Incidental Mutation 'R6658:Lmo7'
ID 526737
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: 0.133) question?
Stock # R6658 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 101967393-102172146 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102148281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 934 (D934G)
Ref Sequence ENSEMBL: ENSMUSP00000123706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100337] [ENSMUST00000159258] [ENSMUST00000159314] [ENSMUST00000159597]
AlphaFold E9PYF4
Predicted Effect possibly damaging
Transcript: ENSMUST00000100337
AA Change: D1056G

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097910
Gene: ENSMUSG00000033060
AA Change: D1056G

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 possibly damaging
Transcript: ENSMUST00000159314
AA Change: D823G

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124349
Gene: ENSMUSG00000033060
AA Change: D823G

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 possibly damaging
Transcript: ENSMUST00000159597
AA Change: D934G

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123706
Gene: ENSMUSG00000033060
AA Change: D934G

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: D545G
SMART Domains Protein: ENSMUSP00000124300
Gene: ENSMUSG00000033060
AA Change: D545G

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: ENSMUST00000159948
Meta Mutation Damage Score 0.0938 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 96% (53/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A G 9: 90,077,353 (GRCm39) N1340S probably damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Antxr1 C A 6: 87,261,291 (GRCm39) R167L probably damaging Het
BC107364 T C 3: 96,348,026 (GRCm39) S88G unknown Het
Cfap100 T G 6: 90,390,400 (GRCm39) E80A probably damaging Het
Dhx8 C A 11: 101,655,748 (GRCm39) H1107Q probably damaging Het
Dip2c G A 13: 9,543,213 (GRCm39) probably null Het
Dpep2 A T 8: 106,716,542 (GRCm39) D212E probably benign Het
Dpep3 T C 8: 106,705,728 (GRCm39) T66A probably benign Het
Fat4 G T 3: 38,997,077 (GRCm39) M1765I probably benign Het
Gbgt1 G A 2: 28,394,998 (GRCm39) R212H probably benign Het
Gimap4 T C 6: 48,668,338 (GRCm39) S215P possibly damaging Het
Gpr161 A T 1: 165,134,136 (GRCm39) T133S possibly damaging Het
Grin2c G T 11: 115,149,108 (GRCm39) S163R possibly damaging Het
Grip2 T A 6: 91,763,472 (GRCm39) N109Y probably damaging Het
H60c G A 10: 3,210,270 (GRCm39) T93I possibly damaging Het
Hmgcl A G 4: 135,682,962 (GRCm39) N138S probably damaging Het
Hoxa3 G T 6: 52,147,058 (GRCm39) Y398* probably null Het
Igkv1-132 A G 6: 67,737,091 (GRCm39) N19S probably benign Het
Ikbip A G 10: 90,932,181 (GRCm39) N275S probably benign Het
Il7 T A 3: 7,642,239 (GRCm39) T33S probably benign Het
Iqgap2 A T 13: 95,796,840 (GRCm39) Y1105N probably damaging Het
Mroh4 T C 15: 74,492,978 (GRCm39) Q310R possibly damaging Het
Mtmr14 C A 6: 113,242,437 (GRCm39) Y22* probably null Het
Muc5b G T 7: 141,422,244 (GRCm39) probably null Het
Naga T G 15: 82,214,975 (GRCm39) K328Q probably benign Het
Neo1 G A 9: 58,829,132 (GRCm39) T589I probably benign Het
Nme5 A C 18: 34,711,639 (GRCm39) I34S probably damaging Het
Nrip2 T C 6: 128,385,199 (GRCm39) L210P possibly damaging Het
Nup93 A G 8: 95,030,807 (GRCm39) D424G probably benign Het
Or12e9 T C 2: 87,202,497 (GRCm39) V207A probably benign Het
Or1e26 G A 11: 73,479,874 (GRCm39) S230F probably damaging Het
Papss1 T A 3: 131,311,696 (GRCm39) V308E probably benign Het
Pilrb1 T A 5: 137,855,789 (GRCm39) Y34F probably benign Het
Pira2 T A 7: 3,845,300 (GRCm39) E319D probably benign Het
Pkhd1 G A 1: 20,682,929 (GRCm39) T91M probably damaging Het
Prph2 A G 17: 47,230,790 (GRCm39) T228A probably benign Het
Ranbp17 G T 11: 33,169,214 (GRCm39) S1000* probably null Het
Rbm27 A C 18: 42,457,178 (GRCm39) H651P probably damaging Het
Scyl2 A T 10: 89,476,835 (GRCm39) D763E probably benign Het
Sltm A G 9: 70,488,644 (GRCm39) Y598C probably damaging Het
Smc2 A T 4: 52,451,322 (GRCm39) K322I probably benign Het
Tcf4 G A 18: 69,790,873 (GRCm39) R271Q probably null Het
Tex36 C T 7: 133,196,140 (GRCm39) D87N probably damaging Het
Tex44 A C 1: 86,354,751 (GRCm39) H220P probably benign Het
Tjp1 T C 7: 64,950,825 (GRCm39) D1683G possibly damaging Het
Trav7-2 T C 14: 53,628,573 (GRCm39) S104P probably damaging Het
Trim55 C T 3: 19,745,719 (GRCm39) R532C probably damaging Het
Ube3c T A 5: 29,807,215 (GRCm39) L338Q probably damaging Het
Ush2a A G 1: 188,546,556 (GRCm39) H3444R possibly damaging Het
Vars1 A G 17: 35,234,717 (GRCm39) D1182G probably benign Het
Vit T A 17: 78,930,232 (GRCm39) I399N possibly damaging Het
Vmn1r16 A T 6: 57,300,091 (GRCm39) L177* 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
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
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'- ACATCTTATCAAAGCCAAGGAAGG -3'
(R):5'- GGGAAGAAACTGTCCTTTGCC -3'

Sequencing Primer
(F):5'- AGGAAGTGGGAAGCTACTGTTTTATG -3'
(R):5'- GAAGAAACTGTCCTTTGCCTCCAC -3'
Posted On 2018-07-23