Incidental Mutation 'R3791:Limd1'
ID272543
Institutional Source Beutler Lab
Gene Symbol Limd1
Ensembl Gene ENSMUSG00000025239
Gene NameLIM domains containing 1
SynonymsD9Ertd192e
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.359) question?
Stock #R3791 (G1)
Quality Score225
Status Not validated
Chromosome9
Chromosomal Location123478706-123521552 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 123480374 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 379 (S379R)
Ref Sequence ENSEMBL: ENSMUSP00000026269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026269]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026269
AA Change: S379R

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026269
Gene: ENSMUSG00000025239
AA Change: S379R

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 93.9%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik AGGTGGTGGTGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGG 6: 132,626,516 probably benign Het
A930009A15Rik A T 10: 115,578,289 probably benign Het
Adgrv1 T C 13: 81,593,102 Y81C probably damaging Het
Alx3 A T 3: 107,600,706 Y177F probably damaging Het
C6 A G 15: 4,735,235 T138A probably benign Het
Cacna2d3 T C 14: 29,183,581 M410V probably benign Het
Celsr3 G A 9: 108,842,552 R2450H probably benign Het
Cnrip1 C T 11: 17,054,845 probably benign Het
Col6a5 A C 9: 105,864,669 D2350E probably damaging Het
Cyp4a12b A G 4: 115,434,970 I407V probably benign Het
Gpx4 A G 10: 80,056,189 I245V probably benign Het
H2-K1 A G 17: 33,999,525 I139T probably benign Het
Hmgcl A G 4: 135,959,987 K191R probably benign Het
Hpdl A G 4: 116,820,532 V244A possibly damaging Het
Hpse A G 5: 100,692,238 S338P probably damaging Het
Ifi203 T C 1: 173,935,080 K162R possibly damaging Het
Kit A G 5: 75,639,150 N514S probably damaging Het
Kmt2d G A 15: 98,844,149 probably benign Het
Llph A G 10: 120,228,155 K59E probably benign Het
Lrrc7 T A 3: 158,163,956 M709L probably benign Het
Muc5ac A G 7: 141,798,501 S665G probably benign Het
Ncapd3 C T 9: 27,052,635 H524Y probably benign Het
Nfix CAAAAA CAAAA 8: 84,716,247 probably null Het
Olfr571 T C 7: 102,909,032 D269G probably benign Het
Papd5 G A 8: 88,243,329 E210K probably damaging Het
Phtf2 T C 5: 20,782,298 E400G probably damaging Het
Pkd1l3 T C 8: 109,636,317 V1080A probably damaging Het
Plch1 A T 3: 63,699,523 H1007Q probably benign Het
Prr5 T C 15: 84,681,216 S3P probably damaging Het
Qtrt1 G A 9: 21,419,340 D279N probably damaging Het
Rundc1 G A 11: 101,434,201 A578T probably damaging Het
Shc4 A T 2: 125,723,331 V16E probably damaging Het
Sik3 A T 9: 46,194,822 L329F possibly damaging Het
Slc36a3 A G 11: 55,125,156 S391P possibly damaging Het
Smad1 C A 8: 79,339,770 R426L probably damaging Het
Thrap3 A T 4: 126,167,500 N820K possibly damaging Het
Tnrc6b T C 15: 80,923,640 S1598P probably damaging Het
Ttn T C 2: 76,714,824 I32645V probably damaging Het
Wisp1 A G 15: 66,919,288 Y313C probably damaging Het
Zfp266 A C 9: 20,499,481 Y467D probably damaging Het
Zfp526 T A 7: 25,226,203 M629K probably damaging Het
Zfp788 A T 7: 41,649,728 H596L probably damaging Het
Zhx3 A G 2: 160,780,448 W600R possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GATATGAGGCTTCAGGCAGG -3'
(R):5'- GTGAGGGCTTCCAACTTCAATTC -3'

Sequencing Primer
(F):5'- TTCAGGCAGGGTCTTCAAAC -3'
(R):5'- CAACTTCAATTCCGCAGTGG -3'
Posted On2015-03-25