Incidental Mutation 'R5075:Stard7'
ID 386912
Institutional Source Beutler Lab
Gene Symbol Stard7
Ensembl Gene ENSMUSG00000027367
Gene Name StAR related lipid transfer domain containing 7
Synonyms
MMRRC Submission 042664-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R5075 (G1)
Quality Score 214
Status Validated
Chromosome 2
Chromosomal Location 127112138-127140852 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 127111879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000110374] [ENSMUST00000110375]
AlphaFold Q8R1R3
Predicted Effect probably benign
Transcript: ENSMUST00000110374
SMART Domains Protein: ENSMUSP00000106003
Gene: ENSMUSG00000027367

DomainStartEndE-ValueType
coiled coil region 11 39 N/A INTRINSIC
Blast:START 46 121 4e-42 BLAST
SCOP:d1ln1a_ 57 108 7e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110375
SMART Domains Protein: ENSMUSP00000106004
Gene: ENSMUSG00000027367

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 probably benign
Transcript: ENSMUST00000125049
SMART Domains Protein: ENSMUSP00000116374
Gene: ENSMUSG00000027367

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: ENSMUST00000131196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192976
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194123
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.3%
Validation Efficiency 100% (57/57)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,587,456 (GRCm39) F33S probably damaging Het
Atf7ip A G 6: 136,537,232 (GRCm39) D163G probably benign Het
Cep85 C A 4: 133,859,678 (GRCm39) D662Y probably damaging Het
Cntn6 T A 6: 104,809,991 (GRCm39) S558T probably damaging Het
Dnah8 T C 17: 30,958,731 (GRCm39) probably null Het
Dnah8 T A 17: 31,019,505 (GRCm39) N3859K probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dnajc21 G T 15: 10,461,963 (GRCm39) T146K probably benign Het
Ep400 T C 5: 110,833,351 (GRCm39) E1957G unknown Het
Esm1 A G 13: 113,349,892 (GRCm39) Y104C probably damaging Het
Fkbp15 T C 4: 62,239,266 (GRCm39) K613R probably damaging Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Gm5592 A G 7: 40,808,387 (GRCm39) probably benign Het
Hdac4 A G 1: 91,923,842 (GRCm39) S223P probably benign Het
Hypk A G 2: 121,286,111 (GRCm39) probably benign Het
Kpna1 T A 16: 35,829,722 (GRCm39) F70I probably damaging Het
Lrp2 A G 2: 69,296,102 (GRCm39) Y3336H probably benign Het
Mier1 A G 4: 102,996,670 (GRCm39) D99G probably benign Het
Muc4 T C 16: 32,754,794 (GRCm38) probably benign Het
Nup160 A G 2: 90,530,518 (GRCm39) E463G probably damaging Het
Or5b121 T A 19: 13,507,637 (GRCm39) M244K probably benign Het
Peg3 A T 7: 6,711,419 (GRCm39) C1268S probably damaging Het
Recql4 G A 15: 76,593,744 (GRCm39) P122L probably damaging Het
Rex2 A T 4: 147,142,151 (GRCm39) Q213L possibly damaging Het
Rnf25 A G 1: 74,634,803 (GRCm39) V73A probably benign Het
Sacm1l A G 9: 123,411,327 (GRCm39) D372G probably benign Het
Selplg T C 5: 113,958,045 (GRCm39) D87G probably benign Het
Sgsh G A 11: 119,237,594 (GRCm39) T340M probably benign Het
Slc4a3 A T 1: 75,534,012 (GRCm39) I1120F probably damaging Het
Snrnp40 T C 4: 130,282,375 (GRCm39) Y311H probably benign Het
Spata31e2 T C 1: 26,722,133 (GRCm39) K1016E probably damaging Het
Stat1 A T 1: 52,161,871 (GRCm39) K40M possibly damaging Het
Sun1 T C 5: 139,212,646 (GRCm39) probably null Het
Tet2 T A 3: 133,192,667 (GRCm39) Q589L probably benign Het
Tmc7 A T 7: 118,151,919 (GRCm39) probably null Het
Tmt1b A G 10: 128,796,549 (GRCm39) F87L probably damaging Het
Unc79 A T 12: 103,041,213 (GRCm39) I749F possibly damaging Het
Ust A G 10: 8,393,988 (GRCm39) F59S probably damaging Het
Wdr81 A T 11: 75,343,307 (GRCm39) D653E probably benign Het
Zfat A G 15: 68,052,079 (GRCm39) S572P probably benign Het
Zmynd15 G C 11: 70,352,946 (GRCm39) E143D probably damaging Het
Zzef1 A G 11: 72,749,170 (GRCm39) E886G probably damaging Het
Other mutations in Stard7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Stard7 APN 2 127,112,746 (GRCm39) missense probably damaging 1.00
IGL02172:Stard7 APN 2 127,132,792 (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
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
Predicted Primers PCR Primer
(F):5'- TCTCTGCAAGGTGTTCTTCG -3'
(R):5'- GCTAAGCCAAAGTGCTCCTC -3'

Sequencing Primer
(F):5'- CAAGGTGTTCTTCGGCCCTAAG -3'
(R):5'- AAAGTGCTCCTCCGCCC -3'
Posted On 2016-06-06