Incidental Mutation 'R4864:Lamb1'
ID 374769
Institutional Source Beutler Lab
Gene Symbol Lamb1
Ensembl Gene ENSMUSG00000002900
Gene Name laminin B1
Synonyms Lamb-1, D130003D08Rik, C80098, C81607, Lamb1-1
MMRRC Submission 042474-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4864 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 31315233-31379643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 31371005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 1400 (T1400M)
Ref Sequence ENSEMBL: ENSMUSP00000002979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002979] [ENSMUST00000169088]
AlphaFold P02469
Predicted Effect probably benign
Transcript: ENSMUST00000002979
AA Change: T1400M

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000002979
Gene: ENSMUSG00000002900
AA Change: T1400M

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: T1352M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000132778
Gene: ENSMUSG00000002900
AA Change: T1352M

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 99% (93/94)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C T 14: 64,210,658 (GRCm39) R190H probably benign Het
Acp6 T C 3: 97,066,683 (GRCm39) probably null Het
Adora3 T A 3: 105,815,131 (GRCm39) Y148N probably damaging Het
Ahnak2 G A 12: 112,740,040 (GRCm39) S538L probably damaging Het
Aox3 T G 1: 58,215,646 (GRCm39) V1026G probably damaging Het
Ap3d1 TTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCTCT 10: 80,548,612 (GRCm39) probably null Het
Arhgef37 G A 18: 61,627,996 (GRCm39) A649V probably benign Het
Atp5f1a G A 18: 77,869,015 (GRCm39) R413H possibly damaging Het
Bace1 A T 9: 45,766,109 (GRCm39) I179F probably damaging Het
Brinp1 A G 4: 68,717,123 (GRCm39) F242L probably damaging Het
Brk1 T C 6: 113,592,805 (GRCm39) Y63H possibly damaging Het
Ccdc74a A G 16: 17,466,736 (GRCm39) T148A probably benign Het
Cenpc1 T A 5: 86,193,180 (GRCm39) L236F probably damaging Het
Col13a1 C T 10: 61,698,439 (GRCm39) E541K unknown Het
Copg1 T A 6: 87,866,678 (GRCm39) C44S probably damaging Het
D130043K22Rik A G 13: 25,047,595 (GRCm39) E380G probably damaging Het
Dchs1 T C 7: 105,404,460 (GRCm39) D2694G probably damaging Het
Dgkd A T 1: 87,844,560 (GRCm39) N242I possibly damaging Het
Dnah2 C T 11: 69,313,416 (GRCm39) V4248I probably damaging Het
Dpy19l3 T A 7: 35,411,607 (GRCm39) K376* probably null Het
Eef1d A G 15: 75,775,255 (GRCm39) S135P possibly damaging Het
Epc2 T A 2: 49,427,177 (GRCm39) S574T probably benign Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
Eps8 T C 6: 137,455,967 (GRCm39) probably benign Het
Exoc5 A T 14: 49,289,839 (GRCm39) V13E probably benign Het
Fbn1 A T 2: 125,214,317 (GRCm39) C765S possibly damaging Het
Fbxo5 A T 10: 5,752,392 (GRCm39) C74S probably benign Het
Fbxw9 T C 8: 85,792,530 (GRCm39) S322P probably damaging Het
Fmo5 T A 3: 97,553,195 (GRCm39) I381N probably damaging Het
Fmo6 T C 1: 162,751,964 (GRCm39) D175G probably benign Het
Gm7361 A G 5: 26,467,008 (GRCm39) probably null Het
Gm9961 G A 16: 11,720,899 (GRCm39) probably benign Het
Golga7b T A 19: 42,255,405 (GRCm39) probably null Het
Gorab T C 1: 163,213,967 (GRCm39) E321G probably benign Het
Gpx1 T A 9: 108,216,594 (GRCm39) V28E probably benign Het
