Incidental Mutation 'IGL03196:Lmo3'
ID 412834
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmo3
Ensembl Gene ENSMUSG00000030226
Gene Name LIM domain only 3
Synonyms Rbtn-3, Rbtn3
Accession Numbers
Essential gene? Possibly essential (E-score: 0.749) question?
Stock # IGL03196
Quality Score
Status
Chromosome 6
Chromosomal Location 138339916-138558966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 138342993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 140 (T140A)
Ref Sequence ENSEMBL: ENSMUSP00000124762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160050] [ENSMUST00000161450] [ENSMUST00000162772] [ENSMUST00000163024] [ENSMUST00000163065] [ENSMUST00000203435]
AlphaFold Q8BZL8
Predicted Effect probably benign
Transcript: ENSMUST00000160050
SMART Domains Protein: ENSMUSP00000124722
Gene: ENSMUSG00000030226

DomainStartEndE-ValueType
LIM 12 59 7.82e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161450
AA Change: T129A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000124862
Gene: ENSMUSG00000030226
AA Change: T129A

DomainStartEndE-ValueType
LIM 12 66 8.69e-15 SMART
LIM 76 130 3.12e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162772
AA Change: T129A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000125335
Gene: ENSMUSG00000030226
AA Change: T129A

DomainStartEndE-ValueType
LIM 12 66 8.69e-15 SMART
LIM 76 130 3.12e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163024
AA Change: T129A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000125589
Gene: ENSMUSG00000030226
AA Change: T129A

DomainStartEndE-ValueType
LIM 12 66 8.69e-15 SMART
LIM 76 130 3.12e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163065
AA Change: T140A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000124762
Gene: ENSMUSG00000030226
AA Change: T140A

DomainStartEndE-ValueType
LIM 23 77 8.69e-15 SMART
LIM 87 141 3.12e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203435
AA Change: T129A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000145048
Gene: ENSMUSG00000030226
AA Change: T129A

DomainStartEndE-ValueType
LIM 12 66 8.69e-15 SMART
LIM 76 130 3.12e-16 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant mice show no overt phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T C 6: 83,138,045 (GRCm39) V57A probably damaging Het
Adck1 T C 12: 88,397,885 (GRCm39) V173A probably damaging Het
Adgrv1 C A 13: 81,594,597 (GRCm39) R4139L probably benign Het
Aqp4 T G 18: 15,526,566 (GRCm39) D305A probably benign Het
Cadm1 T C 9: 47,710,675 (GRCm39) S193P possibly damaging Het
Ccdc88a T C 11: 29,432,340 (GRCm39) S377P possibly damaging Het
Clic5 C A 17: 44,552,960 (GRCm39) H71Q possibly damaging Het
Col20a1 G A 2: 180,649,671 (GRCm39) probably null Het
Col5a1 A G 2: 27,865,610 (GRCm39) D759G unknown Het
Cplane1 A T 15: 8,230,826 (GRCm39) K1034N probably damaging Het
Cpt1b A G 15: 89,308,598 (GRCm39) V110A probably benign Het
Cts8 C T 13: 61,401,272 (GRCm39) G85S probably benign Het
Cul5 T A 9: 53,537,180 (GRCm39) M551L probably damaging Het
Eno1b T A 18: 48,180,558 (GRCm39) D245E probably damaging Het
Fgf1 A T 18: 38,975,028 (GRCm39) Y140* probably null Het
Flt1 A G 5: 147,551,937 (GRCm39) probably null Het
Fndc7 A G 3: 108,790,760 (GRCm39) Y89H probably damaging Het
Gm3127 A T 14: 15,432,259 (GRCm39) M254L probably benign Het
Gm5849 T C 3: 90,685,089 (GRCm39) E32G probably damaging Het
Gys1 T C 7: 45,104,241 (GRCm39) probably benign Het
H2ap A G X: 9,713,349 (GRCm39) Q27R possibly damaging Het
Hdgfl2 T C 17: 56,400,607 (GRCm39) V125A probably benign Het
Igkv6-32 C T 6: 70,051,042 (GRCm39) V105I probably benign Het
Marf1 A G 16: 13,958,123 (GRCm39) V793A possibly damaging Het
Mep1b A C 18: 21,228,121 (GRCm39) I575L probably benign Het
Mtmr4 T A 11: 87,491,609 (GRCm39) I155N possibly damaging Het
Muc2 T C 7: 141,301,367 (GRCm39) F361L probably damaging Het
Ncoa7 T A 10: 30,523,510 (GRCm39) probably benign Het
Nme6 C T 9: 109,670,561 (GRCm39) R71W probably damaging Het
Or56b1b T C 7: 108,164,061 (GRCm39) S314G probably benign Het
Or9g4b G A 2: 85,616,365 (GRCm39) G170D possibly damaging Het
Or9m2 A T 2: 87,820,826 (GRCm39) I124F possibly damaging Het
Osbpl9 C T 4: 108,930,061 (GRCm39) V357I probably damaging Het
Ppp4r3a A G 12: 101,015,913 (GRCm39) probably benign Het
Rnf216 T C 5: 143,066,766 (GRCm39) R474G probably damaging Het
Rpp25l A G 4: 41,712,541 (GRCm39) V78A possibly damaging Het
Sh3bp2 C A 5: 34,714,687 (GRCm39) P245Q probably damaging Het
Slc33a1 A G 3: 63,871,151 (GRCm39) F154S possibly damaging Het
Wasf2 T A 4: 132,921,732 (GRCm39) S284T unknown Het
Wdtc1 T C 4: 133,022,648 (GRCm39) E566G probably damaging Het
Zcchc14 C T 8: 122,335,877 (GRCm39) probably benign Het
Other mutations in Lmo3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01768:Lmo3 APN 6 138,393,495 (GRCm39) missense probably damaging 1.00
R0319:Lmo3 UTSW 6 138,354,309 (GRCm39) missense probably damaging 1.00
R2119:Lmo3 UTSW 6 138,393,492 (GRCm39) missense probably damaging 1.00
R6860:Lmo3 UTSW 6 138,393,566 (GRCm39) missense possibly damaging 0.83
R7318:Lmo3 UTSW 6 138,398,363 (GRCm39) intron probably benign
R7443:Lmo3 UTSW 6 138,354,220 (GRCm39) missense probably damaging 1.00
R7483:Lmo3 UTSW 6 138,393,500 (GRCm39) missense probably damaging 1.00
R9367:Lmo3 UTSW 6 138,342,958 (GRCm39) nonsense probably null
R9500:Lmo3 UTSW 6 138,393,621 (GRCm39) missense
X0027:Lmo3 UTSW 6 138,393,482 (GRCm39) missense probably damaging 1.00
Z1177:Lmo3 UTSW 6 138,393,498 (GRCm39) missense probably benign 0.10
Z1177:Lmo3 UTSW 6 138,393,494 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02