Incidental Mutation 'R4895:Lamb3'
ID 377536
Institutional Source Beutler Lab
Gene Symbol Lamb3
Ensembl Gene ENSMUSG00000026639
Gene Name laminin, beta 3
Synonyms nicein, 125kDa
MMRRC Submission 042499-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.666) question?
Stock # R4895 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 192976661-193026186 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 193014622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 594 (R594*)
Ref Sequence ENSEMBL: ENSMUSP00000142053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016315] [ENSMUST00000159955] [ENSMUST00000194677]
AlphaFold Q61087
Predicted Effect probably null
Transcript: ENSMUST00000016315
AA Change: R594*
SMART Domains Protein: ENSMUSP00000016315
Gene: ENSMUSG00000026639
AA Change: R594*

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
LamNT 20 248 7.63e-84 SMART
EGF_Lam 250 310 1.67e-7 SMART
EGF_Lam 313 373 1.14e-9 SMART
EGF_Lam 376 425 5.56e-13 SMART
EGF_Lam 428 475 6.05e-14 SMART
EGF_Lam 478 528 5e-6 SMART
EGF_Lam 531 575 3.01e-9 SMART
low complexity region 662 673 N/A INTRINSIC
low complexity region 727 763 N/A INTRINSIC
coiled coil region 830 879 N/A INTRINSIC
coiled coil region 949 979 N/A INTRINSIC
coiled coil region 1037 1090 N/A INTRINSIC
low complexity region 1116 1126 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000159955
AA Change: R594*
SMART Domains Protein: ENSMUSP00000123875
Gene: ENSMUSG00000026639
AA Change: R594*

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
LamNT 20 248 7.63e-84 SMART
EGF_Lam 250 310 1.67e-7 SMART
EGF_Lam 313 373 1.14e-9 SMART
EGF_Lam 376 425 5.56e-13 SMART
EGF_Lam 428 475 6.05e-14 SMART
EGF_Lam 478 528 5e-6 SMART
EGF_Lam 531 575 3.01e-9 SMART
low complexity region 662 673 N/A INTRINSIC
low complexity region 727 763 N/A INTRINSIC
coiled coil region 830 879 N/A INTRINSIC
coiled coil region 949 979 N/A INTRINSIC
coiled coil region 1037 1090 N/A INTRINSIC
low complexity region 1116 1126 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000194677
AA Change: R594*
SMART Domains Protein: ENSMUSP00000142053
Gene: ENSMUSG00000026639
AA Change: R594*

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
LamNT 20 248 7.63e-84 SMART
EGF_Lam 250 310 1.67e-7 SMART
EGF_Lam 313 373 1.14e-9 SMART
EGF_Lam 376 425 5.56e-13 SMART
EGF_Lam 428 475 6.05e-14 SMART
EGF_Lam 478 528 5e-6 SMART
EGF_Lam 531 575 3.01e-9 SMART
low complexity region 662 673 N/A INTRINSIC
low complexity region 727 763 N/A INTRINSIC
coiled coil region 830 879 N/A INTRINSIC
coiled coil region 949 979 N/A INTRINSIC
coiled coil region 1037 1090 N/A INTRINSIC
low complexity region 1116 1126 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (84/86)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a spontaneous intracisternal A particle sequence insertion exhibit blistering of the skin and mucosal surfaces with abnormal hemidesmosomes. Mutants die neonatally, usually without feeding. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik C A 2: 154,454,990 (GRCm39) probably benign Het
Abat G A 16: 8,433,826 (GRCm39) A392T probably benign Het
