Incidental Mutation 'IGL01815:Limd1'
ID154377
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Limd1
Ensembl Gene ENSMUSG00000025239
Gene NameLIM domains containing 1
SynonymsD9Ertd192e
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.401) question?
Stock #IGL01815
Quality Score
Status
Chromosome9
Chromosomal Location123478706-123521552 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 123479736 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 167 (S167P)
Ref Sequence ENSEMBL: ENSMUSP00000026269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026269]
Predicted Effect probably benign
Transcript: ENSMUST00000026269
AA Change: S167P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000026269
Gene: ENSMUSG00000025239
AA Change: S167P

DomainStartEndE-ValueType
low complexity region 57 67 N/A INTRINSIC
low complexity region 238 252 N/A INTRINSIC
LIM 463 516 2.17e-15 SMART
LIM 528 580 9.6e-17 SMART
LIM 588 649 2.26e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216352
Predicted Effect probably benign
Transcript: ENSMUST00000217639
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal basal bone osteoclast numbers and bone density but are resistant to physiological and pathologic osteoclastogenic stimuli. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 A G 4: 155,902,187 E324G probably damaging Het
Arhgap20 T A 9: 51,846,168 Y487N probably damaging Het
Babam2 C T 5: 31,702,098 A3V possibly damaging Het
Fat4 T C 3: 38,888,773 L605P probably damaging Het
Frmpd1 A G 4: 45,284,239 H1020R probably benign Het
Ighv1-53 T A 12: 115,158,597 M53L probably benign Het
Lepr A T 4: 101,814,790 I1004F possibly damaging Het
Lrrc10b T C 19: 10,456,753 D188G probably damaging Het
Nlrp4e T C 7: 23,321,438 L450P probably benign Het
Olfr1457 A T 19: 13,095,656 probably null Het
Olfr58 A G 9: 19,784,015 N294S probably damaging Het
Olfr657 T A 7: 104,636,345 Y224N probably damaging Het
Olfr836 G T 9: 19,121,326 D121Y probably damaging Het
P2ry13 T C 3: 59,209,700 N219S probably benign Het
Pcnx A G 12: 81,990,551 D1861G probably damaging Het
Phlpp2 A G 8: 109,939,859 I1007V probably benign Het
Ppp2r1a A G 17: 20,956,832 N211D probably benign Het
Psmd5 A T 2: 34,852,771 F440L probably benign Het
Rpe65 T A 3: 159,604,530 probably null Het
Utrn T C 10: 12,652,716 T2172A probably benign Het
Vwa8 C T 14: 79,198,277 T1809M possibly damaging Het
Wdr70 C T 15: 7,887,324 probably null Het
Other mutations in Limd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Limd1 APN 9 123479883 missense probably benign 0.31
IGL00972:Limd1 APN 9 123480076 missense probably benign 0.06
IGL02598:Limd1 APN 9 123516868 missense probably benign 0.11
IGL02598:Limd1 APN 9 123480171 missense probably benign
IGL02633:Limd1 APN 9 123479922 unclassified probably benign
IGL02999:Limd1 APN 9 123516799 missense probably damaging 1.00
R0314:Limd1 UTSW 9 123516827 missense probably benign 0.04
R1612:Limd1 UTSW 9 123518154 missense probably damaging 1.00
R2009:Limd1 UTSW 9 123479499 missense probably benign
R2299:Limd1 UTSW 9 123516877 nonsense probably null
R3791:Limd1 UTSW 9 123480374 missense possibly damaging 0.92
R4453:Limd1 UTSW 9 123480294 missense possibly damaging 0.52
R5979:Limd1 UTSW 9 123479414 missense possibly damaging 0.96
X0028:Limd1 UTSW 9 123516862 missense probably damaging 0.99
Posted On2014-02-04