Incidental Mutation 'IGL02827:Stard13'
ID 361254
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 # IGL02827
Quality Score
Status
Chromosome 5
Chromosomal Location 150960975-151157301 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 150986591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 188 (I188M)
Ref Sequence ENSEMBL: ENSMUSP00000144056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062015] [ENSMUST00000110483] [ENSMUST00000129088] [ENSMUST00000202111] [ENSMUST00000202365]
AlphaFold Q923Q2
Predicted Effect probably benign
Transcript: ENSMUST00000062015
AA Change: I306M

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: I306M

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: I306M

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: I306M

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: I188M

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
AA Change: I188M

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 noncoding transcript
Transcript: ENSMUST00000202385
Predicted Effect probably benign
Transcript: ENSMUST00000202365
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,845,699 (GRCm39) S1554P probably damaging Het
Actn2 A T 13: 12,290,085 (GRCm39) L152Q probably damaging Het
Afg3l2 T C 18: 67,559,015 (GRCm39) I369V probably damaging Het
Aqp6 G A 15: 99,500,892 (GRCm39) G199S probably damaging Het
Asgr2 A G 11: 69,987,723 (GRCm39) I74V probably benign Het
Cebpz T C 17: 79,236,760 (GRCm39) R702G probably damaging Het
Cers1 C T 8: 70,774,177 (GRCm39) P145S probably damaging Het
Ddx21 T C 10: 62,434,153 (GRCm39) K202R probably benign Het
Gphn A T 12: 78,655,994 (GRCm39) D407V probably damaging Het
Hnf1b A G 11: 83,746,752 (GRCm39) K123E probably damaging Het
Ifitm10 T C 7: 141,882,317 (GRCm39) D151G unknown Het
Ifna14 T A 4: 88,489,601 (GRCm39) K145N probably benign Het
Lamc2 C T 1: 153,015,527 (GRCm39) C602Y probably damaging Het
Mrps25 T C 6: 92,152,163 (GRCm39) E119G probably benign Het
Or10ak9 A T 4: 118,726,157 (GRCm39) M60L probably damaging Het
Or1f12 A G 13: 21,721,528 (GRCm39) S216P probably benign Het
Pgm5 C A 19: 24,686,659 (GRCm39) R516L probably benign Het
Pramel31 C T 4: 144,090,331 (GRCm39) A457V probably damaging Het
Rmnd5b A G 11: 51,518,849 (GRCm39) L48P possibly damaging Het
Samd4b G A 7: 28,113,546 (GRCm39) R140C probably damaging Het
Sema3d T C 5: 12,635,085 (GRCm39) I717T probably benign Het
Sh3tc2 G A 18: 62,146,230 (GRCm39) S1203N probably benign Het
Smpdl3a A G 10: 57,678,592 (GRCm39) T132A probably damaging Het
Stk17b T C 1: 53,815,701 (GRCm39) T33A probably benign Het
Stxbp3 A T 3: 108,717,211 (GRCm39) I264N probably damaging Het
Tmem60 T A 5: 21,091,622 (GRCm39) F129Y probably damaging Het
Trpm1 A G 7: 63,868,908 (GRCm39) D404G probably null Het
Unc79 A C 12: 103,041,105 (GRCm39) S713R possibly damaging Het
Uox A C 3: 146,302,951 (GRCm39) probably benign Het
Vmn2r68 T C 7: 84,886,800 (GRCm39) D38G probably damaging Het
Vps13a T C 19: 16,618,998 (GRCm39) D2856G possibly damaging Het
Vsig10l T C 7: 43,114,293 (GRCm39) L205P probably damaging 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
IGL02294:Stard13 APN 5 150,986,580 (GRCm39) missense probably benign 0.19
IGL02713:Stard13 APN 5 150,965,651 (GRCm39) nonsense probably null
IGL02746:Stard13 APN 5 150,970,322 (GRCm39) splice site probably benign
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 2015-12-18