Abca14 G A 7: 119,846,572 (GRCm39) probably null Het
Abcc6 A T 7: 45,630,414 (GRCm39) L1282Q possibly damaging Het
Acss2 A G 2: 155,392,401 (GRCm39) probably benign Het
Adgrf1 G T 17: 43,621,511 (GRCm39) V583L probably benign Het
Aftph T C 11: 20,646,801 (GRCm39) D825G probably damaging Het
Ahnak T C 19: 8,994,805 (GRCm39) V5363A probably benign Het
Apba3 G A 10: 81,107,117 (GRCm39) probably null Het
Asb13 T C 13: 3,693,589 (GRCm39) Y116H probably damaging Het
Asb4 C A 6: 5,398,266 (GRCm39) T77K probably damaging Het
Atp8b4 A T 2: 126,256,289 (GRCm39) H223Q probably benign Het
Best1 A G 19: 9,970,135 (GRCm39) L159P probably benign Het
Cacna1h A T 17: 25,608,396 (GRCm39) M731K probably damaging Het
Catspere1 T A 1: 177,687,427 (GRCm39) noncoding transcript Het
Cenpv A T 11: 62,418,346 (GRCm39) Y202* probably null Het
Cep57 A T 9: 13,727,449 (GRCm39) probably benign Het
Cfap100 T A 6: 90,383,084 (GRCm39) D363V possibly damaging Het
Cluh A G 11: 74,558,231 (GRCm39) Y1126C probably damaging Het
Cyp2j5 A G 4: 96,551,347 (GRCm39) probably null Het
Dnajc11 T C 4: 152,064,390 (GRCm39) F514L probably damaging Het
Efcab3 C T 11: 104,611,112 (GRCm39) T318I probably benign Het
Efcab3 T A 11: 105,008,227 (GRCm39) probably benign Het
Efcab3 A G 11: 104,640,496 (GRCm39) D1026G probably damaging Het
Eif2b4 T G 5: 31,350,298 (GRCm39) Q8P probably benign Het
Epha6 A T 16: 59,486,918 (GRCm39) V1043E probably benign Het
Gm11562 G T 11: 99,511,141 (GRCm39) Q20K unknown Het
Gm14415 A T 2: 176,796,114 (GRCm39) noncoding transcript Het
Gm5431 A G 11: 48,779,855 (GRCm39) S634P probably damaging Het
Gpld1 C A 13: 25,163,711 (GRCm39) N501K probably damaging Het
Gsn C T 2: 35,192,590 (GRCm39) R513C probably damaging Het
Gulp1 T C 1: 44,827,757 (GRCm39) F300L probably benign Het
H2aj T C 6: 136,785,660 (GRCm39) V108A possibly damaging Het
Haus3 T C 5: 34,325,414 (GRCm39) R82G probably benign Het
Herc2 G A 7: 55,872,734 (GRCm39) R4424H probably damaging Het
Hmcn1 T A 1: 150,553,130 (GRCm39) Q2520L probably benign Het
Hs2st1 T C 3: 144,171,014 (GRCm39) I53V probably benign Het
Inpp5e C T 2: 26,287,924 (GRCm39) R624Q probably damaging Het
Ints8 G T 4: 11,230,367 (GRCm39) C491* probably null Het
Itpkb C A 1: 180,241,460 (GRCm39) A710D probably damaging Het
Kcnk4 A C 19: 6,905,784 (GRCm39) probably null Het
Kmt2d T C 15: 98,742,368 (GRCm39) probably benign Het
Map3k20 A G 2: 72,232,700 (GRCm39) probably benign Het
Maz A T 7: 126,624,472 (GRCm39) probably null Het
Mtr T C 13: 12,231,752 (GRCm39) T651A probably benign Het
Nbeal1 A G 1: 60,332,062 (GRCm39) E2252G probably damaging Het
Ndufa10 A G 1: 92,397,618 (GRCm39) Y61H probably damaging Het
Npat T A 9: 53,481,789 (GRCm39) L1166M probably damaging Het
Or12e1 A C 2: 87,022,192 (GRCm39) I54L probably benign Het
Or4c108 A T 2: 88,804,055 (GRCm39) F60Y probably benign Het
Or5ak20 A T 2: 85,183,341 (GRCm39) *310K probably null Het
Or5b97 C T 19: 12,878,251 (GRCm39) V298M probably damaging Het
Or5h22 C T 16: 58,895,020 (GRCm39) C141Y probably benign Het
Or5p66 A C 7: 107,885,802 (GRCm39) I177S probably damaging Het
Pcdhb3 T C 18: 37,434,759 (GRCm39) F242L probably damaging Het
