Incidental Mutation 'R8059:Lama4'
ID 619605
Institutional Source Beutler Lab
Gene Symbol Lama4
Ensembl Gene ENSMUSG00000019846
Gene Name laminin, alpha 4
Synonyms laminin [a]4
MMRRC Submission 067894-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8059 (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 C at 38842057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 36 (I36T)
Ref Sequence ENSEMBL: ENSMUSP00000019992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019992]
AlphaFold P97927
Predicted Effect probably benign
Transcript: ENSMUST00000019992
AA Change: I36T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000019992
Gene: ENSMUSG00000019846
AA Change: I36T

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,323,279 (GRCm39) M3372K probably benign Het
Abcg3 A T 5: 105,100,948 (GRCm39) probably null Het
Adam19 G A 11: 46,027,293 (GRCm39) probably benign Het
Adgrg6 G T 10: 14,344,794 (GRCm39) T53K probably damaging Het
Ccdc141 A C 2: 76,875,095 (GRCm39) L705R probably damaging Het
Cep78 A T 19: 15,958,876 (GRCm39) V156E probably benign Het
Cers2 A G 3: 95,229,982 (GRCm39) D342G probably damaging Het
Chl1 T A 6: 103,651,948 (GRCm39) I272N probably damaging Het
Defb30 A G 14: 63,273,383 (GRCm39) *77Q probably null Het
Dnai3 C G 3: 145,752,428 (GRCm39) R749S possibly damaging Het
Dnm3 A G 1: 161,911,708 (GRCm39) V63A probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Entpd2 G T 2: 25,288,096 (GRCm39) V107L probably damaging Het
Hectd1 T A 12: 51,837,161 (GRCm39) H799L possibly damaging Het
Hira T C 16: 18,730,901 (GRCm39) V200A probably damaging Het
Hspd1 T C 1: 55,120,883 (GRCm39) K269E possibly damaging Het
Kcnj4 T C 15: 79,369,003 (GRCm39) S326G probably benign Het
Kctd19 T G 8: 106,122,983 (GRCm39) I144L probably benign Het
Lrrn3 T C 12: 41,504,216 (GRCm39) T34A probably benign Het
Maco1 A T 4: 134,555,359 (GRCm39) C371* probably null Het
Maml3 A G 3: 51,764,110 (GRCm39) S285P probably damaging Het
Man2b2 A G 5: 36,973,504 (GRCm39) Y492H probably damaging Het
Mapk10 G T 5: 103,114,478 (GRCm39) N303K probably damaging Het
Matn2 C T 15: 34,345,481 (GRCm39) R163C probably damaging Het
Mtmr7 C T 8: 41,034,564 (GRCm39) A253T probably damaging Het
Naca C T 10: 127,876,372 (GRCm39) P468L unknown Het
Nckap1l T C 15: 103,401,714 (GRCm39) S1084P possibly damaging Het
Nek11 T C 9: 105,040,173 (GRCm39) *629W probably null Het
Nfkb1 C T 3: 135,299,613 (GRCm39) A731T possibly damaging Het
Nop2 T C 6: 125,117,775 (GRCm39) V442A probably damaging Het
Oaz2 C T 9: 65,596,425 (GRCm39) P163L probably damaging Het
Or5p57 T C 7: 107,665,223 (GRCm39) T231A probably benign Het
Or6d14 C T 6: 116,533,434 (GRCm39) T16I possibly damaging Het
Or8k23 A G 2: 86,186,306 (GRCm39) V140A probably benign Het
Pabpc2 A T 18: 39,907,875 (GRCm39) N380I probably benign Het
Pax3 T C 1: 78,080,003 (GRCm39) D461G probably benign Het
Pds5b G T 5: 150,731,300 (GRCm39) R1443L unknown Het
Per1 G A 11: 68,997,309 (GRCm39) R828H probably damaging Het
Phlpp2 T A 8: 110,622,189 (GRCm39) S144T probably benign Het
Plod1 A T 4: 148,012,941 (GRCm39) I207N probably damaging Het
Psmc6 A T 14: 45,578,260 (GRCm39) I208F probably damaging Het
Rev3l T C 10: 39,719,491 (GRCm39) S2494P probably damaging Het
Rgs3 T C 4: 62,521,214 (GRCm39) probably benign Het
Rtraf T C 14: 19,872,631 (GRCm39) probably benign Het
Slc17a6 T A 7: 51,294,792 (GRCm39) N166K probably damaging Het
Slc18a2 A T 19: 59,272,572 (GRCm39) T348S probably benign Het
Slc39a8 G T 3: 135,532,347 (GRCm39) A39S probably benign Het
Slc8a3 C T 12: 81,249,032 (GRCm39) G799S probably damaging Het
Sp1 T G 15: 102,316,337 (GRCm39) S46R possibly damaging Het
Spta1 A G 1: 174,045,936 (GRCm39) probably benign Het
Stab1 G A 14: 30,882,198 (GRCm39) P499L probably benign Het
Trav21-dv12 C A 14: 54,114,178 (GRCm39) D99E probably damaging Het
Trpv6 T G 6: 41,601,520 (GRCm39) I467L probably benign Het
Ttc41 A G 10: 86,548,842 (GRCm39) Y12C probably benign Het
Vmn1r233 T C 17: 21,214,698 (GRCm39) N84S probably benign Het
Vrtn T C 12: 84,696,690 (GRCm39) F480S probably benign Het
Zc3h13 C G 14: 75,565,250 (GRCm39) R788G unknown 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
R7211:Lama4 UTSW 10 38,881,491 (GRCm39) missense probably damaging 0.98
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
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'- GGCTCCTGGATCTAAATACCG -3'
(R):5'- AAAGAGGATTGTGGCCCAGC -3'

Sequencing Primer
(F):5'- ATCACTGCATCTCTTAGGGGGTAC -3'
(R):5'- GCCCATAGACACGGTAGAC -3'
Posted On 2020-01-23