Incidental Mutation 'R4641:Stard8'
ID 351666
Institutional Source Beutler Lab
Gene Symbol Stard8
Ensembl Gene ENSMUSG00000031216
Gene Name StAR related lipid transfer domain containing 8
Synonyms
MMRRC Submission 041903-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4641 (G1)
Quality Score 101
Status Not validated
Chromosome X
Chromosomal Location 98046854-98118334 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) AGAGGAGGAGGAGGAGGAGGA to AGAGGAGGAGGAGGAGGA at 98110114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036606] [ENSMUST00000149999]
AlphaFold Q8K031
Predicted Effect probably benign
Transcript: ENSMUST00000036606
SMART Domains Protein: ENSMUSP00000044491
Gene: ENSMUSG00000031216

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G A 10: 79,841,615 (GRCm39) probably null Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Dsg3 T A 18: 20,653,615 (GRCm39) F54I probably benign Het
Ehbp1 G A 11: 22,045,892 (GRCm39) S619L probably benign Het
Eif1ad3 A G 12: 87,843,446 (GRCm39) Y31C probably damaging Het
Eif1ad5 A G 12: 87,946,852 (GRCm39) D98G probably benign Het
Erlec1 G A 11: 30,898,442 (GRCm39) Q10* probably null Het
Fbxw14 A G 9: 109,107,750 (GRCm39) probably null Het
Fhod1 C T 8: 106,056,224 (GRCm39) R1163H probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm4846 G A 1: 166,311,462 (GRCm39) P466S probably damaging Het
Ift122 A T 6: 115,865,726 (GRCm39) K339* probably null Het
Il6st T C 13: 112,625,064 (GRCm39) S227P probably damaging Het
Letmd1 A G 15: 100,375,708 (GRCm39) Y198C probably damaging Het
Map3k4 A T 17: 12,482,932 (GRCm39) L595Q probably damaging Het
Mdc1 C G 17: 36,168,361 (GRCm39) R1656G probably benign Het
Megf11 C T 9: 64,597,407 (GRCm39) S662L possibly damaging Het
Mrps25 T C 6: 92,160,881 (GRCm39) E25G probably benign Het
Myh2 G T 11: 67,085,520 (GRCm39) G1815C probably damaging Het
Myo15a A G 11: 60,393,867 (GRCm39) D2353G probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
P2rx5 A T 11: 73,058,390 (GRCm39) H275L possibly damaging Het
Pyroxd1 C G 6: 142,300,467 (GRCm39) S199* probably null Het
Rnf123 T C 9: 107,935,786 (GRCm39) D920G probably damaging Het
Slc44a2 A G 9: 21,258,178 (GRCm39) Y474C probably damaging Het
Slc9a4 T A 1: 40,646,285 (GRCm39) F439I probably damaging Het
Snap91 A G 9: 86,761,528 (GRCm39) V26A probably damaging Het
Spata31d1c C A 13: 65,182,862 (GRCm39) Q135K probably benign Het
Tlk2 T C 11: 105,166,809 (GRCm39) I669T probably benign Het
Tmem273 A G 14: 32,528,839 (GRCm39) D68G probably damaging Het
Ttc38 T C 15: 85,728,659 (GRCm39) S204P possibly damaging Het
Ttn T A 2: 76,617,155 (GRCm39) Y16403F probably damaging Het
Ttyh2 G T 11: 114,592,609 (GRCm39) W213L probably damaging Het
Ugt2a2 A T 5: 87,610,755 (GRCm39) D360E probably damaging Het
Vwa5b2 A T 16: 20,423,393 (GRCm39) H1102L probably damaging Het
Zbtb41 A T 1: 139,370,557 (GRCm39) T665S probably damaging Het
Zfp292 T C 4: 34,807,828 (GRCm39) I1739V probably 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
R8246:Stard8 UTSW X 98,109,570 (GRCm39) missense 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'- TGTACCCAGCTGAGCCTATAC -3'
(R):5'- GCAGTCGAGTTAGCTTCTTGC -3'

Sequencing Primer
(F):5'- CCTATACAGGCTGAAGCTGAGGC -3'
(R):5'- AGCCTGTACCAATGGTTCGAC -3'
Posted On 2015-10-08