Incidental Mutation 'R0372:Lmo7'
ID 30561
Institutional Source Beutler Lab
Gene Symbol Lmo7
Ensembl Gene ENSMUSG00000033060
Gene Name LIM domain only 7
Synonyms FBXO20, LOC380928
MMRRC Submission 038578-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R0372 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 101967393-102172146 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 102155489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000100337] [ENSMUST00000159258] [ENSMUST00000159314] [ENSMUST00000159597]
AlphaFold E9PYF4
Predicted Effect probably benign
Transcript: ENSMUST00000100337
SMART Domains Protein: ENSMUSP00000097910
Gene: ENSMUSG00000033060

DomainStartEndE-ValueType
CH 14 124 2.57e-13 SMART
low complexity region 200 211 N/A INTRINSIC
Pfam:DUF4757 242 348 2.2e-14 PFAM
low complexity region 448 462 N/A INTRINSIC
Pfam:DUF4757 568 735 1.8e-46 PFAM
low complexity region 861 879 N/A INTRINSIC
low complexity region 979 991 N/A INTRINSIC
low complexity region 1003 1015 N/A INTRINSIC
PDZ 1047 1119 1.05e-8 SMART
coiled coil region 1222 1275 N/A INTRINSIC
coiled coil region 1319 1411 N/A INTRINSIC
low complexity region 1585 1596 N/A INTRINSIC
low complexity region 1599 1617 N/A INTRINSIC
LIM 1629 1687 6.54e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159154
Predicted Effect probably benign
Transcript: ENSMUST00000159258
SMART Domains Protein: ENSMUSP00000125465
Gene: ENSMUSG00000033060

DomainStartEndE-ValueType
low complexity region 215 229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159314
SMART Domains Protein: ENSMUSP00000124349
Gene: ENSMUSG00000033060

DomainStartEndE-ValueType
low complexity region 215 229 N/A INTRINSIC
coiled coil region 435 492 N/A INTRINSIC
low complexity region 628 646 N/A INTRINSIC
low complexity region 746 758 N/A INTRINSIC
low complexity region 770 782 N/A INTRINSIC
PDZ 814 886 1.05e-8 SMART
coiled coil region 989 1042 N/A INTRINSIC
coiled coil region 1086 1178 N/A INTRINSIC
low complexity region 1352 1363 N/A INTRINSIC
low complexity region 1366 1384 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159597
SMART Domains Protein: ENSMUSP00000123706
Gene: ENSMUSG00000033060

DomainStartEndE-ValueType
low complexity region 78 89 N/A INTRINSIC
internal_repeat_1 111 141 6.96e-5 PROSPERO
internal_repeat_1 218 248 6.96e-5 PROSPERO
low complexity region 326 340 N/A INTRINSIC
coiled coil region 546 603 N/A INTRINSIC
low complexity region 739 757 N/A INTRINSIC
low complexity region 857 869 N/A INTRINSIC
low complexity region 881 893 N/A INTRINSIC
PDZ 925 997 1.05e-8 SMART
coiled coil region 1127 1180 N/A INTRINSIC
coiled coil region 1224 1316 N/A INTRINSIC
low complexity region 1490 1501 N/A INTRINSIC
low complexity region 1504 1522 N/A INTRINSIC
LIM 1534 1592 6.54e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159806
SMART Domains Protein: ENSMUSP00000124300
