Incidental Mutation 'R3916:Lmo7'
ID 309774
Institutional Source Beutler Lab
Gene Symbol Lmo7
Ensembl Gene ENSMUSG00000033060
Gene Name LIM domain only 7
Synonyms FBXO20, LOC380928
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R3916 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 101729957-101934710 bp(+) (GRCm38)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 101929342 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100337] [ENSMUST00000159258] [ENSMUST00000159314] [ENSMUST00000159597]
AlphaFold E9PYF4
Predicted Effect unknown
Transcript: ENSMUST00000100337
AA Change: S1586P
SMART Domains Protein: ENSMUSP00000097910
Gene: ENSMUSG00000033060
AA Change: S1586P

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 unknown
Transcript: ENSMUST00000159314
AA Change: S1353P
SMART Domains Protein: ENSMUSP00000124349
Gene: ENSMUSG00000033060
AA Change: S1353P

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 unknown
Transcript: ENSMUST00000159597
AA Change: S1491P
SMART Domains Protein: ENSMUSP00000123706
Gene: ENSMUSG00000033060
AA Change: S1491P

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 unknown
Transcript: ENSMUST00000159806
AA Change: S1075P
SMART Domains Protein: ENSMUSP00000124300
Gene: ENSMUSG00000033060
AA Change: S1075P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160038
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T G 2: 68,731,985 (GRCm38) F319V possibly damaging Het
Acad12 A G 5: 121,599,214 (GRCm38) V498A probably damaging Het
Adam19 A G 11: 46,060,935 (GRCm38) E37G probably benign Het
Anks3 A G 16: 4,947,279 (GRCm38) Y423H probably damaging Het
Arfgef1 A T 1: 10,189,443 (GRCm38) V600D probably benign Het
Arhgef18 T C 8: 3,454,197 (GRCm38) F939L probably benign Het
Arhgef2 A G 3: 88,633,033 (GRCm38) N127S probably damaging Het
Arid1b A G 17: 5,342,653 (GRCm38) S2100G probably benign Het
Atp1b2 A G 11: 69,603,075 (GRCm38) V93A probably damaging Het
Atrnl1 T C 19: 57,935,652 (GRCm38) V1283A possibly damaging Het
Bpifb5 A C 2: 154,228,181 (GRCm38) K184Q probably benign Het
Cadps C T 14: 12,457,702 (GRCm38) A1060T probably benign Het
Cant1 A G 11: 118,408,746 (GRCm38) V259A probably damaging Het
Ccdc89 A G 7: 90,426,825 (GRCm38) D81G probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,712,500 (GRCm38) probably benign Het
Cntnap4 C G 8: 112,875,533 (GRCm38) P1190A probably benign Het
Colgalt2 T A 1: 152,508,611 (GRCm38) Y567* probably null Het
Cyp4f18 A T 8: 71,996,037 (GRCm38) F256Y probably benign Het
Ddx41 G A 13: 55,534,480 (GRCm38) R205W possibly damaging Het
Dopey1 G A 9: 86,521,133 (GRCm38) R1462H probably damaging Het
Dync1i2 A G 2: 71,249,372 (GRCm38) T377A probably damaging Het
F2 G A 2: 91,625,488 (GRCm38) T600M probably damaging Het
Fam91a1 C T 15: 58,430,734 (GRCm38) H308Y probably damaging Het
Fkbp2 C A 19: 6,978,557 (GRCm38) probably null Het
