Incidental Mutation 'R6313:Lamb1'
ID 510536
Institutional Source Beutler Lab
Gene Symbol Lamb1
Ensembl Gene ENSMUSG00000002900
Gene Name laminin B1
Synonyms Lamb-1, D130003D08Rik, C80098, C81607, Lamb1-1
MMRRC Submission 044470-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6313 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 31315233-31379643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31319146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 102 (T102S)
Ref Sequence ENSEMBL: ENSMUSP00000132778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002979] [ENSMUST00000169088] [ENSMUST00000170495]
AlphaFold P02469
PDB Structure Laminin beta1 LN-LE1-4 structure [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000002979
AA Change: T150S

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000002979
Gene: ENSMUSG00000002900
AA Change: T150S

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 noncoding transcript
Transcript: ENSMUST00000164228
Predicted Effect probably damaging
Transcript: ENSMUST00000169088
AA Change: T102S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132778
Gene: ENSMUSG00000002900
AA Change: T102S

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 probably benign
Transcript: ENSMUST00000170495
SMART Domains Protein: ENSMUSP00000132001
Gene: ENSMUSG00000002900

DomainStartEndE-ValueType
low complexity region 32 45 N/A INTRINSIC
low complexity region 68 82 N/A INTRINSIC
Meta Mutation Damage Score 0.1107 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (70/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,126,344 (GRCm39) F1167L probably damaging Het
Abraxas2 G A 7: 132,476,694 (GRCm39) A145T probably damaging Het
Acaca C T 11: 84,183,755 (GRCm39) T32I probably benign Het
Adam6a A T 12: 113,508,670 (GRCm39) N348Y possibly damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Arhgef38 T C 3: 132,940,469 (GRCm39) D39G possibly damaging Het
Arid5b T C 10: 67,933,412 (GRCm39) D587G possibly damaging Het
Brwd1 A G 16: 95,809,141 (GRCm39) V1963A probably benign Het
Ccdc136 T A 6: 29,410,204 (GRCm39) L34Q probably damaging Het
Cdh2 T C 18: 16,907,579 (GRCm39) Q53R probably benign Het
Celsr2 G A 3: 108,308,530 (GRCm39) S1799L probably damaging Het
Cenpe A G 3: 134,935,936 (GRCm39) E457G probably benign Het
Cmtm1 A T 8: 105,031,795 (GRCm39) M283K possibly damaging Het
Dcdc5 T C 2: 106,198,516 (GRCm39) noncoding transcript Het
Decr1 T A 4: 15,924,261 (GRCm39) M220L probably benign Het
Dgkg T G 16: 22,338,311 (GRCm39) D592A probably damaging Het
Dkkl1 T C 7: 44,860,862 (GRCm39) Q39R probably benign Het
Dyrk1a T A 16: 94,460,373 (GRCm39) C10S possibly damaging Het
Efcab2 A T 1: 178,308,936 (GRCm39) E146D probably benign Het
Efhc1 T C 1: 21,049,652 (GRCm39) V504A possibly damaging Het
Ermard T G 17: 15,273,467 (GRCm39) probably null Het
Espl1 T C 15: 102,224,247 (GRCm39) V1266A probably benign Het
Fbxw22 A C 9: 109,232,465 (GRCm39) V40G probably damaging Het
Gm3629 A T 14: 17,834,409 (GRCm39) I194N possibly damaging Het
Gnai2 C T 9: 107,497,296 (GRCm39) V33M possibly damaging Het
H2-DMb1 T C 17: 34,376,506 (GRCm39) probably null Het
Hc T C 2: 34,879,851 (GRCm39) probably null Het
Iars1 T C 13: 49,861,921 (GRCm39) S491P probably damaging Het
Knl1 T A 2: 118,899,799 (GRCm39) L500H probably damaging Het
Lrrc7 A G 3: 157,866,373 (GRCm39) S1123P probably damaging Het
Mettl5 C A 2: 69,702,071 (GRCm39) probably null Het
Mmp11 A G 10: 75,759,818 (GRCm39) *4R probably null Het
Myom1 A T 17: 71,389,483 (GRCm39) D911V probably benign Het
Nid1 A G 13: 13,638,367 (GRCm39) T96A probably benign Het
Nlrp4e G T 7: 23,052,597 (GRCm39) V839L probably benign Het
Notch3 A T 17: 32,370,128 (GRCm39) probably null Het
Or8k35 T C 2: 86,424,411 (GRCm39) T254A possibly damaging Het
Pcdh8 T C 14: 80,005,091 (GRCm39) H978R probably benign Het
Pde8b A T 13: 95,178,508 (GRCm39) C537* probably null Het
Polr1b T C 2: 128,967,366 (GRCm39) F920L probably damaging Het
Polr2f A G 15: 79,035,573 (GRCm39) T87A probably damaging Het
Pon2 T A 6: 5,272,421 (GRCm39) H133L probably damaging Het
Pou2af2 C T 9: 51,201,481 (GRCm39) D192N probably damaging Het
Ptk2b T A 14: 66,416,280 (GRCm39) E205V probably damaging Het
Rb1cc1 T A 1: 6,314,357 (GRCm39) M343K probably benign Het
Rlf G A 4: 121,005,807 (GRCm39) R1058W probably damaging Het
S100z T A 13: 95,615,082 (GRCm39) K28* probably null Het
Scarf1 T A 11: 75,411,141 (GRCm39) N273K probably benign Het
Setd2 A G 9: 110,385,434 (GRCm39) I136M unknown Het
Sfrp2 A G 3: 83,674,291 (GRCm39) D148G probably benign Het
Slc24a4 A G 12: 102,220,769 (GRCm39) E400G probably benign Het
Slc2a9 T G 5: 38,610,464 (GRCm39) I112L probably benign Het
Smc5 A T 19: 23,186,312 (GRCm39) Y972* probably null Het
Sntg1 T C 1: 8,515,248 (GRCm39) probably null Het
Spata31h1 T C 10: 82,129,470 (GRCm39) N1180S probably benign Het
Stag1 A G 9: 100,639,786 (GRCm39) D114G probably damaging Het
Suclg1 T C 6: 73,233,192 (GRCm39) S46P probably damaging Het
Synj1 C T 16: 90,743,703 (GRCm39) A1186T probably benign Het
Tas2r124 A G 6: 132,732,410 (GRCm39) T240A probably benign Het
Tax1bp1 T C 6: 52,721,341 (GRCm39) probably null Het
Tchh C A 3: 93,355,158 (GRCm39) Q1533K unknown Het
Tmprss15 T C 16: 78,759,058 (GRCm39) T887A probably benign Het
Ttn T C 2: 76,536,937 (GRCm39) I34963V probably benign Het
Unc79 G A 12: 103,078,878 (GRCm39) G1485D probably damaging Het
Usp9y G T Y: 1,385,355 (GRCm39) H633N probably benign Homo
Vmn2r99 A T 17: 19,602,867 (GRCm39) N541Y probably damaging Het
Zbtb11 T A 16: 55,810,854 (GRCm39) N337K probably benign Het
Zfp260 T A 7: 29,804,267 (GRCm39) C56S possibly damaging Het
Zfp457 C T 13: 67,440,746 (GRCm39) E610K 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
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
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'- ACATTCATCTTTCTTGAAGGTGGTC -3'
(R):5'- AAGGCTGCTTCCTAACAGGG -3'

Sequencing Primer
(F):5'- ATCTTTCTTGAAGGTGGTCGTCTG -3'
(R):5'- TAACTGAGCAAGATGAGTGTTCC -3'
Posted On 2018-04-02