Incidental Mutation 'R3894:Mesd'
ID 310449
Institutional Source Beutler Lab
Gene Symbol Mesd
Ensembl Gene ENSMUSG00000038503
Gene Name mesoderm development LRP chaperone
Synonyms msd, 2210015O11Rik, Mesdc2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.579) question?
Stock # R3894 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 83533074-83549519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83546993 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9ERE7
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 44,503,363 (GRCm39) D180G probably damaging Het
Aldh1a7 A T 19: 20,673,762 (GRCm39) Y457* probably null Het
Alpk3 C T 7: 80,728,138 (GRCm39) P423S possibly damaging Het
Aox1 A T 1: 58,373,837 (GRCm39) probably null Het
Crebbp T C 16: 3,913,966 (GRCm39) T1316A probably benign Het
Cul3 C A 1: 80,261,407 (GRCm39) V273F probably damaging Het
Dnah1 G T 14: 31,028,985 (GRCm39) R582S probably benign Het
Fbxl2 T C 9: 113,832,261 (GRCm39) N51S probably damaging Het
Gapvd1 T C 2: 34,618,488 (GRCm39) D295G probably benign Het
Gdf7 A G 12: 8,348,845 (GRCm39) S151P unknown Het
Gm10277 T C 11: 77,676,827 (GRCm39) probably benign Het
Hdac4 T C 1: 91,898,690 (GRCm39) E688G possibly damaging Het
Htr1d A G 4: 136,170,548 (GRCm39) E259G probably benign Het
Ifi204 T C 1: 173,576,774 (GRCm39) H609R possibly damaging Het
Ift80 T C 3: 68,825,332 (GRCm39) D541G probably damaging Het
Il18r1 A T 1: 40,514,034 (GRCm39) H80L possibly damaging Het
Lrp4 G A 2: 91,304,294 (GRCm39) G158S probably damaging Het
Mmut G A 17: 41,266,030 (GRCm39) C531Y probably damaging Het
Morf4l1 A T 9: 89,976,501 (GRCm39) F276I possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myo15a A G 11: 60,395,145 (GRCm39) T2480A probably benign Het
Or2a52 A T 6: 43,144,192 (GRCm39) I67F probably benign Het
Or2y15 G A 11: 49,350,766 (GRCm39) G87R possibly damaging Het
Or4f47 T C 2: 111,972,359 (GRCm39) I23T probably benign Het
Or4g17 C A 2: 111,209,982 (GRCm39) F212L probably benign Het
Or5k16 A G 16: 58,736,702 (GRCm39) F101L probably benign Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Ovgp1 A G 3: 105,893,912 (GRCm39) probably benign Het
Pcbp4 A T 9: 106,338,570 (GRCm39) Q59L possibly damaging Het
Prg4 G C 1: 150,330,510 (GRCm39) probably benign Het
Rad50 T A 11: 53,569,697 (GRCm39) I905L probably benign Het
Rp1l1 T C 14: 64,266,756 (GRCm39) S781P probably benign Het
Rps3 C T 7: 99,129,103 (GRCm39) R173H probably benign Het
Rtn3 T A 19: 7,412,450 (GRCm39) T86S probably damaging Het
Sdha A T 13: 74,482,510 (GRCm39) S268T probably benign Het
Sgo2b A T 8: 64,381,767 (GRCm39) V355E possibly damaging Het
Sh3glb2 T C 2: 30,245,300 (GRCm39) T60A probably damaging Het
Slc26a3 A C 12: 31,514,719 (GRCm39) Y513S probably damaging Het
Slc35b2 T C 17: 45,877,368 (GRCm39) V165A probably benign Het
Slco3a1 A G 7: 73,934,361 (GRCm39) W604R probably damaging Het
Tet2 A G 3: 133,175,238 (GRCm39) S1370P possibly damaging Het
Tmtc4 A T 14: 123,158,731 (GRCm39) probably null Het
Tsga13 A G 6: 30,889,198 (GRCm39) V18A probably benign Het
Ugt2a3 T C 5: 87,477,449 (GRCm39) T317A probably benign Het
Zcchc4 A T 5: 52,941,442 (GRCm39) D79V probably damaging Het
Other mutations in Mesd
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0118:Mesd UTSW 7 83,544,835 (GRCm39) missense probably damaging 1.00
R0295:Mesd UTSW 7 83,547,073 (GRCm39) nonsense probably null
R0761:Mesd UTSW 7 83,544,951 (GRCm39) missense probably damaging 1.00
R1465:Mesd UTSW 7 83,544,790 (GRCm39) missense probably benign 0.26
R1465:Mesd UTSW 7 83,544,790 (GRCm39) missense probably benign 0.26
R4499:Mesd UTSW 7 83,547,185 (GRCm39) missense probably benign 0.08
R4668:Mesd UTSW 7 83,544,964 (GRCm39) missense probably damaging 0.99
R5100:Mesd UTSW 7 83,546,977 (GRCm39) missense probably damaging 1.00
R5783:Mesd UTSW 7 83,544,883 (GRCm39) missense probably damaging 1.00
R7246:Mesd UTSW 7 83,541,420 (GRCm39) unclassified probably benign
R7286:Mesd UTSW 7 83,544,957 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2015-04-17