Incidental Mutation 'R7211:Lama4'
ID 561085
Institutional Source Beutler Lab
Gene Symbol Lama4
Ensembl Gene ENSMUSG00000019846
Gene Name laminin, alpha 4
Synonyms laminin [a]4
MMRRC Submission 045339-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7211 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 38841511-38986184 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38881491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 93 (D93E)
Ref Sequence ENSEMBL: ENSMUSP00000019992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019992]
AlphaFold P97927
Predicted Effect probably damaging
Transcript: ENSMUST00000019992
AA Change: D93E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000019992
Gene: ENSMUSG00000019846
AA Change: D93E

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
EGF_Lam 82 129 1.95e-8 SMART
EGF_Lam 132 184 5.78e-11 SMART
EGF_Lam 187 238 9.83e-14 SMART
Pfam:Laminin_I 283 548 5.3e-71 PFAM
coiled coil region 658 685 N/A INTRINSIC
LamG 850 1009 9.54e-11 SMART
LamG 1066 1205 5.9e-25 SMART
LamG 1250 1374 6.68e-24 SMART
LamG 1484 1619 1.54e-37 SMART
LamG 1661 1794 3.63e-34 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (84/85)
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 alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired motor control of the hind limbs associated with improperly positioned synaptic active zones and junctional folds, and prenatal and neonatal hemorrhages associated with capillary defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a T A 2: 154,887,699 (GRCm39) V53E probably damaging Het
A1cf A G 19: 31,904,541 (GRCm39) Y268C probably benign Het
Adam34l T A 8: 44,078,914 (GRCm39) S437C probably damaging Het
Adamts13 C T 2: 26,879,310 (GRCm39) T621I probably benign Het
Akr1b7 A T 6: 34,398,049 (GRCm39) N293Y probably benign Het
Angpt2 T A 8: 18,791,147 (GRCm39) T50S probably benign Het
Anks1b C A 10: 90,346,932 (GRCm39) A744D possibly damaging Het
Aqr A G 2: 113,965,204 (GRCm39) V587A probably benign Het
Atm A G 9: 53,399,860 (GRCm39) V1540A probably benign Het
Brd10 A G 19: 29,763,712 (GRCm39) F121S Het
C4b A G 17: 34,954,508 (GRCm39) V887A possibly damaging Het
Cd200r1 A G 16: 44,609,120 (GRCm39) T26A probably benign Het
Ciao1 A G 2: 127,088,928 (GRCm39) probably null Het
Clba1 T A 12: 112,774,632 (GRCm39) probably null Het
Clca3a2 A G 3: 144,519,775 (GRCm39) C200R probably benign Het
Col6a5 T A 9: 105,805,363 (GRCm39) Q1181L unknown Het
Copb2 T A 9: 98,456,198 (GRCm39) I244N probably damaging Het
Cpb2 A G 14: 75,512,430 (GRCm39) Y281C probably damaging Het
Disp3 C A 4: 148,325,979 (GRCm39) V1260F probably damaging Het
Dnajc2 C T 5: 21,981,777 (GRCm39) R123Q probably damaging Het
Dpysl2 T C 14: 67,067,425 (GRCm39) N162S probably damaging Het
Dsp T A 13: 38,372,511 (GRCm39) probably null Het
Edc4 T A 8: 106,612,941 (GRCm39) probably null Het
Efcab3 C A 11: 104,601,539 (GRCm39) A284D probably benign Het
Efcab3 G T 11: 104,615,435 (GRCm39) probably null Het
Epm2a T C 10: 11,219,419 (GRCm39) Y69H probably benign Het
Frzb C A 2: 80,248,669 (GRCm39) E262* probably null Het
Gaa T C 11: 119,175,030 (GRCm39) V877A possibly damaging Het
Gpnmb T C 6: 49,028,949 (GRCm39) I489T possibly damaging Het
