Incidental Mutation 'R3894:Mesd'
Institutional Source Beutler Lab
Gene Symbol Mesd
Ensembl Gene ENSMUSG00000038503
Gene Namemesoderm development LRP chaperone
Synonyms2210015O11Rik, Mesdc2, msd
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.684) question?
Stock #R3894 (G1)
Quality Score225
Status Not validated
Chromosomal Location83884466-83901532 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 83897785 bp
Amino Acid Change Leucine to Histidine at position 152 (L152H)
Ref Sequence ENSEMBL: ENSMUSP00000091768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094215] [ENSMUST00000130103]
PDB Structure
The solution structure of the core of mesoderm development (MESD). [SOLUTION NMR]
NMR solution structure of MESD [SOLUTION NMR]
MESD(12-155), The Core Structural Domain of MESD that Is Essential for Proper Folding of LRP5/6 [SOLUTION NMR]
NMR Solution Structure of Mesoderm Development (MESD) - closed conformation [SOLUTION NMR]
NMR Solution Structure of Mesoderm Development (MESD) - open conformation [SOLUTION NMR]
Structured Domain of Mus musculus Mesd [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000094215
AA Change: L152H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091768
Gene: ENSMUSG00000038503
AA Change: L152H

signal peptide 1 29 N/A INTRINSIC
Pfam:Mesd 43 202 4.5e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130103
SMART Domains Protein: ENSMUSP00000114218
Gene: ENSMUSG00000038503

signal peptide 1 38 N/A INTRINSIC
Pfam:Mesd 51 154 1.3e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138803
Predicted Effect probably benign
Transcript: ENSMUST00000153377
SMART Domains Protein: ENSMUSP00000115696
Gene: ENSMUSG00000038503

low complexity region 6 12 N/A INTRINSIC
Pfam:Mesd 30 51 3.9e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207373
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208403
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit failure to form the primitive stream and absence of mesodermal derivatives. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1s1 A G 7: 44,853,939 D180G probably damaging Het
Aldh1a7 A T 19: 20,696,398 Y457* probably null Het
Alpk3 C T 7: 81,078,390 P423S possibly damaging Het
Aox2 A T 1: 58,334,678 probably null Het
Crebbp T C 16: 4,096,102 T1316A probably benign Het
Cul3 C A 1: 80,283,690 V273F probably damaging Het
Dnah1 G T 14: 31,307,028 R582S probably benign Het
Fbxl2 T C 9: 114,003,193 N51S probably damaging Het
Gapvd1 T C 2: 34,728,476 D295G probably benign Het
Gdf7 A G 12: 8,298,845 S151P unknown Het
Gm10277 T C 11: 77,786,001 probably benign Het
Hdac4 T C 1: 91,970,968 E688G possibly damaging Het
Htr1d A G 4: 136,443,237 E259G probably benign Het
Ifi204 T C 1: 173,749,208 H609R possibly damaging Het
Ift80 T C 3: 68,917,999 D541G probably damaging Het
Il18r1 A T 1: 40,474,874 H80L possibly damaging Het
Lrp4 G A 2: 91,473,949 G158S probably damaging Het
Morf4l1 A T 9: 90,094,448 F276I possibly damaging Het
Mslnl G A 17: 25,742,934 V128M probably damaging Het
Mut G A 17: 40,955,139 C531Y probably damaging Het
Myo15 A G 11: 60,504,319 T2480A probably benign Het
Olfr1284 C A 2: 111,379,637 F212L probably benign Het
Olfr1317 T C 2: 112,142,014 I23T probably benign Het
Olfr1387 G A 11: 49,459,939 G87R possibly damaging Het
Olfr180 A G 16: 58,916,339 F101L probably benign Het
Olfr437 A T 6: 43,167,258 I67F probably benign Het
Ovgp1 T C 3: 105,986,567 probably benign Het
Ovgp1 A G 3: 105,986,596 probably benign Het
Pcbp4 A T 9: 106,461,371 Q59L possibly damaging Het
Prg4 G C 1: 150,454,759 probably benign Het
Rad50 T A 11: 53,678,870 I905L probably benign Het
Rp1l1 T C 14: 64,029,307 S781P probably benign Het
Rps3 C T 7: 99,479,896 R173H probably benign Het
Rtn3 T A 19: 7,435,085 T86S probably damaging Het
Sdha A T 13: 74,334,391 S268T probably benign Het
Sgo2b A T 8: 63,928,733 V355E possibly damaging Het
Sh3glb2 T C 2: 30,355,288 T60A probably damaging Het
Slc26a3 A C 12: 31,464,720 Y513S probably damaging Het
Slc35b2 T C 17: 45,566,442 V165A probably benign Het
Slco3a1 A G 7: 74,284,613 W604R probably damaging Het
Tet2 A G 3: 133,469,477 S1370P possibly damaging Het
Tmtc4 A T 14: 122,921,319 probably null Het
Tsga13 A G 6: 30,912,263 V18A probably benign Het
Ugt2a3 T C 5: 87,329,590 T317A probably benign Het
Zcchc4 A T 5: 52,784,100 D79V probably damaging Het
Other mutations in Mesd
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0118:Mesd UTSW 7 83895627 missense probably damaging 1.00
R0295:Mesd UTSW 7 83897865 nonsense probably null
R0761:Mesd UTSW 7 83895743 missense probably damaging 1.00
R1465:Mesd UTSW 7 83895582 missense probably benign 0.26
R1465:Mesd UTSW 7 83895582 missense probably benign 0.26
R4499:Mesd UTSW 7 83897977 missense probably benign 0.08
R4668:Mesd UTSW 7 83895756 missense probably damaging 0.99
R5100:Mesd UTSW 7 83897769 missense probably damaging 1.00
R5783:Mesd UTSW 7 83895675 missense probably damaging 1.00
R7246:Mesd UTSW 7 83892212 unclassified probably benign
R7286:Mesd UTSW 7 83895749 missense probably damaging 1.00
Predicted Primers
Posted On2015-04-17