaging Het
Fstl5 T A 3: 76,566,952 (GRCm39) probably benign Het
Glmn C T 5: 107,705,836 (GRCm39) V451I probably benign Het
Gm9938 T A 19: 23,701,988 (GRCm39) probably benign Het
Gpat2 T C 2: 127,270,169 (GRCm39) S61P probably damaging Het
Gpr22 T A 12: 31,761,640 (GRCm39) M6L probably benign Het
Grm5 T C 7: 87,724,185 (GRCm39) L825P probably damaging Het
Gstz1 A T 12: 87,206,477 (GRCm39) I66F probably benign Het
H2-T22 A G 17: 36,351,501 (GRCm39) V243A probably damaging Het
H2-T5 A T 17: 36,476,353 (GRCm39) S304T possibly damaging Het
Hivep1 C T 13: 42,309,517 (GRCm39) L586F probably damaging Het
Hmcn2 T G 2: 31,278,356 (GRCm39) L1686R probably damaging Het
Ice1 T C 13: 70,751,467 (GRCm39) R1540G probably damaging Het
Igha T A 12: 113,223,547 (GRCm39) probably benign Het
Kif3a C A 11: 53,469,812 (GRCm39) T141K probably benign Het
Knl1 G A 2: 118,900,373 (GRCm39) M691I probably benign Het
L3mbtl1 T C 2: 162,789,146 (GRCm39) V13A probably benign Het
Lemd2 G T 17: 27,422,702 (GRCm39) L231I probably benign Het
Lrrk2 G A 15: 91,618,212 (GRCm39) V904M probably benign Het
Lyzl6 C T 11: 103,524,795 (GRCm39) S103N probably benign Het
Macf1 T A 4: 123,367,661 (GRCm39) R2367W probably damaging Het
Mapk3 T C 7: 126,358,977 (GRCm39) Y54H probably damaging Het
Mlh3 A T 12: 85,315,592 (GRCm39) V198D probably damaging Het
Myocd T C 11: 65,078,290 (GRCm39) S374G possibly damaging Het
Ngef T C 1: 87,468,387 (GRCm39) E124G probably benign Het
Nhsl3 T C 4: 129,121,516 (GRCm39) probably null Het
Nr4a2 T C 2: 57,002,240 (GRCm39) Y8C probably damaging Het
Nynrin T A 14: 56,100,789 (GRCm39) V193D probably damaging Het
Or10ak9 T A 4: 118,726,424 (GRCm39) S148T probably benign Het
Or10w1 G T 19: 13,632,179 (GRCm39) V129F probably benign Het
Or1p1 A T 11: 74,180,092 (GRCm39) I207F probably damaging Het
Or4k36 A T 2: 111,146,249 (GRCm39) I142F probably benign Het
Or6d15 A G 6: 116,559,701 (GRCm39) S69P probably damaging Het
Pcdh18 T C 3: 49,710,793 (GRCm39) Y174C probably damaging Het
Pcf11 T C 7: 92,318,767 (GRCm39) D21G possibly damaging Het
Pdia4 A C 6: 47,775,344 (GRCm39) F489V possibly damaging Het
Pitrm1 C T 13: 6,625,068 (GRCm39) P849S probably damaging Het
Plcz1 T C 6: 139,935,510 (GRCm39) Y644C probably damaging Het
Ppp5c T C 7: 16,761,650 (GRCm39) E28G probably benign Het
Prkcb A G 7: 122,189,393 (GRCm39) Y507C probably damaging Het
Rims2 A G 15: 39,398,251 (GRCm39) D1072G probably benign Het
Scarf1 A G 11: 75,405,988 (GRCm39) probably benign Het
Scoc T A 8: 84,184,887 (GRCm39) probably null Het
Sh2d4a A T 8: 68,734,973 (GRCm39) M31L probably damaging Het
Spta1 T A 1: 174,034,598 (GRCm39) probably benign Het
Stard7 A G 2: 127,134,127 (GRCm39) Y270C probably damaging Het
Svs3b T C 2: 164,097,881 (GRCm39) T147A probably benign Het
Tmtc3 A G 10: 100,284,823 (GRCm39) L604P probably damaging Het
Trim30b A T 7: 104,015,102 (GRCm39) N95K probably benign Het
Trpm8 C A 1: 88,255,870 (GRCm39) probably benign Het
Tspan9 T C 6: 127,943,448 (GRCm39) probably null Het
Tubgcp5 C T 7: 55,468,643 (GRCm39) R713C probably damaging Het
Tyro3 A T 2: 119,647,487 (GRCm39) Q872L probably damaging Het
Vmn1r204 G A 13: 22,740,379 (GRCm39) M3I probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Wdfy3 A G 5: 102,035,971 (GRCm39) I2149T possibly damaging Het
Zfp668 A T 7: 127,467,210 (GRCm39) M122K possibly damaging Het
Zkscan1 A T 5: 138,091,363 (GRCm39) D32V 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
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 1 153,110,358 (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'- CAAACTGACCTGCTGTTCAGCTTTC -3'
(R):5'- GTCTCTTCAGACACCTAATGCCACC -3'

Sequencing Primer
(F):5'- GCTGTTCAGCTTTCCCCTTC -3'
(R):5'- GAGCCAGCTTCTCATGGATAG -3'
Posted On 2013-06-11