Gpr31b T C 17: 13,271,104 (GRCm39) T22A probably benign Het
Gys1 T A 7: 45,097,684 (GRCm39) F477Y possibly damaging Het
Hoxc11 A C 15: 102,863,487 (GRCm39) E176A possibly damaging Het
Kcnk13 T A 12: 100,028,076 (GRCm39) F384I probably damaging Het
Ky A G 9: 102,386,349 (GRCm39) E59G probably benign Het
Lrrc23 A T 6: 124,755,152 (GRCm39) N128K probably benign Het
Lrrc71 G T 3: 87,650,633 (GRCm39) Q210K possibly damaging Het
Map1a G A 2: 121,135,124 (GRCm39) R1980H probably benign Het
Med15 T C 16: 17,515,977 (GRCm39) D15G unknown Het
Mfng A T 15: 78,657,268 (GRCm39) S69T probably benign Het
Muc16 T G 9: 18,409,866 (GRCm39) S181R probably damaging Het
Mug1 A T 6: 121,857,498 (GRCm39) Q1074L possibly damaging Het
Myorg A G 4: 41,498,028 (GRCm39) I534T probably damaging Het
Nbea T A 3: 55,912,322 (GRCm39) N1155I probably benign Het
Nbeal1 T G 1: 60,240,110 (GRCm39) L159V probably damaging Het
Nudt1 C A 5: 140,323,402 (GRCm39) P118Q possibly damaging Het
Or2q1 A T 6: 42,794,950 (GRCm39) T182S probably benign Het
Or8g37 A C 9: 39,731,154 (GRCm39) Q73P possibly damaging Het
Pcdhga6 T A 18: 37,842,173 (GRCm39) V631D probably benign Het
Pcna A C 2: 132,091,792 (GRCm39) V203G probably damaging Het
Pgf G T 12: 85,222,549 (GRCm39) N33K probably benign Het
Pgm2 T C 5: 64,263,193 (GRCm39) L280P probably damaging Het
Plcg1 G A 2: 160,573,794 (GRCm39) A20T probably benign Het
Pou2af2 G T 9: 51,201,733 (GRCm39) Q108K probably damaging Het
Prdx5 G T 19: 6,884,958 (GRCm39) D126E probably damaging Het
Prkag2 T C 5: 25,200,296 (GRCm39) T20A probably benign Het
Prr14l T A 5: 32,987,431 (GRCm39) Q688L probably damaging Het
Pxdn T G 12: 30,034,903 (GRCm39) D253E possibly damaging Het
Rbm18 A T 2: 36,012,905 (GRCm39) C53* probably null Het
Rprm A T 2: 53,975,270 (GRCm39) L16Q probably benign Het
Saysd1 A G 14: 20,127,576 (GRCm39) F116S probably damaging Het
Scg3 A G 9: 75,589,366 (GRCm39) S96P probably benign Het
Scgb1b3 C T 7: 31,075,078 (GRCm39) L16F unknown Het
Sh3tc2 A G 18: 62,122,474 (GRCm39) T412A probably benign Het
Skint6 T C 4: 113,095,566 (GRCm39) N31S probably benign Het
Slc22a2 T C 17: 12,805,770 (GRCm39) probably null Het
Slc8a2 C T 7: 15,874,538 (GRCm39) T262I possibly damaging Het
Smarcc1 A T 9: 109,979,082 (GRCm39) K188N probably damaging Het
Taf6 T C 5: 138,177,088 (GRCm39) T660A possibly damaging Het
Tbx2 C T 11: 85,725,540 (GRCm39) R164C probably damaging Het
Tec T C 5: 72,939,355 (GRCm39) D220G probably null Het
Tfec A T 6: 16,867,464 (GRCm39) W59R probably damaging Het
Tmtc2 G T 10: 105,409,587 (GRCm39) S8R probably benign Het
Tmtc3 A T 10: 100,283,467 (GRCm39) M696K probably benign Het
Trpc3 A T 3: 36,694,882 (GRCm39) S691T possibly damaging Het
Ttf2 A T 3: 100,866,623 (GRCm39) M503K probably benign Het
Ttll7 A G 3: 146,619,031 (GRCm39) H312R probably damaging Het
Ttn T C 2: 76,598,032 (GRCm39) Y19627C probably damaging Het
Ugt2b35 T C 5: 87,149,177 (GRCm39) S143P probably benign Het
Usp53 A G 3: 122,751,299 (GRCm39) S253P probably damaging Het
Utp18 A G 11: 93,776,206 (GRCm39) V93A probably benign Het
Utrn T C 10: 12,277,079 (GRCm39) N3413D possibly damaging Het
Zhx1 T C 15: 57,916,647 (GRCm39) D533G possibly damaging Het
