Incidental Mutation 'IGL03383:Stard10'
ID420782
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stard10
Ensembl Gene ENSMUSG00000030688
Gene NameSTART domain containing 10
SynonymsNY-C0-28, Sdccag28, CGI-52, TISP-81, PC-TP2, PCTP2, Pctpl
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03383
Quality Score
Status
Chromosome7
Chromosomal Location101317086-101346626 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101342570 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 112 (K112E)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032927] [ENSMUST00000163799] [ENSMUST00000164479] [ENSMUST00000172630] [ENSMUST00000173270] [ENSMUST00000210192]
Predicted Effect probably benign
Transcript: ENSMUST00000032927
AA Change: K94E

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000032927
Gene: ENSMUSG00000030688
AA Change: K94E

DomainStartEndE-ValueType
START 21 226 8.7e-11 SMART
low complexity region 239 253 N/A INTRINSIC
low complexity region 270 284 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163799
AA Change: K167E

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129408
Gene: ENSMUSG00000030688
AA Change: K167E

DomainStartEndE-ValueType
low complexity region 2 38 N/A INTRINSIC
low complexity region 41 48 N/A INTRINSIC
START 94 299 8.7e-11 SMART
low complexity region 312 326 N/A INTRINSIC
low complexity region 343 357 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164479
AA Change: K94E

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133002
Gene: ENSMUSG00000030688
AA Change: K94E

DomainStartEndE-ValueType
START 21 226 8.7e-11 SMART
low complexity region 239 253 N/A INTRINSIC
low complexity region 270 284 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167888
AA Change: K112E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127962
Gene: ENSMUSG00000030688
AA Change: K112E

DomainStartEndE-ValueType
Pfam:START 46 223 8.5e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172630
AA Change: K94E

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000134138
Gene: ENSMUSG00000030688
AA Change: K94E

DomainStartEndE-ValueType
Pfam:START 27 150 8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172662
SMART Domains Protein: ENSMUSP00000134156
Gene: ENSMUSG00000030688

DomainStartEndE-ValueType
Blast:START 35 78 8e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173270
AA Change: K94E

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133955
Gene: ENSMUSG00000030688
AA Change: K94E

DomainStartEndE-ValueType
Pfam:START 27 159 7.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174083
SMART Domains Protein: ENSMUSP00000134724
Gene: ENSMUSG00000030688

DomainStartEndE-ValueType
Pfam:START 6 157 4.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174140
AA Change: K23E

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000174291
AA Change: K85E

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133985
Gene: ENSMUSG00000030688
AA Change: K85E

DomainStartEndE-ValueType
low complexity region 6 13 N/A INTRINSIC
START 14 218 2.16e-6 SMART
low complexity region 231 245 N/A INTRINSIC
low complexity region 262 276 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209980
Predicted Effect probably benign
Transcript: ENSMUST00000210192
AA Change: K94E

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211610
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered bile acid homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl4 C T 4: 111,657,423 probably benign Het
Cit T C 5: 115,873,845 probably benign Het
Clmp A G 9: 40,774,441 N211S probably damaging Het
Cnot2 A G 10: 116,494,817 probably benign Het
Cntn6 A G 6: 104,776,457 probably benign Het
Dnajb9 C T 12: 44,208,313 probably benign Het
Ece2 T A 16: 20,633,097 N411K possibly damaging Het
Fam208a A G 14: 27,441,961 I235V possibly damaging Het
Fshr A G 17: 89,046,699 I77T possibly damaging Het
Fshr A G 17: 88,985,693 M519T probably damaging Het
Gm10654 G A 8: 70,932,131 noncoding transcript Het
Gm5093 A G 17: 46,439,591 I170T probably benign Het
Meis3 A G 7: 16,183,819 K299R probably damaging Het
Nxf1 T C 19: 8,763,697 F15L probably damaging Het
Nxpe3 T C 16: 55,849,713 D343G probably benign Het
Olfr1246 A T 2: 89,590,312 Y268N probably benign Het
Polr3k A G 2: 181,866,027 T65A probably damaging Het
Preb A T 5: 30,958,321 W222R probably damaging Het
Psmd11 T C 11: 80,469,845 I56T probably damaging Het
Rtkn2 A G 10: 68,017,837 T232A probably damaging Het
Scaf11 T C 15: 96,420,183 probably null Het
Slc4a10 A T 2: 62,267,436 K493M probably damaging Het
Sugp1 A T 8: 70,069,567 probably benign Het
Tmem156 T C 5: 65,075,697 E139G probably damaging Het
Tubd1 C T 11: 86,549,008 probably benign Het
Uap1 G A 1: 170,158,891 T174M probably damaging Het
Vmn2r13 T C 5: 109,156,532 T678A probably damaging Het
Vmn2r84 A T 10: 130,386,687 C555S probably damaging Het
Vps13d T C 4: 145,168,319 probably null Het
Vps8 T C 16: 21,435,823 probably null Het
Wee1 A G 7: 110,139,692 N590S probably damaging Het
Zfp112 C A 7: 24,125,678 S357Y probably damaging Het
Zfp423 T A 8: 87,859,452 K48* probably null Het
Zscan4d A G 7: 11,162,765 V226A probably benign Het
Other mutations in Stard10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Stard10 APN 7 101321966 missense probably damaging 0.98
IGL01434:Stard10 APN 7 101321980 missense probably benign 0.43
IGL02815:Stard10 APN 7 101343998 missense probably benign 0.12
Ill_starred UTSW 7 101343136 splice site probably null
BB002:Stard10 UTSW 7 101342631 missense probably damaging 1.00
BB012:Stard10 UTSW 7 101342631 missense probably damaging 1.00
R1544:Stard10 UTSW 7 101344026 missense probably damaging 1.00
R3891:Stard10 UTSW 7 101343930 missense possibly damaging 0.49
R4612:Stard10 UTSW 7 101345670 missense possibly damaging 0.70
R5715:Stard10 UTSW 7 101321903 missense probably damaging 1.00
R6191:Stard10 UTSW 7 101343261 missense probably damaging 0.96
R7156:Stard10 UTSW 7 101346051 missense probably damaging 1.00
R7159:Stard10 UTSW 7 101343136 splice site probably null
R7174:Stard10 UTSW 7 101346019 missense probably damaging 0.96
R7719:Stard10 UTSW 7 101346113 missense not run
R7925:Stard10 UTSW 7 101342631 missense probably damaging 1.00
R8076:Stard10 UTSW 7 101343969 missense probably damaging 1.00
Posted On2016-08-02