Incidental Mutation 'R4499:Mesd'
ID 331752
Institutional Source Beutler Lab
Gene Symbol Mesd
Ensembl Gene ENSMUSG00000038503
Gene Name mesoderm development LRP chaperone
Synonyms msd, 2210015O11Rik, Mesdc2
MMRRC Submission 041752-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.579) question?
Stock # R4499 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 83533074-83549519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 83547185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 216 (R216Q)
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 benign
Transcript: ENSMUST00000094215
AA Change: R216Q

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000091768
Gene: ENSMUSG00000038503
AA Change: R216Q

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
Meta Mutation Damage Score 0.1032 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 92% (47/51)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,464,646 (GRCm39) W948R possibly damaging Het
Ache A C 5: 137,290,194 (GRCm39) M508L probably damaging Het
Adgrb2 A T 4: 129,886,454 (GRCm39) E198V probably damaging Het
Adgrl4 A G 3: 151,216,422 (GRCm39) N535S possibly damaging Het
Agbl3 T C 6: 34,834,533 (GRCm39) S906P probably benign Het
Akna T C 4: 63,313,278 (GRCm39) T282A probably benign Het
Arfgef2 G A 2: 166,727,734 (GRCm39) V1561M probably damaging Het
Arfgef3 T C 10: 18,484,091 (GRCm39) D1388G possibly damaging Het
Asnsd1 A G 1: 53,387,129 (GRCm39) V166A probably benign Het
Bank1 T C 3: 135,990,004 (GRCm39) I29V probably benign Het
Bpifb5 A T 2: 154,082,678 (GRCm39) I484F possibly damaging Het
Camta2 T C 11: 70,565,512 (GRCm39) E788G probably damaging Het
Ccdc18 T G 5: 108,376,826 (GRCm39) S1422R possibly damaging Het
Cdc42bpg C T 19: 6,370,585 (GRCm39) P1226L possibly damaging Het
Cep126 T C 9: 8,101,589 (GRCm39) N315S possibly damaging Het
Dcaf4 T A 12: 83,586,134 (GRCm39) L367Q probably damaging Het
Dcc A T 18: 71,680,388 (GRCm39) V616D probably benign Het
Dennd4a G A 9: 64,817,405 (GRCm39) D1680N possibly damaging Het
Dgkq C G 5: 108,797,527 (GRCm39) E788D possibly damaging Het
Dpep2 T C 8: 106,712,114 (GRCm39) E282G probably benign Het
Gm8221 T A 15: 77,510,245 (GRCm39) noncoding transcript Het
Ice1 T C 13: 70,757,146 (GRCm39) S280G possibly damaging Het
Lrrc2 A T 9: 110,791,713 (GRCm39) Q155L probably benign Het
Msh6 T A 17: 88,287,697 (GRCm39) N112K probably damaging Het
Myo15b A G 11: 115,781,778 (GRCm39) E307G probably benign Het
Nod1 T A 6: 54,920,981 (GRCm39) N446Y probably damaging Het
Nrap G A 19: 56,339,913 (GRCm39) T787I probably damaging Het
P2ry12 A G 3: 59,125,078 (GRCm39) I199T probably damaging Het
Prr11 T G 11: 86,989,533 (GRCm39) K279N possibly damaging Het
Psg25 C T 7: 18,258,816 (GRCm39) E287K possibly damaging Het
Rusc1 T C 3: 88,999,615 (GRCm39) S56G probably benign Het
Slc16a7 T C 10: 125,064,056 (GRCm39) N427S probably damaging Het
Slc47a1 T A 11: 61,250,355 (GRCm39) I341L probably benign Het
Slc9a8 T A 2: 167,266,113 (GRCm39) L30Q probably benign Het
Ssh2 T A 11: 77,283,893 (GRCm39) L49* probably null Het
Stard9 T A 2: 120,530,722 (GRCm39) D2326E probably benign Het
Thbs1 T C 2: 117,950,431 (GRCm39) I688T possibly damaging Het
Ttn T A 2: 76,746,822 (GRCm39) E4742D probably benign Het
Vps37b T C 5: 124,145,689 (GRCm39) I117V probably damaging Het
Xirp2 A T 2: 67,343,782 (GRCm39) M2008L probably benign Het
Zfp1005 T G 2: 150,111,362 (GRCm39) V684G possibly damaging Het
Zfp53 A G 17: 21,729,497 (GRCm39) E510G probably damaging Het
Zswim8 T A 14: 20,764,365 (GRCm39) S578R probably benign 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
R3894:Mesd UTSW 7 83,546,993 (GRCm39) missense probably damaging 1.00
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 PCR Primer
(F):5'- ATCTTCATGCTCCGGGATGG -3'
(R):5'- CATGGGAAGCCTTTTATACGGTAAC -3'

Sequencing Primer
(F):5'- GGAGCTATGCCTGGGAGATC -3'
(R):5'- CGGTAACTGTGATATTGACCAGATG -3'
Posted On 2015-07-21