Incidental Mutation 'IGL03064:Lama1'
ID409609
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lama1
Ensembl Gene ENSMUSG00000032796
Gene Namelaminin, alpha 1
SynonymsLama
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03064
Quality Score
Status
Chromosome17
Chromosomal Location67697265-67822645 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 67779104 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 1446 (Y1446F)
Ref Sequence ENSEMBL: ENSMUSP00000043957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035471]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035471
AA Change: Y1446F

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000043957
Gene: ENSMUSG00000032796
AA Change: Y1446F

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
LamNT 23 275 1.2e-131 SMART
EGF_Lam 277 331 1e-5 SMART
EGF_Lam 334 401 6.6e-6 SMART
EGF_Lam 404 458 9.11e-9 SMART
EGF_Lam 461 507 8.12e-6 SMART
LamB 570 702 2.09e-57 SMART
EGF_like 715 746 3.36e0 SMART
EGF_Lam 749 795 7.01e-10 SMART
EGF_Lam 798 853 3.59e-7 SMART
EGF_Lam 856 906 1.53e-10 SMART
EGF_Lam 909 955 1.13e-13 SMART
EGF_Lam 958 1002 1.36e-7 SMART
EGF_Lam 1005 1048 7.29e-8 SMART
EGF_like 1034 1082 4.83e1 SMART
EGF_Lam 1051 1094 1.67e-7 SMART
EGF_Lam 1097 1154 1.32e-5 SMART
LamB 1220 1352 8.7e-46 SMART
Pfam:Laminin_EGF 1367 1397 1.7e-6 PFAM
EGF_Lam 1410 1456 7.12e-11 SMART
EGF_Lam 1459 1513 3.25e-5 SMART
EGF_like 1497 1547 6.41e1 SMART
EGF_Lam 1516 1560 1.71e-13 SMART
Pfam:Laminin_I 1574 1838 1.7e-91 PFAM
low complexity region 2012 2031 N/A INTRINSIC
low complexity region 2087 2098 N/A INTRINSIC
LamG 2145 2287 3.66e-30 SMART
LamG 2332 2473 5.98e-35 SMART
LamG 2513 2661 1.11e-29 SMART
low complexity region 2695 2708 N/A INTRINSIC
LamG 2743 2877 9.72e-35 SMART
LamG 2920 3056 4.63e-41 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mice display embryonic lethality before somite formation with impaired formation of Reichert's membrane. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,575,641 T210A probably damaging Het
Adgb T A 10: 10,400,572 T351S probably benign Het
Akap9 A G 5: 3,968,755 H1112R probably damaging Het
Angptl6 A T 9: 20,875,643 Y261* probably null Het
Arhgef10l A C 4: 140,579,279 F395V probably damaging Het
Bub1 T C 2: 127,817,453 N328S probably benign Het
Cacna1s A G 1: 136,111,993 N1452D probably damaging Het
Cacna2d2 C A 9: 107,509,275 F200L probably damaging Het
Calca G A 7: 114,633,684 S110L probably benign Het
Ccdc120 G A X: 7,735,362 P263S probably benign Het
Dgki C A 6: 37,149,664 probably benign Het
Ear1 G T 14: 43,819,045 S122* probably null Het
F5 A T 1: 164,195,594 T1574S probably benign Het
Fam227b T C 2: 126,126,842 probably null Het
Gm20521 T A 14: 54,897,223 S301T possibly damaging Het
Hsd17b7 A T 1: 169,959,718 I239N probably benign Het
Itih1 C A 14: 30,941,557 E167D probably benign Het
Lama3 C T 18: 12,439,349 T537M possibly damaging Het
Lars G T 18: 42,221,571 Y770* probably null Het
Lrp2 A T 2: 69,483,133 V2418E probably damaging Het
Maip1 A G 1: 57,407,200 E143G probably damaging Het
Mast4 G T 13: 102,760,964 S907* probably null Het
Mctp1 C T 13: 76,801,513 Q555* probably null Het
Med14 A T X: 12,747,503 D291E probably benign Het
Mgat2 T A 12: 69,185,003 V117D probably damaging Het
Mllt1 A T 17: 56,900,094 M250K probably benign Het
Myt1 A C 2: 181,797,801 Y372S probably benign Het
Naa16 T A 14: 79,339,628 Q735H probably damaging Het
Ncf4 A G 15: 78,250,902 Y53C probably damaging Het
Nlrp4a A T 7: 26,449,509 K180N probably benign Het
Nova1 A G 12: 46,700,078 V472A probably damaging Het
Nup153 T C 13: 46,693,839 T705A probably benign Het
Odf2 T A 2: 29,901,079 N79K probably benign Het
