Incidental Mutation 'R2898:Lmo7'
ID 261382
Institutional Source Beutler Lab
Gene Symbol Lmo7
Ensembl Gene ENSMUSG00000033060
Gene Name LIM domain only 7
Synonyms FBXO20, LOC380928
MMRRC Submission 040486-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R2898 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 101967393-102172146 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102114350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 31 (T31A)
Ref Sequence ENSEMBL: ENSMUSP00000123706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100337] [ENSMUST00000159026] [ENSMUST00000159258] [ENSMUST00000159314] [ENSMUST00000159597]
AlphaFold E9PYF4
Predicted Effect possibly damaging
Transcript: ENSMUST00000100337
AA Change: T153A

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097910
Gene: ENSMUSG00000033060
AA Change: T153A

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: ENSMUST00000159026
SMART Domains Protein: ENSMUSP00000124605
Gene: ENSMUSG00000033060

DomainStartEndE-ValueType
low complexity region 215 229 N/A INTRINSIC
coiled coil region 435 471 N/A INTRINSIC
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 possibly damaging
Transcript: ENSMUST00000159597
AA Change: T31A

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123706
Gene: ENSMUSG00000033060
AA Change: T31A

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 noncoding transcript
Transcript: ENSMUST00000159769
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159948
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162091
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik C T X: 77,413,868 (GRCm39) Q198* probably null Het
Acap3 C T 4: 155,987,916 (GRCm39) R547C possibly damaging Het
Acap3 G C 4: 155,989,388 (GRCm39) probably null Het
Adcy6 A G 15: 98,491,369 (GRCm39) S1075P probably damaging Het
Ankk1 T A 9: 49,333,122 (GRCm39) T121S probably benign Het
Bnc2 T C 4: 84,211,152 (GRCm39) I406V probably damaging Het
Bnipl T A 3: 95,150,360 (GRCm39) H219L probably benign Het
Brwd1 C A 16: 95,867,300 (GRCm39) M178I probably damaging Het
Cep192 T A 18: 67,988,341 (GRCm39) probably null Het
Chd5 T C 4: 152,456,572 (GRCm39) F970L probably damaging Het
Cit A G 5: 116,012,037 (GRCm39) probably null Het
Coq9 T C 8: 95,579,752 (GRCm39) Y236H probably damaging Het
Cxcr2 T C 1: 74,198,130 (GRCm39) V208A probably benign Het
Dnah10 G A 5: 124,894,734 (GRCm39) R3433H probably damaging Het
Dnmt3b G T 2: 153,509,550 (GRCm39) V268L possibly damaging Het
Fbxw21 T C 9: 108,985,404 (GRCm39) T125A possibly damaging Het
Fzd9 T G 5: 135,278,700 (GRCm39) D395A probably damaging Het
Gfm2 T C 13: 97,309,469 (GRCm39) V642A possibly damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Hid1 A G 11: 115,241,356 (GRCm39) S645P probably benign Het
Hmgxb3 C T 18: 61,288,368 (GRCm39) V500M probably benign Het
Hnf1a C T 5: 115,098,106 (GRCm39) W165* probably null Het
Hsd3b1 A T 3: 98,760,623 (GRCm39) C123S probably benign Het
Inpp4a A T 1: 37,405,675 (GRCm39) H148L probably benign Het
Itpr2 C T 6: 146,074,839 (GRCm39) R2338Q probably benign Het
Itpr2 A T 6: 146,224,667 (GRCm39) I1441N probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lrrc15 C T 16: 30,092,604 (GRCm39) R245H probably benign Het
Lrriq1 T C 10: 103,063,111 (GRCm39) N65S probably damaging Het
Mpp4 T C 1: 59,183,853 (GRCm39) I296V probably benign Het
Myo6 T A 9: 80,176,893 (GRCm39) probably null Het
Myo7a G T 7: 97,703,631 (GRCm39) Y2003* probably null Het
Myo7a T C 7: 97,746,413 (GRCm39) N246D probably damaging Het
Ndrg4 A G 8: 96,405,014 (GRCm39) probably null Het
Neu2 A G 1: 87,522,782 (GRCm39) S72G probably benign Het
Or51g1 T A 7: 102,634,084 (GRCm39) I96F probably benign Het
Or8b1c T C 9: 38,384,271 (GRCm39) V76A probably damaging Het
Pcdhb1 A G 18: 37,399,516 (GRCm39) Y489C probably damaging Het
Ppp1r10 A G 17: 36,239,784 (GRCm39) K501R probably damaging Het
Ppp1r9a C T 6: 4,906,558 (GRCm39) T371I probably benign Het
Prpf8 A T 11: 75,386,860 (GRCm39) T1102S probably benign Het
Ric8b T G 10: 84,783,761 (GRCm39) D206E probably benign Het
Sacm1l T C 9: 123,389,666 (GRCm39) probably null Het
Sema6c C A 3: 95,080,129 (GRCm39) L776M probably damaging Het
Serpinb8 A G 1: 107,534,776 (GRCm39) T32A unknown Het
Sh2b3 A T 5: 121,967,111 (GRCm39) M1K probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Spty2d1 T A 7: 46,643,100 (GRCm39) M664L unknown Het
Stk36 T A 1: 74,671,984 (GRCm39) S895T probably null Het
Sycp3 G A 10: 88,308,544 (GRCm39) E205K possibly damaging Het
Taok3 A G 5: 117,338,134 (GRCm39) probably null Het
Tasor2 T C 13: 3,635,122 (GRCm39) N562D possibly damaging Het
Tbc1d16 A T 11: 119,048,654 (GRCm39) I333N probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Thumpd2 C T 17: 81,351,557 (GRCm39) W288* probably null Het
Tnks2 T C 19: 36,849,990 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpm1 T C 9: 66,938,322 (GRCm39) D254G probably damaging Het
Usp53 A T 3: 122,751,223 (GRCm39) L278* probably null Het
Zfp37 C T 4: 62,110,014 (GRCm39) G350D probably damaging Het
Zfp777 C T 6: 48,002,594 (GRCm39) E543K probably damaging Het
Zfp81 A T 17: 33,553,274 (GRCm39) C513* 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
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'- CCACTTGCATTTGAACTGGTAC -3'
(R):5'- TGTGTGCCATCAAATTGCC -3'

Sequencing Primer
(F):5'- GGTACTTGCATACCAACTCACTGG -3'
(R):5'- TGGTCTGGAATAGATAGCCCACTC -3'
Posted On 2015-01-23