Incidental Mutation 'R4828:Lamb1'
ID 372606
Institutional Source Beutler Lab
Gene Symbol Lamb1
Ensembl Gene ENSMUSG00000002900
Gene Name laminin B1
Synonyms Lamb-1, D130003D08Rik, C80098, C81607, Lamb1-1
MMRRC Submission 042444-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4828 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 31315233-31379643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31348929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 606 (Y606H)
Ref Sequence ENSEMBL: ENSMUSP00000132778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002979] [ENSMUST00000169088]
AlphaFold P02469
PDB Structure Laminin beta1 LN-LE1-4 structure [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000002979
AA Change: Y654H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002979
Gene: ENSMUSG00000002900
AA Change: Y654H

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: ENSMUST00000169088
AA Change: Y606H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132778
Gene: ENSMUSG00000002900
AA Change: Y606H

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
Meta Mutation Damage Score 0.0636 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (106/108)
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,815,470 (GRCm39) R239S probably damaging Het
Adat3 T C 10: 80,442,881 (GRCm39) S240P probably benign Het
Agbl5 G A 5: 31,048,059 (GRCm39) R111H probably damaging Het
Alg2 A G 4: 47,471,563 (GRCm39) V415A probably benign Het
Alpk2 T C 18: 65,482,184 (GRCm39) E141G probably benign Het
Ampd1 A C 3: 102,988,413 (GRCm39) T115P probably damaging Het
Ankrd12 A G 17: 66,291,632 (GRCm39) L1267P probably damaging Het
Arfgef3 A T 10: 18,528,441 (GRCm39) S315R probably damaging Het
Atp10d A C 5: 72,396,461 (GRCm39) D222A probably benign Het
B9d1 A G 11: 61,398,461 (GRCm39) E47G probably damaging Het
Bag2 T C 1: 33,785,968 (GRCm39) D118G probably damaging Het
Bnip3l G T 14: 67,246,208 (GRCm39) P9Q probably damaging Het
Casp8ap2 A G 4: 32,639,807 (GRCm39) N287S probably benign Het
Ccdc190 A G 1: 169,761,465 (GRCm39) D189G probably damaging Het
Ccdc88a A G 11: 29,413,210 (GRCm39) K583E probably damaging Het
Cd84 A T 1: 171,700,315 (GRCm39) N144I probably damaging Het
Chrnd A G 1: 87,119,293 (GRCm39) probably benign Het
Clca3b G T 3: 144,550,273 (GRCm39) T224K probably benign Het
Crcp A G 5: 130,088,603 (GRCm39) T119A probably damaging Het
Cul2 T C 18: 3,431,013 (GRCm39) Y596H probably damaging Het
Dip2c T A 13: 9,610,715 (GRCm39) W356R probably damaging Het
Dlc1 T A 8: 37,317,400 (GRCm39) Q425L possibly damaging Het
Dnah7b T A 1: 46,167,272 (GRCm39) V588D possibly damaging Het
Dock4 G T 12: 40,718,436 (GRCm39) G245W probably damaging Het
Dpf3 A G 12: 83,341,273 (GRCm39) I160T possibly damaging Het
Dstyk A G 1: 132,361,875 (GRCm39) T102A probably benign Het
Eif3d A T 15: 77,844,229 (GRCm39) L425* probably null Het
Elac2 A G 11: 64,886,153 (GRCm39) E477G probably damaging Het
Ephb3 G A 16: 21,033,745 (GRCm39) R23H possibly damaging Het
Exd1 C T 2: 119,350,807 (GRCm39) A485T probably benign Het
Ext2 G A 2: 93,626,112 (GRCm39) T316I probably benign Het
Fbf1 A G 11: 116,039,777 (GRCm39) V694A probably benign Het
Fgg G A 3: 82,915,677 (GRCm39) probably benign Het
Flnb G A 14: 7,919,238 (GRCm38) V1664I probably benign Het
Flnc G A 6: 29,455,166 (GRCm39) D1932N probably damaging Het
Gm1818 A T 12: 48,602,409 (GRCm39) noncoding transcript Het
Gnai1 G A 5: 18,496,470 (GRCm39) S151L probably damaging Het
Golph3l G A 3: 95,499,059 (GRCm39) R67H possibly damaging Het
Grk5 T A 19: 60,976,213 (GRCm39) C42* probably null Het
Herc1 G A 9: 66,404,625 (GRCm39) probably null Het
Hey2 A T 10: 30,710,179 (GRCm39) H191Q possibly damaging Het
