Incidental Mutation 'R7202:Lamb1'
ID 560395
Institutional Source Beutler Lab
Gene Symbol Lamb1
Ensembl Gene ENSMUSG00000002900
Gene Name laminin B1
Synonyms Lamb-1, D130003D08Rik, C80098, C81607, Lamb1-1
MMRRC Submission 045280-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7202 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 31315233-31379643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31374314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1559 (L1559P)
Ref Sequence ENSEMBL: ENSMUSP00000002979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002979] [ENSMUST00000169088]
AlphaFold P02469
Predicted Effect probably damaging
Transcript: ENSMUST00000002979
AA Change: L1559P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002979
Gene: ENSMUSG00000002900
AA Change: L1559P

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 possibly damaging
Transcript: ENSMUST00000169088
AA Change: L1511P

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132778
Gene: ENSMUSG00000002900
AA Change: L1511P

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 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (74/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,917,236 (GRCm39) I1467T probably damaging Het
Abtb3 A G 10: 85,223,629 (GRCm39) E146G unknown Het
Adgrf3 T A 5: 30,409,378 (GRCm39) K38* probably null Het
Ahdc1 T A 4: 132,789,198 (GRCm39) C146* probably null Het
Ahnak A T 19: 8,995,163 (GRCm39) K5482N probably damaging Het
Arhgap23 C T 11: 97,342,819 (GRCm39) A367V possibly damaging Het
Arvcf T C 16: 18,223,948 (GRCm39) S960P probably damaging Het
Asb14 C A 14: 26,622,394 (GRCm39) P74Q probably benign Het
Atad5 T C 11: 79,980,601 (GRCm39) V2A probably damaging Het
Baz2a A G 10: 127,954,428 (GRCm39) I691M possibly damaging Het
Brca2 A G 5: 150,455,819 (GRCm39) T187A probably benign Het
Calr4 T A 4: 109,101,254 (GRCm39) N152K possibly damaging Het
Ccnb2 C T 9: 70,318,128 (GRCm39) A215T probably damaging Het
Cdh16 C T 8: 105,340,780 (GRCm39) D140N unknown Het
Ces1g T C 8: 94,029,595 (GRCm39) T546A probably benign Het
Cfap74 G T 4: 155,510,654 (GRCm39) probably null Het
Cfap91 T C 16: 38,155,959 (GRCm39) Y88C probably benign Het
Col5a1 G T 2: 27,842,390 (GRCm39) D422Y unknown Het
Cyp2c66 A T 19: 39,130,348 (GRCm39) Y61F probably damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah6 A G 6: 73,158,688 (GRCm39) probably null Het
Dop1a T G 9: 86,386,220 (GRCm39) probably null Het
Fam163a A G 1: 155,954,834 (GRCm39) F106L probably damaging Het
Gfy T C 7: 44,827,596 (GRCm39) T167A probably benign Het
Gm6525 A T 3: 84,082,341 (GRCm39) R87S probably benign Het
Gramd1c C A 16: 43,879,584 (GRCm39) A19S possibly damaging Het
Herc2 T C 7: 55,781,034 (GRCm39) V1233A probably damaging Het
Hibch G A 1: 52,892,874 (GRCm39) probably null Het
Ibsp A T 5: 104,450,027 (GRCm39) S9C probably benign Het
Il17ra A G 6: 120,452,572 (GRCm39) I252V probably benign Het
Ino80 A T 2: 119,204,918 (GRCm39) M1536K probably benign Het
Ipo11 A T 13: 107,012,078 (GRCm39) L568Q probably damaging Het
Kcnu1 T G 8: 26,409,609 (GRCm39) probably null Het
Kdm5b T G 1: 134,552,497 (GRCm39) S1158A probably benign Het
Kmt2a T C 9: 44,759,012 (GRCm39) T946A probably benign Het
Kmt2e A T 5: 23,697,292 (GRCm39) probably benign Het
Krba1 G A 6: 48,389,261 (GRCm39) V594M probably damaging Het
Lig1 C T 7: 13,025,175 (GRCm39) P227S probably benign Het
Lims2 T A 18: 32,090,017 (GRCm39) D255E probably benign Het
Marchf3 C T 18: 56,909,161 (GRCm39) C208Y probably benign Het
Mei1 A G 15: 81,976,843 (GRCm39) E142G Het
Melk G T 4: 44,351,106 (GRCm39) R549L probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myorg T C 4: 41,498,268 (GRCm39) Y454C probably damaging Het
Nae1 T C 8: 105,250,215 (GRCm39) Y226C possibly damaging Het
Nap1l1 T C 10: 111,326,964 (GRCm39) F175S probably damaging Het
Ndn T C 7: 61,998,709 (GRCm39) L185P probably damaging Het
Ndst3 T A 3: 123,465,388 (GRCm39) I195F possibly damaging Het
Ndufaf1 A T 2: 119,488,907 (GRCm39) S206T probably benign Het
Nek10 C A 14: 14,836,171 (GRCm38) H131N probably benign Het
Obsl1 T A 1: 75,466,360 (GRCm39) D1456V possibly damaging Het
Or10a2 A G 7: 106,673,448 (GRCm39) N138D probably benign Het
Or10ak7 C T 4: 118,791,215 (GRCm39) V277I probably benign Het
Or52s6 T A 7: 103,092,292 (GRCm39) T13S probably benign Het
Otog C T 7: 45,937,474 (GRCm39) L1728F probably damaging Het
Pcx A T 19: 4,652,361 (GRCm39) M150L possibly damaging Het
Pole A G 5: 110,444,973 (GRCm39) D443G possibly damaging Het
Prr14 G T 7: 127,075,648 (GRCm39) R552L probably damaging Het
Rasgrf1 T G 9: 89,899,125 (GRCm39) S1156A possibly damaging Het
Rfc4 T A 16: 22,946,359 (GRCm39) probably benign Het
Rfx5 G T 3: 94,866,272 (GRCm39) A524S unknown Het
Ryr3 G A 2: 112,596,664 (GRCm39) P2497S probably damaging Het
Scg3 T C 9: 75,590,992 (GRCm39) T6A probably benign Het
Slc26a9 A T 1: 131,690,526 (GRCm39) D510V possibly damaging Het
Stpg3 A G 2: 25,104,586 (GRCm39) F10L probably damaging Het
Tmc5 T A 7: 118,239,179 (GRCm39) H357Q possibly damaging Het
Tmem40 A T 6: 115,707,420 (GRCm39) L253H probably damaging Het
Tmie A G 9: 110,696,632 (GRCm39) V83A probably damaging Het
Uck2 A T 1: 167,054,084 (GRCm39) I218N probably damaging Het
Vtn A G 11: 78,391,626 (GRCm39) D310G possibly damaging Het
Wdr49 A T 3: 75,240,580 (GRCm39) S430T probably benign Het
Wtip A G 7: 33,832,087 (GRCm39) V133A probably benign Het
Zbtb9 T A 17: 27,193,666 (GRCm39) V357E probably damaging Het
Zfp953 G A 13: 67,491,706 (GRCm39) T82M probably benign 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
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
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'- TAAGTTTGTTGCCATCAGCTTG -3'
(R):5'- AGGCACGCACTTACACGTTC -3'

Sequencing Primer
(F):5'- TGACCCTGCTTTAGAGAGAGC -3'
(R):5'- GCACTTACACGTTCAGCTTGAAATG -3'
Posted On 2019-06-26