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
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 Homozygous null mice display embryonic lethality before somite formation with impaired formation of Reichert's membrane.
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 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 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 0.00
IGL01522:Lama1 APN 17 67752774 unclassified 0.00
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 0.00
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 unknown
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 unknown
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
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