Gene: ENSMUSG00000033060

DomainStartEndE-ValueType
low complexity region 34 45 N/A INTRINSIC
Pfam:DUF4757 76 225 4.5e-53 PFAM
low complexity region 351 369 N/A INTRINSIC
low complexity region 469 481 N/A INTRINSIC
low complexity region 493 505 N/A INTRINSIC
PDZ 537 609 1.05e-8 SMART
internal_repeat_1 620 691 9.31e-5 PROSPERO
coiled coil region 711 764 N/A INTRINSIC
coiled coil region 808 900 N/A INTRINSIC
internal_repeat_1 921 976 9.31e-5 PROSPERO
low complexity region 1075 1086 N/A INTRINSIC
low complexity region 1089 1107 N/A INTRINSIC
LIM 1119 1177 6.54e-10 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 88.6%
Validation Efficiency 97% (70/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a calponin homology (CH) domain, a PDZ domain, and a LIM domain, and may be involved in protein-protein interactions. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, however, the full-length nature of some variants is not known. [provided by RefSeq, Jan 2009]
PHENOTYPE: Targeted mutations in this gene result in postnatal lethality, growth defects, skeletal muscle abnormalities and retinal defects reflective of retinal degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik T A 14: 64,210,931 (GRCm39) Q99L probably damaging Het
Abca2 A G 2: 25,327,365 (GRCm39) Y641C probably damaging Het
Abhd10 A G 16: 45,557,254 (GRCm39) probably null Het
Acan G T 7: 78,750,349 (GRCm39) A1707S probably benign Het
Ankrd61 T A 5: 143,827,993 (GRCm39) R284S probably benign Het
Ap3d1 T C 10: 80,559,401 (GRCm39) K258E probably damaging Het
Arl6ip6 T G 2: 53,092,933 (GRCm39) F153V probably damaging Het
Atp2c2 C A 8: 120,484,180 (GRCm39) F930L probably benign Het
Avl9 T C 6: 56,703,309 (GRCm39) probably null Het
Axin2 A G 11: 108,814,159 (GRCm39) S16G probably damaging Het
Axin2 T A 11: 108,814,936 (GRCm39) probably benign Het
Bbs7 A T 3: 36,656,981 (GRCm39) D282E probably benign Het
Ccny A T 18: 9,345,201 (GRCm39) V191D probably damaging Het
Cdk11b A G 4: 155,725,957 (GRCm39) probably benign Het
Chd1 T A 17: 17,607,552 (GRCm39) C367S probably benign Het
Cnnm4 G A 1: 36,537,091 (GRCm39) V472M probably damaging Het
Cpb2 T A 14: 75,479,817 (GRCm39) I8N probably benign Het
Dusp11 A G 6: 85,935,712 (GRCm39) probably benign Het
Elmo1 T C 13: 20,756,629 (GRCm39) probably null Het
Gbf1 C T 19: 46,274,143 (GRCm39) P1726S probably benign Het
Hal A G 10: 93,343,415 (GRCm39) probably benign Het
Hlcs T C 16: 93,939,766 (GRCm39) I671V possibly damaging Het
Ifnab A G 4: 88,609,071 (GRCm39) S132P probably benign Het
Ing5 T C 1: 93,740,142 (GRCm39) I70T probably damaging Het
Ints1 T C 5: 139,758,193 (GRCm39) N228S probably damaging Het
Itgb6 T A 2: 60,458,185 (GRCm39) I523F probably benign Het
Kat2b T C 17: 53,945,565 (GRCm39) F328S possibly damaging Het
Kbtbd3 A T 9: 4,316,950 (GRCm39) I34F possibly damaging Het