Il11 A G 7: 4,779,481 (GRCm39) V8A probably benign Het
Il23r G A 6: 67,408,635 (GRCm39) P402L probably benign Het
Irf5 A G 6: 29,531,140 (GRCm39) N2S probably damaging Het
Larp4b C T 13: 9,220,934 (GRCm39) R650C probably damaging Het
Lrpap1 T C 5: 35,259,765 (GRCm39) E111G possibly damaging Het
Lrrc36 T A 8: 106,181,862 (GRCm39) S388T probably benign Het
Med27 T C 2: 29,267,950 (GRCm39) probably benign Het
Mrc1 T G 2: 14,275,017 (GRCm39) D439E probably damaging Het
Notch4 A T 17: 34,789,034 (GRCm39) E444D probably damaging Het
Nrm G A 17: 36,175,082 (GRCm39) V137I possibly damaging Het
Nxpe5 T A 5: 138,228,795 (GRCm39) L4Q possibly damaging Het
Obscn A G 11: 58,977,496 (GRCm39) V2052A possibly damaging Het
Oc90 A T 15: 65,753,408 (GRCm39) Y304N probably damaging Het
Or13f5 T C 4: 52,826,138 (GRCm39) V247A probably damaging Het
Or52d3 T A 7: 104,229,180 (GRCm39) F109Y possibly damaging Het
Or5p1 T C 7: 107,916,677 (GRCm39) V192A probably benign Het
Or8b101 T C 9: 38,020,036 (GRCm39) I13T probably damaging Het
Or8k1 T A 2: 86,047,877 (GRCm39) H59L possibly damaging Het
Parp10 A T 15: 76,127,281 (GRCm39) I52N probably benign Het
Pdgfrb C A 18: 61,206,315 (GRCm39) R608S probably damaging Het
Pecam1 A G 11: 106,590,634 (GRCm39) C47R probably damaging Het
Pirb C T 7: 3,720,602 (GRCm39) G299S probably benign Het
Pkhd1l1 A G 15: 44,392,801 (GRCm39) E1712G possibly damaging Het
Plce1 T C 19: 38,757,943 (GRCm39) I1958T probably damaging Het
Plch2 C T 4: 155,069,092 (GRCm39) R1073Q probably benign Het
Pld5 A C 1: 176,102,433 (GRCm39) I3S probably benign Het
Polr1a T C 6: 71,943,385 (GRCm39) W1207R possibly damaging Het
Polr2m T G 9: 71,391,050 (GRCm39) I51L possibly damaging Het
Ppl G A 16: 4,922,790 (GRCm39) R234C probably damaging Het
Ppp1r42 C T 1: 10,069,636 (GRCm39) R142H probably benign Het
Prokr1 A G 6: 87,558,224 (GRCm39) V387A probably benign Het
Prss23 A T 7: 89,159,108 (GRCm39) Y320* probably null Het
Ptprk A T 10: 28,436,050 (GRCm39) M804L probably damaging Het
Rdh16f2 A G 10: 127,710,823 (GRCm39) S147G probably benign Het
Rgs7bp T C 13: 105,189,532 (GRCm39) H89R possibly damaging Het
Rilpl2 G T 5: 124,607,875 (GRCm39) T115K possibly damaging Het
Rnf212 G A 5: 108,877,334 (GRCm39) S153F probably damaging Het
Rnf213 A G 11: 119,307,455 (GRCm39) D705G possibly damaging Het
Selenbp2 A G 3: 94,611,426 (GRCm39) N379S probably benign Het
Sema3e G A 5: 14,276,654 (GRCm39) V312M probably damaging Het
Sh2d5 T A 4: 137,985,566 (GRCm39) L338Q probably damaging Het
Shank3 A G 15: 89,384,402 (GRCm39) probably benign Het
Skor2 G T 18: 76,948,113 (GRCm39) G612C probably damaging Het
Slc22a16 A G 10: 40,449,636 (GRCm39) Y24C probably damaging Het
Slc4a1ap T A 5: 31,688,053 (GRCm39) Y312* probably null Het
Slc5a7 A T 17: 54,583,827 (GRCm39) F488I probably benign Het
Snrnp200 A G 2: 127,053,527 (GRCm39) D130G probably damaging Het
Sorbs2 T A 8: 46,194,652 (GRCm39) probably benign Het
Tmem91 T G 7: 25,368,803 (GRCm39) T161P probably damaging Het
Tpd52l1 G A 10: 31,222,697 (GRCm39) T99M probably damaging Het
Trps1 A G 15: 50,524,073 (GRCm39) *1036Q probably null Het
Tshr A T 12: 91,504,564 (GRCm39) T501S probably damaging Het
Tubgcp3 T C 8: 12,721,987 (GRCm39) N15S probably benign Het
Unc5b A G 10: 60,608,127 (GRCm39) S669P possibly damaging Het
Zfp970 A G 2: 177,167,146 (GRCm39) E240G 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
R0285:Lamb1 UTSW 12 31,376,644 (GRCm39) nonsense probably null
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
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'- TCAGGGAGTTTGCAGCTAGG -3'
(R):5'- TTAGGGGCCTAACAGGAGAC -3'

Sequencing Primer
(F):5'- CTAGGAGACAGAAATGGTTTTGAATC -3'
(R):5'- CACCATGATGCATATTGATGG -3'
Posted On 2016-03-01