Incidental Mutation 'R4909:Lamb1'
ID 379319
Institutional Source Beutler Lab
Gene Symbol Lamb1
Ensembl Gene ENSMUSG00000002900
Gene Name laminin B1
Synonyms Lamb-1, D130003D08Rik, C80098, C81607, Lamb1-1
MMRRC Submission 042511-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4909 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 31315233-31379643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 31338280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 483 (R483H)
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 damaging
Transcript: ENSMUST00000002979
AA Change: R531H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002979
Gene: ENSMUSG00000002900
AA Change: R531H

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 damaging
Transcript: ENSMUST00000164919
AA Change: R531H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132616
Gene: ENSMUSG00000002900
AA Change: R531H

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 noncoding transcript
Transcript: ENSMUST00000169065
Predicted Effect probably damaging
Transcript: ENSMUST00000169088
AA Change: R483H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132778
Gene: ENSMUSG00000002900
AA Change: R483H

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 0.1537 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.7%
Validation Efficiency 97% (101/104)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030C10Rik A T 12: 20,865,089 (GRCm39) noncoding transcript Het
Aars1 G A 8: 111,781,715 (GRCm39) G929D probably damaging Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Actn4 A T 7: 28,598,082 (GRCm39) L506Q probably damaging Het
Adam26a A T 8: 44,023,475 (GRCm39) F5Y probably benign Het
Adamts5 G A 16: 85,696,954 (GRCm39) Q68* probably null Het
Adcy9 A G 16: 4,116,618 (GRCm39) I871T probably benign Het
Ak5 A T 3: 152,361,514 (GRCm39) L136H probably damaging Het
Ap1g2 A G 14: 55,342,483 (GRCm39) probably null Het
Ap2a1 G A 7: 44,555,805 (GRCm39) T355M probably damaging Het
Ap3s2 T C 7: 79,564,989 (GRCm39) D60G possibly damaging Het
Apold1 G A 6: 134,960,558 (GRCm39) R4Q probably benign Het
Atp13a5 G T 16: 29,152,846 (GRCm39) Q207K possibly damaging Het
BC035947 A C 1: 78,474,666 (GRCm39) I622S probably damaging Het
Bmper G T 9: 23,289,021 (GRCm39) V339F probably benign Het
Btbd8 C T 5: 107,655,176 (GRCm39) Q992* probably null Het
C1ra A G 6: 124,499,293 (GRCm39) D493G probably damaging Het
C3 C T 17: 57,533,830 (GRCm39) probably null Het
Cabp4 T A 19: 4,187,120 (GRCm39) I209F possibly damaging Het
Cacna1s A T 1: 136,007,342 (GRCm39) H453L probably damaging Het
Camk2g A G 14: 20,842,652 (GRCm39) V32A probably benign Het
Ccdc175 G A 12: 72,206,527 (GRCm39) R240C probably damaging Het
Cdk13 C T 13: 17,946,988 (GRCm39) S590N possibly damaging Het
Cfap45 A T 1: 172,357,443 (GRCm39) T24S probably benign Het
Clca3a1 T G 3: 144,730,324 (GRCm39) K174Q probably damaging Het
Col1a2 G A 6: 4,529,058 (GRCm39) probably benign Het
Colgalt1 A T 8: 72,073,277 (GRCm39) I323F possibly damaging Het
Cpeb3 A T 19: 37,152,059 (GRCm39) S106T probably damaging Het
Cpeb3 T C 19: 37,151,633 (GRCm39) S248G possibly damaging Het
Ctcfl C T 2: 172,937,191 (GRCm39) A576T probably benign Het
Cyp4f16 T G 17: 32,769,295 (GRCm39) V395G possibly damaging Het
Dchs1 C T 7: 105,415,462 (GRCm39) G605S probably damaging Het
Egflam A T 15: 7,249,110 (GRCm39) F903I probably damaging Het
Eif5a G A 11: 69,808,311 (GRCm39) A62V possibly damaging Het
Fam217a A G 13: 35,094,389 (GRCm39) S609P probably damaging Het
Fhad1 T A 4: 141,712,822 (GRCm39) I206F probably benign Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Fras1 T A 5: 96,856,617 (GRCm39) M2000K probably benign Het