Phip A G 9: 82,841,648 (GRCm39) V57A probably benign Het
Plekha7 A T 7: 115,788,626 (GRCm39) probably null Het
Pot1a A C 6: 25,753,205 (GRCm39) F444V probably damaging Het
Ppm1a C T 12: 72,831,126 (GRCm39) P217L probably damaging Het
Prepl A G 17: 85,388,494 (GRCm39) F203S probably damaging Het
Prl8a1 T C 13: 27,759,513 (GRCm39) I175V probably benign Het
Ranbp6 A T 19: 29,787,175 (GRCm39) I1059N possibly damaging Het
Rhag A G 17: 41,122,242 (GRCm39) Q59R probably benign Het
Sema4c A C 1: 36,592,651 (GRCm39) probably null Het
Sf3b3 T C 8: 111,542,656 (GRCm39) D902G probably benign Het
Tbc1d23 A G 16: 57,019,220 (GRCm39) probably null Het
Tbrg1 A T 9: 37,566,375 (GRCm39) I54N probably damaging Het
Tchh A T 3: 93,352,993 (GRCm39) E811V unknown Het
Tenm3 T A 8: 48,754,006 (GRCm39) D799V probably damaging Het
Tlr5 T C 1: 182,801,764 (GRCm39) L342P probably damaging Het
Tppp C T 13: 74,178,996 (GRCm39) R146* probably null Het
Trpm4 A T 7: 44,967,482 (GRCm39) M574K probably damaging Het
Uggt1 A T 1: 36,195,345 (GRCm39) F1288Y probably damaging Het
Uggt2 T A 14: 119,256,298 (GRCm39) K1124N probably damaging Het
Usf3 A C 16: 44,041,459 (GRCm39) S1980R possibly damaging Het
Vav2 T C 2: 27,208,973 (GRCm39) D100G probably damaging Het
Vmn2r3 G T 3: 64,167,182 (GRCm39) H650N probably benign Het
Vmn2r59 T A 7: 41,695,218 (GRCm39) Y398F probably damaging Het
Zfp619 A G 7: 39,187,396 (GRCm39) D1142G possibly damaging Het
Zfp933 G A 4: 147,910,892 (GRCm39) R235* probably null Het
Other mutations in Lamb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Lamb3 APN 1 193,002,755 (GRCm39) missense probably damaging 1.00
IGL00898:Lamb3 APN 1 193,021,191 (GRCm39) missense possibly damaging 0.81
IGL01599:Lamb3 APN 1 193,025,720 (GRCm39) missense probably benign
IGL02108:Lamb3 APN 1 193,014,530 (GRCm39) missense probably damaging 1.00
IGL02218:Lamb3 APN 1 193,010,941 (GRCm39) critical splice acceptor site probably null
IGL02437:Lamb3 APN 1 193,010,253 (GRCm39) missense probably damaging 1.00
IGL02659:Lamb3 APN 1 193,014,469 (GRCm39) missense probably damaging 1.00
IGL02677:Lamb3 APN 1 193,021,830 (GRCm39) missense probably benign 0.01
IGL02815:Lamb3 APN 1 193,007,863 (GRCm39) splice site probably benign
G1patch:Lamb3 UTSW 1 192,986,890 (GRCm39) missense probably benign 0.05
R0238:Lamb3 UTSW 1 193,003,361 (GRCm39) missense probably damaging 1.00
R0238:Lamb3 UTSW 1 193,003,361 (GRCm39) missense probably damaging 1.00
R0239:Lamb3 UTSW 1 193,003,361 (GRCm39) missense probably damaging 1.00
R0239:Lamb3 UTSW 1 193,003,361 (GRCm39) missense probably damaging 1.00
R0240:Lamb3 UTSW 1 193,017,335 (GRCm39) missense probably damaging 1.00
R0240:Lamb3 UTSW 1 193,017,335 (GRCm39) missense probably damaging 1.00
R0265:Lamb3 UTSW 1 193,002,839 (GRCm39) missense probably damaging 1.00
R0455:Lamb3 UTSW 1 193,025,700 (GRCm39) missense probably damaging 0.99
R0647:Lamb3 UTSW 1 193,013,104 (GRCm39) missense probably damaging 0.99
R0669:Lamb3 UTSW 1 193,014,638 (GRCm39) missense probably damaging 1.00
R0826:Lamb3 UTSW 1 193,013,216 (GRCm39) nonsense probably null
R1552:Lamb3 UTSW 1 193,013,067 (GRCm39) splice site probably null
