Incidental Mutation 'IGL03128:Slc10a7'
ID410207
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc10a7
Ensembl Gene ENSMUSG00000031684
Gene Namesolute carrier family 10 (sodium/bile acid cotransporter family), member 7
Synonyms2410193C02Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.849) question?
Stock #IGL03128
Quality Score
Status
Chromosome8
Chromosomal Location78509346-78734003 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 78525217 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 80 (T80K)
Ref Sequence ENSEMBL: ENSMUSP00000147396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034111] [ENSMUST00000209490] [ENSMUST00000209992] [ENSMUST00000210515] [ENSMUST00000210630] [ENSMUST00000211286]
Predicted Effect probably damaging
Transcript: ENSMUST00000034111
AA Change: T80K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034111
Gene: ENSMUSG00000031684
AA Change: T80K

DomainStartEndE-ValueType
Pfam:SBF_like 10 324 1.9e-82 PFAM
Pfam:SBF 44 224 2.9e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209490
AA Change: T80K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000209992
AA Change: T80K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000210515
AA Change: H52Q

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably damaging
Transcript: ENSMUST00000210630
AA Change: T80K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000211286
AA Change: T80K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211332
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox1 A T 11: 116,182,003 L114M probably damaging Het
Bahcc1 G A 11: 120,268,434 probably benign Het
Btrc T A 19: 45,513,520 I226N probably damaging Het
Cth C T 3: 157,921,035 G56D probably damaging Het
Dkk2 T C 3: 132,177,860 probably benign Het
Dock3 A T 9: 107,032,292 M271K probably benign Het
Fam78b T A 1: 167,078,941 L223Q probably damaging Het
Fgl2 A T 5: 21,373,293 M193L probably benign Het
Ifi205 A T 1: 174,015,086 V348E probably damaging Het
Igkv4-70 T A 6: 69,268,014 K74N probably benign Het
Kdm3b A T 18: 34,827,427 K1355M probably damaging Het
Ltn1 A T 16: 87,415,944 N576K probably benign Het
Ms4a4c A T 19: 11,417,641 probably null Het
Nfic T C 10: 81,406,191 T328A probably benign Het
Npat T A 9: 53,550,033 probably benign Het
Nxpe2 T C 9: 48,319,498 I524V probably benign Het
Orc5 G T 5: 22,516,773 D360E probably damaging Het
Pappa2 C T 1: 158,936,484 E486K probably benign Het
Pde9a C T 17: 31,459,910 H216Y possibly damaging Het
Polr2k C A 15: 36,174,191 P31Q probably damaging Het
Prkdc G T 16: 15,700,744 probably benign Het
Raver1 A T 9: 21,080,742 L385Q probably damaging Het
Smg1 T C 7: 118,203,059 K272R probably benign Het
Supt20 A G 3: 54,708,287 I200V probably benign Het
Tbc1d9 A G 8: 83,166,085 N4S probably benign Het
Tor1aip1 A G 1: 156,007,035 S356P probably damaging Het
Trpm3 A G 19: 22,914,465 Y903C probably damaging Het
Vmn2r71 T G 7: 85,619,587 F333V probably damaging Het
Other mutations in Slc10a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00802:Slc10a7 APN 8 78698580 splice site probably benign
IGL01589:Slc10a7 APN 8 78729740 missense probably damaging 0.98
IGL01868:Slc10a7 APN 8 78697336 splice site probably null
IGL02197:Slc10a7 APN 8 78515663 missense probably damaging 0.98
IGL02205:Slc10a7 APN 8 78697303 missense probably benign 0.04
R0123:Slc10a7 UTSW 8 78697158 splice site probably null
R0134:Slc10a7 UTSW 8 78697158 splice site probably null
R1973:Slc10a7 UTSW 8 78697333 critical splice donor site probably null
R2266:Slc10a7 UTSW 8 78509635 missense probably benign 0.02
R2362:Slc10a7 UTSW 8 78509632 missense probably damaging 0.99
R4756:Slc10a7 UTSW 8 78706950 critical splice donor site probably null
R5454:Slc10a7 UTSW 8 78686624 missense possibly damaging 0.71
R5753:Slc10a7 UTSW 8 78525299 critical splice donor site probably null
R6621:Slc10a7 UTSW 8 78515634 missense probably damaging 1.00
R7814:Slc10a7 UTSW 8 78698573 critical splice donor site probably null
R7977:Slc10a7 UTSW 8 78697214 missense probably benign 0.13
R7987:Slc10a7 UTSW 8 78697214 missense probably benign 0.13
Posted On2016-08-02