Incidental Mutation 'IGL02294:Stard13'
ID 290140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stard13
Ensembl Gene ENSMUSG00000016128
Gene Name StAR related lipid transfer domain containing 13
Synonyms GT650, DLC2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02294
Quality Score
Status
Chromosome 5
Chromosomal Location 150960975-151157301 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 150986580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 310 (D310G)
Ref Sequence ENSEMBL: ENSMUSP00000106109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062015] [ENSMUST00000110483] [ENSMUST00000129088] [ENSMUST00000202111] [ENSMUST00000202365]
AlphaFold Q923Q2
Predicted Effect probably benign
Transcript: ENSMUST00000062015
AA Change: D310G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: D310G

DomainStartEndE-ValueType
Pfam:SAM_2 59 120 2.6e-6 PFAM
low complexity region 197 216 N/A INTRINSIC
low complexity region 322 340 N/A INTRINSIC
low complexity region 473 486 N/A INTRINSIC
low complexity region 612 624 N/A INTRINSIC
RhoGAP 693 884 2.37e-50 SMART
START 927 1129 2.08e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110483
AA Change: D310G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: D310G

DomainStartEndE-ValueType
PDB:2JW2|A 50 120 1e-37 PDB
low complexity region 197 216 N/A INTRINSIC
low complexity region 322 340 N/A INTRINSIC
low complexity region 473 486 N/A INTRINSIC
low complexity region 612 624 N/A INTRINSIC
RhoGAP 674 865 2.37e-50 SMART
START 908 1110 2.08e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129088
SMART Domains Protein: ENSMUSP00000116705
Gene: ENSMUSG00000016128

DomainStartEndE-ValueType
Blast:SAM 40 104 6e-32 BLAST
PDB:2JW2|A 42 104 8e-33 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201680
Predicted Effect probably benign
Transcript: ENSMUST00000202111
AA Change: D192G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
AA Change: D192G