H2-T15 T A 17: 36,369,253 (GRCm39) probably benign Het
H3c14 T C 3: 96,154,575 (GRCm39) I125T probably damaging Het
Hk1 T C 10: 62,178,318 (GRCm39) S8G probably benign Het
Iqsec1 C T 6: 90,641,038 (GRCm39) R1026H probably damaging Het
Kdm4b A T 17: 56,660,091 (GRCm39) Y86F probably benign Het
Kprp C T 3: 92,731,829 (GRCm39) R407Q unknown Het
Lcor G T 19: 41,573,803 (GRCm39) A853S probably benign Het
Lrriq3 T A 3: 154,893,447 (GRCm39) Y383N possibly damaging Het
Map3k21 T C 8: 126,654,294 (GRCm39) I371T probably benign Het
Mllt1 A T 17: 57,212,819 (GRCm39) F105I probably damaging Het
Nfatc2 A G 2: 168,378,312 (GRCm39) M451T probably damaging Het
Nfkbiz A C 16: 55,638,787 (GRCm39) N224K probably damaging Het
Nlrp4d A G 7: 10,115,088 (GRCm39) V531A noncoding transcript Het
Noc3l A G 19: 38,778,081 (GRCm39) Y778H probably benign Het
Nup98 C A 7: 101,802,403 (GRCm39) A734S possibly damaging Het
Or2ag18 T C 7: 106,405,171 (GRCm39) Y166C probably damaging Het
Or4k2 T A 14: 50,424,039 (GRCm39) I212F probably damaging Het
Or9g20 A G 2: 85,630,033 (GRCm39) Y194H probably damaging Het
Or9r7 T A 10: 129,962,756 (GRCm39) R57* probably null Het
Pate4 A T 9: 35,519,535 (GRCm39) C52S probably damaging Het
Pecr C A 1: 72,316,490 (GRCm39) A72S probably benign Het
Pomt1 A G 2: 32,142,004 (GRCm39) N578S probably benign Het
Ppm1a T C 12: 72,830,738 (GRCm39) S88P probably benign Het
Ppm1l T A 3: 69,449,844 (GRCm39) probably benign Het
Prdm13 A G 4: 21,685,543 (GRCm39) S86P unknown Het
Prph2 T C 17: 47,221,848 (GRCm39) S76P probably benign Het
Sarnp G A 10: 128,669,212 (GRCm39) R23H probably damaging Het
Septin1 T C 7: 126,816,064 (GRCm39) probably benign Het
Serpini1 T C 3: 75,520,481 (GRCm39) I26T probably benign Het
Setdb2 A G 14: 59,646,715 (GRCm39) I616T probably benign Het
Slc2a10 T C 2: 165,356,541 (GRCm39) F67S probably benign Het
Slc38a6 T A 12: 73,390,424 (GRCm39) probably null Het
Smg6 T C 11: 74,820,988 (GRCm39) S420P possibly damaging Het
Srp72 T A 5: 77,132,009 (GRCm39) H229Q probably benign Het
Ston2 A G 12: 91,615,448 (GRCm39) V320A possibly damaging Het
Stx3 A T 19: 11,754,515 (GRCm39) I269N possibly damaging Het
Tdg-ps A G 15: 82,400,843 (GRCm39) noncoding transcript Het
Tecpr1 T A 5: 144,150,935 (GRCm39) N291I probably benign Het
Tmem177 A G 1: 119,838,553 (GRCm39) V42A probably benign Het
Trim26 T A 17: 37,168,886 (GRCm39) probably benign Het
Ttc17 A G 2: 94,196,980 (GRCm39) S456P probably benign Het
Tubgcp6 T C 15: 88,988,021 (GRCm39) Y984C probably benign Het
Unc5cl A G 17: 48,766,872 (GRCm39) E82G possibly damaging Het
Uncx T C 5: 139,529,875 (GRCm39) S43P probably damaging Het
Vmn1r1 A G 1: 181,985,332 (GRCm39) V111A probably benign Het
Vmn1r168 A G 7: 23,240,907 (GRCm39) I255V probably damaging Het
Vwce A G 19: 10,628,000 (GRCm39) T487A probably benign Het
Xaf1 A G 11: 72,197,682 (GRCm39) probably benign Het
Zfp27 G T 7: 29,594,261 (GRCm39) P568Q probably damaging Het
Zfp382 A T 7: 29,832,885 (GRCm39) I179F possibly 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
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'- AAAATGGGCACTGTTTGGGG -3'
(R):5'- GAGTCACCCCTACAGGATTACG -3'

Sequencing Primer
(F):5'- CACTGTTTGGGGAGGACC -3'
(R):5'- GTCACCCCTACAGGATTACGAACAG -3'
Posted On 2016-03-17