Incidental Mutation 'R4080:Stard13'
ID 316810
Institutional Source Beutler Lab
Gene Symbol Stard13
Ensembl Gene ENSMUSG00000016128
Gene Name StAR related lipid transfer domain containing 13
Synonyms GT650, DLC2
MMRRC Submission 040856-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4080 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 150960975-151157301 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) C to A at 151016294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062015] [ENSMUST00000062015] [ENSMUST00000110483] [ENSMUST00000110483] [ENSMUST00000126770] [ENSMUST00000126770] [ENSMUST00000126770] [ENSMUST00000126770] [ENSMUST00000129088] [ENSMUST00000129088] [ENSMUST00000129088] [ENSMUST00000129088] [ENSMUST00000202111] [ENSMUST00000202111] [ENSMUST00000202111] [ENSMUST00000202111] [ENSMUST00000202365] [ENSMUST00000202365] [ENSMUST00000202365] [ENSMUST00000202365]
AlphaFold Q923Q2
Predicted Effect probably null
Transcript: ENSMUST00000062015
SMART Domains Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128

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 null
Transcript: ENSMUST00000062015
SMART Domains Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128

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 null
Transcript: ENSMUST00000110483
SMART Domains Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128

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 null
Transcript: ENSMUST00000110483
SMART Domains Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128

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 null
Transcript: ENSMUST00000126770
SMART Domains Protein: ENSMUSP00000122468
Gene: ENSMUSG00000016128

DomainStartEndE-ValueType
Pfam:SAM_2 44 105 7.6e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000126770
SMART Domains Protein: ENSMUSP00000122468
Gene: ENSMUSG00000016128

DomainStartEndE-ValueType
Pfam:SAM_2 44 105 7.6e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000126770
SMART Domains Protein: ENSMUSP00000122468
Gene: ENSMUSG00000016128

DomainStartEndE-ValueType
Pfam:SAM_2 44 105 7.6e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000126770
SMART Domains Protein: ENSMUSP00000122468
Gene: ENSMUSG00000016128

DomainStartEndE-ValueType
Pfam:SAM_2 44 105 7.6e-8 PFAM
Predicted Effect probably null
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 probably null
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 probably null
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 probably null
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: ENSMUST00000146814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201680
Predicted Effect probably null
Transcript: ENSMUST00000202111
SMART Domains Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128

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 null
Transcript: ENSMUST00000202111
SMART Domains Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128

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 null
Transcript: ENSMUST00000202111
SMART Domains Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128

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 null
Transcript: ENSMUST00000202111
SMART Domains Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128