DomainStartEndE-ValueType
low complexity region 79 98 N/A INTRINSIC
low complexity region 204 222 N/A INTRINSIC
low complexity region 355 368 N/A INTRINSIC
low complexity region 494 506 N/A INTRINSIC
RhoGAP 556 747 1.4e-52 SMART
START 790 992 1.4e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202385
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 protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit small body size, decreased weight, and reduced adipose tissue. Mice homozygous for another knock-out allele exhibit increased angiogenesis in matrigel plugs and implanted tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 A G 18: 65,439,146 (GRCm39) V749A possibly damaging Het
Col6a4 T C 9: 105,943,931 (GRCm39) D1181G probably benign Het
Crb1 A G 1: 139,162,520 (GRCm39) S1213P possibly damaging Het
D430041D05Rik A T 2: 104,085,351 (GRCm39) M1066K probably benign Het
Fasn G T 11: 120,701,102 (GRCm39) T1999N probably damaging Het
Flg2 C T 3: 93,111,053 (GRCm39) A1027V unknown Het
Gbp5 T A 3: 142,209,588 (GRCm39) V178E probably damaging Het
Hdac4 T C 1: 91,909,929 (GRCm39) D445G probably benign Het
Hps3 T C 3: 20,068,212 (GRCm39) E482G probably damaging Het
Impdh1 G A 6: 29,205,201 (GRCm39) A200V probably benign Het
Kdm2b T C 5: 123,099,537 (GRCm39) Y134C probably damaging Het
Ly6g T A 15: 75,030,413 (GRCm39) I77N possibly damaging Het
Oprk1 T G 1: 5,672,610 (GRCm39) M249R probably damaging Het
Or5ac21 T C 16: 59,123,975 (GRCm39) L153P probably damaging Het
Or5h17 T C 16: 58,820,428 (GRCm39) C127R probably damaging Het
Otud4 A G 8: 80,391,606 (GRCm39) probably benign Het
Slc16a4 T C 3: 107,208,384 (GRCm39) I298T probably benign Het
Sox21 A G 14: 118,472,950 (GRCm39) M33T probably benign Het
Speer4a1 T A 5: 26,243,240 (GRCm39) T82S probably benign Het
Trpm6 C A 19: 18,831,427 (GRCm39) Q1431K probably benign Het
Ufl1 T A 4: 25,259,281 (GRCm39) K446* probably null Het
Vmn2r19 A G 6: 123,306,937 (GRCm39) T482A probably benign Het
Other mutations in Stard13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00639:Stard13 APN 5 150,965,704 (GRCm39) missense probably damaging 1.00
IGL01362:Stard13 APN 5 151,113,417 (GRCm39) missense probably benign 0.05
IGL01588:Stard13 APN 5 150,968,702 (GRCm39) missense probably damaging 1.00
IGL01947:Stard13 APN 5 150,986,309 (GRCm39) missense probably damaging 1.00
IGL02713:Stard13 APN 5 150,965,651 (GRCm39) nonsense probably null
IGL02746:Stard13 APN 5 150,970,322 (GRCm39) splice site probably benign
IGL02827:Stard13 APN 5 150,986,591 (GRCm39) missense probably benign 0.07
R0498:Stard13 UTSW 5 150,975,942 (GRCm39) missense probably damaging 1.00
R1427:Stard13 UTSW 5 150,969,456 (GRCm39) missense probably damaging 0.99
R1785:Stard13 UTSW 5 150,968,633 (GRCm39) missense probably damaging 1.00
R1857:Stard13 UTSW 5 151,018,903 (GRCm39) missense probably damaging 1.00
R1858:Stard13 UTSW 5 151,018,903 (GRCm39) missense probably damaging 1.00
R2130:Stard13 UTSW 5 150,968,633 (GRCm39) missense probably damaging 1.00
R2131:Stard13 UTSW 5 150,968,633 (GRCm39) missense probably damaging 1.00
R2132:Stard13 UTSW 5 150,968,633 (GRCm39) missense probably damaging 1.00
R2133:Stard13 UTSW 5 150,968,633 (GRCm39) missense probably damaging 1.00
R2258:Stard13 UTSW 5 150,963,196 (GRCm39) missense probably damaging 1.00
R3435:Stard13 UTSW 5 150,965,644 (GRCm39) missense probably damaging 1.00
R4080:Stard13 UTSW 5 151,016,294 (GRCm39) critical splice acceptor site probably null
R4081:Stard13 UTSW 5 151,016,294 (GRCm39) critical splice acceptor site probably null
R4082:Stard13 UTSW 5 151,016,294 (GRCm39) critical splice acceptor site probably null
R4233:Stard13 UTSW 5 150,986,164 (GRCm39) missense probably benign 0.00
R4288:Stard13 UTSW 5 150,968,642 (GRCm39) missense probably damaging 1.00
R4303:Stard13 UTSW 5 150,986,334 (GRCm39) missense possibly damaging 0.82
R4659:Stard13 UTSW 5 150,986,253 (GRCm39) missense probably benign 0.01
R4695:Stard13 UTSW 5 150,984,280 (GRCm39) missense probably benign 0.08
R4910:Stard13 UTSW 5 150,985,992 (GRCm39) missense probably benign
R5135:Stard13 UTSW 5 150,986,232 (GRCm39) nonsense probably null
R5338:Stard13 UTSW 5 150,983,063 (GRCm39) missense probably damaging 1.00
R5399:Stard13 UTSW 5 150,971,266 (GRCm39) nonsense probably null
R5546:Stard13 UTSW 5 150,969,366 (GRCm39) missense probably benign 0.03
R5685:Stard13 UTSW 5 150,986,592 (GRCm39) missense possibly damaging 0.78
R5771:Stard13 UTSW 5 151,113,476 (GRCm39) missense probably damaging 1.00
R6034:Stard13 UTSW 5 151,018,965 (GRCm39) splice site probably null
R6034:Stard13 UTSW 5 151,018,965 (GRCm39) splice site probably null
R6141:Stard13 UTSW 5 150,965,707 (GRCm39) missense probably damaging 1.00
R6171:Stard13 UTSW 5 151,016,227 (GRCm39) missense probably damaging 1.00
R6296:Stard13 UTSW 5 150,986,138 (GRCm39) missense probably damaging 1.00
R6326:Stard13 UTSW 5 150,970,384 (GRCm39) missense possibly damaging 0.95
R6508:Stard13 UTSW 5 150,986,754 (GRCm39) missense probably benign 0.06
R7252:Stard13 UTSW 5 150,986,634 (GRCm39) missense probably benign 0.01
R7318:Stard13 UTSW 5 150,986,038 (GRCm39) nonsense probably null
R7459:Stard13 UTSW 5 150,971,064 (GRCm39) missense probably damaging 1.00
R7571:Stard13 UTSW 5 150,982,967 (GRCm39) missense probably damaging 0.97
R7696:Stard13 UTSW 5 150,984,267 (GRCm39) missense probably damaging 0.99
R7809:Stard13 UTSW 5 151,113,489 (GRCm39) missense probably damaging 0.98
R7962:Stard13 UTSW 5 150,975,838 (GRCm39) missense probably damaging 0.99
R7970:Stard13 UTSW 5 150,986,726 (GRCm39) missense possibly damaging 0.83
R8103:Stard13 UTSW 5 150,970,435 (GRCm39) missense possibly damaging 0.92
R8113:Stard13 UTSW 5 150,986,970 (GRCm39) missense probably damaging 0.99
R8263:Stard13 UTSW 5 151,157,106 (GRCm39) missense possibly damaging 0.81
R8392:Stard13 UTSW 5 150,965,627 (GRCm39) missense probably benign 0.24
R8490:Stard13 UTSW 5 150,987,090 (GRCm39) missense probably damaging 1.00
R8726:Stard13 UTSW 5 150,986,607 (GRCm39) missense probably benign 0.28
R8896:Stard13 UTSW 5 150,986,115 (GRCm39) missense probably damaging 1.00
R8939:Stard13 UTSW 5 150,968,574 (GRCm39) critical splice donor site probably null
R8946:Stard13 UTSW 5 150,984,267 (GRCm39) missense probably damaging 1.00
R9157:Stard13 UTSW 5 151,157,152 (GRCm39) missense probably benign 0.00
R9257:Stard13 UTSW 5 150,985,956 (GRCm39) missense probably benign
R9387:Stard13 UTSW 5 151,113,483 (GRCm39) missense probably benign 0.27
R9586:Stard13 UTSW 5 150,985,832 (GRCm39) missense possibly damaging 0.90
R9708:Stard13 UTSW 5 150,986,961 (GRCm39) missense possibly damaging 0.82
R9771:Stard13 UTSW 5 150,983,048 (GRCm39) missense probably damaging 1.00
Z1177:Stard13 UTSW 5 150,986,799 (GRCm39) missense probably benign 0.18
Posted On 2015-04-16