Incidental Mutation 'R8246:Stard8'
ID 640782
Institutional Source Beutler Lab
Gene Symbol Stard8
Ensembl Gene ENSMUSG00000031216
Gene Name StAR related lipid transfer domain containing 8
Synonyms
MMRRC Submission 067852-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8246 (G1)
Quality Score 221.999
Status Validated
Chromosome X
Chromosomal Location 98046854-98118334 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 98109570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 155 (S155L)
Ref Sequence ENSEMBL: ENSMUSP00000044491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036606] [ENSMUST00000149999]
AlphaFold Q8K031
Predicted Effect probably benign
Transcript: ENSMUST00000036606
AA Change: S155L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044491
Gene: ENSMUSG00000031216
AA Change: S155L

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 probably benign
Transcript: ENSMUST00000149999
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (43/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 C A 7: 80,742,524 (GRCm39) D780E probably benign Het
Anln A C 9: 22,262,251 (GRCm39) S947A probably benign Het
Borcs6 C T 11: 68,951,377 (GRCm39) P252S probably benign Het
Ccdc42 C A 11: 68,478,122 (GRCm39) Q28K probably benign Het
Cp A G 3: 20,029,186 (GRCm39) I554M probably damaging Het
Dnm3 T G 1: 162,135,486 (GRCm39) D429A probably damaging Het
Dok5 A G 2: 170,642,813 (GRCm39) K37R probably benign Het
Dtwd2 A T 18: 49,831,492 (GRCm39) Y268N probably benign Het
Eif3a T C 19: 60,767,806 (GRCm39) E244G probably damaging Het
Elapor2 T C 5: 9,496,966 (GRCm39) V810A probably benign Het
Fam149a T C 8: 45,834,655 (GRCm39) E48G probably benign Het
Fam186a T A 15: 99,838,428 (GRCm39) E2605D unknown Het
Fhip1b T C 7: 105,038,867 (GRCm39) E124G probably damaging Het
Fyn T A 10: 39,405,525 (GRCm39) W264R probably damaging Het
Gm10024 T A 10: 77,547,369 (GRCm39) S27T unknown Het
Gpr157 C T 4: 150,186,753 (GRCm39) L294F possibly damaging Het
Kif6 C T 17: 50,065,542 (GRCm39) Q506* probably null Het
Klrh1 A G 6: 129,752,339 (GRCm39) probably benign Het
Loxhd1 A G 18: 77,451,242 (GRCm39) K707R possibly damaging Het
Mcub C A 3: 129,708,814 (GRCm39) V328L probably benign Het
Mdn1 C T 4: 32,657,284 (GRCm39) P12S probably benign Het
Mrgprb3 T G 7: 48,293,268 (GRCm39) L94F probably benign Het
Mycbp2 G T 14: 103,392,640 (GRCm39) P3307Q probably damaging Het
Nol8 T G 13: 49,808,724 (GRCm39) probably benign Het
Or11g2 A G 14: 50,855,841 (GRCm39) Y54C probably benign Het
Or4f57 T C 2: 111,790,483 (GRCm39) I312V probably benign Het
Pax5 T C 4: 44,570,027 (GRCm39) H286R probably benign Het
Rmdn2 T A 17: 79,979,966 (GRCm39) C381* probably null Het
Rpusd4 A G 9: 35,183,876 (GRCm39) I202V probably benign Het
Shank3 A T 15: 89,417,549 (GRCm39) R49W possibly damaging Het
Smurf2 T C 11: 106,721,870 (GRCm39) T542A probably benign Het
Sorcs2 G A 5: 36,219,932 (GRCm39) R371C probably damaging Het
Sqstm1 T C 11: 50,101,388 (GRCm39) H66R probably damaging Het
Svep1 A T 4: 58,091,889 (GRCm39) V1582D probably damaging Het
Tecrl T C 5: 83,427,156 (GRCm39) M331V probably damaging Het
Tinf2 T C 14: 55,917,042 (GRCm39) S368G probably damaging Het
Tmem184c A T 8: 78,336,814 (GRCm39) I14N probably damaging Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Ulk4 T C 9: 120,985,941 (GRCm39) *911W probably null Het
Unc13b T C 4: 43,175,954 (GRCm39) F2261L unknown Het
Vps16 G C 2: 130,280,793 (GRCm39) G241R probably damaging Het
Ythdc1 C T 5: 86,965,181 (GRCm39) T292I possibly damaging Het
Other mutations in Stard8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Stard8 APN X 98,112,941 (GRCm39) missense probably damaging 1.00
IGL01063:Stard8 APN X 98,116,694 (GRCm39) missense probably damaging 1.00
FR4304:Stard8 UTSW X 98,110,111 (GRCm39) unclassified probably benign
FR4976:Stard8 UTSW X 98,110,131 (GRCm39) unclassified probably benign
FR4976:Stard8 UTSW X 98,110,119 (GRCm39) unclassified probably benign
R4198:Stard8 UTSW X 98,110,114 (GRCm39) unclassified probably benign
R4641:Stard8 UTSW X 98,110,114 (GRCm39) unclassified probably benign
R8247:Stard8 UTSW X 98,109,570 (GRCm39) missense probably benign
RF002:Stard8 UTSW X 98,110,121 (GRCm39) nonsense probably null
RF010:Stard8 UTSW X 98,110,123 (GRCm39) unclassified probably benign
RF043:Stard8 UTSW X 98,110,133 (GRCm39) unclassified probably benign
RF043:Stard8 UTSW X 98,110,126 (GRCm39) unclassified probably benign
RF051:Stard8 UTSW X 98,110,130 (GRCm39) unclassified probably benign
RF055:Stard8 UTSW X 98,110,126 (GRCm39) unclassified probably benign
RF063:Stard8 UTSW X 98,110,130 (GRCm39) nonsense probably null
RF064:Stard8 UTSW X 98,110,133 (GRCm39) nonsense probably null
X0004:Stard8 UTSW X 98,110,289 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- TTCACCAGAGTCAGCAGACC -3'
(R):5'- CATGCACCAGATAGTCACGC -3'

Sequencing Primer
(F):5'- TCAGCAGACCAGCCCTTGTTAG -3'
(R):5'- CCTGCGTATAGGCTGAGGATGC -3'
Posted On 2020-07-28