Incidental Mutation 'IGL00953:Limd1'
ID28215
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: 0.289) question?
Stock #IGL00953
Quality Score
Status
Chromosome9
Chromosomal Location123478706-123521552 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 123479883 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 216 (S216T)
Ref Sequence ENSEMBL: ENSMUSP00000026269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026269]
Predicted Effect probably benign
Transcript: ENSMUST00000026269
AA Change: S216T

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000026269
Gene: ENSMUSG00000025239
AA Change: S216T

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 120,011,221 E726G probably benign Het
Cdyl2 T A 8: 116,595,189 probably benign Het
Cep41 T C 6: 30,660,967 T109A probably benign Het
Clca3b C T 3: 144,847,211 W84* probably null Het
Cyp27b1 A G 10: 127,049,682 D130G probably benign Het
Cyp2f2 T C 7: 27,129,817 V249A possibly damaging Het
Cyth3 G A 5: 143,707,165 probably null Het
Dnah8 G T 17: 30,706,457 E1289* probably null Het
Fam171a1 A T 2: 3,178,290 D51V possibly damaging Het
Farp2 A G 1: 93,561,174 R107G possibly damaging Het
Gemin6 T C 17: 80,227,865 F85L possibly damaging Het
Hivep3 A C 4: 120,098,374 T1296P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Htt T A 5: 34,818,677 S670T probably benign Het
Klhl24 A T 16: 20,122,967 N555I possibly damaging Het
Lmf2 A T 15: 89,353,899 I234N probably damaging Het
Mrpl4 C A 9: 21,008,567 D271E probably benign Het
Mydgf C T 17: 56,179,407 G75R probably damaging Het
Nat1 A G 8: 67,490,978 D5G possibly damaging Het
Olfr178 A C 16: 58,889,685 H178Q probably damaging Het
Olfr190 A T 16: 59,074,689 Y130* probably null Het
Olfr325 T C 11: 58,581,810 V322A probably benign Het
Pla2g4c T A 7: 13,344,026 M363K probably benign Het
Prex1 A G 2: 166,638,409 F137S probably damaging Het
Rbm12b1 A G 4: 12,146,038 D670G probably damaging Het
Rrp12 C A 19: 41,871,792 M997I possibly damaging Het
Scn3a A G 2: 65,497,392 V918A probably benign Het
Slc35g2 A G 9: 100,552,463 V385A probably damaging Het
Slit1 A T 19: 41,602,300 I1311N probably damaging Het
Ube2j2 C T 4: 155,946,377 probably benign Het
Ucp2 A G 7: 100,498,422 T203A probably benign Het
Upk1b C T 16: 38,779,985 G211D possibly damaging Het
Vmn1r220 A T 13: 23,183,765 F254I probably benign Het
Zcchc4 T C 5: 52,808,296 F314S probably damaging Het
Other mutations in Limd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Limd1 APN 9 123480076 missense probably benign 0.06
IGL01815:Limd1 APN 9 123479736 missense probably benign 0.01
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
R7493:Limd1 UTSW 9 123479683 missense probably benign 0.00
X0028:Limd1 UTSW 9 123516862 missense probably damaging 0.99
Posted On2013-04-17