Olfr1303 A G 2: 111,814,423 I101T possibly damaging Het
Pard3b G A 1: 62,198,771 probably benign Het
Pde8b G A 13: 95,046,398 T388I probably damaging Het
Pet2 A G X: 89,405,251 V424A possibly damaging Het
Phactr2 A G 10: 13,388,713 noncoding transcript Het
Phf12 T C 11: 77,983,360 S17P probably damaging Het
Psmg2 T A 18: 67,646,032 L90* probably null Het
Ryr2 T C 13: 11,643,902 probably null Het
Sec23b T C 2: 144,582,032 F534L probably benign Het
Sin3b A G 8: 72,757,058 noncoding transcript Het
Slc30a5 A T 13: 100,811,310 L520Q probably damaging Het
Slc35g3 T C 11: 69,761,069 H52R possibly damaging Het
Slc6a3 G T 13: 73,571,466 S538I probably damaging Het
Socs2 G T 10: 95,412,851 C133* probably null Het
Srebf2 G A 15: 82,192,222 R731H probably benign Het
Tlr11 C A 14: 50,361,100 P181Q probably damaging Het
Tlr7 T A X: 167,306,207 Q761L possibly damaging Het
Tmem120b T A 5: 123,102,273 Y90N possibly damaging Het
Tpcn1 T C 5: 120,537,566 I778V possibly damaging Het
Ttll8 T C 15: 88,919,594 T385A probably benign Het
Vmn1r223 G A 13: 23,249,983 R249H probably damaging Het
Vmn2r53 A T 7: 12,601,010 I241N possibly damaging Het
Wdfy3 T C 5: 101,935,997 R808G probably damaging Het
Zfyve26 T A 12: 79,261,791 S1660C probably damaging Het
Other mutations in Lama1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Lama1 APN 17 67815928 missense probably benign
IGL00336:Lama1 APN 17 67813948 missense probably benign 0.00
IGL01066:Lama1 APN 17 67743326 missense probably damaging 0.99
IGL01140:Lama1 APN 17 67802933 missense probably benign 0.07
IGL01291:Lama1 APN 17 67738870 missense probably damaging 1.00
IGL01296:Lama1 APN 17 67745051 missense probably damaging 1.00
IGL01317:Lama1 APN 17 67818701 missense probably damaging 1.00
IGL01490:Lama1 APN 17 67750584 missense probably benign 0.04
IGL01506:Lama1 APN 17 67785070 missense probably benign 0.00
IGL01508:Lama1 APN 17 67809361 unclassified probably benign
IGL01522:Lama1 APN 17 67752774 unclassified probably benign
IGL01530:Lama1 APN 17 67796790 missense probably benign
IGL01541:Lama1 APN 17 67785070 missense probably benign 0.00
IGL01677:Lama1 APN 17 67779148 missense probably damaging 1.00
IGL01886:Lama1 APN 17 67807797 missense possibly damaging 0.61
IGL01994:Lama1 APN 17 67752439 missense probably benign 0.05
IGL02017:Lama1 APN 17 67764725 missense probably benign 0.21
IGL02021:Lama1 APN 17 67821626 missense probably damaging 1.00
IGL02026:Lama1 APN 17 67809292 missense possibly damaging 0.95
IGL02044:Lama1 APN 17 67811490 missense probably benign 0.00
IGL02120:Lama1 APN 17 67716789 missense probably damaging 1.00
IGL02425:Lama1 APN 17 67811485 missense possibly damaging 0.67
IGL02549:Lama1 APN 17 67790835 missense probably damaging 0.98
IGL02642:Lama1 APN 17 67812366 missense probably benign 0.00
IGL02795:Lama1 APN 17 67738894 unclassified probably null
IGL02798:Lama1 APN 17 67795191 unclassified probably benign
IGL02863:Lama1 APN 17 67804536 missense probably damaging 1.00
IGL02870:Lama1 APN 17 67804536 missense probably damaging 1.00
IGL02876:Lama1 APN 17 67750692 unclassified probably null
IGL02885:Lama1 APN 17 67804536 missense probably damaging 1.00
IGL02891:Lama1 APN 17 67804536 missense probably damaging 1.00
IGL02978:Lama1 APN 17 67786081 nonsense probably null
IGL03076:Lama1 APN 17 67716799 missense probably damaging 1.00
IGL03110:Lama1 APN 17 67798986 missense possibly damaging 0.76
IGL03143:Lama1 APN 17 67804536 missense probably damaging 1.00
IGL03159:Lama1 APN 17 67804536 missense probably damaging 1.00
IGL03268:Lama1 APN 17 67804536 missense probably damaging 1.00
ANU05:Lama1 UTSW 17 67738870 missense probably damaging 1.00
R0047:Lama1 UTSW 17 67795186 splice site probably benign
