Incidental Mutation 'IGL00507:Stard8'
ID5641
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stard8
Ensembl Gene ENSMUSG00000031216
Gene NameSTART domain containing 8
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00507
Quality Score
Status
ChromosomeX
Chromosomal Location99003248-99074728 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 99069335 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 649 (E649K)
Ref Sequence ENSEMBL: ENSMUSP00000044491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036606] [ENSMUST00000149999]
Predicted Effect probably damaging
Transcript: ENSMUST00000036606
AA Change: E649K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044491
Gene: ENSMUSG00000031216
AA Change: E649K

DomainStartEndE-ValueType
low complexity region 44 65 N/A INTRINSIC
low complexity region 72 90 N/A INTRINSIC
low complexity region 288 299 N/A INTRINSIC
coiled coil region 334 372 N/A INTRINSIC
low complexity region 396 417 N/A INTRINSIC
low complexity region 457 464 N/A INTRINSIC
RhoGAP 579 770 1.97e-56 SMART
START 814 1016 2.13e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145820
Predicted Effect probably benign
Transcript: ENSMUST00000149999
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of Rho GTPase activating proteins that contain a steroidogenic acute regulatory protein related lipid transfer domain. The encoded protein localizes to focal adhesions and may be involved in regulating cell morphology. This protein may also function as a tumor suppressor. [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 C T 9: 54,622,428 probably benign Het
Adgrb3 T A 1: 25,074,715 R1450S possibly damaging Het
Apc A G 18: 34,316,926 I2258V probably benign Het
Atxn2l C A 7: 126,496,584 A374S possibly damaging Het
Cacna1a T A 8: 84,571,208 Y1182* probably null Het
Cc2d1b G T 4: 108,629,730 A647S probably damaging Het
Csn2 A G 5: 87,694,773 S116P probably benign Het
Eya4 G A 10: 23,157,536 Q163* probably null Het
Fam47c A T X: 78,738,325 D171V probably benign Het
Fhdc1 A T 3: 84,448,800 C446S probably damaging Het
Fkbp9 T A 6: 56,850,701 V169E probably damaging Het
Fras1 A T 5: 96,778,189 I3751F probably damaging Het
Gkn1 T C 6: 87,346,339 Y164C probably damaging Het
Hs3st5 T C 10: 36,832,922 I151T probably benign Het
Ighv8-6 A T 12: 115,165,852 S95T probably damaging Het
Loxhd1 A G 18: 77,332,567 I296V probably benign Het
Lrrc66 T C 5: 73,607,114 E862G probably benign Het
Ltbp3 T C 19: 5,756,016 V934A probably damaging Het
Mpp3 A T 11: 102,002,103 I501K possibly damaging Het
Mroh2b C T 15: 4,962,127 T1569I probably damaging Het
Nup133 A T 8: 123,918,967 Y626* probably null Het
Pak3 T A X: 143,789,333 N477K probably damaging Het
Plod3 A G 5: 136,996,176 H714R possibly damaging Het
Ppil1 T C 17: 29,251,701 N102S probably damaging Het
Rapgef6 A T 11: 54,664,109 R996* probably null Het
Scd3 G A 19: 44,235,834 D169N probably damaging Het
Sgo2a T A 1: 58,016,594 F646I probably damaging Het
Slc5a8 A G 10: 88,908,040 Y346C possibly damaging Het
Slc7a15 A T 12: 8,535,474 V49E probably damaging Het
Other mutations in Stard8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Stard8 APN X 99073088 missense probably damaging 1.00
FR4304:Stard8 UTSW X 99066505 unclassified probably benign
FR4976:Stard8 UTSW X 99066513 unclassified probably benign
FR4976:Stard8 UTSW X 99066525 unclassified probably benign
R4198:Stard8 UTSW X 99066508 unclassified probably benign
R4641:Stard8 UTSW X 99066508 unclassified probably benign
R8246:Stard8 UTSW X 99065964 missense probably benign
R8247:Stard8 UTSW X 99065964 missense probably benign
RF002:Stard8 UTSW X 99066515 nonsense probably null
RF010:Stard8 UTSW X 99066517 unclassified probably benign
RF043:Stard8 UTSW X 99066520 unclassified probably benign
RF043:Stard8 UTSW X 99066527 unclassified probably benign
RF051:Stard8 UTSW X 99066524 unclassified probably benign
RF055:Stard8 UTSW X 99066520 unclassified probably benign
RF063:Stard8 UTSW X 99066524 nonsense probably null
RF064:Stard8 UTSW X 99066527 nonsense probably null
X0004:Stard8 UTSW X 99066683 missense possibly damaging 0.58
Posted On2012-04-20