Frmd5 C T 2: 121,422,134 (GRCm39) probably null Het
Gle1 T C 2: 29,826,092 (GRCm39) L57P probably benign Het
Glrx3 C A 7: 137,046,765 (GRCm39) N52K probably damaging Het
Grin3b A G 10: 79,812,938 (GRCm39) *1004W probably null Het
Hectd4 T A 5: 121,401,954 (GRCm39) F347L probably benign Het
Htra1 G A 7: 130,586,802 (GRCm39) V462I probably benign Het
Itga11 A G 9: 62,662,581 (GRCm39) Y518C probably damaging Het
Krtap15-1 T C 16: 88,626,253 (GRCm39) F88L probably benign Het
Ktn1 A T 14: 47,943,917 (GRCm39) R866W probably damaging Het
Megf6 C T 4: 154,349,848 (GRCm39) R983C probably damaging Het
Mybpc3 T A 2: 90,965,157 (GRCm39) D1075E probably benign Het
Myo7b A T 18: 32,097,489 (GRCm39) N1792K probably benign Het
Nabp2 A T 10: 128,237,556 (GRCm39) probably benign Het
Neil3 A G 8: 54,091,928 (GRCm39) C7R probably damaging Het
Nxpe2 T A 9: 48,230,897 (GRCm39) I491F possibly damaging Het
Obscn A G 11: 58,952,291 (GRCm39) V4292A possibly damaging Het
Ogfod3 A G 11: 121,088,318 (GRCm39) S139P probably damaging Het
Oog2 T C 4: 143,921,669 (GRCm39) I211T possibly damaging Het
Oosp1 T C 19: 11,666,080 (GRCm39) D70G probably benign Het
Or10j2 A T 1: 173,098,546 (GRCm39) D268V probably damaging Het
Or1ab2 A G 8: 72,863,425 (GRCm39) N5S probably damaging Het
Or56a42-ps1 C A 7: 104,777,435 (GRCm39) V70L probably benign Het
Or6c210 A G 10: 129,496,589 (GRCm39) I305V probably benign Het
Padi3 T C 4: 140,522,937 (GRCm39) D345G probably damaging Het
Pcyt2 A G 11: 120,506,246 (GRCm39) F71L probably benign Het
Pi4k2b T C 5: 52,911,971 (GRCm39) probably benign Het
Pigr A C 1: 130,776,195 (GRCm39) T577P possibly damaging Het
Pirb G A 7: 3,722,361 (GRCm39) Q161* probably null Het
Pnlip A G 19: 58,664,672 (GRCm39) E204G possibly damaging Het
Pop7 G T 5: 137,500,161 (GRCm39) D57E probably benign Het
Ppfia4 A T 1: 134,260,239 (GRCm39) I8N probably damaging Het
Pprc1 A G 19: 46,052,758 (GRCm39) T759A probably damaging Het
Prom1 T C 5: 44,202,894 (GRCm39) N213S probably benign Het
Prop1 GCTTCACT GCTTCACTTCACT 11: 50,842,863 (GRCm39) probably null Het
Prop1 A T 11: 50,842,872 (GRCm39) L105H probably damaging Het
Pwp2 A T 10: 78,018,328 (GRCm39) M121K possibly damaging Het
Rap1gds1 A T 3: 138,689,509 (GRCm39) M161K possibly damaging Het
Rps6kb2 T A 19: 4,207,002 (GRCm39) probably benign Het
Rxfp1 A G 3: 79,552,109 (GRCm39) S731P probably benign Het
Scfd1 T C 12: 51,437,195 (GRCm39) V137A probably benign Het
Slc6a15 G A 10: 103,240,275 (GRCm39) D333N probably damaging Het
Sqor T C 2: 122,627,101 (GRCm39) V74A possibly damaging Het
Stil T A 4: 114,881,422 (GRCm39) Y655* probably null Het
Syt14 A T 1: 192,581,167 (GRCm39) I468K probably damaging Het
Tbc1d31 T C 15: 57,825,661 (GRCm39) probably null Het
Tspyl5 A T 15: 33,686,995 (GRCm39) S317T probably damaging Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Ttf2 T C 3: 100,861,631 (GRCm39) T620A probably damaging Het
Usp32 G A 11: 84,946,598 (GRCm39) Q269* probably null Het
Vsig10 T A 5: 117,476,308 (GRCm39) V254E probably benign Het
Wdr6 C T 9: 108,450,187 (GRCm39) A1114T probably benign Het
Zfp280d A G 9: 72,238,714 (GRCm39) S63G probably damaging Het
Zfp607b A G 7: 27,403,221 (GRCm39) D559G probably benign Het
Zfp934 T C 13: 62,665,768 (GRCm39) H291R 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
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
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'- GCTGCAATTCTAAGGCTAAACC -3'
(R):5'- GTTCACTTGTCTTCATAAGCAGC -3'

Sequencing Primer
(F):5'- GGCTAAACCTCAGCTTTGGAC -3'
(R):5'- AAGACATTCCTCATCTGCCAGGTATG -3'
Posted On 2016-04-15