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 null
Transcript: ENSMUST00000202365
Predicted Effect probably null
Transcript: ENSMUST00000202365
Predicted Effect probably null
Transcript: ENSMUST00000202365
Predicted Effect probably null
Transcript: ENSMUST00000202365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202866
Meta Mutation Damage Score 0.9489 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,109,497 (GRCm39) D324E possibly damaging Het
Adam7 T C 14: 68,757,988 (GRCm39) T245A probably benign Het
Adgrf3 G A 5: 30,402,367 (GRCm39) Q554* probably null Het
Aim2 T C 1: 173,287,417 (GRCm39) probably null Het
Arhgef1 G T 7: 24,625,271 (GRCm39) D850Y probably damaging Het
Aspm C A 1: 139,398,493 (GRCm39) Q1024K probably damaging Het
C7 T C 15: 5,019,946 (GRCm39) S734G probably benign Het
Ccdc158 A T 5: 92,771,255 (GRCm39) S987T probably benign Het
Chrna2 C A 14: 66,380,873 (GRCm39) Y47* probably null Het
Chrna2 G T 14: 66,380,866 (GRCm39) G45V probably benign Het
Clec2g C A 6: 128,958,287 (GRCm39) Q117K probably damaging Het
Cntnap5a A G 1: 116,029,304 (GRCm39) S253G probably benign Het
Cttn T A 7: 144,011,461 (GRCm39) D116V probably damaging Het
Cyp2c40 A G 19: 39,790,973 (GRCm39) V286A probably benign Het
Dcbld2 T A 16: 58,285,736 (GRCm39) S632T probably damaging Het
Dscam A T 16: 96,484,972 (GRCm39) N1118K probably benign Het
Eif2a C T 3: 58,447,050 (GRCm39) T92M possibly damaging Het
Frmpd1 T A 4: 45,284,382 (GRCm39) C1068S probably benign Het
Fstl1 G A 16: 37,642,965 (GRCm39) V110I probably benign Het
Gpat2 T C 2: 127,275,542 (GRCm39) I465T probably damaging Het
Gpr137 C T 19: 6,917,791 (GRCm39) probably benign Het
Hgsnat A G 8: 26,436,371 (GRCm39) I561T probably benign Het
Ift74 T A 4: 94,541,149 (GRCm39) probably null Het
Ilf3 A G 9: 21,314,430 (GRCm39) probably null Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc41 C A 4: 115,937,743 (GRCm39) probably null Het
Myh11 C A 16: 14,041,923 (GRCm39) R700L possibly damaging Het
Myo16 A G 8: 10,612,240 (GRCm39) D1295G probably damaging Het
Myo5b A G 18: 74,873,559 (GRCm39) M1488V probably benign Het
Naip6 A T 13: 100,435,815 (GRCm39) Y903N probably damaging Het
Nek6 A G 2: 38,440,649 (GRCm39) H19R probably damaging Het
Nktr A C 9: 121,570,192 (GRCm39) T127P probably damaging Het
Noc4l A T 5: 110,797,738 (GRCm39) D335E probably benign Het
Nsd1 A G 13: 55,449,622 (GRCm39) D1993G probably damaging Het
Or1ad1 G A 11: 50,875,683 (GRCm39) D52N probably damaging Het
Or5h22 A T 16: 58,894,619 (GRCm39) F275I probably damaging Het
Pabpc2 A T 18: 39,908,583 (GRCm39) Q616L possibly damaging Het
Pcdhga4 A T 18: 37,818,832 (GRCm39) D127V probably damaging Het
Phrf1 T C 7: 140,839,633 (GRCm39) probably benign Het
Phtf2 T A 5: 21,018,294 (GRCm39) I16F probably damaging Het
Plekhg3 G T 12: 76,624,755 (GRCm39) R1200L probably benign Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Prorp G T 12: 55,351,398 (GRCm39) V236F possibly damaging Het
Prss12 A G 3: 123,279,134 (GRCm39) N404D probably benign Het
Ptch2 C G 4: 116,968,403 (GRCm39) A926G probably damaging Het
Ptpra T C 2: 30,333,317 (GRCm39) F6L probably damaging Het
Reck T C 4: 43,942,293 (GRCm39) I853T possibly damaging Het
Reep6 G A 10: 80,165,996 (GRCm39) probably benign Het
Rex2 T A 4: 147,143,154 (GRCm39) S547R probably benign Het
Rgs22 C T 15: 36,107,222 (GRCm39) E55K probably damaging Het
Rtl6 T C 15: 84,441,202 (GRCm39) T65A possibly damaging Het
Scarb1 G T 5: 125,354,859 (GRCm39) P491Q probably damaging Het
Scfd1 A G 12: 51,478,302 (GRCm39) S505G probably benign Het
Scube1 T G 15: 83,492,948 (GRCm39) Q904P probably damaging Het
Sis T C 3: 72,828,517 (GRCm39) Y1186C probably damaging Het
Spta1 A G 1: 174,041,632 (GRCm39) D1334G probably benign Het
Spty2d1 T C 7: 46,648,329 (GRCm39) E200G probably damaging Het
Sybu T C 15: 44,582,339 (GRCm39) K95R probably damaging Het
Trappc9 T A 15: 72,813,796 (GRCm39) D488V probably damaging Het
Txk G A 5: 72,858,006 (GRCm39) P381S probably damaging Het
Ubr2 A T 17: 47,299,648 (GRCm39) M198K probably benign Het
Unc5a A T 13: 55,152,294 (GRCm39) T786S possibly damaging Het
Unc93b1 G A 19: 3,991,959 (GRCm39) R231Q probably damaging Het
Wfdc1 T A 8: 120,410,532 (GRCm39) probably null Het
Zfp667 T G 7: 6,308,105 (GRCm39) C258G possibly damaging Het
Zfr G A 15: 12,162,319 (GRCm39) R823H 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
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
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
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
Predicted Primers PCR Primer
(F):5'- CAGTGACCACAATAAACGTATTTCC -3'
(R):5'- GCACTTACACTGCACTCTCAAG -3'

Sequencing Primer
(F):5'- CCACAATAAACGTATTTCCAAAGTTG -3'
(R):5'- GCACTCTCAAGAGCATTTTCTGTG -3'
Posted On 2015-05-15