Klhl11 A T 11: 100,354,348 (GRCm39) I491N probably damaging Het
Lrp1 G T 10: 127,428,005 (GRCm39) P523T probably damaging Het
Lrp1b T A 2: 40,620,810 (GRCm39) D3556V probably benign Het
Lrp2 T A 2: 69,365,387 (GRCm39) H262L probably benign Het
Lrrc27 T A 7: 138,806,103 (GRCm39) I256K probably benign Het
Lrrc47 G A 4: 154,104,089 (GRCm39) R523K probably benign Het
Lrrc71 A T 3: 87,653,084 (GRCm39) S111T probably benign Het
Map3k7cl T C 16: 87,378,100 (GRCm39) V72A probably damaging Het
Mphosph10 G T 7: 64,038,603 (GRCm39) probably benign Het
Nlrp4a T C 7: 26,148,657 (GRCm39) probably benign Het
Nsd2 A T 5: 34,048,895 (GRCm39) M1140L probably damaging Het
Nt5dc3 T C 10: 86,661,155 (GRCm39) M440T possibly damaging Het
Oog4 A T 4: 143,164,259 (GRCm39) L424Q probably damaging Het
Or5h17 T C 16: 58,820,450 (GRCm39) V134A probably benign Het
Orc5 A T 5: 22,738,782 (GRCm39) Y160N possibly damaging Het
Papola T C 12: 105,785,097 (GRCm39) F410L probably benign Het
Pcdh10 A G 3: 45,333,932 (GRCm39) E82G probably damaging Het
Pcdh20 T C 14: 88,706,439 (GRCm39) Y287C probably damaging Het
Pld1 T A 3: 28,142,787 (GRCm39) probably null Het
Plekha8 G A 6: 54,593,743 (GRCm39) probably null Het
Ppbp C T 5: 90,917,202 (GRCm39) T93M possibly damaging Het
Prpsap2 A G 11: 61,631,826 (GRCm39) I177T possibly damaging Het
Rab3gap2 C T 1: 184,994,891 (GRCm39) T810M possibly damaging Het
Rassf9 A G 10: 102,381,872 (GRCm39) N418S possibly damaging Het
Rnf20 C G 4: 49,650,176 (GRCm39) R582G possibly damaging Het
Serpine2 T C 1: 79,799,147 (GRCm39) I36V probably damaging Het
Sf3b2 C T 19: 5,324,852 (GRCm39) D845N probably damaging Het
Slc24a2 A T 4: 87,145,529 (GRCm39) V175E probably damaging Het
Sned1 T C 1: 93,213,673 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 GCC G 2: 121,889,928 (GRCm39) probably null Het
Tecrl C T 5: 83,442,506 (GRCm39) C189Y probably damaging Het
Tert A G 13: 73,797,110 (GRCm39) D1116G probably damaging Het
Thnsl2 T C 6: 71,116,774 (GRCm39) Y126C probably damaging Het
Tll2 T C 19: 41,171,752 (GRCm39) probably null Het
Ubqln4 C T 3: 88,463,276 (GRCm39) S147L probably benign Het
Ugt2b5 A T 5: 87,288,117 (GRCm39) C17S probably benign Het
Vps41 A T 13: 19,026,417 (GRCm39) Q505L probably benign Het
Zfp386 T C 12: 116,018,436 (GRCm39) M35T possibly damaging Het
Zfp777 T C 6: 48,021,410 (GRCm39) M71V possibly damaging Het
Zfp938 A T 10: 82,063,662 (GRCm39) L34Q probably damaging Het
Zfp974 A T 7: 27,620,120 (GRCm39) probably null Het
Other mutations in Lmo7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Lmo7 APN 14 102,124,487 (GRCm39) missense probably damaging 0.99
IGL00733:Lmo7 APN 14 102,153,138 (GRCm39) missense probably damaging 1.00
IGL00778:Lmo7 APN 14 102,148,321 (GRCm39) splice site probably benign
IGL01014:Lmo7 APN 14 102,157,993 (GRCm39) splice site probably benign
