Incidental Mutation 'IGL01084:Mesp1'
ID51480
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mesp1
Ensembl Gene ENSMUSG00000030544
Gene Namemesoderm posterior 1
SynonymsbHLHc5
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01084
Quality Score
Status
Chromosome7
Chromosomal Location79792241-79793788 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79793083 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 149 (S149P)
Ref Sequence ENSEMBL: ENSMUSP00000032760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032760]
Predicted Effect probably benign
Transcript: ENSMUST00000032760
AA Change: S149P

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000032760
Gene: ENSMUSG00000030544
AA Change: S149P

DomainStartEndE-ValueType
low complexity region 43 70 N/A INTRINSIC
HLH 82 136 2.16e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206719
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for targeted null mutations die by embryonic day 10.5 with growth retardation and heart defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930412O13Rik A G 2: 9,883,073 probably benign Het
Aagab C A 9: 63,639,619 Q284K probably damaging Het
Adgrd1 A T 5: 129,139,592 N341I probably benign Het
Arhgap40 T C 2: 158,543,218 F457S probably damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Catsper1 G A 19: 5,337,772 V360M probably damaging Het
Cdc42bpa T A 1: 180,142,274 probably benign Het
Cep250 C T 2: 155,998,393 H2424Y probably benign Het
Cln3 T C 7: 126,575,254 E304G probably damaging Het
Eml2 T A 7: 19,190,738 C177* probably null Het
Epha5 G A 5: 84,071,087 R917* probably null Het
Gabra2 A G 5: 71,006,233 F244L probably damaging Het
Gars C A 6: 55,055,827 D261E probably benign Het
Keg1 A G 19: 12,714,612 K98E probably damaging Het
Kif13a A G 13: 46,750,634 probably benign Het
Matn1 A G 4: 130,951,934 K300E probably benign Het
Mmp10 T C 9: 7,505,650 V305A possibly damaging Het
Muc5b T C 7: 141,843,449 probably benign Het
Myof T C 19: 37,936,436 T1181A probably damaging Het
Olfr1161 T C 2: 88,025,003 S94P probably benign Het
Olfr1504 G T 19: 13,887,502 T236N probably damaging Het
Olfr398 A T 11: 73,984,527 L27Q probably damaging Het
Osbpl11 T C 16: 33,226,851 probably benign Het
Prune2 T C 19: 17,118,209 V359A probably benign Het
Ptch1 T A 13: 63,543,637 E267D probably damaging Het
Rbl2 A G 8: 91,122,313 E1049G probably damaging Het
Ruvbl2 A T 7: 45,422,523 probably null Het
Sec23b A G 2: 144,564,589 I101M possibly damaging Het
Srms A C 2: 181,206,384 probably null Het
Svep1 T A 4: 58,111,419 T1067S possibly damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tmem127 T C 2: 127,257,086 V180A probably damaging Het
Trpm7 A G 2: 126,846,072 probably null Het
Trpv3 G A 11: 73,294,000 probably null Het
Tti1 C T 2: 157,982,459 V1025I probably damaging Het
Vmn2r80 A G 10: 79,194,599 Y753C probably damaging Het
Vps13d A G 4: 145,154,955 L1350S probably benign Het
Zfp287 G T 11: 62,713,890 Y730* probably null Het
Zfp583 A G 7: 6,317,185 F276S probably damaging Het
Zfp638 T C 6: 83,944,798 Y636H probably benign Het
Other mutations in Mesp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0645:Mesp1 UTSW 7 79792580 missense possibly damaging 0.76
R0890:Mesp1 UTSW 7 79792935 missense probably benign 0.01
R4990:Mesp1 UTSW 7 79792921 missense probably damaging 0.99
R7136:Mesp1 UTSW 7 79793158 missense probably damaging 0.99
Posted On2013-06-21