Incidental Mutation 'R8888:Lamb1'
ID 677506
Institutional Source Beutler Lab
Gene Symbol Lamb1
Ensembl Gene ENSMUSG00000002900
Gene Name laminin B1
Synonyms Lamb-1, D130003D08Rik, C80098, C81607, Lamb1-1
MMRRC Submission 068692-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8888 (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 G at 31352953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 885 (T885A)
Ref Sequence ENSEMBL: ENSMUSP00000002979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002979] [ENSMUST00000169088]
AlphaFold P02469
Predicted Effect possibly damaging
Transcript: ENSMUST00000002979
AA Change: T885A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000002979
Gene: ENSMUSG00000002900
AA Change: T885A

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: ENSMUST00000169088
AA Change: T837A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132778
Gene: ENSMUSG00000002900
AA Change: T837A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (78/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1a1 A G 4: 116,498,260 (GRCm39) L95P probably damaging Het
Amigo2 G T 15: 97,143,389 (GRCm39) N344K probably damaging Het
Ankrd11 T C 8: 123,621,014 (GRCm39) D946G possibly damaging Het
Ankrd12 T C 17: 66,338,568 (GRCm39) probably null Het
Atp8b5 A G 4: 43,304,687 (GRCm39) N66S Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Birc6 G A 17: 74,835,533 (GRCm39) S24N probably null Het
Bzw2 A T 12: 36,173,982 (GRCm39) C97* probably null Het
Capn12 T A 7: 28,585,949 (GRCm39) probably benign Het
Cdh1 T A 8: 107,330,971 (GRCm39) F34Y probably damaging Het
Cdh5 T C 8: 104,852,092 (GRCm39) I69T possibly damaging Het
Celsr2 G A 3: 108,320,880 (GRCm39) T644I possibly damaging Het
Cep85l A T 10: 53,224,911 (GRCm39) L226Q possibly damaging Het
Clasp2 T A 9: 113,732,936 (GRCm39) M924K possibly damaging Het
Col3a1 G A 1: 45,379,139 (GRCm39) A850T unknown Het
Cped1 C T 6: 22,016,962 (GRCm39) P104S possibly damaging Het
Cracd GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG GCGCGAGGCCGAGAGGCAGG 5: 77,004,801 (GRCm39) probably benign Het
Cyp2c69 T C 19: 39,869,910 (GRCm39) D104G possibly damaging Het
Daw1 T A 1: 83,187,011 (GRCm39) C274S probably damaging Het
Dmtn T C 14: 70,850,144 (GRCm39) T267A probably benign Het
Dock5 A G 14: 68,055,112 (GRCm39) Y585H possibly damaging Het
Dop1a A G 9: 86,403,587 (GRCm39) I132V probably benign Het
Dpysl5 C T 5: 30,902,687 (GRCm39) R40C probably benign Het
Dsg2 T G 18: 20,723,126 (GRCm39) V384G probably damaging Het
Elmo1 C T 13: 20,748,630 (GRCm39) L492F probably damaging Het
Epg5 C A 18: 78,056,086 (GRCm39) D1753E possibly damaging Het
Ext1 T C 15: 52,955,723 (GRCm39) Y458C probably damaging Het
Folr2 C T 7: 101,489,408 (GRCm39) V244M unknown Het
Frmd6 C A 12: 70,940,646 (GRCm39) H430Q possibly damaging Het
Galnt18 T C 7: 111,378,709 (GRCm39) I16V possibly damaging Het
Gm10036 C A 18: 15,966,207 (GRCm39) Y119* probably null Het
Gria4 A G 9: 4,664,951 (GRCm39) S102P probably damaging Het
