Incidental Mutation 'R1499:Lama4'
ID 168709
Institutional Source Beutler Lab
Gene Symbol Lama4
Ensembl Gene ENSMUSG00000019846
Gene Name laminin, alpha 4
Synonyms laminin [a]4
MMRRC Submission 039550-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1499 (G1)
Quality Score 191
Status Validated
Chromosome 10
Chromosomal Location 38841511-38986184 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38964876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1414 (S1414P)
Ref Sequence ENSEMBL: ENSMUSP00000019992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019992]
AlphaFold P97927
Predicted Effect possibly damaging
Transcript: ENSMUST00000019992
AA Change: S1414P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019992
Gene: ENSMUSG00000019846
AA Change: S1414P

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.4%
Validation Efficiency 99% (83/84)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,030,458 (GRCm39) Y763F probably benign Het
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Actl11 A G 9: 107,808,682 (GRCm39) T1002A probably damaging Het
Ampd1 T A 3: 102,998,980 (GRCm39) N378K probably damaging Het
Arhgap42 A G 9: 9,033,587 (GRCm39) probably benign Het
Arhgap6 C A X: 167,579,499 (GRCm39) P95T possibly damaging Het
Atg14 T C 14: 47,798,102 (GRCm39) N87S probably benign Het
Atp9b C T 18: 80,805,353 (GRCm39) C735Y probably damaging Het
Atp9b T A 18: 80,822,122 (GRCm39) T110S probably benign Het
Birc6 T G 17: 74,919,314 (GRCm39) L221R probably damaging Het
Ces1c A G 8: 93,854,233 (GRCm39) F101L probably benign Het
Cfap91 A G 16: 38,141,762 (GRCm39) V390A probably damaging Het
Chsy1 T C 7: 65,821,750 (GRCm39) Y662H probably damaging Het
Cldn12 A T 5: 5,557,900 (GRCm39) F176I probably benign Het
Col5a2 A G 1: 45,450,626 (GRCm39) S374P probably benign Het
Col6a2 A T 10: 76,439,544 (GRCm39) V740E probably damaging Het
Cpne3 A T 4: 19,526,336 (GRCm39) I401K probably damaging Het
Cspp1 T A 1: 10,159,191 (GRCm39) probably null Het
Ddn G A 15: 98,704,647 (GRCm39) T215I possibly damaging Het
Dync1i1 T C 6: 5,769,799 (GRCm39) probably benign Het
Dync2li1 T C 17: 84,954,667 (GRCm39) probably benign Het
Eif2a T A 3: 58,445,005 (GRCm39) L50* probably null Het
Elavl3 G A 9: 21,929,875 (GRCm39) A343V probably damaging Het
Fastkd1 T C 2: 69,538,982 (GRCm39) probably null Het
Fgf8 C A 19: 45,730,786 (GRCm39) V80F possibly damaging Het
Fras1 A T 5: 96,891,046 (GRCm39) E2858D probably benign Het
Fshr A T 17: 89,293,529 (GRCm39) L383Q probably damaging Het
Glb1 A G 9: 114,246,171 (GRCm39) K74R probably benign Het
Gmeb2 T G 2: 180,897,019 (GRCm39) M290L probably benign Het
Gnptg A G 17: 25,454,828 (GRCm39) probably null Het
Grik2 A C 10: 49,008,871 (GRCm39) S739A probably damaging Het
Grk2 T A 19: 4,337,222 (GRCm39) Q659L probably benign Het
Hdhd5 A G 6: 120,491,473 (GRCm39) V210A probably damaging Het
Hyal1 C T 9: 107,455,091 (GRCm39) L134F probably damaging Het
Itgb2 A T 10: 77,381,987 (GRCm39) K18N possibly damaging Het