IGL01401:Lmo7 APN 14 102,031,713 (GRCm39) nonsense probably null
IGL01550:Lmo7 APN 14 102,163,576 (GRCm39) utr 3 prime probably benign
IGL01570:Lmo7 APN 14 102,139,807 (GRCm39) critical splice donor site probably null
IGL01602:Lmo7 APN 14 102,148,192 (GRCm39) splice site probably benign
IGL01605:Lmo7 APN 14 102,148,192 (GRCm39) splice site probably benign
IGL02012:Lmo7 APN 14 102,126,152 (GRCm39) intron probably benign
IGL02145:Lmo7 APN 14 102,139,659 (GRCm39) missense probably benign 0.00
IGL02236:Lmo7 APN 14 102,163,524 (GRCm39) splice site probably benign
IGL02318:Lmo7 APN 14 102,137,502 (GRCm39) splice site probably benign
IGL02345:Lmo7 APN 14 102,124,909 (GRCm39) missense probably damaging 1.00
IGL02498:Lmo7 APN 14 102,044,918 (GRCm39) missense probably benign 0.01
IGL02583:Lmo7 APN 14 102,171,360 (GRCm39) utr 3 prime probably benign
IGL02670:Lmo7 APN 14 102,118,416 (GRCm39) missense probably damaging 1.00
IGL02694:Lmo7 APN 14 102,124,606 (GRCm39) missense probably damaging 1.00
IGL03026:Lmo7 APN 14 102,166,769 (GRCm39) utr 3 prime probably benign
IGL03062:Lmo7 APN 14 102,149,515 (GRCm39) missense possibly damaging 0.66
IGL03068:Lmo7 APN 14 102,112,928 (GRCm39) unclassified probably benign
IGL03178:Lmo7 APN 14 102,166,696 (GRCm39) nonsense probably null
IGL03279:Lmo7 APN 14 102,137,944 (GRCm39) missense probably benign 0.30
PIT4458001:Lmo7 UTSW 14 102,124,923 (GRCm39) nonsense probably null
R0029:Lmo7 UTSW 14 102,171,357 (GRCm39) utr 3 prime probably benign
R0112:Lmo7 UTSW 14 102,124,629 (GRCm39) nonsense probably null
R0345:Lmo7 UTSW 14 102,114,313 (GRCm39) missense probably damaging 1.00
R0393:Lmo7 UTSW 14 102,137,892 (GRCm39) missense probably benign
R0514:Lmo7 UTSW 14 102,133,995 (GRCm39) missense probably damaging 1.00
R0514:Lmo7 UTSW 14 102,124,609 (GRCm39) missense probably damaging 1.00
R0526:Lmo7 UTSW 14 102,137,996 (GRCm39) missense probably damaging 1.00
R0615:Lmo7 UTSW 14 102,114,295 (GRCm39) nonsense probably null
R0900:Lmo7 UTSW 14 102,124,624 (GRCm39) missense probably damaging 1.00
R0961:Lmo7 UTSW 14 102,031,705 (GRCm39) missense probably benign 0.00
R0964:Lmo7 UTSW 14 102,158,003 (GRCm39) splice site probably benign
R1078:Lmo7 UTSW 14 102,157,910 (GRCm39) splice site probably benign
R1252:Lmo7 UTSW 14 102,138,019 (GRCm39) missense probably damaging 1.00
R1527:Lmo7 UTSW 14 102,114,264 (GRCm39) missense probably damaging 1.00
R1537:Lmo7 UTSW 14 102,166,700 (GRCm39) utr 3 prime probably benign
R1565:Lmo7 UTSW 14 102,124,957 (GRCm39) missense probably damaging 0.99
R1637:Lmo7 UTSW 14 102,118,268 (GRCm39) missense probably damaging 1.00
R1943:Lmo7 UTSW 14 102,139,738 (GRCm39) missense probably damaging 1.00
R1967:Lmo7 UTSW 14 102,137,651 (GRCm39) missense probably benign 0.36
R2002:Lmo7 UTSW 14 102,124,497 (GRCm39) missense probably benign 0.13
R2057:Lmo7 UTSW 14 102,124,614 (GRCm39) missense probably damaging 1.00
