Incidental Mutation 'R5481:Stard4'
ID 434363
Institutional Source Beutler Lab
Gene Symbol Stard4
Ensembl Gene ENSMUSG00000024378
Gene Name StAR related lipid transfer domain containing 4
Synonyms 9030213J02Rik, 4632419C16Rik
MMRRC Submission 043042-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5481 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 33332408-33346915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 33338298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 137 (C137W)
Ref Sequence ENSEMBL: ENSMUSP00000114109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025236] [ENSMUST00000118990] [ENSMUST00000119991]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025236
SMART Domains Protein: ENSMUSP00000025236
Gene: ENSMUSG00000024378

DomainStartEndE-ValueType
START 25 224 1.43e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118990
SMART Domains Protein: ENSMUSP00000114131
Gene: ENSMUSG00000024378

DomainStartEndE-ValueType
PDB:1JSS|B 1 110 5e-78 PDB
SCOP:d1jssa_ 24 110 3e-17 SMART
Blast:START 25 110 4e-58 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000119991
AA Change: C137W

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000114109
Gene: ENSMUSG00000024378
AA Change: C137W

DomainStartEndE-ValueType
PDB:1JSS|B 1 110 1e-76 PDB
SCOP:d1jssa_ 24 110 8e-17 SMART
Blast:START 25 110 8e-57 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141617
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.6%
  • 10x: 95.1%
  • 20x: 90.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD4 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased liver weight, body weight, and body length. Female mice homozygous for this allele exhibit decreased circulating cholesterol when fed a low cholesterol diet and altered bile composition when fed standard chow. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik A G 4: 109,362,759 (GRCm39) S187P probably damaging Het
Aass C A 6: 23,113,475 (GRCm39) V282L probably benign Het
Adh6a G T 3: 138,031,719 (GRCm39) V204F probably damaging Het
Adrm1b A G 3: 92,336,658 (GRCm39) S15P possibly damaging Het
Aspm A G 1: 139,384,799 (GRCm39) K148E possibly damaging Het
Atp12a A T 14: 56,610,846 (GRCm39) D330V possibly damaging Het
Barhl1 A G 2: 28,805,352 (GRCm39) Y114H probably damaging Het
BC106179 T A 16: 23,042,918 (GRCm39) probably benign Het
Cabin1 A G 10: 75,570,900 (GRCm39) L792P probably benign Het
Calcoco2 A G 11: 95,998,369 (GRCm39) V18A probably damaging Het
Chpf2 A T 5: 24,794,340 (GRCm39) H170L probably damaging Het
Chrna1 T A 2: 73,397,270 (GRCm39) I340F possibly damaging Het
Ckap5 A T 2: 91,402,792 (GRCm39) I690F possibly damaging Het
Col10a1 A G 10: 34,271,660 (GRCm39) H544R probably benign Het
Cyp2b19 A C 7: 26,466,246 (GRCm39) T350P probably damaging Het
Dgkq A G 5: 108,796,676 (GRCm39) probably null Het
Dnah1 A G 14: 31,030,828 (GRCm39) V443A possibly damaging Het
Erbb3 T C 10: 128,408,349 (GRCm39) D855G probably damaging Het
Fam3c T C 6: 22,321,357 (GRCm39) D138G probably benign Het
Fen1 A G 19: 10,178,022 (GRCm39) C141R probably damaging Het
Flnc G A 6: 29,441,216 (GRCm39) G390D probably damaging Het
Fnip1 C A 11: 54,393,470 (GRCm39) D635E probably benign Het
Fry A T 5: 150,183,784 (GRCm39) L17F probably benign Het
Fsip2 T C 2: 82,810,230 (GRCm39) I2183T probably benign Het
