Incidental Mutation 'R0498:Stard13'
ID 40599
Institutional Source Beutler Lab
Gene Symbol Stard13
Ensembl Gene ENSMUSG00000016128
Gene Name StAR related lipid transfer domain containing 13
Synonyms GT650, DLC2
MMRRC Submission 038694-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0498 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 150960975-151157301 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 150975942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 742 (Y742F)
Ref Sequence ENSEMBL: ENSMUSP00000053232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062015] [ENSMUST00000110483] [ENSMUST00000202111]
AlphaFold Q923Q2
Predicted Effect probably damaging
Transcript: ENSMUST00000062015
AA Change: Y742F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: Y742F

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 damaging
Transcript: ENSMUST00000110483
AA Change: Y723F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: Y723F

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 possibly damaging
Transcript: ENSMUST00000202111
AA Change: Y605F

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
AA Change: Y605F

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
Meta Mutation Damage Score 0.3050 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 100% (68/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,718 (GRCm39) D220V probably benign Het
Adgrf2 A G 17: 43,025,206 (GRCm39) probably benign Het
Aldh18a1 A G 19: 40,562,716 (GRCm39) V219A probably benign Het
Anapc10 A G 8: 80,501,610 (GRCm39) D126G probably benign Het
Ap1m2 T C 9: 21,207,129 (GRCm39) *426W probably null Het
Arhgap21 A G 2: 20,867,928 (GRCm39) I865T probably damaging Het
Armc8 A G 9: 99,379,345 (GRCm39) V527A probably damaging Het
Asic5 A T 3: 81,913,778 (GRCm39) probably benign Het
Baz2b A C 2: 59,732,340 (GRCm39) probably benign Het
Bpifa5 T C 2: 154,009,169 (GRCm39) V237A probably damaging Het
Brip1 T A 11: 86,088,745 (GRCm39) K52I possibly damaging Het
Cacna1g T C 11: 94,350,685 (GRCm39) I387V probably damaging Het
Cbr4 A G 8: 61,948,107 (GRCm39) I135V probably benign Het
Ccdc66 C T 14: 27,222,197 (GRCm39) probably null Het
Cubn G A 2: 13,449,078 (GRCm39) T999M probably damaging Het
Dnai3 G T 3: 145,787,119 (GRCm39) D305E possibly damaging Het
Dpp8 C T 9: 64,953,077 (GRCm39) probably benign Het
Dsg1b T C 18: 20,542,390 (GRCm39) S966P possibly damaging Het
Erp27 T C 6: 136,896,862 (GRCm39) probably benign Het
Fat4 A T 3: 39,034,786 (GRCm39) I2813L probably benign Het
Fhod1 G A 8: 106,056,488 (GRCm39) R1101C probably damaging Het
Hoxc9 T C 15: 102,892,359 (GRCm39) S191P probably damaging Het
Izumo4 T C 10: 80,540,030 (GRCm39) probably null Het
Kalrn C T 16: 33,875,261 (GRCm39) D104N possibly damaging Het
Kank4 A T 4: 98,667,873 (GRCm39) D191E probably benign Het
Kbtbd11 A G 8: 15,077,605 (GRCm39) E68G probably benign Het
Kdr C T 5: 76,119,798 (GRCm39) V654I probably benign Het
Klra1 A T 6: 130,349,782 (GRCm39) probably null Het
Kmt2e T A 5: 23,683,970 (GRCm39) Y373* probably null Het
Lepr A T 4: 101,602,889 (GRCm39) M226L probably benign Het
Lrp1b T A 2: 41,348,417 (GRCm39) I800F probably benign Het
Lta4h T C 10: 93,307,833 (GRCm39) probably benign Het
Map3k7 T C 4: 31,974,814 (GRCm39) probably benign Het
Map4k4 G A 1: 40,029,338 (GRCm39) R371Q probably benign Het
Mgat4f A G 1: 134,318,610 (GRCm39) I461V possibly damaging Het
Mme A G 3: 63,253,487 (GRCm39) I444V probably damaging Het
Mms19 C T 19: 41,938,212 (GRCm39) R582Q possibly damaging Het
Mtss1 A G 15: 58,817,286 (GRCm39) S502P probably damaging Het
Myo3a G T 2: 22,467,441 (GRCm39) A232S possibly damaging Het
Nwd2 G T 5: 63,963,686 (GRCm39) W1090L probably damaging Het
Or4k15 A C 14: 50,364,750 (GRCm39) T239P probably damaging Het
Or8b12 G A 9: 37,657,550 (GRCm39) G40E probably damaging Het
Pcm1 G A 8: 41,746,806 (GRCm39) S1335N probably benign Het
Pdzph1 A G 17: 59,280,825 (GRCm39) F486L probably benign Het
Piezo2 T C 18: 63,235,245 (GRCm39) K552R possibly damaging Het
Plekhs1 T A 19: 56,469,536 (GRCm39) probably null Het
Pprc1 C T 19: 46,060,007 (GRCm39) Q1514* probably null Het
Ralgapa1 T C 12: 55,736,576 (GRCm39) T1831A possibly damaging Het
Rnpep G T 1: 135,193,090 (GRCm39) D455E probably damaging Het
Rpgrip1 T A 14: 52,368,771 (GRCm39) probably benign Het
Saxo1 A T 4: 86,397,133 (GRCm39) M135K possibly damaging Het
Serpina12 T C 12: 104,002,048 (GRCm39) T223A probably damaging Het
Serpinb3a A G 1: 106,974,880 (GRCm39) F218L probably damaging Het
Serpinb9f T G 13: 33,509,990 (GRCm39) probably benign Het
Spata33 A G 8: 123,948,662 (GRCm39) D98G probably benign Het
Tecta A G 9: 42,288,910 (GRCm39) Y552H probably damaging Het
Tie1 A T 4: 118,336,358 (GRCm39) probably benign Het
Tmem161a A G 8: 70,633,623 (GRCm39) T254A probably benign Het
Tmem30a G T 9: 79,681,376 (GRCm39) Y264* probably null Het
Tmem87a A T 2: 120,224,946 (GRCm39) I105K probably benign Het
Tnrc6b A T 15: 80,742,920 (GRCm39) D51V probably damaging Het
Trgc3 T A 13: 19,445,262 (GRCm39) M70K probably damaging Het
Trpc4 T C 3: 54,198,632 (GRCm39) F519L probably damaging Het
Ttn T C 2: 76,539,925 (GRCm39) T26027A probably damaging Het
Vmn1r198 A C 13: 22,539,144 (GRCm39) H121P probably damaging Het
Vps33a A G 5: 123,709,024 (GRCm39) F64L probably benign Het
Zfp1008 T C 13: 62,755,201 (GRCm39) N39S probably damaging Het
Zfp994 A T 17: 22,419,882 (GRCm39) C356S 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
IGL02827:Stard13 APN 5 150,986,591 (GRCm39) missense probably benign 0.07
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
Predicted Primers PCR Primer
(F):5'- TGACACAGAGATGTCCATAGCAAACTG -3'
(R):5'- TTGAGCTAGGATAGACTCCCAGCTCC -3'

Sequencing Primer
(F):5'- tcacagaggagcatagttcag -3'
(R):5'- AGCTCCCCAAGTCCTGG -3'
Posted On 2013-05-23