R2131:Lmo7 UTSW 14 102,137,674 (GRCm39) missense probably damaging 0.99
R2153:Lmo7 UTSW 14 102,157,951 (GRCm39) utr 3 prime probably benign
R2257:Lmo7 UTSW 14 102,137,566 (GRCm39) missense probably damaging 1.00
R2355:Lmo7 UTSW 14 102,126,121 (GRCm39) missense probably damaging 1.00
R2356:Lmo7 UTSW 14 102,124,381 (GRCm39) missense probably damaging 1.00
R2898:Lmo7 UTSW 14 102,114,350 (GRCm39) missense possibly damaging 0.93
R3847:Lmo7 UTSW 14 102,159,531 (GRCm39) critical splice acceptor site probably null
R3848:Lmo7 UTSW 14 102,159,531 (GRCm39) critical splice acceptor site probably null
R3849:Lmo7 UTSW 14 102,159,531 (GRCm39) critical splice acceptor site probably null
R3916:Lmo7 UTSW 14 102,166,778 (GRCm39) utr 3 prime probably benign
R4050:Lmo7 UTSW 14 102,139,713 (GRCm39) nonsense probably null
R4326:Lmo7 UTSW 14 102,137,510 (GRCm39) missense possibly damaging 0.93
R4357:Lmo7 UTSW 14 102,125,091 (GRCm39) missense probably null 1.00
R4571:Lmo7 UTSW 14 102,125,030 (GRCm39) missense probably damaging 0.96
R4658:Lmo7 UTSW 14 102,124,393 (GRCm39) missense probably damaging 1.00
R4857:Lmo7 UTSW 14 102,124,784 (GRCm39) splice site probably null
R5006:Lmo7 UTSW 14 102,163,673 (GRCm39) utr 3 prime probably benign
R5528:Lmo7 UTSW 14 102,139,522 (GRCm39) missense probably damaging 1.00
R5588:Lmo7 UTSW 14 102,134,026 (GRCm39) splice site probably null
R5643:Lmo7 UTSW 14 102,166,772 (GRCm39) utr 3 prime probably benign
R5644:Lmo7 UTSW 14 102,166,772 (GRCm39) utr 3 prime probably benign
R5650:Lmo7 UTSW 14 102,136,110 (GRCm39) missense probably damaging 1.00
R5737:Lmo7 UTSW 14 102,124,672 (GRCm39) missense probably damaging 1.00
R5832:Lmo7 UTSW 14 102,121,649 (GRCm39) missense probably damaging 1.00
R5966:Lmo7 UTSW 14 102,137,938 (GRCm39) missense possibly damaging 0.92
R6026:Lmo7 UTSW 14 102,118,426 (GRCm39) missense probably benign 0.04
R6072:Lmo7 UTSW 14 102,166,772 (GRCm39) utr 3 prime probably benign
R6158:Lmo7 UTSW 14 102,137,573 (GRCm39) missense probably benign 0.03
R6246:Lmo7 UTSW 14 102,156,136 (GRCm39) missense probably damaging 1.00
R6335:Lmo7 UTSW 14 102,138,072 (GRCm39) missense probably damaging 1.00
R6620:Lmo7 UTSW 14 102,112,888 (GRCm39) missense probably benign 0.29
R6658:Lmo7 UTSW 14 102,148,281 (GRCm39) missense possibly damaging 0.84
R6917:Lmo7 UTSW 14 102,155,446 (GRCm39) missense probably damaging 1.00
R7064:Lmo7 UTSW 14 102,121,615 (GRCm39) missense probably damaging 1.00
R7072:Lmo7 UTSW 14 102,136,136 (GRCm39) critical splice donor site probably null
R7121:Lmo7 UTSW 14 102,124,471 (GRCm39) missense probably damaging 1.00
R7136:Lmo7 UTSW 14 102,157,975 (GRCm39) missense unknown
R7196:Lmo7 UTSW 14 102,133,936 (GRCm39) missense possibly damaging 0.75
R7228:Lmo7 UTSW 14 102,133,971 (GRCm39) missense probably damaging 0.99
R7337:Lmo7 UTSW 14 102,121,640 (GRCm39) missense probably damaging 0.98