Other mutations in Lama4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Lama4 APN 10 38,941,591 (GRCm39) splice site probably benign
IGL00091:Lama4 APN 10 38,948,801 (GRCm39) missense probably damaging 1.00
IGL00429:Lama4 APN 10 38,887,022 (GRCm39) missense possibly damaging 0.58
IGL00430:Lama4 APN 10 38,921,700 (GRCm39) missense possibly damaging 0.54
IGL01074:Lama4 APN 10 38,974,484 (GRCm39) critical splice donor site probably null
IGL01386:Lama4 APN 10 38,887,060 (GRCm39) missense probably benign 0.00
IGL01603:Lama4 APN 10 38,941,642 (GRCm39) missense possibly damaging 0.92
IGL01643:Lama4 APN 10 38,932,846 (GRCm39) missense probably benign
IGL01655:Lama4 APN 10 38,936,209 (GRCm39) missense probably benign
IGL01954:Lama4 APN 10 38,963,295 (GRCm39) missense probably benign 0.05
IGL01984:Lama4 APN 10 38,951,525 (GRCm39) critical splice donor site probably null
IGL02193:Lama4 APN 10 38,918,670 (GRCm39) missense probably benign
IGL02290:Lama4 APN 10 38,893,360 (GRCm39) missense probably benign 0.00
IGL02441:Lama4 APN 10 38,937,441 (GRCm39) missense probably benign 0.20
IGL02549:Lama4 APN 10 38,936,200 (GRCm39) missense probably benign 0.00
IGL02797:Lama4 APN 10 38,932,920 (GRCm39) missense probably null 0.00
IGL02819:Lama4 APN 10 38,902,565 (GRCm39) missense possibly damaging 0.80
IGL03122:Lama4 APN 10 38,943,959 (GRCm39) missense probably benign
IGL03184:Lama4 APN 10 38,954,839 (GRCm39) missense probably damaging 1.00
IGL03307:Lama4 APN 10 38,893,379 (GRCm39) missense probably benign
BB006:Lama4 UTSW 10 38,954,843 (GRCm39) missense probably damaging 1.00
BB016:Lama4 UTSW 10 38,954,843 (GRCm39) missense probably damaging 1.00
PIT4585001:Lama4 UTSW 10 38,950,742 (GRCm39) missense probably damaging 1.00
R0003:Lama4 UTSW 10 38,936,218 (GRCm39) missense possibly damaging 0.55
R0015:Lama4 UTSW 10 38,951,432 (GRCm39) missense possibly damaging 0.87
R0015:Lama4 UTSW 10 38,951,432 (GRCm39) missense possibly damaging 0.87
R0035:Lama4 UTSW 10 38,948,734 (GRCm39) missense probably benign 0.01
R0141:Lama4 UTSW 10 38,968,274 (GRCm39) missense probably benign 0.05
R0257:Lama4 UTSW 10 38,970,880 (GRCm39) splice site probably benign
R0267:Lama4 UTSW 10 38,904,635 (GRCm39) missense probably damaging 0.96
R0557:Lama4 UTSW 10 38,964,393 (GRCm39) missense probably benign 0.38
R1052:Lama4 UTSW 10 38,968,241 (GRCm39) missense possibly damaging 0.68
R1248:Lama4 UTSW 10 38,932,843 (GRCm39) missense probably damaging 0.99
R1249:Lama4 UTSW 10 38,951,474 (GRCm39) missense probably damaging 1.00
R1291:Lama4 UTSW 10 38,924,065 (GRCm39) missense probably benign 0.00
R1307:Lama4 UTSW 10 38,946,028 (GRCm39) missense probably benign 0.06
R1404:Lama4 UTSW 10 38,937,387 (GRCm39) missense probably benign 0.09
R1404:Lama4 UTSW 10 38,937,387 (GRCm39) missense probably benign 0.09
R1443:Lama4 UTSW 10 38,949,639 (GRCm39) missense probably damaging 1.00
R1499:Lama4 UTSW 10 38,964,876 (GRCm39) missense possibly damaging 0.92
R1616:Lama4 UTSW 10 38,951,446 (GRCm39) missense probably damaging 1.00
R1691:Lama4 UTSW 10 38,956,559 (GRCm39) missense probably benign 0.09
R1748:Lama4 UTSW 10 38,941,615 (GRCm39) missense probably benign 0.01
R1768:Lama4 UTSW 10 38,979,497 (GRCm39) missense possibly damaging 0.82
