Incidental Mutation 'R9626:Lamb1'
ID 725168
Institutional Source Beutler Lab
Gene Symbol Lamb1
Ensembl Gene ENSMUSG00000002900
Gene Name laminin B1
Synonyms Lamb-1, D130003D08Rik, C80098, C81607, Lamb1-1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9626 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 31315233-31379643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31354669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 972 (D972G)
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: D972G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002979
Gene: ENSMUSG00000002900
AA Change: D972G

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: D924G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132778
Gene: ENSMUSG00000002900
AA Change: D924G

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: 98.9%
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,127,502 (GRCm39) N37I unknown Het
Abca9 T A 11: 110,011,606 (GRCm39) T1146S probably benign Het
Acnat2 G A 4: 49,380,179 (GRCm39) H400Y probably damaging Het
Adgrd1 T C 5: 129,275,721 (GRCm39) S768P probably damaging Het
Arap2 T A 5: 62,906,878 (GRCm39) H47L probably benign Het
Atxn1 T A 13: 45,710,796 (GRCm39) N712I possibly damaging Het
Bri3bp T A 5: 125,531,572 (GRCm39) S173T probably damaging Het
Camta1 A T 4: 151,168,287 (GRCm39) S254R probably damaging Het
Card9 T C 2: 26,247,294 (GRCm39) E285G probably benign Het
Celf2 G A 2: 6,590,835 (GRCm39) A320V probably benign Het
Celsr3 T C 9: 108,726,521 (GRCm39) I3250T probably damaging Het
Cfap46 C T 7: 139,230,805 (GRCm39) R941H Het
Cntrob T C 11: 69,202,167 (GRCm39) H475R possibly damaging Het
Dcaf6 G A 1: 165,227,264 (GRCm39) R288* probably null Het
Ebna1bp2 G A 4: 118,478,371 (GRCm39) probably benign Het
Erich3 A T 3: 154,444,730 (GRCm39) D302V probably benign Het
Fbxo48 T A 11: 16,904,333 (GRCm39) *162K probably null Het
Fyttd1 T C 16: 32,725,915 (GRCm39) L290S probably damaging Het
Gcc1 T C 6: 28,418,917 (GRCm39) D472G probably damaging Het
Gjb4 C T 4: 127,246,081 (GRCm39) probably benign Het
Gm5157 G T 7: 20,919,396 (GRCm39) T49K probably damaging Het
Gpr143 GTTTTTT GTTTTTTT X: 151,578,627 (GRCm39) probably null Het
Hnrnpm G T 17: 33,896,264 (GRCm39) D88E probably damaging Het
Hormad2 G A 11: 4,377,372 (GRCm39) P22L probably damaging Het
Hunk C T 16: 90,272,791 (GRCm39) T365M probably damaging Het
Mamdc4 A G 2: 25,458,273 (GRCm39) L379P probably damaging Het
Mcrs1 A G 15: 99,146,353 (GRCm39) L179P probably damaging Het
Mterf2 C T 10: 84,956,295 (GRCm39) A110T probably benign Het
Mucl1 A G 15: 103,783,934 (GRCm39) S91P possibly damaging Het
Myo1d C A 11: 80,448,296 (GRCm39) G943V possibly damaging Het
Ndst4 A C 3: 125,476,829 (GRCm39) D18A probably damaging Het
Ndufv1 A T 19: 4,058,064 (GRCm39) C382* probably null Het
Npc1l1 T C 11: 6,177,854 (GRCm39) K519E probably benign Het
Nphs1 A G 7: 30,166,991 (GRCm39) K747E probably benign Het
Nubp2 C G 17: 25,103,374 (GRCm39) probably null Het
Odad2 G T 18: 7,211,422 (GRCm39) C817* probably null Het
Or13a19 T C 7: 139,903,236 (GRCm39) V208A probably benign Het
Or5b97 A T 19: 12,878,600 (GRCm39) D181E possibly damaging Het
Or7a36 T G 10: 78,820,213 (GRCm39) D196E probably benign Het
Or7a40 A G 16: 16,491,491 (GRCm39) M118T probably damaging Het
Or8b48 A G 9: 38,492,977 (GRCm39) T135A probably benign Het
Pcdhac2 T G 18: 37,279,555 (GRCm39) L845R probably damaging Het
Pcdhb14 A C 18: 37,581,787 (GRCm39) T298P probably damaging Het
Phldb2 A T 16: 45,592,547 (GRCm39) L957Q possibly damaging Het
Pole A G 5: 110,459,959 (GRCm39) D1121G possibly damaging Het
Ppp1r3g C A 13: 36,153,612 (GRCm39) T344K probably benign Het
Prpf8 A G 11: 75,385,681 (GRCm39) K954R possibly damaging Het
Prr15l C A 11: 96,825,440 (GRCm39) Y23* probably null Het
Sap18b A G 8: 96,552,098 (GRCm39) E36G possibly damaging Het
Slc46a2 A T 4: 59,914,241 (GRCm39) F227L probably benign Het
Spata13 C T 14: 60,944,349 (GRCm39) P581S probably benign Het
Spmip4 T A 6: 50,550,930 (GRCm39) K506N Het
Ssc5d C A 7: 4,946,568 (GRCm39) T974K probably benign Het
Tenm4 C A 7: 96,545,345 (GRCm39) R2491S probably damaging Het
Tex2 T C 11: 106,437,579 (GRCm39) E697G unknown Het
Tmem44 A T 16: 30,366,226 (GRCm39) F67I possibly damaging Het
Trpm6 A T 19: 18,790,846 (GRCm39) Q627L probably damaging Het
Ttc39a A G 4: 109,278,570 (GRCm39) D77G possibly damaging Het
Ttc9 A G 12: 81,710,301 (GRCm39) I198V probably benign Het
Ttn C T 2: 76,661,550 (GRCm39) V11942M unknown Het
Uqcrc2 T A 7: 120,237,118 (GRCm39) Y55* probably null Het
Vmn1r160 A T 7: 22,571,273 (GRCm39) M209L probably benign Het
Vmn2r50 A T 7: 9,771,960 (GRCm39) C580* probably null Het
Vmn2r96 A G 17: 18,793,758 (GRCm39) E34G probably benign Het
Zmynd8 C T 2: 165,654,268 (GRCm39) probably null 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
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
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'- TTCATGAAGAATCACGTCCTCC -3'
(R):5'- CACGTGCTACCAGGTAAAGG -3'

Sequencing Primer
(F):5'- GTCCTCCAGCAGAAGAGAGTTTC -3'
(R):5'- CAAGATCGTCGTGAGTCCCTTAAG -3'
Posted On 2022-09-12