Incidental Mutation 'R5628:Stard5'
ID 441927
Institutional Source Beutler Lab
Gene Symbol Stard5
Ensembl Gene ENSMUSG00000046027
Gene Name StAR related lipid transfer domain containing 5
Synonyms 18B7-T7(GS), D7Ertd152e, 2310058G22Rik
MMRRC Submission 043167-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5628 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 83281225-83291536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83282355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 56 (I56T)
Ref Sequence ENSEMBL: ENSMUSP00000112781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075418] [ENSMUST00000117410]
AlphaFold Q9EPQ7
Predicted Effect probably benign
Transcript: ENSMUST00000075418
AA Change: I56T

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000074872
Gene: ENSMUSG00000046027
AA Change: I56T

DomainStartEndE-ValueType
START 7 210 8.57e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117410
AA Change: I56T

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112781
Gene: ENSMUSG00000046027
AA Change: I56T

DomainStartEndE-ValueType
Pfam:START 7 196 5.9e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146469
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208892
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins containing a steroidogenic acute regulatory-related lipid transfer (START) domain are often involved in the trafficking of lipids and cholesterol between diverse intracellular membranes. This gene is a member of the StarD subfamily that encodes START-related lipid transfer proteins. The protein encoded by this gene is a cholesterol transporter and is also able to bind and transport other sterol-derived molecules related to the cholesterol/bile acid biosynthetic pathways such as 25-hydroxycholesterol. Its expression is upregulated during endoplasmic reticulum (ER) stress. The protein is thought to act as a cytosolic sterol transporter that moves cholesterol between intracellular membranes such as from the cytoplasm to the ER and from the ER to the Golgi apparatus. Alternative splicing of this gene produces multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal vertebral transverse process morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A G 8: 41,208,747 (GRCm39) D671G probably benign Het
Ap3b1 A G 13: 94,613,556 (GRCm39) D685G unknown Het
Atp6v1h G A 1: 5,206,112 (GRCm39) W358* probably null Het
Atr T A 9: 95,756,279 (GRCm39) Y830* probably null Het
B3galnt2 A T 13: 14,169,737 (GRCm39) probably null Het
Casz1 T C 4: 149,030,553 (GRCm39) Y1191H probably damaging Het
Cdc40 T G 10: 40,727,049 (GRCm39) E169D probably benign Het
Cep55 C T 19: 38,058,396 (GRCm39) Q330* probably null Het
Clcn1 T C 6: 42,275,823 (GRCm39) V315A probably damaging Het
Cmya5 A G 13: 93,226,218 (GRCm39) F2957L probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dync1li2 T C 8: 105,147,224 (GRCm39) N490S possibly damaging Het
Ephb3 T C 16: 21,036,869 (GRCm39) Y111H probably damaging Het
Fam186a A C 15: 99,839,628 (GRCm39) H2205Q possibly damaging Het
Fat3 T C 9: 15,877,392 (GRCm39) Y3407C probably damaging Het
Fbxw8 A G 5: 118,230,622 (GRCm39) V393A probably damaging Het
Fnip1 A T 11: 54,394,459 (GRCm39) D965V probably benign Het
Gramd2a T C 9: 59,615,006 (GRCm39) M3T probably benign Het
Kctd15 T C 7: 34,339,720 (GRCm39) D283G probably damaging Het
Kif9 C T 9: 110,343,621 (GRCm39) R547* probably null Het
Map4 A G 9: 109,910,915 (GRCm39) T245A probably benign Het
Mindy4 C T 6: 55,237,579 (GRCm39) L385F probably damaging Het
Myo7b A G 18: 32,107,240 (GRCm39) C1252R probably benign Het
Myt1l T A 12: 29,861,620 (GRCm39) I134N unknown Het
Or5m10b T A 2: 85,699,149 (GRCm39) I71N probably damaging Het
Osgin2 T A 4: 15,998,998 (GRCm39) N208I probably benign Het
Polr2b G A 5: 77,461,063 (GRCm39) V29M probably damaging Het
Prdm15 T A 16: 97,600,823 (GRCm39) M812L probably damaging Het
Prr36 TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC 8: 4,266,273 (GRCm39) probably benign Het
Rev3l T A 10: 39,698,963 (GRCm39) N1153K probably damaging Het
Rnf17 A G 14: 56,724,409 (GRCm39) probably null Het
Rusc2 C T 4: 43,425,348 (GRCm39) T1151M probably damaging Het
Scrib T C 15: 75,921,389 (GRCm39) T30A possibly damaging Het
Sephs1 T C 2: 4,894,018 (GRCm39) I73T probably benign Het
Sf3b1 C T 1: 55,037,334 (GRCm39) A861T probably benign Het
Shq1 A G 6: 100,607,964 (GRCm39) W316R probably damaging Het
Slc26a5 T A 5: 22,021,974 (GRCm39) D484V probably benign Het
Smg1 C T 7: 117,753,924 (GRCm39) probably benign Het
Szt2 A G 4: 118,230,414 (GRCm39) V2653A unknown Het
Tmem217 A T 17: 29,745,430 (GRCm39) I100N probably damaging Het
Trpm2 C T 10: 77,748,470 (GRCm39) R1400Q probably benign Het
Vmn1r82 T G 7: 12,039,205 (GRCm39) N41K probably damaging Het
Zfp236 T C 18: 82,675,247 (GRCm39) D367G probably damaging Het
Zfyve1 A T 12: 83,621,663 (GRCm39) V244E probably benign Het
Other mutations in Stard5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01312:Stard5 APN 7 83,282,397 (GRCm39) missense probably damaging 1.00
IGL02100:Stard5 APN 7 83,289,653 (GRCm39) missense possibly damaging 0.71
IGL03374:Stard5 APN 7 83,285,980 (GRCm39) missense possibly damaging 0.83
R0038:Stard5 UTSW 7 83,285,951 (GRCm39) splice site probably benign
R0038:Stard5 UTSW 7 83,285,951 (GRCm39) splice site probably benign
R0631:Stard5 UTSW 7 83,281,965 (GRCm39) missense probably damaging 1.00
R2170:Stard5 UTSW 7 83,282,366 (GRCm39) missense probably benign 0.01
R2995:Stard5 UTSW 7 83,281,951 (GRCm39) missense probably damaging 1.00
R4616:Stard5 UTSW 7 83,282,489 (GRCm39) intron probably benign
R5372:Stard5 UTSW 7 83,282,428 (GRCm39) missense probably damaging 1.00
R7836:Stard5 UTSW 7 83,285,984 (GRCm39) missense probably damaging 1.00
R9249:Stard5 UTSW 7 83,281,253 (GRCm39) missense probably damaging 0.97
R9574:Stard5 UTSW 7 83,281,944 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAAGCTGTGTTCTGTGAGGAC -3'
(R):5'- TTGTTTCCTGCCAGGGACAAG -3'

Sequencing Primer
(F):5'- ACCTGTTTGTTTATGCAGGCTAGAG -3'
(R):5'- AAGGCTGGACTCGTCTGCATG -3'
Posted On 2016-11-08