Incidental Mutation 'R7136:Lmo7'
ID 553095
Institutional Source Beutler Lab
Gene Symbol Lmo7
Ensembl Gene ENSMUSG00000033060
Gene Name LIM domain only 7
Synonyms FBXO20, LOC380928
MMRRC Submission 045220-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R7136 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 101967393-102172146 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102157975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1436 (M1436K)
Ref Sequence ENSEMBL: ENSMUSP00000097910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100337] [ENSMUST00000159258] [ENSMUST00000159314] [ENSMUST00000159597]
AlphaFold E9PYF4
Predicted Effect unknown
Transcript: ENSMUST00000100337
AA Change: M1436K
SMART Domains Protein: ENSMUSP00000097910
Gene: ENSMUSG00000033060
AA Change: M1436K

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 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: M1203K
SMART Domains Protein: ENSMUSP00000124349
Gene: ENSMUSG00000033060
AA Change: M1203K

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: M1341K
SMART Domains Protein: ENSMUSP00000123706
Gene: ENSMUSG00000033060
AA Change: M1341K

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
SMART Domains Protein: ENSMUSP00000124300
Gene: ENSMUSG00000033060
AA Change: M925K

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (68/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A G 5: 138,560,610 (GRCm39) S262P probably damaging Het
Abcc2 A G 19: 43,825,899 (GRCm39) E1512G probably damaging Het
Abcg2 T G 6: 58,661,325 (GRCm39) Y459D possibly damaging Het
Amy1 T C 3: 113,357,248 (GRCm39) Y197C probably damaging Het
Bptf A G 11: 106,990,541 (GRCm39) I516T probably damaging Het
Capn12 T A 7: 28,582,532 (GRCm39) probably null Het
Cbln2 T A 18: 86,734,797 (GRCm39) L190Q probably damaging Het
Ccdc157 C T 11: 4,098,592 (GRCm39) E305K possibly damaging Het
Ccdc47 A G 11: 106,095,830 (GRCm39) S289P probably benign Het
Chd3 C T 11: 69,239,264 (GRCm39) E1756K probably null Het
Chrd G T 16: 20,553,272 (GRCm39) A183S possibly damaging Het
Cp C T 3: 20,039,822 (GRCm39) R880* probably null Het
Cyp24a1 A T 2: 170,336,063 (GRCm39) D191E probably benign Het
Dnah1 T C 14: 31,020,613 (GRCm39) Y1252C probably damaging Het
Eps8l1 A G 7: 4,480,403 (GRCm39) D487G probably damaging Het
Fam227b T G 2: 125,965,948 (GRCm39) Q159P probably damaging Het
Fat3 A G 9: 16,289,481 (GRCm39) I14T probably benign Het
Fbxl19 C A 7: 127,349,217 (GRCm39) T129N possibly damaging Het
Fuca2 T C 10: 13,381,665 (GRCm39) F193L probably benign Het
H2-Q1 T C 17: 35,539,603 (GRCm39) probably null Het
Hgh1 A G 15: 76,254,631 (GRCm39) M336V probably benign Het
Il12b T C 11: 44,298,857 (GRCm39) L104P probably benign Het
Kcnh2 A T 5: 24,537,989 (GRCm39) F125I probably benign Het
Kcnk7 A G 19: 5,756,104 (GRCm39) H110R probably benign Het
Kdm3a G A 6: 71,588,764 (GRCm39) P415L probably benign Het
Kifc3 T C 8: 95,830,077 (GRCm39) T610A probably benign Het
Krbox5 A G 13: 67,991,111 (GRCm39) probably null Het
Lmbr1l C A 15: 98,809,372 (GRCm39) probably null Het
Lrp1 C T 10: 127,394,491 (GRCm39) C2574Y probably damaging Het
Med13l A G 5: 118,859,587 (GRCm39) E258G possibly damaging Het
Mesp1 T C 7: 79,442,906 (GRCm39) I124V probably damaging Het
Mrgpra2a A T 7: 47,076,934 (GRCm39) I108N probably benign Het
Nos1 G T 5: 118,033,925 (GRCm39) R349L possibly damaging Het
Or5k3 C T 16: 58,969,327 (GRCm39) T38I probably damaging Het
Or7c70 T C 10: 78,683,615 (GRCm39) I45V probably benign Het
Osgin1 T A 8: 120,168,176 (GRCm39) M1K probably null Het
Pde4dip C T 3: 97,601,379 (GRCm39) S2346N probably benign Het
Pde7a T C 3: 19,285,258 (GRCm39) M310V probably benign Het
Pigw G A 11: 84,768,585 (GRCm39) T248M probably damaging Het
Pink1 T C 4: 138,044,769 (GRCm39) T323A probably damaging Het
Polr3a C T 14: 24,511,883 (GRCm39) R891Q probably damaging Het
Prkar1b C A 5: 139,094,363 (GRCm39) C75F probably benign Het
Prss58 C T 6: 40,876,987 (GRCm39) probably null Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Pttg1ip2 A T 5: 5,516,631 (GRCm39) D63E possibly damaging Het
Qars1 T C 9: 108,389,971 (GRCm39) I350T probably damaging Het
Qprt T C 7: 126,707,984 (GRCm39) K149R probably damaging Het
Rasgrf1 T A 9: 89,873,651 (GRCm39) D653E probably damaging Het
Rbm26 T C 14: 105,381,703 (GRCm39) M481V possibly damaging Het
Rdx C T 9: 51,997,745 (GRCm39) T573M probably damaging Het
Rgs14 A G 13: 55,527,508 (GRCm39) probably null Het
Robo2 T C 16: 73,753,438 (GRCm39) E813G probably damaging Het
Rrbp1 A T 2: 143,791,600 (GRCm39) F1369I probably benign Het
Sh2d4b T A 14: 40,562,209 (GRCm39) T319S probably benign Het
Slc7a15 G T 12: 8,588,895 (GRCm39) N217K probably damaging Het
Stmn1 A G 4: 134,198,088 (GRCm39) K42E probably damaging Het
Tbl2 T G 5: 135,178,682 (GRCm39) W31G probably benign Het
Tmem8b T C 4: 43,669,845 (GRCm39) C114R possibly damaging Het
Tsc2 T C 17: 24,832,254 (GRCm39) S711G probably benign Het
Ttn T C 2: 76,666,904 (GRCm39) R11531G unknown Het
Ube2e3 T C 2: 78,744,085 (GRCm39) Y105H probably benign Het
Usp16 G T 16: 87,280,059 (GRCm39) C753F probably benign Het
Vmn1r13 T C 6: 57,187,239 (GRCm39) S133P possibly damaging Het
Vmn2r76 T A 7: 85,877,975 (GRCm39) Q474L probably benign Het
Vps52 T C 17: 34,184,262 (GRCm39) I601T probably benign Het
Wasf1 A T 10: 40,802,587 (GRCm39) T81S possibly damaging Het
Wdr82 A G 9: 106,048,532 (GRCm39) S39G probably benign Het
Zdhhc13 A G 7: 48,451,080 (GRCm39) I108V probably benign 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
R0372:Lmo7 UTSW 14 102,155,489 (GRCm39) splice site probably benign
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
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'- CTACAGCAGCTGATTGAAATGTGTTTC -3'
(R):5'- CGTGCGGGCAGAAGTTAATG -3'

Sequencing Primer
(F):5'- AGCTGATTGAAATGTGTTTCTAGATC -3'
(R):5'- AGCTCAGCTCAGAATGCTG -3'
Posted On 2019-05-15