R7341:Lmo7 UTSW 14 102,122,948 (GRCm39) missense probably benign 0.30
R7408:Lmo7 UTSW 14 102,118,389 (GRCm39) missense probably damaging 1.00
R7432:Lmo7 UTSW 14 102,139,551 (GRCm39) missense probably benign 0.42
R7470:Lmo7 UTSW 14 102,138,040 (GRCm39) missense possibly damaging 0.83
R7506:Lmo7 UTSW 14 102,157,045 (GRCm39) missense unknown
R7559:Lmo7 UTSW 14 102,124,662 (GRCm39) nonsense probably null
R7565:Lmo7 UTSW 14 102,122,737 (GRCm39) missense probably damaging 0.98
R7788:Lmo7 UTSW 14 102,136,012 (GRCm39) missense possibly damaging 0.64
R8095:Lmo7 UTSW 14 102,124,855 (GRCm39) missense possibly damaging 0.88
R8100:Lmo7 UTSW 14 102,137,899 (GRCm39) missense probably benign 0.33
R8121:Lmo7 UTSW 14 102,163,736 (GRCm39) missense unknown
R8308:Lmo7 UTSW 14 102,139,807 (GRCm39) critical splice donor site probably null
R8371:Lmo7 UTSW 14 102,124,444 (GRCm39) missense possibly damaging 0.95
R8403:Lmo7 UTSW 14 102,139,800 (GRCm39) missense probably benign 0.03
R8690:Lmo7 UTSW 14 102,168,644 (GRCm39) missense unknown
R8778:Lmo7 UTSW 14 102,156,655 (GRCm39) missense probably benign 0.24
R8778:Lmo7 UTSW 14 102,149,503 (GRCm39) missense probably damaging 0.98
R8822:Lmo7 UTSW 14 102,121,610 (GRCm39) missense probably damaging 1.00
R8849:Lmo7 UTSW 14 102,163,543 (GRCm39) missense unknown
R8923:Lmo7 UTSW 14 102,137,679 (GRCm39) missense probably benign 0.31
R9006:Lmo7 UTSW 14 102,155,072 (GRCm39) small deletion probably benign
R9135:Lmo7 UTSW 14 102,118,297 (GRCm39) missense probably damaging 1.00
R9154:Lmo7 UTSW 14 102,122,743 (GRCm39) missense probably damaging 0.99
R9178:Lmo7 UTSW 14 102,044,906 (GRCm39) nonsense probably null
R9375:Lmo7 UTSW 14 102,136,123 (GRCm39) missense probably damaging 0.99
R9428:Lmo7 UTSW 14 102,155,076 (GRCm39) missense probably damaging 0.99
R9488:Lmo7 UTSW 14 102,122,783 (GRCm39) missense possibly damaging 0.85
R9493:Lmo7 UTSW 14 102,137,907 (GRCm39) missense probably benign 0.01
R9594:Lmo7 UTSW 14 102,156,136 (GRCm39) missense probably null 0.98
R9674:Lmo7 UTSW 14 102,078,340 (GRCm39) missense probably damaging 1.00
R9736:Lmo7 UTSW 14 102,157,929 (GRCm39) missense unknown
X0066:Lmo7 UTSW 14 102,124,897 (GRCm39) missense probably damaging 1.00
X0067:Lmo7 UTSW 14 102,124,369 (GRCm39) splice site probably null
Z1176:Lmo7 UTSW 14 102,156,717 (GRCm39) missense probably benign 0.00
Z1176:Lmo7 UTSW 14 102,121,742 (GRCm39) missense probably damaging 0.99
Z1176:Lmo7 UTSW 14 102,166,664 (GRCm39) missense unknown
Z1176:Lmo7 UTSW 14 102,156,879 (GRCm39) missense unknown
Z1177:Lmo7 UTSW 14 102,135,993 (GRCm39) missense probably damaging 1.00
Z1177:Lmo7 UTSW 14 102,133,954 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGACTGACGCTGATCTGTGAGACC -3'
(R):5'- GGTGCAAAATATGCACGCAATACGC -3'

Sequencing Primer
(F):5'- GCATCATTGTGGTATAAGCCAGC -3'
(R):5'- CGCAATACGCAACAGTCTTAG -3'
Posted On 2013-04-24