R0047:Lama1 UTSW 17 67795186 splice acceptor site probably benign
R0050:Lama1 UTSW 17 67782056 missense probably benign 0.37
R0096:Lama1 UTSW 17 67805413 missense probably benign 0.43
R0096:Lama1 UTSW 17 67805413 missense probably benign 0.43
R0111:Lama1 UTSW 17 67737498 missense probably damaging 1.00
R0116:Lama1 UTSW 17 67776923 missense possibly damaging 0.69
R0121:Lama1 UTSW 17 67798513 splice site probably benign
R0278:Lama1 UTSW 17 67810183 missense probably null 0.99
R0281:Lama1 UTSW 17 67817569 missense probably damaging 1.00
R0312:Lama1 UTSW 17 67775851 missense possibly damaging 0.81
R0419:Lama1 UTSW 17 67791610 critical splice donor site probably null
R0512:Lama1 UTSW 17 67779134 missense probably damaging 1.00
R0514:Lama1 UTSW 17 67764698 missense possibly damaging 0.88
R0562:Lama1 UTSW 17 67815959 missense probably damaging 1.00
R0632:Lama1 UTSW 17 67752368 splice site probably benign
R0645:Lama1 UTSW 17 67773712 missense probably benign
R0712:Lama1 UTSW 17 67779042 splice site probably null
R0763:Lama1 UTSW 17 67772818 missense possibly damaging 0.93
R0941:Lama1 UTSW 17 67775865 missense possibly damaging 0.92
R1025:Lama1 UTSW 17 67752898 missense probably benign 0.01
R1084:Lama1 UTSW 17 67804469 missense probably benign 0.06
R1103:Lama1 UTSW 17 67790947 missense probably damaging 1.00
R1420:Lama1 UTSW 17 67790947 missense probably damaging 1.00
R1430:Lama1 UTSW 17 67782155 missense probably damaging 1.00
R1569:Lama1 UTSW 17 67780618 splice site probably null
R1575:Lama1 UTSW 17 67810409 missense probably damaging 1.00
R1613:Lama1 UTSW 17 67807923 missense probably damaging 0.99
R1620:Lama1 UTSW 17 67767033 missense possibly damaging 0.77
R1629:Lama1 UTSW 17 67805428 missense probably benign 0.03
R1645:Lama1 UTSW 17 67737682 missense probably damaging 1.00
R1652:Lama1 UTSW 17 67807846 missense probably damaging 1.00
R1674:Lama1 UTSW 17 67791244 missense probably benign 0.01
R1678:Lama1 UTSW 17 67810155 missense possibly damaging 0.94
R1710:Lama1 UTSW 17 67753791 missense probably benign 0.24
R1712:Lama1 UTSW 17 67717186 missense probably damaging 1.00
R1737:Lama1 UTSW 17 67802921 missense probably benign 0.21
R1757:Lama1 UTSW 17 67763836 missense possibly damaging 0.86
R1757:Lama1 UTSW 17 67697383 missense unknown
R1813:Lama1 UTSW 17 67791223 missense probably benign
R1896:Lama1 UTSW 17 67791223 missense probably benign
R1945:Lama1 UTSW 17 67745853 missense probably damaging 1.00
R2086:Lama1 UTSW 17 67817623 missense probably damaging 1.00
R2149:Lama1 UTSW 17 67773865 missense probably damaging 1.00
R2178:Lama1 UTSW 17 67769515 missense probably damaging 0.97
R2183:Lama1 UTSW 17 67791009 missense probably damaging 0.99
R2197:Lama1 UTSW 17 67752941 missense possibly damaging 0.91
R2213:Lama1 UTSW 17 67777034 nonsense probably null
R2260:Lama1 UTSW 17 67737507 missense probably damaging 1.00
R2356:Lama1 UTSW 17 67810114 missense probably damaging 1.00
R2420:Lama1 UTSW 17 67750553 missense probably benign
R2421:Lama1 UTSW 17 67750553 missense probably benign
R2422:Lama1 UTSW 17 67750553 missense probably benign
R2424:Lama1 UTSW 17 67798665 missense probably damaging 0.99
R2442:Lama1 UTSW 17 67768317 missense probably damaging 1.00
R3147:Lama1 UTSW 17 67737658 missense probably damaging 1.00
R3414:Lama1 UTSW 17 67737603 missense probably damaging 1.00
R3683:Lama1 UTSW 17 67768333 missense probably damaging 0.99
R3820:Lama1 UTSW 17 67779046 splice site probably null
R3821:Lama1 UTSW 17 67779046 splice site probably null
R3822:Lama1 UTSW 17 67779046 splice site probably null
R4012:Lama1 UTSW 17 67812373 nonsense probably null
R4113:Lama1 UTSW 17 67764703 missense possibly damaging 0.89