R1772:Lama4 UTSW 10 38,936,220 (GRCm39) missense probably benign 0.00
R1813:Lama4 UTSW 10 38,936,182 (GRCm39) missense probably damaging 1.00
R1813:Lama4 UTSW 10 38,909,121 (GRCm39) splice site probably benign
R1897:Lama4 UTSW 10 38,936,182 (GRCm39) missense probably damaging 1.00
R1907:Lama4 UTSW 10 38,948,754 (GRCm39) missense probably benign 0.13
R1943:Lama4 UTSW 10 38,973,134 (GRCm39) missense possibly damaging 0.85
R2041:Lama4 UTSW 10 38,945,987 (GRCm39) missense probably damaging 1.00
R2242:Lama4 UTSW 10 38,902,689 (GRCm39) missense probably damaging 1.00
R2300:Lama4 UTSW 10 38,963,316 (GRCm39) missense probably benign
R2326:Lama4 UTSW 10 38,918,563 (GRCm39) splice site probably null
R2570:Lama4 UTSW 10 38,982,043 (GRCm39) missense probably damaging 1.00
R2570:Lama4 UTSW 10 38,951,354 (GRCm39) missense possibly damaging 0.94
R2571:Lama4 UTSW 10 38,918,671 (GRCm39) missense possibly damaging 0.55
R2887:Lama4 UTSW 10 38,968,250 (GRCm39) missense possibly damaging 0.94
R2926:Lama4 UTSW 10 38,954,828 (GRCm39) missense probably benign 0.16
R3237:Lama4 UTSW 10 38,973,175 (GRCm39) missense probably damaging 0.97
R4095:Lama4 UTSW 10 38,973,118 (GRCm39) missense probably damaging 1.00
R4151:Lama4 UTSW 10 38,881,424 (GRCm39) missense probably benign 0.00
R4470:Lama4 UTSW 10 38,956,492 (GRCm39) nonsense probably null
R4812:Lama4 UTSW 10 38,948,765 (GRCm39) missense probably benign
R4822:Lama4 UTSW 10 38,909,049 (GRCm39) missense probably benign 0.01
R4997:Lama4 UTSW 10 38,968,262 (GRCm39) missense probably damaging 0.99
R5119:Lama4 UTSW 10 38,924,050 (GRCm39) missense probably benign 0.00
R5468:Lama4 UTSW 10 38,948,678 (GRCm39) splice site probably null
R5909:Lama4 UTSW 10 38,948,855 (GRCm39) missense probably benign 0.00
R5917:Lama4 UTSW 10 38,924,028 (GRCm39) missense probably benign 0.10
R5927:Lama4 UTSW 10 38,948,808 (GRCm39) missense probably damaging 1.00
R5950:Lama4 UTSW 10 38,906,444 (GRCm39) missense probably benign 0.03
R6051:Lama4 UTSW 10 38,943,898 (GRCm39) missense probably benign 0.01
R6277:Lama4 UTSW 10 38,982,006 (GRCm39) missense probably damaging 1.00
R6294:Lama4 UTSW 10 38,951,466 (GRCm39) missense probably damaging 1.00
R6372:Lama4 UTSW 10 38,943,948 (GRCm39) missense probably benign
R6532:Lama4 UTSW 10 38,924,073 (GRCm39) missense possibly damaging 0.58
R6547:Lama4 UTSW 10 38,949,652 (GRCm39) missense probably damaging 1.00
R6578:Lama4 UTSW 10 38,893,361 (GRCm39) missense probably benign 0.01
R6737:Lama4 UTSW 10 38,970,907 (GRCm39) missense probably damaging 0.96
R6987:Lama4 UTSW 10 38,950,275 (GRCm39) missense probably benign 0.00
R7040:Lama4 UTSW 10 38,936,158 (GRCm39) missense possibly damaging 0.69
R7139:Lama4 UTSW 10 38,951,491 (GRCm39) missense probably damaging 1.00
R7188:Lama4 UTSW 10 38,841,729 (GRCm39) start gained probably benign
R7189:Lama4 UTSW 10 38,841,729 (GRCm39) start gained probably benign
R7199:Lama4 UTSW 10 38,956,536 (GRCm39) missense possibly damaging 0.84
R7262:Lama4 UTSW 10 38,970,930 (GRCm39) missense probably damaging 1.00
R7274:Lama4 UTSW 10 38,968,295 (GRCm39) missense probably benign 0.00
R7311:Lama4 UTSW 10 38,902,631 (GRCm39) missense probably damaging 1.00
R7391:Lama4 UTSW 10 38,963,383 (GRCm39) critical splice donor site probably null