Gabarapl2 T A 8: 111,952,396 (GRCm38) F115L probably benign Het
Heatr3 T G 8: 88,150,371 (GRCm38) probably null Het
Ifi204 T G 1: 173,755,775 (GRCm38) K292N possibly damaging Het
Itpkc A T 7: 27,228,303 (GRCm38) I62N probably benign Het
Kcnab1 G A 3: 65,304,164 (GRCm38) probably null Het
Krt88 G A 15: 101,452,928 (GRCm38) probably null Het
Larp4 C T 15: 99,990,403 (GRCm38) T107I probably benign Het
Lrrc37a T C 11: 103,455,518 (GRCm38) Y3174C possibly damaging Het
Lyzl4 T A 9: 121,583,035 (GRCm38) D105V probably damaging Het
Mst1 A G 9: 108,084,295 (GRCm38) I575V probably benign Het
Myh7 C A 14: 54,974,046 (GRCm38) E1555D probably damaging Het
Nwd1 T A 8: 72,667,811 (GRCm38) C608* probably null Het
Obox3 C A 7: 15,627,226 (GRCm38) C38F probably benign Het
P4ha2 A G 11: 54,126,248 (GRCm38) D441G probably benign Het
Pcdhb14 A T 18: 37,448,545 (GRCm38) I235F possibly damaging Het
Rasgrf2 A G 13: 92,030,788 (GRCm38) V259A probably damaging Het
Scn1a T C 2: 66,277,613 (GRCm38) T1590A probably damaging Het
Sdk1 T A 5: 142,051,244 (GRCm38) D817E probably damaging Het
Sema3b A G 9: 107,600,458 (GRCm38) F482S probably damaging Het
Slc35a5 G C 16: 45,158,158 (GRCm38) probably benign Het
Slc6a3 A G 13: 73,562,308 (GRCm38) I346V probably benign Het
Slu7 G T 11: 43,440,684 (GRCm38) probably null Het
Spns1 A T 7: 126,371,539 (GRCm38) probably null Het
Supv3l1 T C 10: 62,449,420 (GRCm38) D89G possibly damaging Het
Taf1c G A 8: 119,600,505 (GRCm38) R412W probably damaging Het
Tctn3 T A 19: 40,607,649 (GRCm38) T305S possibly damaging Het
Tekt1 A G 11: 72,345,748 (GRCm38) I296T possibly damaging Het
Tet2 T C 3: 133,486,055 (GRCm38) K873E possibly damaging Het
Thada G A 17: 84,441,782 (GRCm38) A587V possibly damaging Het
Tmprss15 T A 16: 78,985,996 (GRCm38) N712Y probably damaging Het
Tnks A G 8: 34,853,361 (GRCm38) S719P probably damaging Het
Tnrc6a A C 7: 123,181,384 (GRCm38) Q1332H probably damaging Het
Trpv3 A G 11: 73,283,734 (GRCm38) D309G possibly damaging Het
Tti2 A G 8: 31,153,519 (GRCm38) K221E possibly damaging Het
Uba5 A T 9: 104,054,190 (GRCm38) C227S probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm38) P46S probably benign Het
Unc80 T C 1: 66,677,495 (GRCm38) C2925R probably benign Het
Vmn2r83 G A 10: 79,478,910 (GRCm38) G331R probably benign Het
Xirp2 G T 2: 67,511,422 (GRCm38) V1336F probably benign Het
Zbed5 T C 5: 129,902,277 (GRCm38) Y356H possibly damaging Het
Other mutations in Lmo7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Lmo7 APN 14 101,887,051 (GRCm38) missense probably damaging 0.99
IGL00733:Lmo7 APN 14 101,915,702 (GRCm38) missense probably damaging 1.00
IGL00778:Lmo7 APN 14 101,910,885 (GRCm38) splice site probably benign
IGL01014:Lmo7 APN 14 101,920,557 (GRCm38) splice site probably benign
IGL01401:Lmo7 APN 14 101,794,277 (GRCm38) nonsense probably null
