Incidental Mutation 'R0285:Lamb1'
ID 24691
Institutional Source Beutler Lab
Gene Symbol Lamb1
Ensembl Gene ENSMUSG00000002900
Gene Name laminin B1
Synonyms Lamb-1, D130003D08Rik, C80098, C81607, Lamb1-1
MMRRC Submission 038506-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0285 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 31315233-31379643 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 31376644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 559 (C559*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002979] [ENSMUST00000110857] [ENSMUST00000169088]
AlphaFold P02469
Predicted Effect probably benign
Transcript: ENSMUST00000002979
AA Change: A1656E

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000002979
Gene: ENSMUSG00000002900
AA Change: A1656E

DomainStartEndE-ValueType
low complexity region 32 45 N/A INTRINSIC
LamNT 77 317 3.24e-96 SMART
EGF_Lam 319 380 1.34e-6 SMART
EGF_Lam 383 443 1.33e-10 SMART
EGF_Lam 446 503 2.89e-11 SMART
EGF_Lam 506 555 2.89e-11 SMART
EGF_Lam 558 602 3.4e-8 SMART
EGF_Lam 821 866 4.99e-15 SMART
EGF_Lam 869 912 2.38e-12 SMART
EGF_Lam 915 962 2.4e-8 SMART
EGF_Lam 965 1021 1.41e-5 SMART
EGF_Lam 1024 1073 4.81e-8 SMART
EGF_Lam 1076 1129 3.81e-11 SMART
EGF_Lam 1132 1177 5.61e-9 SMART
EGF_Lam 1180 1224 2.89e-11 SMART
coiled coil region 1329 1360 N/A INTRINSIC
low complexity region 1468 1480 N/A INTRINSIC
coiled coil region 1497 1551 N/A INTRINSIC
coiled coil region 1600 1826 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110857
SMART Domains Protein: ENSMUSP00000106481
Gene: ENSMUSG00000020664

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 42 370 2.3e-71 PFAM
Pfam:FAD_binding_2 43 83 2.5e-7 PFAM
Pfam:GIDA 43 111 1.7e-8 PFAM
Pfam:FAD_oxidored 43 135 4.3e-10 PFAM
Pfam:NAD_binding_8 46 100 1.4e-6 PFAM
Pfam:Pyr_redox 215 298 4.9e-17 PFAM
Pfam:Pyr_redox_dim 389 498 1.6e-43 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000164919
AA Change: C559*
SMART Domains Protein: ENSMUSP00000132616
Gene: ENSMUSG00000002900
AA Change: C559*

DomainStartEndE-ValueType
low complexity region 32 45 N/A INTRINSIC
LamNT 77 317 3.24e-96 SMART
EGF_Lam 319 380 1.34e-6 SMART
EGF_Lam 383 443 1.33e-10 SMART
EGF_Lam 446 503 2.89e-11 SMART
EGF_Lam 506 555 2.89e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169088
AA Change: A1608E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132778
Gene: ENSMUSG00000002900
AA Change: A1608E

DomainStartEndE-ValueType
LamNT 29 269 3.24e-96 SMART
EGF_Lam 271 332 1.34e-6 SMART
EGF_Lam 335 395 1.33e-10 SMART
EGF_Lam 398 455 2.89e-11 SMART
EGF_Lam 458 507 2.89e-11 SMART
EGF_Lam 510 554 3.4e-8 SMART
EGF_Lam 773 818 4.99e-15 SMART
EGF_Lam 821 864 2.38e-12 SMART
EGF_Lam 867 914 2.4e-8 SMART
EGF_Lam 917 973 1.41e-5 SMART
EGF_Lam 976 1025 4.81e-8 SMART
EGF_Lam 1028 1081 3.81e-11 SMART
EGF_Lam 1084 1129 5.61e-9 SMART
EGF_Lam 1132 1176 2.89e-11 SMART
coiled coil region 1281 1312 N/A INTRINSIC
low complexity region 1420 1432 N/A INTRINSIC
coiled coil region 1449 1503 N/A INTRINSIC
coiled coil region 1552 1778 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172134