R7399:Lama4 UTSW 10 38,923,944 (GRCm39) missense probably damaging 0.98
R7426:Lama4 UTSW 10 38,921,751 (GRCm39) missense possibly damaging 0.82
R7472:Lama4 UTSW 10 38,963,369 (GRCm39) missense possibly damaging 0.65
R7635:Lama4 UTSW 10 38,968,184 (GRCm39) missense probably benign
R7775:Lama4 UTSW 10 38,954,843 (GRCm39) missense probably damaging 1.00
R7805:Lama4 UTSW 10 38,902,747 (GRCm39) critical splice donor site probably null
R7885:Lama4 UTSW 10 38,964,840 (GRCm39) missense probably benign 0.01
R7895:Lama4 UTSW 10 38,964,325 (GRCm39) missense probably damaging 0.96
R7910:Lama4 UTSW 10 38,946,005 (GRCm39) missense probably damaging 0.99
R7929:Lama4 UTSW 10 38,954,843 (GRCm39) missense probably damaging 1.00
R7952:Lama4 UTSW 10 38,906,486 (GRCm39) missense probably benign 0.39
R7991:Lama4 UTSW 10 38,921,805 (GRCm39) missense possibly damaging 0.70
R8059:Lama4 UTSW 10 38,842,057 (GRCm39) missense probably benign 0.00
R8194:Lama4 UTSW 10 38,954,716 (GRCm39) missense probably damaging 0.99
R8248:Lama4 UTSW 10 38,937,375 (GRCm39) missense possibly damaging 0.82
R8252:Lama4 UTSW 10 38,936,142 (GRCm39) missense probably benign 0.00
R8265:Lama4 UTSW 10 38,981,200 (GRCm39) missense probably damaging 1.00
R8275:Lama4 UTSW 10 38,948,807 (GRCm39) missense probably damaging 1.00
R8426:Lama4 UTSW 10 38,979,487 (GRCm39) missense probably damaging 0.98
R8434:Lama4 UTSW 10 38,902,703 (GRCm39) missense possibly damaging 0.92
R8720:Lama4 UTSW 10 38,971,079 (GRCm39) missense probably damaging 0.97
R8792:Lama4 UTSW 10 38,924,048 (GRCm39) missense probably benign 0.00
R8836:Lama4 UTSW 10 38,902,587 (GRCm39) missense probably damaging 1.00
R8867:Lama4 UTSW 10 38,923,996 (GRCm39) missense probably damaging 1.00
R8892:Lama4 UTSW 10 38,973,194 (GRCm39) missense probably damaging 1.00
R8913:Lama4 UTSW 10 38,982,039 (GRCm39) missense probably benign 0.10
R9129:Lama4 UTSW 10 38,932,887 (GRCm39) missense probably benign
R9177:Lama4 UTSW 10 38,950,688 (GRCm39) missense probably damaging 0.98
R9187:Lama4 UTSW 10 38,924,124 (GRCm39) critical splice donor site probably null
R9193:Lama4 UTSW 10 38,951,444 (GRCm39) missense probably benign 0.03
R9268:Lama4 UTSW 10 38,950,688 (GRCm39) missense probably damaging 0.98
R9287:Lama4 UTSW 10 38,981,960 (GRCm39) missense probably damaging 1.00
R9295:Lama4 UTSW 10 38,948,747 (GRCm39) missense probably damaging 1.00
R9303:Lama4 UTSW 10 38,973,137 (GRCm39) missense probably damaging 0.99
R9330:Lama4 UTSW 10 38,954,722 (GRCm39) missense probably damaging 0.99
R9430:Lama4 UTSW 10 38,921,802 (GRCm39) missense probably null
R9572:Lama4 UTSW 10 38,959,271 (GRCm39) missense probably damaging 1.00
R9636:Lama4 UTSW 10 38,956,500 (GRCm39) missense possibly damaging 0.67
R9663:Lama4 UTSW 10 38,923,944 (GRCm39) missense probably damaging 0.98
R9777:Lama4 UTSW 10 38,924,101 (GRCm39) missense probably benign 0.00
X0067:Lama4 UTSW 10 38,921,688 (GRCm39) missense probably benign 0.00
Z1177:Lama4 UTSW 10 38,881,421 (GRCm39) missense probably damaging 1.00
Z1177:Lama4 UTSW 10 38,881,420 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGGCCTTACAAATAGCCCAC -3'
(R):5'- CCACTAGTCTACAGCAGGAAGC -3'

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