Jam3 A T 9: 27,017,701 (GRCm39) I29K possibly damaging Het
Kcnh3 C A 15: 99,137,796 (GRCm39) D830E probably benign Het
Kcnmb4 T C 10: 116,309,203 (GRCm39) D75G possibly damaging Het
Kdm4b A G 17: 56,707,025 (GRCm39) Y981C probably damaging Het
Klk1b26 C A 7: 43,665,810 (GRCm39) D207E probably benign Het
Kmt2a G T 9: 44,759,563 (GRCm39) T762N probably benign Het
Kmt2d A G 15: 98,742,819 (GRCm39) probably benign Het
Lce1f C G 3: 92,626,276 (GRCm39) C127S unknown Het
Map7d1 A G 4: 126,128,558 (GRCm39) probably null Het
Ninl T C 2: 150,822,096 (GRCm39) D2G possibly damaging Het
Or2w1b T A 13: 21,300,303 (GRCm39) M147K probably benign Het
Or5k3 A G 16: 58,969,287 (GRCm39) T25A probably benign Het
Or5m11b C T 2: 85,806,372 (GRCm39) P262S possibly damaging Het
Or6n1 T A 1: 173,916,813 (GRCm39) L69* probably null Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pax8 A G 2: 24,319,608 (GRCm39) Y381H possibly damaging Het
Pde7a T C 3: 19,314,408 (GRCm39) I63V possibly damaging Het
Pgm3 A T 9: 86,452,340 (GRCm39) F40Y probably benign Het
Phrf1 G T 7: 140,836,564 (GRCm39) D78Y probably damaging Het
Plekhg1 C T 10: 3,890,538 (GRCm39) probably benign Het
Prss59 A T 6: 40,898,652 (GRCm39) S199T probably benign Het
Pum1 T C 4: 130,446,567 (GRCm39) S209P probably damaging Het
Qtrt2 A T 16: 43,689,337 (GRCm39) F220L probably benign Het
Rgs9 A G 11: 109,159,747 (GRCm39) probably null Het
Rin3 A G 12: 102,335,018 (GRCm39) T230A unknown Het
Ros1 A T 10: 51,974,773 (GRCm39) V1604E possibly damaging Het
Rpp14 A G 14: 8,090,528 (GRCm38) M151V probably benign Het
Sacs T A 14: 61,451,153 (GRCm39) F4400I possibly damaging Het
Scamp1 C T 13: 94,361,437 (GRCm39) V148I probably benign Het
Slc13a5 A G 11: 72,141,557 (GRCm39) C428R probably damaging Het
Slc43a2 T G 11: 75,453,733 (GRCm39) probably null Het
Smarcc2 T A 10: 128,299,741 (GRCm39) N135K probably damaging Het
Snx15 G C 19: 6,172,094 (GRCm39) S116R probably damaging Het
Stag1 A G 9: 100,737,885 (GRCm39) E414G possibly damaging Het
Stag1 A T 9: 100,769,426 (GRCm39) probably benign Het
Tmem106a T A 11: 101,481,263 (GRCm39) L257Q possibly damaging Het
Tnc C T 4: 63,882,991 (GRCm39) D1968N probably benign Het
Trim42 A G 9: 97,248,138 (GRCm39) L186P possibly damaging Het
Tshb T A 3: 102,685,624 (GRCm39) probably benign Het
Ttn T A 2: 76,584,484 (GRCm39) D13881V probably damaging Het
Uqcrc2 T C 7: 120,239,506 (GRCm39) V56A probably benign Het
Uty G A Y: 1,197,228 (GRCm39) T113I probably damaging Het
Vps13c A G 9: 67,864,787 (GRCm39) E3032G probably benign Het
Wfdc9 T G 2: 164,493,729 (GRCm39) probably benign Het
Zc3h7a G A 16: 10,980,520 (GRCm39) T31I probably damaging Het
Zfp462 T C 4: 55,060,046 (GRCm39) S1191P probably 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
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
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'- GAAGTTCTACTTTGGTGGCTCACCC -3'
(R):5'- ACACGTCCACACGTTAAGAGCAGG -3'

Sequencing Primer
(F):5'- CCTGATTGTCAGTGGTCAATACAG -3'
(R):5'- CGTTAAGAGCAGGGCTGTC -3'
Posted On 2014-04-13