Hc A T 2: 34,890,861 (GRCm39) N1318K probably benign Het
Htr2a C T 14: 74,882,617 (GRCm39) T201I possibly damaging Het
Ifitm1 T C 7: 140,549,499 (GRCm39) L94P probably damaging Het
Iqca1l T C 5: 24,755,628 (GRCm39) D298G probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kank4 C T 4: 98,653,747 (GRCm39) V894I possibly damaging Het
Kcnip2 T A 19: 45,785,100 (GRCm39) probably benign Het
Klhl29 A T 12: 5,187,542 (GRCm39) L274H possibly damaging Het
Ldc1 T C 4: 130,105,223 (GRCm39) K316E probably benign Het
Lipi A T 16: 75,352,710 (GRCm39) L376I probably benign Het
Lrrc37 T A 11: 103,509,656 (GRCm39) T771S unknown Het
Malrd1 A T 2: 15,850,038 (GRCm39) N1219I unknown Het
Mrc1 A C 2: 14,312,760 (GRCm39) N894T probably damaging Het
Mrpl35 C T 6: 71,793,271 (GRCm39) A127T possibly damaging Het
Naip2 T C 13: 100,325,644 (GRCm39) H88R probably benign Het
Nek5 C T 8: 22,580,495 (GRCm39) probably null Het
Nlrc5 G A 8: 95,252,118 (GRCm39) V1880I probably benign Het
Noc3l T A 19: 38,798,751 (GRCm39) K282N probably damaging Het
Nwd2 T C 5: 63,963,241 (GRCm39) Y942H probably damaging Het
Or10ag2 T C 2: 87,248,659 (GRCm39) V87A probably benign Het
Or4f62 G A 2: 111,986,974 (GRCm39) R226H probably benign Het
Or52d1 T A 7: 103,756,302 (GRCm39) I272N probably damaging Het
Osbpl9 C A 4: 108,930,333 (GRCm39) A221S probably benign Het
Paip1 T C 13: 119,566,801 (GRCm39) L45S probably benign Het
Pccb A T 9: 100,905,305 (GRCm39) probably benign Het
Pgap3 A G 11: 98,281,602 (GRCm39) F199L possibly damaging Het
Pik3c2g A T 6: 139,676,092 (GRCm39) K79* probably null Het
Pou3f1 C G 4: 124,552,152 (GRCm39) A218G possibly damaging Het
Ptk2b T A 14: 66,412,242 (GRCm39) N383I probably benign Het
Rad52 C T 6: 119,890,041 (GRCm39) R56C probably damaging Het
Rdh7 A T 10: 127,724,430 (GRCm39) F18Y probably benign Het
Scart2 C T 7: 139,841,532 (GRCm39) P279S possibly damaging Het
Septin5 A G 16: 18,441,861 (GRCm39) M315T possibly damaging Het
Slc27a6 A G 18: 58,715,306 (GRCm39) Y303C probably damaging Het
Slc7a7 T A 14: 54,607,293 (GRCm39) M495L probably benign Het
Sntg1 T A 1: 8,748,074 (GRCm39) probably null Het
Spdye4a T G 5: 143,211,418 (GRCm39) S49R probably benign Het
Spred2 T A 11: 19,951,019 (GRCm39) I72N probably benign Het
Stox1 A T 10: 62,495,386 (GRCm39) H962Q probably benign Het
Susd2 G T 10: 75,475,452 (GRCm39) A484D possibly damaging Het
Syt14 A G 1: 192,579,866 (GRCm39) S473P probably damaging Het
Tpx2 T C 2: 152,724,255 (GRCm39) Y344H probably damaging Het
Ttc17 T C 2: 94,157,049 (GRCm39) N411S probably benign Het
Ttf2 A T 3: 100,870,028 (GRCm39) F348L probably benign Het
Ttn A T 2: 76,663,650 (GRCm39) V11675E unknown Het
Usp2 G T 9: 43,986,894 (GRCm39) R64L 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
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
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'- GAATTCCTGTGATGGTCCCC -3'
(R):5'- TACCTTTCGCAGTTGTGGC -3'

Sequencing Primer
(F):5'- GGATTCCCTGGCTTTCAAAAG -3'
(R):5'- CCCGTGGTGTAGTCCTGACAG -3'
Posted On 2021-08-02