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.1%
  • 20x: 92.9%
Validation Efficiency 99% (80/81)
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 are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form 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 beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. [provided by RefSeq, Aug 2011]
PHENOTYPE: Embryos homozygous for a gene trapped allele lack basement membranes and fail to survive past E5.5. Mice heterozygous for a spontaneous mutation exhibit dystonis with impaired neuron firing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy3 A G 19: 4,038,193 (GRCm39) E162G probably benign Het
Angptl1 T C 1: 156,672,785 (GRCm39) S204P probably benign Het
Atf6b C T 17: 34,869,370 (GRCm39) probably benign Het
Card11 G A 5: 140,872,856 (GRCm39) S619F probably damaging Het
Ccdc192 G A 18: 57,666,937 (GRCm39) G5S probably damaging Het
Ccl11 G A 11: 81,953,084 (GRCm39) V81I probably damaging Het
Cds1 T C 5: 101,944,904 (GRCm39) I126T probably damaging Het
Chd1 A G 17: 17,594,942 (GRCm39) probably benign Het
Cndp1 C A 18: 84,636,363 (GRCm39) V384F possibly damaging Het
Cuta A G 17: 27,158,423 (GRCm39) probably null Het
Diaph3 G A 14: 87,352,460 (GRCm39) T47I possibly damaging Het
Dop1a A T 9: 86,394,692 (GRCm39) S598C probably damaging Het
Dsp A G 13: 38,356,770 (GRCm39) M217V probably benign Het
Entrep1 G A 19: 23,956,749 (GRCm39) probably benign Het
Esyt1 T A 10: 128,348,087 (GRCm39) I898F possibly damaging Het
Fcsk G C 8: 111,620,349 (GRCm39) H235Q probably benign Het
Fgd3 A T 13: 49,417,424 (GRCm39) W680R possibly damaging Het
Folh1 A G 7: 86,391,373 (GRCm39) probably benign Het
Gadl1 C A 9: 115,859,806 (GRCm39) probably benign Het
Garem1 A G 18: 21,262,669 (GRCm39) M715T probably benign Het
Gpd2 A T 2: 57,228,967 (GRCm39) D257V probably benign Het
Hdac7 A G 15: 97,696,103 (GRCm39) probably null Het
Heatr5b A G 17: 79,115,882 (GRCm39) M858T probably benign Het
Inpp4b A T 8: 82,761,145 (GRCm39) probably benign Het
Iqgap3 G T 3: 88,004,297 (GRCm39) C461F probably benign Het
Lratd2 T C 15: 60,694,816 (GRCm39) H310R probably benign Het
Lrrc31 T C 3: 30,739,097 (GRCm39) N308S probably benign Het
Ly75 T C 2: 60,148,663 (GRCm39) Y1222C probably damaging Het
Map3k10 C A 7: 27,373,325 (GRCm39) R42L probably benign Het
Meioc A G 11: 102,563,017 (GRCm39) T72A probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mmp11 T C 10: 75,761,502 (GRCm39) Y366C probably damaging Het
N4bp2 T A 5: 65,963,902 (GRCm39) D650E probably benign Het
Ncoa6 T C 2: 155,257,621 (GRCm39) M641V probably damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nol4l G A 2: 153,325,773 (GRCm39) probably benign Het
Notch1 T G 2: 26,350,873 (GRCm39) D2089A possibly damaging Het
Or10q3 A G 19: 11,848,502 (GRCm39) L26P probably damaging Het
Or13c7 G A 4: 43,854,398 (GRCm39) V30M possibly damaging Het
Or52h2 A T 7: 103,838,531 (GRCm39) Y294* probably null Het
Or5b24 A T 19: 12,912,536 (GRCm39) M145L probably benign Het
Or5l13 A G 2: 87,780,475 (GRCm39) I34T probably damaging Het