Gfpt1 T A 6: 87,027,951 (GRCm39) I19N probably damaging Het
Hus1b T C 13: 31,130,942 (GRCm39) D239G probably benign Het
Kif1a T C 1: 92,987,966 (GRCm39) K546R probably benign Het
Kmt2d A G 15: 98,759,886 (GRCm39) V1124A unknown Het
Krtap16-1 A G 11: 99,876,153 (GRCm39) I417T probably damaging Het
Manba A T 3: 135,230,317 (GRCm39) N297Y possibly damaging Het
Mblac1 A G 5: 138,193,078 (GRCm39) D140G probably damaging Het
Mlh1 T C 9: 111,058,905 (GRCm39) probably null Het
Morc1 T A 16: 48,381,848 (GRCm39) probably null Het
Morc3 C A 16: 93,659,543 (GRCm39) P449Q probably damaging Het
Mtr T C 13: 12,203,041 (GRCm39) probably null Het
Mylk T A 16: 34,741,974 (GRCm39) C829S probably benign Het
Myo1d A G 11: 80,553,921 (GRCm39) I520T possibly damaging Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nos1 A T 5: 118,005,819 (GRCm39) I180F probably benign Het
Ntsr1 C T 2: 180,183,313 (GRCm39) T341M possibly damaging Het
Or8b51 A T 9: 38,568,916 (GRCm39) F257L probably benign Het
P2rx7 A G 5: 122,818,883 (GRCm39) D435G possibly damaging Het
Peli2 C A 14: 48,490,090 (GRCm39) N136K probably damaging Het
Pigt C A 2: 164,348,342 (GRCm39) P429H probably damaging Het
Pik3r2 T C 8: 71,222,408 (GRCm39) I515V probably benign Het
Pkhd1l1 A G 15: 44,422,042 (GRCm39) Y3104C probably damaging Het
Ppp1r16a A C 15: 76,575,221 (GRCm39) E43A probably damaging Het
Ptpn18 T C 1: 34,510,744 (GRCm39) L260P possibly damaging Het
Scaf11 A T 15: 96,318,498 (GRCm39) S355R probably damaging Het
Sema4a A T 3: 88,360,347 (GRCm39) Y77* probably null Het
Serpinb9b T C 13: 33,222,076 (GRCm39) V230A possibly damaging Het
Sfswap T A 5: 129,591,882 (GRCm39) S300T probably damaging Het
Slc22a30 T C 19: 8,314,201 (GRCm39) N495S probably benign Het
Srcap G A 7: 127,131,369 (GRCm39) G836D probably damaging Het
Stat6 A G 10: 127,483,695 (GRCm39) probably null Het
Steap3 T C 1: 120,169,454 (GRCm39) D243G probably benign Het
Taf1c A G 8: 120,325,979 (GRCm39) S628P probably damaging Het
Unkl C T 17: 25,420,146 (GRCm39) Q13* probably null Het
Usp38 A G 8: 81,719,952 (GRCm39) S426P possibly damaging Het
Vmn2r8 T C 5: 108,949,636 (GRCm39) T404A probably benign Het
Washc1 T C 17: 66,425,860 (GRCm39) V425A probably benign Het
Zfyve9 A G 4: 108,501,546 (GRCm39) I590T probably damaging Het
Other mutations in Stard4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0462:Stard4 UTSW 18 33,338,202 (GRCm39) missense probably damaging 1.00
R1396:Stard4 UTSW 18 33,339,263 (GRCm39) missense probably damaging 0.99
R1577:Stard4 UTSW 18 33,338,151 (GRCm39) missense probably damaging 1.00
R5308:Stard4 UTSW 18 33,336,678 (GRCm39) missense probably damaging 1.00
R6161:Stard4 UTSW 18 33,342,109 (GRCm39) missense probably damaging 0.99
R6393:Stard4 UTSW 18 33,338,278 (GRCm39) missense probably benign 0.00
R7062:Stard4 UTSW 18 33,338,587 (GRCm39) splice site probably null
R7478:Stard4 UTSW 18 33,338,377 (GRCm39) missense unknown
R8805:Stard4 UTSW 18 33,336,749 (GRCm39) missense possibly damaging 0.93
X0065:Stard4 UTSW 18 33,342,125 (GRCm39) missense probably damaging 0.98
Z1088:Stard4 UTSW 18 33,336,773 (GRCm39) missense probably benign 0.00
Z1088:Stard4 UTSW 18 33,336,770 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGCCCACAGTATAGGAGAAATC -3'
(R):5'- AAATGTTGCCTGGACAGCTGTC -3'

Sequencing Primer
(F):5'- ATCAACAAACTCTCTCGGGG -3'
(R):5'- CAGTAGACCCGTATAGTTGCTTAC -3'
Posted On 2016-10-06