Incidental Mutation 'R0761:Mesd'
ID 70089
Institutional Source Beutler Lab
Gene Symbol Mesd
Ensembl Gene ENSMUSG00000038503
Gene Name mesoderm development LRP chaperone
Synonyms msd, 2210015O11Rik, Mesdc2
MMRRC Submission 038941-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.622) question?
Stock # R0761 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 83533074-83549519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 83544951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 143 (A143S)
Ref Sequence ENSEMBL: ENSMUSP00000114218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094215] [ENSMUST00000130103]
AlphaFold Q9ERE7
Predicted Effect probably damaging
Transcript: ENSMUST00000094215
AA Change: A134S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091768
Gene: ENSMUSG00000038503
AA Change: A134S

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Mesd 43 202 4.5e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130103
AA Change: A143S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114218
Gene: ENSMUSG00000038503
AA Change: A143S

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 0.2142 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.7%
Validation Efficiency 100% (51/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,833 (GRCm39) Y133C probably benign Het
Adcy5 G A 16: 35,091,195 (GRCm39) probably benign Het
Asb17 A G 3: 153,550,052 (GRCm39) K28R probably damaging Het
Bbs10 G T 10: 111,135,244 (GRCm39) C119F probably damaging Het
Camk2g G A 14: 20,816,280 (GRCm39) Q119* probably null Het
Cdh18 A T 15: 23,226,838 (GRCm39) I46L possibly damaging Het
Cimip2a T C 2: 25,110,135 (GRCm39) probably benign Het
Clmn T A 12: 104,747,817 (GRCm39) N577Y probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crocc T C 4: 140,774,387 (GRCm39) E63G probably benign Het
Crocc T C 4: 140,757,087 (GRCm39) T965A probably benign Het
Cryzl2 A G 1: 157,293,294 (GRCm39) I132V probably benign Het
Csgalnact2 T C 6: 118,103,073 (GRCm39) probably benign Het
Ctr9 T C 7: 110,645,479 (GRCm39) S569P probably damaging Het
Cul3 A G 1: 80,255,203 (GRCm39) probably benign Het
Dcp2 G A 18: 44,543,300 (GRCm39) S286N probably benign Het
Dgkz C T 2: 91,775,696 (GRCm39) R189H probably benign Het
Dst A G 1: 34,221,848 (GRCm39) T2551A probably benign Het
Kcna4 T A 2: 107,126,417 (GRCm39) S384T probably benign Het
Klhl17 T C 4: 156,317,204 (GRCm39) probably null Het
Kmt2e C A 5: 23,708,032 (GRCm39) S1865* probably null Het
L3mbtl1 G A 2: 162,807,967 (GRCm39) R534H probably damaging Het
Lmnb2 A T 10: 80,742,088 (GRCm39) M1K probably null Het
Lrp1b T C 2: 41,075,947 (GRCm39) D1784G probably damaging Het
Lrrc34 A G 3: 30,685,425 (GRCm39) probably null Het
Megf10 C A 18: 57,421,048 (GRCm39) Y895* probably null Het
Mfap3l G T 8: 61,124,615 (GRCm39) V286L possibly damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Nek1 T A 8: 61,542,489 (GRCm39) D717E probably benign Het
Nudt12 A T 17: 59,318,064 (GRCm39) D60E probably benign Het
Nup205 C T 6: 35,173,363 (GRCm39) probably benign Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2j3 A T 17: 38,616,282 (GRCm39) H23Q probably benign Het
Or4a75 T C 2: 89,448,179 (GRCm39) D119G probably damaging Het
Or5w19 C T 2: 87,698,880 (GRCm39) P182S possibly damaging Het
Pacs2 T A 12: 113,023,688 (GRCm39) probably benign Het
Pcdha9 T A 18: 37,133,016 (GRCm39) L695* probably null Het
Pira12 A T 7: 3,896,978 (GRCm39) probably null Het
Pkd1l1 A G 11: 8,804,375 (GRCm39) S1739P probably damaging Het
Polr1e C A 4: 45,027,392 (GRCm39) D207E probably damaging Het
Polr3f T A 2: 144,376,327 (GRCm39) V142E probably damaging Het
Psma6 T A 12: 55,459,127 (GRCm39) W170R possibly damaging Het
Rev3l T C 10: 39,750,191 (GRCm39) Y3114H probably benign Het
Rps6ka5 C T 12: 100,537,141 (GRCm39) A530T probably damaging Het
Simc1 T C 13: 54,674,387 (GRCm39) Y912H probably damaging Het
Tnfrsf1b T C 4: 144,942,670 (GRCm39) D371G possibly damaging Het
Trank1 T C 9: 111,195,681 (GRCm39) V1235A probably damaging Het
Ttn T C 2: 76,577,102 (GRCm39) E24597G probably damaging Het
Ubr2 G A 17: 47,294,242 (GRCm39) P297L probably damaging Het
Unc5d A T 8: 29,186,560 (GRCm39) probably null Het
Xpo4 A G 14: 57,850,840 (GRCm39) F355L 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
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
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 PCR Primer
(F):5'- TGCTCCCTCTCTCCTGACAGAAAG -3'
(R):5'- AGGTCCTTGGAAAGACTGCCAAAAC -3'

Sequencing Primer
(F):5'- CTCTCTCCTGACAGAAAGATGATG -3'
(R):5'- cagccccagcacacatc -3'
Posted On 2013-09-30