Or5p68 A G 7: 107,945,706 (GRCm39) S161P probably benign Het
Or8d23 T A 9: 38,842,070 (GRCm39) I201N possibly damaging Het
Otof C T 5: 30,536,877 (GRCm39) probably null Het
Paox T C 7: 139,709,053 (GRCm39) F324L probably damaging Het
Pycr1 A T 11: 120,531,142 (GRCm39) I277N probably benign Het
R3hcc1l A T 19: 42,564,568 (GRCm39) H627L probably damaging Het
Rab21 G A 10: 115,126,768 (GRCm39) S193L probably benign Het
Ralgds T G 2: 28,440,581 (GRCm39) probably null Het
Rbm42 A G 7: 30,345,265 (GRCm39) S169P possibly damaging Het
Rfpl4 A G 7: 5,113,377 (GRCm39) V262A probably benign Het
Rhobtb3 A G 13: 76,025,628 (GRCm39) I496T possibly damaging Het
Rnf31 G A 14: 55,838,846 (GRCm39) A901T probably damaging Het
Ryr2 T C 13: 11,731,863 (GRCm39) D2359G probably damaging Het
Sgo2b A C 8: 64,381,823 (GRCm39) Y336* probably null Het
Slc16a7 T A 10: 125,130,500 (GRCm39) I62L probably benign Het
Slc22a21 A T 11: 53,850,022 (GRCm39) probably benign Het
Slc25a21 A G 12: 56,904,810 (GRCm39) probably null Het
Slc5a4b T C 10: 75,898,117 (GRCm39) I532M probably damaging Het
Spata31f1a G A 4: 42,850,236 (GRCm39) T640M probably benign Het
Srrm4 C A 5: 116,605,848 (GRCm39) probably benign Het
Stxbp1 C A 2: 32,713,554 (GRCm39) E27D probably benign Het
Sult2a5 T A 7: 13,362,685 (GRCm39) Y131N probably damaging Het
Svopl T C 6: 37,961,457 (GRCm39) Q492R probably benign Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Tmem87a A G 2: 120,224,905 (GRCm39) S119P probably benign Het
Tmprss11c A G 5: 86,419,289 (GRCm39) L90P probably damaging Het
Tmprss6 T A 15: 78,337,068 (GRCm39) D346V probably damaging Het
Ubr4 A C 4: 139,168,112 (GRCm39) S2820R probably damaging Het
Usp4 T C 9: 108,255,763 (GRCm39) V607A probably benign Het
Usp45 A G 4: 21,798,603 (GRCm39) probably null Het
Vill C T 9: 118,899,895 (GRCm39) probably benign Het
Vmn1r13 C A 6: 57,186,979 (GRCm39) T46N probably benign Het
Vmn2r107 A G 17: 20,565,873 (GRCm39) T63A probably benign Het
Vmn2r82 T A 10: 79,232,391 (GRCm39) W797R probably damaging Het
Washc2 T A 6: 116,198,800 (GRCm39) D287E probably damaging Het
Xpc G A 6: 91,475,046 (GRCm39) L660F probably damaging Het
Other mutations in Lamb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00932:Lamb1 APN 12 31,348,825 (GRCm39) missense possibly damaging 0.74
IGL00939:Lamb1 APN 12 31,352,926 (GRCm39) missense probably damaging 1.00
IGL01017:Lamb1 APN 12 31,351,063 (GRCm39) missense possibly damaging 0.89
IGL01384:Lamb1 APN 12 31,370,930 (GRCm39) missense probably benign 0.09
IGL01470:Lamb1 APN 12 31,350,261 (GRCm39) missense possibly damaging 0.55
IGL01554:Lamb1 APN 12 31,356,976 (GRCm39) missense probably damaging 1.00
IGL02207:Lamb1 APN 12 31,379,434 (GRCm39) missense probably damaging 1.00
IGL02271:Lamb1 APN 12 31,350,250 (GRCm39) missense probably damaging 1.00
IGL02272:Lamb1 APN 12 31,355,768 (GRCm39) missense probably benign 0.00
IGL02365:Lamb1 APN 12 31,368,344 (GRCm39) missense probably damaging 1.00
IGL02471:Lamb1 APN 12 31,370,907 (GRCm39) missense probably damaging 1.00
