Incidental Mutation 'R9187:Lama4'
ID 697455
Institutional Source Beutler Lab
Gene Symbol Lama4
Ensembl Gene ENSMUSG00000019846
Gene Name laminin, alpha 4
Synonyms laminin [a]4
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9187 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 38841511-38986184 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 38924124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000019992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019992]
AlphaFold P97927
Predicted Effect probably null
Transcript: ENSMUST00000019992
SMART Domains Protein: ENSMUSP00000019992
Gene: ENSMUSG00000019846

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: 99.8%
  • 20x: 99.5%
Validation Efficiency 97% (70/72)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,200,961 (GRCm39) probably null Het
Abcb1a T A 5: 8,765,016 (GRCm39) C669S probably benign Het
Abcc3 A G 11: 94,255,913 (GRCm39) L524P probably damaging Het
Akap5 A T 12: 76,376,745 (GRCm39) K726* probably null Het
Aldh16a1 T C 7: 44,791,441 (GRCm39) E778G probably damaging Het
Ankle2 G A 5: 110,400,610 (GRCm39) V649M possibly damaging Het
Apon A G 10: 128,090,832 (GRCm39) N170S probably benign Het
Baiap2l1 T C 5: 144,217,764 (GRCm39) Y274C probably benign Het
Bub1 A T 2: 127,656,856 (GRCm39) N425K possibly damaging Het
Camsap1 A G 2: 25,820,028 (GRCm39) C1487R probably damaging Het
Cd4 A C 6: 124,844,651 (GRCm39) V378G probably damaging Het
Cenpa C A 5: 30,824,380 (GRCm39) P3Q unknown Het
Cfap44 T C 16: 44,225,144 (GRCm39) probably benign Het
Cfap65 T A 1: 74,956,517 (GRCm39) M1021L probably benign Het
Ddx39a G T 8: 84,449,113 (GRCm39) M300I probably benign Het
Dgkh T C 14: 78,832,601 (GRCm39) R819G probably damaging Het
Dlc1 A T 8: 37,405,786 (GRCm39) M1K probably null Het
Dnah9 A G 11: 65,895,972 (GRCm39) W2468R probably benign Het
Ebag9 A T 15: 44,503,706 (GRCm39) K177I probably damaging Het
Ehbp1 T C 11: 22,101,184 (GRCm39) I249V probably damaging Het
Fam171b T C 2: 83,710,365 (GRCm39) V679A probably damaging Het
Gabbr2 G A 4: 46,674,533 (GRCm39) T818I probably damaging Het
Gcn1 T C 5: 115,752,177 (GRCm39) S2098P probably damaging Het
Glb1 T C 9: 114,302,991 (GRCm39) I609T probably damaging Het
Gm5916 T G 9: 36,032,020 (GRCm39) H88P probably benign Het
Gon4l T C 3: 88,786,618 (GRCm39) S586P probably benign Het
Gzmg T A 14: 56,394,714 (GRCm39) T185S probably benign Het
Hipk3 T A 2: 104,276,936 (GRCm39) D381V probably damaging Het
Hnrnpul2 C A 19: 8,808,319 (GRCm39) N681K probably benign Het
Hpdl C A 4: 116,678,372 (GRCm39) G30C probably damaging Het
Iws1 G A 18: 32,213,213 (GRCm39) E214K possibly damaging Het
Krt82 C A 15: 101,450,260 (GRCm39) V479L probably benign Het
Lamc1 C A 1: 153,097,434 (GRCm39) E1537* probably null Het
Mab21l3 G A 3: 101,730,594 (GRCm39) T215M probably benign Het
Magi3 C A 3: 103,923,073 (GRCm39) V1215F possibly damaging Het
Mical2 T A 7: 111,902,797 (GRCm39) C89* probably null Het
Mitf T A 6: 97,994,835 (GRCm39) V427D probably benign Het
Muc4 T C 16: 32,589,102 (GRCm39) V753A Het
Myo16 G A 8: 10,492,233 (GRCm39) R725H unknown Het
Ncapg2 T A 12: 116,402,287 (GRCm39) D706E probably damaging Het
Ndst1 T C 18: 60,824,268 (GRCm39) D803G probably benign Het
Neb A T 2: 52,096,115 (GRCm39) V5065D probably damaging Het
Npm3 G A 19: 45,737,941 (GRCm39) R19* probably null Het
Ntrk3 A C 7: 77,896,966 (GRCm39) N690K possibly damaging Het
Or7g32 T C 9: 19,389,166 (GRCm39) I127V probably benign Het
Or7g35 T C 9: 19,495,950 (GRCm39) I39T probably benign Het
Or8d4 C A 9: 40,038,886 (GRCm39) V124L possibly damaging Het
P3h2 G A 16: 25,924,186 (GRCm39) A83V probably benign Het
Pdia2 A G 17: 26,415,910 (GRCm39) S362P probably damaging Het
Pmp22 C T 11: 63,025,268 (GRCm39) H34Y probably benign Het
Pmp22 T C 11: 63,025,317 (GRCm39) V50A probably benign Het
Ppfia4 T C 1: 134,255,006 (GRCm39) D283G probably damaging Het
Pramel58 T C 5: 94,831,755 (GRCm39) V254A probably benign Het
Prss55 T A 14: 64,314,531 (GRCm39) Q213L probably null Het
Rgsl1 C T 1: 153,669,613 (GRCm39) E258K possibly damaging Het
Ripor2 T C 13: 24,897,632 (GRCm39) F777L probably benign Het
Rsf1 GGC GGCGGCGGCCGC 7: 97,229,140 (GRCm39) probably benign Het
Sgce G A 6: 4,711,362 (GRCm39) R173C probably benign Het
Sncaip T G 18: 53,040,011 (GRCm39) M735R probably benign Het
Snrpd2 T A 7: 18,886,505 (GRCm39) I96N probably damaging Het
Spryd3 T G 15: 102,039,110 (GRCm39) D121A probably damaging Het
Srsf3-ps A G 11: 98,516,187 (GRCm39) V62A possibly damaging Het
Sspo T C 6: 48,472,223 (GRCm39) C149R probably damaging Het
Tbc1d10b A T 7: 126,807,105 (GRCm39) M144K probably benign Het
Tbc1d31 T A 15: 57,779,485 (GRCm39) I66N probably damaging Het
Tssk1 A G 16: 17,712,457 (GRCm39) T81A possibly damaging Het
Ttc28 A G 5: 111,249,902 (GRCm39) Y284C probably damaging Het
Ttn T C 2: 76,573,755 (GRCm39) T25713A probably benign Het
Vmn2r125 T C 4: 156,703,554 (GRCm39) W311R probably damaging Het
Vmn2r80 A T 10: 79,030,438 (GRCm39) T755S probably benign Het
Vmn2r98 T C 17: 19,301,481 (GRCm39) C828R probably damaging Het
Wwox T C 8: 115,438,978 (GRCm39) F348S probably damaging Het
Zeb2 T A 2: 45,000,040 (GRCm39) R65W possibly damaging Het
Zfp712 T A 13: 67,188,637 (GRCm39) H630L probably damaging Het
Zfp764 G T 7: 127,004,608 (GRCm39) H174Q 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
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
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
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'- TGAGCCAAGCTGAGAACTG -3'
(R):5'- GTCTGGAGAAAGCAGTATAGTCTC -3'

Sequencing Primer
(F):5'- TGAGAACTGGCAGCGGCTG -3'
(R):5'- AGTCTCATGTAGGAGTATATGCAC -3'
Posted On 2022-02-07