Incidental Mutation 'R9594:Lmo7'
ID 723184
Institutional Source Beutler Lab
Gene Symbol Lmo7
Ensembl Gene ENSMUSG00000033060
Gene Name LIM domain only 7
Synonyms FBXO20, LOC380928
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R9594 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 101967393-102172146 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102156136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1270 (D1270G)
Ref Sequence ENSEMBL: ENSMUSP00000097910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100337] [ENSMUST00000159258] [ENSMUST00000159314] [ENSMUST00000159597]
AlphaFold E9PYF4
Predicted Effect probably null
Transcript: ENSMUST00000100337
AA Change: D1270G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097910
Gene: ENSMUSG00000033060
AA Change: D1270G

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 probably damaging
Transcript: ENSMUST00000159314
AA Change: D1037G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124349
Gene: ENSMUSG00000033060
AA Change: D1037G

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 damaging
Transcript: ENSMUST00000159597
AA Change: D1175G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123706
Gene: ENSMUSG00000033060
AA Change: D1175G

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: D759G

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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
Aida T C 1: 183,095,012 (GRCm39) V151A possibly damaging Het
Akap3 T C 6: 126,842,377 (GRCm39) V332A probably damaging Het
Apobec3 T A 15: 79,790,653 (GRCm39) W332R Het
Atf6 A G 1: 170,668,402 (GRCm39) V166A probably benign Het
Bcl6b A G 11: 70,118,858 (GRCm39) probably null Het
Brd3 G T 2: 27,340,373 (GRCm39) P612Q probably damaging Het
Btg1 T A 10: 96,453,263 (GRCm39) L26H probably damaging Het
Btg4 A G 9: 51,030,560 (GRCm39) D220G probably damaging Het
Cd209e T C 8: 3,901,183 (GRCm39) D157G probably benign Het
Cdhr18 A T 14: 13,814,959 (GRCm38) L858Q unknown Het
Cimip2b T G 4: 43,427,329 (GRCm39) T332P unknown Het
Dnah10 T C 5: 124,907,107 (GRCm39) L4269P probably damaging Het
Dync1li2 C A 8: 105,154,752 (GRCm39) K285N possibly damaging Het
Ehmt2 C A 17: 35,118,740 (GRCm39) Q198K possibly damaging Het
Foxn3 C A 12: 99,359,294 (GRCm39) probably benign Het
Fstl4 C T 11: 52,664,694 (GRCm39) P8L probably benign Het
G6pc1 T C 11: 101,258,660 (GRCm39) I13T possibly damaging Het
Ghrhr A G 6: 55,362,470 (GRCm39) I356V probably benign Het
Gm14410 A T 2: 176,885,773 (GRCm39) C164S probably damaging Het
Gpcpd1 A T 2: 132,388,848 (GRCm39) M308K possibly damaging Het
Gpr143 GTTTTTT GTTTTTTT X: 151,578,627 (GRCm39) probably null Het
Gpr179 T C 11: 97,225,727 (GRCm39) K2143E probably benign Het
Grm2 G A 9: 106,524,408 (GRCm39) T298I probably damaging Het
H2-T24 A T 17: 36,326,455 (GRCm39) L148Q probably damaging Het
Hcn2 C T 10: 79,560,559 (GRCm39) R297C probably damaging Het
Hic1 T C 11: 75,056,757 (GRCm39) T711A possibly damaging Het
Ide T C 19: 37,264,514 (GRCm39) D672G Het
Impg1 A G 9: 80,288,923 (GRCm39) F378S probably damaging Het
Lipe T C 7: 25,098,128 (GRCm39) probably benign Het
Mbnl1 A T 3: 60,520,859 (GRCm39) H149L probably damaging Het
Mmel1 T C 4: 154,978,592 (GRCm39) Y675H probably benign Het
Mrfap1 C A 5: 36,953,807 (GRCm39) R44L probably damaging Het
Nherf2 G T 17: 24,868,922 (GRCm39) T68K probably damaging Het
Notch2 A G 3: 98,041,889 (GRCm39) T1303A possibly damaging Het
Olfm3 A G 3: 114,883,785 (GRCm39) D62G probably damaging Het
Or10ak13 T C 4: 118,638,952 (GRCm39) I277V probably benign Het
Or2i1 C G 17: 37,508,308 (GRCm39) A109P possibly damaging Het
Or5g27 C T 2: 85,409,882 (GRCm39) Q100* probably null Het
Or5l13 T C 2: 87,780,544 (GRCm39) E11G probably damaging Het
Or5p59 T G 7: 107,702,663 (GRCm39) I49S probably damaging Het
Or6c8b T A 10: 128,882,354 (GRCm39) I193F probably benign Het
Pcbd2 A G 13: 55,880,849 (GRCm39) Y68C probably benign Het
Phf3 G C 1: 30,869,003 (GRCm39) Q682E probably benign Het
Ptpn6 C A 6: 124,704,728 (GRCm39) R294L probably benign Het
Ptprz1 T A 6: 23,025,026 (GRCm39) V1754D probably damaging Het
Rab36 T A 10: 74,887,873 (GRCm39) I248K probably damaging Het
Rabac1 A G 7: 24,671,579 (GRCm39) Y114H probably benign Het
Rag1 A G 2: 101,474,701 (GRCm39) V147A probably benign Het
Rnf150 T A 8: 83,717,144 (GRCm39) V217D probably damaging Het
Scarf2 G T 16: 17,620,473 (GRCm39) C101F probably damaging Het
Sh3glb2 C T 2: 30,236,672 (GRCm39) R230Q probably damaging Het
Slc13a1 A G 6: 24,089,100 (GRCm39) V550A probably damaging Het
Sp140 A G 1: 85,560,235 (GRCm39) N289S possibly damaging Het
Spmip6 T C 4: 41,505,091 (GRCm39) E207G Het
Stac3 T A 10: 127,338,654 (GRCm39) M1K probably null Het
Stk31 C T 6: 49,424,221 (GRCm39) T845I possibly damaging Het
Sufu T C 19: 46,385,674 (GRCm39) Y45H probably damaging Het
Tg T A 15: 66,607,109 (GRCm39) C1834* probably null Het
Tns3 G A 11: 8,401,142 (GRCm39) T1052M possibly damaging Het
Tpcn1 T C 5: 120,686,021 (GRCm39) T427A possibly damaging Het
Trim45 A G 3: 100,830,265 (GRCm39) H13R probably benign Het
Trpv5 A G 6: 41,647,773 (GRCm39) F347L probably benign Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Zfp236 G T 18: 82,664,238 (GRCm39) Q516K probably damaging 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
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
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'- TCCAGGACTAAAACTCTGATTGGTC -3'
(R):5'- ATAACTGCTTGGTGCTATACAAGAG -3'

Sequencing Primer
(F):5'- CTCTGATTGGTCACATGAAAGAGTG -3'
(R):5'- CTGCTTGGTGCTATACAAGAGAAAAG -3'
Posted On 2022-08-09