IGL01550:Lmo7 APN 14 101,926,140 (GRCm38) utr 3 prime probably benign
IGL01570:Lmo7 APN 14 101,902,371 (GRCm38) critical splice donor site probably null
IGL01602:Lmo7 APN 14 101,910,756 (GRCm38) splice site probably benign
IGL01605:Lmo7 APN 14 101,910,756 (GRCm38) splice site probably benign
IGL02012:Lmo7 APN 14 101,888,716 (GRCm38) intron probably benign
IGL02145:Lmo7 APN 14 101,902,223 (GRCm38) missense probably benign 0.00
IGL02236:Lmo7 APN 14 101,926,088 (GRCm38) splice site probably benign
IGL02318:Lmo7 APN 14 101,900,066 (GRCm38) splice site probably benign
IGL02345:Lmo7 APN 14 101,887,473 (GRCm38) missense probably damaging 1.00
IGL02498:Lmo7 APN 14 101,807,482 (GRCm38) missense probably benign 0.01
IGL02583:Lmo7 APN 14 101,933,924 (GRCm38) utr 3 prime probably benign
IGL02670:Lmo7 APN 14 101,880,980 (GRCm38) missense probably damaging 1.00
IGL02694:Lmo7 APN 14 101,887,170 (GRCm38) missense probably damaging 1.00
IGL03026:Lmo7 APN 14 101,929,333 (GRCm38) utr 3 prime probably benign
IGL03062:Lmo7 APN 14 101,912,079 (GRCm38) missense possibly damaging 0.66
IGL03068:Lmo7 APN 14 101,875,492 (GRCm38) unclassified probably benign
IGL03178:Lmo7 APN 14 101,929,260 (GRCm38) nonsense probably null
IGL03279:Lmo7 APN 14 101,900,508 (GRCm38) missense probably benign 0.30
PIT4458001:Lmo7 UTSW 14 101,887,487 (GRCm38) nonsense probably null
R0029:Lmo7 UTSW 14 101,933,921 (GRCm38) utr 3 prime probably benign
R0112:Lmo7 UTSW 14 101,887,193 (GRCm38) nonsense probably null
R0345:Lmo7 UTSW 14 101,876,877 (GRCm38) missense probably damaging 1.00
R0372:Lmo7 UTSW 14 101,918,053 (GRCm38) splice site probably benign
R0393:Lmo7 UTSW 14 101,900,456 (GRCm38) missense probably benign
R0514:Lmo7 UTSW 14 101,896,559 (GRCm38) missense probably damaging 1.00
R0514:Lmo7 UTSW 14 101,887,173 (GRCm38) missense probably damaging 1.00
R0526:Lmo7 UTSW 14 101,900,560 (GRCm38) missense probably damaging 1.00
R0615:Lmo7 UTSW 14 101,876,859 (GRCm38) nonsense probably null
R0900:Lmo7 UTSW 14 101,887,188 (GRCm38) missense probably damaging 1.00
R0961:Lmo7 UTSW 14 101,794,269 (GRCm38) missense probably benign 0.00
R0964:Lmo7 UTSW 14 101,920,567 (GRCm38) splice site probably benign
R1078:Lmo7 UTSW 14 101,920,474 (GRCm38) splice site probably benign
R1252:Lmo7 UTSW 14 101,900,583 (GRCm38) missense probably damaging 1.00
R1527:Lmo7 UTSW 14 101,876,828 (GRCm38) missense probably damaging 1.00
R1537:Lmo7 UTSW 14 101,929,264 (GRCm38) utr 3 prime probably benign
R1565:Lmo7 UTSW 14 101,887,521 (GRCm38) missense probably damaging 0.99
R1637:Lmo7 UTSW 14 101,880,832 (GRCm38) missense probably damaging 1.00
R1943:Lmo7 UTSW 14 101,902,302 (GRCm38) missense probably damaging 1.00
R1967:Lmo7 UTSW 14 101,900,215 (GRCm38) missense probably benign 0.36
R2002:Lmo7 UTSW 14 101,887,061 (GRCm38) missense probably benign 0.13