IGL02704:Lamb1 APN 12 31,368,466 (GRCm39) missense probably benign 0.05
IGL03132:Lamb1 APN 12 31,350,333 (GRCm39) splice site probably null
IGL03161:Lamb1 APN 12 31,376,255 (GRCm39) missense probably benign 0.41
IGL03169:Lamb1 APN 12 31,373,645 (GRCm39) missense probably damaging 1.00
Crush UTSW 12 31,337,423 (GRCm39) missense probably damaging 1.00
Deflationary UTSW 12 31,371,074 (GRCm39) missense probably null 0.63
E0374:Lamb1 UTSW 12 31,337,929 (GRCm39) missense probably damaging 1.00
P0043:Lamb1 UTSW 12 31,328,620 (GRCm39) missense probably damaging 1.00
R0031:Lamb1 UTSW 12 31,351,155 (GRCm39) missense probably benign 0.04
R0047:Lamb1 UTSW 12 31,328,600 (GRCm39) missense possibly damaging 0.51
R0047:Lamb1 UTSW 12 31,328,600 (GRCm39) missense possibly damaging 0.51
R0456:Lamb1 UTSW 12 31,354,729 (GRCm39) missense probably damaging 1.00
R0477:Lamb1 UTSW 12 31,376,268 (GRCm39) missense possibly damaging 0.47
R0480:Lamb1 UTSW 12 31,332,720 (GRCm39) missense possibly damaging 0.79
R0544:Lamb1 UTSW 12 31,332,694 (GRCm39) missense probably damaging 1.00
R0565:Lamb1 UTSW 12 31,348,914 (GRCm39) missense probably benign 0.02
R1500:Lamb1 UTSW 12 31,348,948 (GRCm39) missense possibly damaging 0.82
R1624:Lamb1 UTSW 12 31,328,651 (GRCm39) critical splice donor site probably null
R1772:Lamb1 UTSW 12 31,328,524 (GRCm39) missense probably damaging 1.00
R1836:Lamb1 UTSW 12 31,351,093 (GRCm39) missense probably benign 0.00
R1853:Lamb1 UTSW 12 31,368,271 (GRCm39) missense probably damaging 1.00
R1854:Lamb1 UTSW 12 31,368,271 (GRCm39) missense probably damaging 1.00
R1903:Lamb1 UTSW 12 31,379,209 (GRCm39) missense probably damaging 1.00
R2091:Lamb1 UTSW 12 31,337,428 (GRCm39) missense probably damaging 0.98
R2186:Lamb1 UTSW 12 31,368,466 (GRCm39) nonsense probably null
R2268:Lamb1 UTSW 12 31,377,644 (GRCm39) missense probably damaging 1.00
R2567:Lamb1 UTSW 12 31,319,054 (GRCm39) critical splice acceptor site probably null
R2698:Lamb1 UTSW 12 31,348,882 (GRCm39) missense probably benign 0.10
R3121:Lamb1 UTSW 12 31,337,528 (GRCm39) missense probably damaging 1.00
R3405:Lamb1 UTSW 12 31,337,528 (GRCm39) missense probably damaging 1.00
R3406:Lamb1 UTSW 12 31,337,528 (GRCm39) missense probably damaging 1.00
R3608:Lamb1 UTSW 12 31,337,909 (GRCm39) missense probably damaging 1.00
R3725:Lamb1 UTSW 12 31,371,074 (GRCm39) missense probably null 0.63
R3726:Lamb1 UTSW 12 31,371,074 (GRCm39) missense probably null 0.63
R3949:Lamb1 UTSW 12 31,332,648 (GRCm39) missense probably damaging 1.00
R4308:Lamb1 UTSW 12 31,379,254 (GRCm39) missense probably damaging 1.00
R4600:Lamb1 UTSW 12 31,373,528 (GRCm39) missense probably benign 0.00
R4604:Lamb1 UTSW 12 31,328,775 (GRCm39) missense probably damaging 1.00
R4701:Lamb1 UTSW 12 31,316,847 (GRCm39) nonsense probably null
R4710:Lamb1 UTSW 12 31,332,582 (GRCm39) missense probably benign 0.02
R4767:Lamb1 UTSW 12 31,358,010 (GRCm39) missense probably damaging 1.00
R4809:Lamb1 UTSW 12 31,328,525 (GRCm39) missense probably damaging 1.00
R4828:Lamb1 UTSW 12 31,348,929 (GRCm39) missense probably benign
