Incidental Mutation 'IGL02172:Stard7'
ID 282909
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stard7
Ensembl Gene ENSMUSG00000027367
Gene Name StAR related lipid transfer domain containing 7
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # IGL02172
Quality Score
Status
Chromosome 2
Chromosomal Location 127112138-127140852 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 127132792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 220 (T220N)
Ref Sequence ENSEMBL: ENSMUSP00000106004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110375]
AlphaFold Q8R1R3
Predicted Effect probably damaging
Transcript: ENSMUST00000110375
AA Change: T220N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106004
Gene: ENSMUSG00000027367
AA Change: T220N

DomainStartEndE-ValueType
low complexity region 8 27 N/A INTRINSIC
low complexity region 60 73 N/A INTRINSIC
coiled coil region 89 117 N/A INTRINSIC
START 124 332 4.52e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123152
Predicted Effect unknown
Transcript: ENSMUST00000125049
AA Change: T255N
SMART Domains Protein: ENSMUSP00000116374
Gene: ENSMUSG00000027367
AA Change: T255N

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
coiled coil region 48 76 N/A INTRINSIC
Blast:START 86 129 1e-12 BLAST
Pfam:START 204 367 3.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154549
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Heterozygous KO results in exaggerated allergic response (lung inflammation, increased epithelial barrier permeability and airway responsiveness) and atopic dermatitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,341,817 (GRCm39) V1048A probably benign Het
Adgre1 C T 17: 57,785,879 (GRCm39) T875I probably damaging Het
Arhgef26 T C 3: 62,367,097 (GRCm39) V810A probably benign Het
Atf1 T A 15: 100,152,322 (GRCm39) V105E probably damaging Het
Bbs9 C T 9: 22,490,772 (GRCm39) T300I possibly damaging Het
Bltp1 T C 3: 37,059,022 (GRCm39) V3236A probably damaging Het
Brd7 G T 8: 89,078,452 (GRCm39) H226Q probably benign Het
Cadps T C 14: 12,705,681 (GRCm38) K238R probably damaging Het
Chordc1 A G 9: 18,213,388 (GRCm39) T80A possibly damaging Het
Clca4a A T 3: 144,676,155 (GRCm39) C126* probably null Het
Col24a1 A T 3: 145,020,723 (GRCm39) T365S probably benign Het
Crb1 C T 1: 139,164,965 (GRCm39) G1053D probably damaging Het
Creb3l4 A T 3: 90,150,082 (GRCm39) S20T probably benign Het
Cyp2c67 C T 19: 39,637,446 (GRCm39) C10Y possibly damaging Het
Dhdh A T 7: 45,125,041 (GRCm39) C294S probably damaging Het
Fam135a A G 1: 24,063,861 (GRCm39) probably null Het
Fsd1 G T 17: 56,297,244 (GRCm39) probably benign Het
Gatad2b A G 3: 90,262,978 (GRCm39) probably benign Het
Glb1l2 T C 9: 26,680,382 (GRCm39) D232G probably damaging Het
Gm10553 T C 1: 85,078,015 (GRCm39) L44P probably damaging Het
Hecw1 T C 13: 14,438,734 (GRCm39) Y883C probably damaging Het
Helq A G 5: 100,938,013 (GRCm39) F478L probably damaging Het
Ift172 T C 5: 31,438,681 (GRCm39) probably benign Het
Krtcap3 A C 5: 31,409,397 (GRCm39) T55P probably damaging Het
Megf6 A G 4: 154,355,149 (GRCm39) D1488G probably damaging Het
Mrpl1 T C 5: 96,379,574 (GRCm39) V203A probably damaging Het
Myh2 A T 11: 67,079,878 (GRCm39) D1084V possibly damaging Het
Necap2 T A 4: 140,805,621 (GRCm39) probably benign Het
Nemp1 A G 10: 127,528,868 (GRCm39) S191G probably benign Het
Nrip1 T C 16: 76,088,380 (GRCm39) D1059G probably damaging Het
Ntrk3 A T 7: 78,110,020 (GRCm39) probably benign Het
Or51e1 G A 7: 102,359,051 (GRCm39) R195H probably benign Het
Or51f1d A G 7: 102,700,582 (GRCm39) I26V probably benign Het
Prkdc T G 16: 15,627,623 (GRCm39) V3427G probably benign Het
Ptprn2 A T 12: 116,837,317 (GRCm39) probably benign Het
Ptprt A T 2: 161,397,422 (GRCm39) L1095H probably damaging Het
Ren1 T A 1: 133,286,771 (GRCm39) L300Q possibly damaging Het
Rgl3 A G 9: 21,888,134 (GRCm39) I460T probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Runx1t1 A C 4: 13,859,924 (GRCm39) Q265P probably benign Het
Sh3d21 A G 4: 126,046,153 (GRCm39) S282P probably benign Het
Slc39a13 T C 2: 90,893,505 (GRCm39) E318G possibly damaging Het
Srd5a3 T C 5: 76,295,556 (GRCm39) I82T probably benign Het
Tbx4 G A 11: 85,805,389 (GRCm39) G493R possibly damaging Het
Trerf1 A T 17: 47,628,743 (GRCm39) noncoding transcript Het
Trim59 T A 3: 68,944,810 (GRCm39) I177L probably benign Het
Trpm7 T C 2: 126,637,248 (GRCm39) M1789V possibly damaging Het
Tsc22d1 T C 14: 76,655,132 (GRCm39) V455A probably benign Het
Vmn2r118 C A 17: 55,931,598 (GRCm39) M25I probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wdr90 G A 17: 26,069,408 (GRCm39) T1233I probably benign Het
Zcchc2 G A 1: 105,928,664 (GRCm39) D308N probably benign Het
Zfp57 G T 17: 37,320,481 (GRCm39) V112L possibly damaging Het
Zfp874b A T 13: 67,622,135 (GRCm39) Y388N probably damaging Het
Other mutations in Stard7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Stard7 APN 2 127,112,746 (GRCm39) missense probably damaging 1.00
IGL03328:Stard7 APN 2 127,134,176 (GRCm39) splice site probably benign
R0078:Stard7 UTSW 2 127,134,127 (GRCm39) missense probably damaging 0.96
R0579:Stard7 UTSW 2 127,126,473 (GRCm39) missense probably damaging 1.00
R1607:Stard7 UTSW 2 127,137,406 (GRCm39) missense possibly damaging 0.69
R1836:Stard7 UTSW 2 127,137,480 (GRCm39) missense probably benign 0.30
R4478:Stard7 UTSW 2 127,126,179 (GRCm39) missense probably damaging 1.00
R4526:Stard7 UTSW 2 127,139,128 (GRCm39) missense probably benign
R5075:Stard7 UTSW 2 127,111,879 (GRCm39) unclassified probably benign
R5279:Stard7 UTSW 2 127,137,416 (GRCm39) missense probably damaging 1.00
R6394:Stard7 UTSW 2 127,126,161 (GRCm39) missense probably damaging 1.00
R6608:Stard7 UTSW 2 127,132,715 (GRCm39) missense probably damaging 1.00
R7108:Stard7 UTSW 2 127,137,414 (GRCm39) missense possibly damaging 0.69
R9284:Stard7 UTSW 2 127,132,956 (GRCm39) missense probably damaging 0.96
Z1176:Stard7 UTSW 2 127,139,186 (GRCm39) missense possibly damaging 0.86
Posted On 2015-04-16