R4133:Lama1 UTSW 17 67750655 missense probably damaging 1.00
R4133:Lama1 UTSW 17 67812486 missense probably damaging 0.99
R4259:Lama1 UTSW 17 67752418 missense probably damaging 1.00
R4278:Lama1 UTSW 17 67791517 missense probably null 0.07
R4321:Lama1 UTSW 17 67771083 missense probably benign 0.11
R4374:Lama1 UTSW 17 67804518 missense probably benign 0.01
R4386:Lama1 UTSW 17 67773712 missense probably benign
R4463:Lama1 UTSW 17 67761700 missense probably damaging 1.00
R4629:Lama1 UTSW 17 67805360 critical splice acceptor site probably null
R4630:Lama1 UTSW 17 67794300 missense probably benign 0.00
R4633:Lama1 UTSW 17 67798584 missense probably damaging 0.98
R4668:Lama1 UTSW 17 67752434 missense probably benign 0.43
R4684:Lama1 UTSW 17 67773778 missense possibly damaging 0.89
R4745:Lama1 UTSW 17 67738780 missense probably damaging 1.00
R4786:Lama1 UTSW 17 67773859 missense probably damaging 0.98
R4797:Lama1 UTSW 17 67716775 missense probably damaging 0.98
R4803:Lama1 UTSW 17 67809271 missense probably damaging 1.00
R4925:Lama1 UTSW 17 67794314 missense probably benign 0.00
R4939:Lama1 UTSW 17 67737475 missense probably damaging 1.00
R4952:Lama1 UTSW 17 67767566 critical splice donor site probably null
R4975:Lama1 UTSW 17 67738834 missense probably damaging 1.00
R4977:Lama1 UTSW 17 67737682 missense probably damaging 1.00
R5039:Lama1 UTSW 17 67745893 missense probably damaging 1.00
R5047:Lama1 UTSW 17 67743281 nonsense probably null
R5195:Lama1 UTSW 17 67764800 missense possibly damaging 0.81
R5230:Lama1 UTSW 17 67745083 nonsense probably null
R5236:Lama1 UTSW 17 67804492 missense probably damaging 0.99
R5254:Lama1 UTSW 17 67756716 missense probably benign 0.12
R5345:Lama1 UTSW 17 67817563 missense probably benign
R5438:Lama1 UTSW 17 67800774 missense possibly damaging 0.95
R5521:Lama1 UTSW 17 67780894 nonsense probably null
R5568:Lama1 UTSW 17 67768298 critical splice acceptor site probably null
R5645:Lama1 UTSW 17 67802948 missense probably damaging 1.00
R5665:Lama1 UTSW 17 67770987 missense probably damaging 1.00
R5727:Lama1 UTSW 17 67815224 missense probably damaging 1.00
R5757:Lama1 UTSW 17 67738787 missense possibly damaging 0.86
R5795:Lama1 UTSW 17 67796727 missense probably benign 0.00
R5857:Lama1 UTSW 17 67807843 missense probably damaging 1.00
R5894:Lama1 UTSW 17 67779047 critical splice acceptor site probably null
R5974:Lama1 UTSW 17 67773727 missense probably damaging 1.00
R6032:Lama1 UTSW 17 67750643 missense probably benign 0.00
R6032:Lama1 UTSW 17 67750643 missense probably benign 0.00
R6120:Lama1 UTSW 17 67780617 critical splice donor site probably null
R6219:Lama1 UTSW 17 67790856 missense probably benign 0.10
R6224:Lama1 UTSW 17 67802987 missense possibly damaging 0.61
R6249:Lama1 UTSW 17 67798604 missense probably benign 0.00
R6265:Lama1 UTSW 17 67750655 missense probably damaging 1.00
R6276:Lama1 UTSW 17 67784088 splice site probably null
R6284:Lama1 UTSW 17 67810096 missense probably damaging 1.00
R6337:Lama1 UTSW 17 67786019 missense possibly damaging 0.93
R6414:Lama1 UTSW 17 67746910 critical splice donor site probably null
R6631:Lama1 UTSW 17 67774482 missense probably damaging 1.00
V8831:Lama1 UTSW 17 67752883 missense probably benign
X0024:Lama1 UTSW 17 67738888 missense probably damaging 1.00
X0028:Lama1 UTSW 17 67767422 missense probably benign 0.04
X0028:Lama1 UTSW 17 67794310 missense probably benign 0.03
X0066:Lama1 UTSW 17 67811566 missense probably damaging 1.00
Z1088:Lama1 UTSW 17 67752883 missense probably benign
Z1088:Lama1 UTSW 17 67771082 missense probably damaging 0.99
Z1088:Lama1 UTSW 17 67810171 missense probably damaging 1.00
Posted OnAug 02, 2016