Incidental Mutation 'IGL01589:Slc10a7'
ID91526
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 #IGL01589
Quality Score
Status
Chromosome8
Chromosomal Location78509346-78734003 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78729740 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 296 (S296P)
Ref Sequence ENSEMBL: ENSMUSP00000147659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034111] [ENSMUST00000209490] [ENSMUST00000209992] [ENSMUST00000210515] [ENSMUST00000210630] [ENSMUST00000211286]
Predicted Effect probably damaging
Transcript: ENSMUST00000034111
AA Change: S324P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034111
Gene: ENSMUSG00000031684
AA Change: S324P

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: S282P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000209992
AA Change: S296P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210132
Predicted Effect probably benign
Transcript: ENSMUST00000210515
Predicted Effect probably benign
Transcript: ENSMUST00000210630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210703
Predicted Effect probably damaging
Transcript: ENSMUST00000211286
AA Change: S324P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,155,177 F307S probably damaging Het
Abcc6 A T 7: 46,002,672 probably benign Het
Adamts12 T A 15: 11,311,237 D1193E probably benign Het
Akap6 T A 12: 53,139,664 L1287H probably damaging Het
Ascl3 A G 7: 109,728,038 S25P probably benign Het
Brd2 A G 17: 34,117,042 S66P probably damaging Het
Cacna1i C A 15: 80,387,759 probably benign Het
Cdc5l T C 17: 45,404,676 Y670C probably damaging Het
Clybl T A 14: 122,371,422 I142N probably damaging Het
Cyp2c66 T C 19: 39,183,935 probably null Het
Dck C T 5: 88,774,236 probably benign Het
Dsg1b T C 18: 20,409,594 Y1053H probably damaging Het
Gm9912 T C 3: 149,185,350 D49G unknown Het
Gpr107 T C 2: 31,167,151 probably benign Het
Hsd3b7 T C 7: 127,802,864 F227S probably damaging Het
Lrrtm2 T A 18: 35,212,798 N484Y probably damaging Het
Muc19 A T 15: 91,870,501 noncoding transcript Het
Nodal G A 10: 61,418,397 R33Q probably benign Het
Olfr403 T C 11: 74,195,761 L86P probably damaging Het
Plcb4 A G 2: 135,967,118 I569V probably benign Het
Plekhg1 T C 10: 3,963,631 Y1118H probably benign Het
Polr2a T G 11: 69,741,194 E1015D probably benign Het
Recql5 A G 11: 115,894,669 F667S probably damaging Het
Scube1 T C 15: 83,612,553 Y749C probably damaging Het
Serpinb1c C A 13: 32,886,172 V136F probably damaging Het
Slain2 T C 5: 72,941,446 probably benign Het
Sspo C T 6: 48,451,178 R320W probably damaging Het
Usp16 G A 16: 87,479,183 A469T probably benign Het
Vmn2r102 A T 17: 19,678,804 L469F probably benign Het
Zfp772 A G 7: 7,205,524 F107S possibly damaging Het
Other mutations in Slc10a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00802:Slc10a7 APN 8 78698580 splice site probably benign
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
IGL03128:Slc10a7 APN 8 78525217 missense probably damaging 1.00
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 On2013-12-09