R4842:Lamb1 UTSW 12 31,337,432 (GRCm39) missense probably damaging 1.00
R4864:Lamb1 UTSW 12 31,371,005 (GRCm39) missense probably benign 0.01
R4909:Lamb1 UTSW 12 31,338,280 (GRCm39) missense probably damaging 1.00
R4989:Lamb1 UTSW 12 31,376,677 (GRCm39) missense probably damaging 1.00
R5444:Lamb1 UTSW 12 31,348,908 (GRCm39) missense possibly damaging 0.47
R5736:Lamb1 UTSW 12 31,352,664 (GRCm39) nonsense probably null
R5766:Lamb1 UTSW 12 31,349,930 (GRCm39) missense probably damaging 1.00
R5825:Lamb1 UTSW 12 31,368,613 (GRCm39) missense probably benign
R5840:Lamb1 UTSW 12 31,316,755 (GRCm39) missense probably damaging 1.00
R5867:Lamb1 UTSW 12 31,348,954 (GRCm39) missense possibly damaging 0.82
R5887:Lamb1 UTSW 12 31,316,863 (GRCm39) nonsense probably null
R5984:Lamb1 UTSW 12 31,377,773 (GRCm39) missense possibly damaging 0.76
R6313:Lamb1 UTSW 12 31,319,146 (GRCm39) missense probably damaging 1.00
R6359:Lamb1 UTSW 12 31,332,715 (GRCm39) missense probably damaging 0.97
R6505:Lamb1 UTSW 12 31,373,461 (GRCm39) missense possibly damaging 0.63
R7127:Lamb1 UTSW 12 31,374,314 (GRCm39) missense probably damaging 1.00
R7202:Lamb1 UTSW 12 31,374,314 (GRCm39) missense probably damaging 1.00
R7271:Lamb1 UTSW 12 31,337,423 (GRCm39) missense probably damaging 1.00
R7290:Lamb1 UTSW 12 31,315,595 (GRCm39) missense probably benign 0.04
R7486:Lamb1 UTSW 12 31,337,441 (GRCm39) missense probably benign 0.00
R7496:Lamb1 UTSW 12 31,350,020 (GRCm39) missense probably benign 0.31
R7591:Lamb1 UTSW 12 31,376,647 (GRCm39) missense probably damaging 1.00
R7722:Lamb1 UTSW 12 31,373,570 (GRCm39) missense probably damaging 0.99
R7985:Lamb1 UTSW 12 31,350,214 (GRCm39) missense possibly damaging 0.93
R8058:Lamb1 UTSW 12 31,353,046 (GRCm39) missense probably benign 0.16
R8353:Lamb1 UTSW 12 31,356,998 (GRCm39) missense probably damaging 1.00
R8506:Lamb1 UTSW 12 31,379,360 (GRCm39) missense probably damaging 1.00
R8846:Lamb1 UTSW 12 31,379,388 (GRCm39) missense possibly damaging 0.75
R8888:Lamb1 UTSW 12 31,352,953 (GRCm39) missense possibly damaging 0.95
R8895:Lamb1 UTSW 12 31,352,953 (GRCm39) missense possibly damaging 0.95
R9312:Lamb1 UTSW 12 31,368,352 (GRCm39) missense probably damaging 1.00
R9340:Lamb1 UTSW 12 31,374,224 (GRCm39) missense probably benign
R9340:Lamb1 UTSW 12 31,374,223 (GRCm39) missense probably benign
R9371:Lamb1 UTSW 12 31,348,863 (GRCm39) missense probably damaging 0.98
R9417:Lamb1 UTSW 12 31,337,983 (GRCm39) missense probably damaging 1.00
R9562:Lamb1 UTSW 12 31,322,492 (GRCm39) missense probably damaging 1.00
R9626:Lamb1 UTSW 12 31,354,669 (GRCm39) missense probably benign
R9641:Lamb1 UTSW 12 31,337,457 (GRCm39) missense probably damaging 0.97
X0054:Lamb1 UTSW 12 31,337,433 (GRCm39) missense probably damaging 1.00
X0064:Lamb1 UTSW 12 31,353,041 (GRCm39) missense probably benign 0.35
Z1176:Lamb1 UTSW 12 31,377,701 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- GAGCGAGTTGAAACCCTCTCTCAAG -3'
(R):5'- ACCTGTGCCAAGAGAAACAGTTCTG -3'

Sequencing Primer
(F):5'- TCTGCTGTAACGAGCACACTG -3'
(R):5'- AGTGCCTTACCGATGTTAGC -3'
Posted On 2013-04-16