Incidental Mutation 'R4478:Stard7'
ID 331344
Institutional Source Beutler Lab
Gene Symbol Stard7
Ensembl Gene ENSMUSG00000027367
Gene Name StAR related lipid transfer domain containing 7
Synonyms
MMRRC Submission 041735-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R4478 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 127112138-127140852 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127126179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 77 (L77Q)
Ref Sequence ENSEMBL: ENSMUSP00000106003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110374] [ENSMUST00000110375]
AlphaFold Q8R1R3
Predicted Effect probably damaging
Transcript: ENSMUST00000110374
AA Change: L77Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106003
Gene: ENSMUSG00000027367
AA Change: L77Q

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 damaging
Transcript: ENSMUST00000110375
AA Change: L155Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106004
Gene: ENSMUSG00000027367
AA Change: L155Q

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: L114Q
SMART Domains Protein: ENSMUSP00000116374
Gene: ENSMUSG00000027367
AA Change: L114Q

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
Meta Mutation Damage Score 0.1953 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 94% (46/49)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,185,171 (GRCm39) D509G probably benign Het
Ank1 C T 8: 23,610,594 (GRCm39) T1379I probably benign Het
Ap1m2 A G 9: 21,209,509 (GRCm39) V389A probably benign Het
Cdh15 A G 8: 123,591,415 (GRCm39) H517R probably benign Het
Chd9 T C 8: 91,760,659 (GRCm39) probably benign Het
Chp2 A G 7: 121,820,141 (GRCm39) D97G probably benign Het
Cpne5 T C 17: 29,428,450 (GRCm39) T118A probably damaging Het
D130040H23Rik C A 8: 69,755,155 (GRCm39) H187N possibly damaging Het
Dag1 G C 9: 108,085,929 (GRCm39) T404R probably damaging Het
Dnah3 T G 7: 119,671,086 (GRCm39) H599P probably benign Het
Eif4g1 G T 16: 20,497,593 (GRCm39) probably benign Het
Fabp9 T C 3: 10,262,166 (GRCm39) Y30C probably damaging Het
Fnbp1 G A 2: 30,995,266 (GRCm39) A56V probably damaging Het
Hid1 G A 11: 115,252,481 (GRCm39) A67V probably damaging Het
Il6ra T A 3: 89,797,597 (GRCm39) Y90F probably damaging Het
Kcnk18 T C 19: 59,223,676 (GRCm39) S274P probably damaging Het
Kndc1 A T 7: 139,500,600 (GRCm39) D655V probably damaging Het
Lrrk2 G A 15: 91,607,391 (GRCm39) A585T probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Myo9b A T 8: 71,743,725 (GRCm39) K262M probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or10aa1 C T 1: 173,870,182 (GRCm39) T222I probably benign Het
Or6c6b C T 10: 129,147,645 (GRCm39) L90F possibly damaging Het
Or8h10 G T 2: 86,808,562 (GRCm39) R193S probably benign Het
Plxna4 A T 6: 32,173,068 (GRCm39) C1288S possibly damaging Het
Ptpn22 T C 3: 103,809,380 (GRCm39) probably benign Het
Rab11fip3 C T 17: 26,235,057 (GRCm39) E619K probably damaging Het
Robo2 C A 16: 73,812,761 (GRCm39) R311L probably damaging Het
S2bpcox16 T C 12: 81,535,990 (GRCm39) probably benign Het
Sdad1 A G 5: 92,445,019 (GRCm39) M315T probably damaging Het
Slc39a12 T A 2: 14,424,990 (GRCm39) L407* probably null Het
Snap29 T C 16: 17,246,019 (GRCm39) V213A probably benign Het
Spef1l A T 7: 139,555,773 (GRCm39) probably null Het
Stat5b A G 11: 100,678,110 (GRCm39) Y668H probably benign Het
Tgfb2 A G 1: 186,364,696 (GRCm39) I266T probably damaging Het
Tmem87a C T 2: 120,199,824 (GRCm39) W440* probably null Het
Tnr T A 1: 159,712,326 (GRCm39) probably null Het
Ubl3 C T 5: 148,448,787 (GRCm39) S18N probably benign Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Vmn2r9 T C 5: 108,994,143 (GRCm39) E502G probably benign Het
Vps8 A T 16: 21,363,986 (GRCm39) probably benign Het
Vwa8 T A 14: 79,106,241 (GRCm39) D61E probably benign Het
Wdr73 T C 7: 80,542,969 (GRCm39) E213G probably benign Het
Zfp1 A G 8: 112,397,175 (GRCm39) R366G probably damaging Het
Zfp282 A T 6: 47,867,630 (GRCm39) R269* probably null 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
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
Predicted Primers PCR Primer
(F):5'- GCATGCTATTTCCAGCCACAC -3'
(R):5'- AAAAGCTTGCCGTCTGGGAG -3'

Sequencing Primer
(F):5'- GGATACTTCATTTCATGGACACC -3'
(R):5'- TTGCCGTCTGGGAGAGGAAAAC -3'
Posted On 2015-07-21