R2057:Lmo7 UTSW 14 101,887,178 (GRCm38) missense probably damaging 1.00
R2131:Lmo7 UTSW 14 101,900,238 (GRCm38) missense probably damaging 0.99
R2153:Lmo7 UTSW 14 101,920,515 (GRCm38) utr 3 prime probably benign
R2257:Lmo7 UTSW 14 101,900,130 (GRCm38) missense probably damaging 1.00
R2355:Lmo7 UTSW 14 101,888,685 (GRCm38) missense probably damaging 1.00
R2356:Lmo7 UTSW 14 101,886,945 (GRCm38) missense probably damaging 1.00
R2898:Lmo7 UTSW 14 101,876,914 (GRCm38) missense possibly damaging 0.93
R3847:Lmo7 UTSW 14 101,922,095 (GRCm38) critical splice acceptor site probably null
R3848:Lmo7 UTSW 14 101,922,095 (GRCm38) critical splice acceptor site probably null
R3849:Lmo7 UTSW 14 101,922,095 (GRCm38) critical splice acceptor site probably null
R4050:Lmo7 UTSW 14 101,902,277 (GRCm38) nonsense probably null
R4326:Lmo7 UTSW 14 101,900,074 (GRCm38) missense possibly damaging 0.93
R4357:Lmo7 UTSW 14 101,887,655 (GRCm38) missense probably null 1.00
R4571:Lmo7 UTSW 14 101,887,594 (GRCm38) missense probably damaging 0.96
R4658:Lmo7 UTSW 14 101,886,957 (GRCm38) missense probably damaging 1.00
R4857:Lmo7 UTSW 14 101,887,348 (GRCm38) splice site probably null
R5006:Lmo7 UTSW 14 101,926,237 (GRCm38) utr 3 prime probably benign
R5528:Lmo7 UTSW 14 101,902,086 (GRCm38) missense probably damaging 1.00
R5588:Lmo7 UTSW 14 101,896,590 (GRCm38) splice site probably null
R5643:Lmo7 UTSW 14 101,929,336 (GRCm38) utr 3 prime probably benign
R5644:Lmo7 UTSW 14 101,929,336 (GRCm38) utr 3 prime probably benign
R5650:Lmo7 UTSW 14 101,898,674 (GRCm38) missense probably damaging 1.00
R5737:Lmo7 UTSW 14 101,887,236 (GRCm38) missense probably damaging 1.00
R5832:Lmo7 UTSW 14 101,884,213 (GRCm38) missense probably damaging 1.00
R5966:Lmo7 UTSW 14 101,900,502 (GRCm38) missense possibly damaging 0.92
R6026:Lmo7 UTSW 14 101,880,990 (GRCm38) missense probably benign 0.04
R6072:Lmo7 UTSW 14 101,929,336 (GRCm38) utr 3 prime probably benign
R6158:Lmo7 UTSW 14 101,900,137 (GRCm38) missense probably benign 0.03
R6246:Lmo7 UTSW 14 101,918,700 (GRCm38) missense probably damaging 1.00
R6335:Lmo7 UTSW 14 101,900,636 (GRCm38) missense probably damaging 1.00
R6620:Lmo7 UTSW 14 101,875,452 (GRCm38) missense probably benign 0.29
R6658:Lmo7 UTSW 14 101,910,845 (GRCm38) missense possibly damaging 0.84
R6917:Lmo7 UTSW 14 101,918,010 (GRCm38) missense probably damaging 1.00
R7064:Lmo7 UTSW 14 101,884,179 (GRCm38) missense probably damaging 1.00
R7072:Lmo7 UTSW 14 101,898,700 (GRCm38) critical splice donor site probably null
R7121:Lmo7 UTSW 14 101,887,035 (GRCm38) missense probably damaging 1.00
R7136:Lmo7 UTSW 14 101,920,539 (GRCm38) missense unknown
R7196:Lmo7 UTSW 14 101,896,500 (GRCm38) missense possibly damaging 0.75
R7228:Lmo7 UTSW 14 101,896,535 (GRCm38) missense probably damaging 0.99
R7337:Lmo7 UTSW 14 101,884,204 (GRCm38) missense probably damaging 0.98