R1560:Lamb3 UTSW 1 193,021,710 (GRCm39) missense probably benign 0.05
R1593:Lamb3 UTSW 1 193,013,104 (GRCm39) missense probably damaging 0.99
R1599:Lamb3 UTSW 1 193,002,801 (GRCm39) missense probably damaging 1.00
R1831:Lamb3 UTSW 1 193,017,187 (GRCm39) missense probably damaging 0.99
R1848:Lamb3 UTSW 1 193,016,924 (GRCm39) missense possibly damaging 0.96
R2117:Lamb3 UTSW 1 193,016,489 (GRCm39) missense probably benign 0.00
R2147:Lamb3 UTSW 1 193,010,212 (GRCm39) missense probably benign 0.00
R2148:Lamb3 UTSW 1 193,010,212 (GRCm39) missense probably benign 0.00
R2879:Lamb3 UTSW 1 193,013,092 (GRCm39) missense possibly damaging 0.67
R3019:Lamb3 UTSW 1 193,013,717 (GRCm39) critical splice donor site probably null
R4380:Lamb3 UTSW 1 193,013,683 (GRCm39) missense probably benign 0.10
R4648:Lamb3 UTSW 1 193,013,665 (GRCm39) missense probably damaging 0.99
R4758:Lamb3 UTSW 1 193,022,269 (GRCm39) missense possibly damaging 0.65
R4790:Lamb3 UTSW 1 193,022,194 (GRCm39) missense probably damaging 1.00
R5316:Lamb3 UTSW 1 193,012,501 (GRCm39) missense probably benign 0.00
R5457:Lamb3 UTSW 1 193,008,302 (GRCm39) missense probably damaging 1.00
R5952:Lamb3 UTSW 1 193,014,670 (GRCm39) missense probably benign 0.04
R5965:Lamb3 UTSW 1 193,025,768 (GRCm39) missense probably damaging 1.00
R6334:Lamb3 UTSW 1 193,017,782 (GRCm39) missense probably damaging 0.96
R6522:Lamb3 UTSW 1 193,017,761 (GRCm39) missense probably benign 0.01
R6725:Lamb3 UTSW 1 192,986,890 (GRCm39) missense probably benign 0.05
R6791:Lamb3 UTSW 1 193,017,169 (GRCm39) missense possibly damaging 0.93
R6828:Lamb3 UTSW 1 193,017,756 (GRCm39) missense probably benign 0.00
R7143:Lamb3 UTSW 1 192,986,873 (GRCm39) missense probably damaging 1.00
R7329:Lamb3 UTSW 1 193,002,848 (GRCm39) missense possibly damaging 0.89
R7439:Lamb3 UTSW 1 193,014,474 (GRCm39) missense possibly damaging 0.80
R7556:Lamb3 UTSW 1 193,014,757 (GRCm39) missense probably benign
R8051:Lamb3 UTSW 1 193,012,375 (GRCm39) missense possibly damaging 0.80
R8220:Lamb3 UTSW 1 193,016,556 (GRCm39) missense probably damaging 1.00
R8719:Lamb3 UTSW 1 193,006,099 (GRCm39) missense probably damaging 1.00
R8878:Lamb3 UTSW 1 193,013,124 (GRCm39) missense probably damaging 1.00
R8880:Lamb3 UTSW 1 193,003,363 (GRCm39) missense possibly damaging 0.74
R8885:Lamb3 UTSW 1 193,017,182 (GRCm39) missense probably benign 0.04
R8893:Lamb3 UTSW 1 193,014,644 (GRCm39) missense probably damaging 1.00
R8934:Lamb3 UTSW 1 193,021,168 (GRCm39) missense probably damaging 1.00
R8944:Lamb3 UTSW 1 193,014,525 (GRCm39) nonsense probably null
R9043:Lamb3 UTSW 1 193,007,919 (GRCm39) nonsense probably null
R9219:Lamb3 UTSW 1 193,010,232 (GRCm39) missense probably damaging 1.00
R9329:Lamb3 UTSW 1 193,014,665 (GRCm39) missense probably benign 0.28
R9402:Lamb3 UTSW 1 193,013,704 (GRCm39) missense
R9415:Lamb3 UTSW 1 193,008,319 (GRCm39) missense probably benign 0.13
R9555:Lamb3 UTSW 1 193,011,113 (GRCm39) missense possibly damaging 0.67
X0066:Lamb3 UTSW 1 193,021,722 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTCAGAGGAACAGAGGGTCC -3'
(R):5'- TGTGGTCCTCACCCAAATCC -3'

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