R7341:Lmo7 UTSW 14 101,885,512 (GRCm38) missense probably benign 0.30
R7408:Lmo7 UTSW 14 101,880,953 (GRCm38) missense probably damaging 1.00
R7432:Lmo7 UTSW 14 101,902,115 (GRCm38) missense probably benign 0.42
R7470:Lmo7 UTSW 14 101,900,604 (GRCm38) missense possibly damaging 0.83
R7506:Lmo7 UTSW 14 101,919,609 (GRCm38) missense unknown
R7559:Lmo7 UTSW 14 101,887,226 (GRCm38) nonsense probably null
R7565:Lmo7 UTSW 14 101,885,301 (GRCm38) missense probably damaging 0.98
R7788:Lmo7 UTSW 14 101,898,576 (GRCm38) missense possibly damaging 0.64
R8095:Lmo7 UTSW 14 101,887,419 (GRCm38) missense possibly damaging 0.88
R8100:Lmo7 UTSW 14 101,900,463 (GRCm38) missense probably benign 0.33
R8121:Lmo7 UTSW 14 101,926,300 (GRCm38) missense unknown
R8308:Lmo7 UTSW 14 101,902,371 (GRCm38) critical splice donor site probably null
R8371:Lmo7 UTSW 14 101,887,008 (GRCm38) missense possibly damaging 0.95
R8403:Lmo7 UTSW 14 101,902,364 (GRCm38) missense probably benign 0.03
R8690:Lmo7 UTSW 14 101,931,208 (GRCm38) missense unknown
R8778:Lmo7 UTSW 14 101,919,219 (GRCm38) missense probably benign 0.24
R8778:Lmo7 UTSW 14 101,912,067 (GRCm38) missense probably damaging 0.98
R8822:Lmo7 UTSW 14 101,884,174 (GRCm38) missense probably damaging 1.00
R8849:Lmo7 UTSW 14 101,926,107 (GRCm38) missense unknown
R8923:Lmo7 UTSW 14 101,900,243 (GRCm38) missense probably benign 0.31
R9006:Lmo7 UTSW 14 101,917,636 (GRCm38) small deletion probably benign
R9135:Lmo7 UTSW 14 101,880,861 (GRCm38) missense probably damaging 1.00
R9154:Lmo7 UTSW 14 101,885,307 (GRCm38) missense probably damaging 0.99
R9178:Lmo7 UTSW 14 101,807,470 (GRCm38) nonsense probably null
R9375:Lmo7 UTSW 14 101,898,687 (GRCm38) missense probably damaging 0.99
R9428:Lmo7 UTSW 14 101,917,640 (GRCm38) missense probably damaging 0.99
R9488:Lmo7 UTSW 14 101,885,347 (GRCm38) missense possibly damaging 0.85
R9493:Lmo7 UTSW 14 101,900,471 (GRCm38) missense probably benign 0.01
R9594:Lmo7 UTSW 14 101,918,700 (GRCm38) missense probably null 0.98
R9674:Lmo7 UTSW 14 101,840,904 (GRCm38) missense probably damaging 1.00
R9736:Lmo7 UTSW 14 101,920,493 (GRCm38) missense unknown
X0066:Lmo7 UTSW 14 101,887,461 (GRCm38) missense probably damaging 1.00
X0067:Lmo7 UTSW 14 101,886,933 (GRCm38) splice site probably null
Z1176:Lmo7 UTSW 14 101,919,281 (GRCm38) missense probably benign 0.00
Z1176:Lmo7 UTSW 14 101,884,306 (GRCm38) missense probably damaging 0.99
Z1176:Lmo7 UTSW 14 101,929,228 (GRCm38) missense unknown
Z1176:Lmo7 UTSW 14 101,919,443 (GRCm38) missense unknown
Z1177:Lmo7 UTSW 14 101,898,557 (GRCm38) missense probably damaging 1.00
Z1177:Lmo7 UTSW 14 101,896,518 (GRCm38) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGAGGGGAGTCTCTGGACAATC -3'
(R):5'- AGCTTTGATACAGGAACACCC -3'

Sequencing Primer
(F):5'- GAGTCTCTGGACAATCTGGATTCC -3'
(R):5'- TTCCATGCACTCAAAAGGACTTG -3'
Posted On 2015-04-17