Incidental Mutation 'IGL02205:Slc10a7'
ID284431
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: 0.830) question?
Stock #IGL02205
Quality Score
Status
Chromosome8
Chromosomal Location78509346-78734003 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 78697303 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 203 (K203N)
Ref Sequence ENSEMBL: ENSMUSP00000147659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034111] [ENSMUST00000209490] [ENSMUST00000209992] [ENSMUST00000210515] [ENSMUST00000210630] [ENSMUST00000211286]
Predicted Effect probably benign
Transcript: ENSMUST00000034111
AA Change: K231N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000034111
Gene: ENSMUSG00000031684
AA Change: K231N

DomainStartEndE-ValueType
Pfam:SBF_like 10 324 1.9e-82 PFAM
Pfam:SBF 44 224 2.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209490
AA Change: K231N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000209992
AA Change: K203N

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
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 benign
Transcript: ENSMUST00000211286
AA Change: K231N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211332
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid T G 11: 117,835,156 L150R probably damaging Het
Ankrd27 T G 7: 35,616,939 D543E probably damaging Het
Anks1b T G 10: 90,071,094 L258V probably benign Het
Cacna1i T C 15: 80,372,951 F1087S probably benign Het
Chd2 A T 7: 73,441,717 I1592K probably benign Het
Cmip G A 8: 117,454,975 V674I probably damaging Het
Col4a2 C T 8: 11,431,305 Q826* probably null Het
Ctdsp1 C T 1: 74,393,834 A92V possibly damaging Het
Dnajc10 T A 2: 80,349,358 S745R possibly damaging Het
Dpp4 T C 2: 62,352,257 Y560C probably damaging Het
Fbxl6 A G 15: 76,537,341 M232T probably benign Het
Gm5414 A G 15: 101,625,869 F267L probably benign Het
Heatr5a A G 12: 51,877,337 I2031T probably damaging Het
Hmcn2 T G 2: 31,400,127 V2324G probably damaging Het
Hnmt A T 2: 24,019,145 N85K probably damaging Het
Kcng4 G T 8: 119,626,083 R363S probably damaging Het
Kif18a T C 2: 109,307,018 probably benign Het
Lrrc8b A T 5: 105,481,837 Y683F probably benign Het
Mepce G T 5: 137,784,495 T523K probably benign Het
Mroh1 T C 15: 76,437,239 V1040A possibly damaging Het
Myof A G 19: 37,924,635 Y1470H probably damaging Het
Olfr469 A G 7: 107,822,591 Y293H probably damaging Het
Otol1 T C 3: 70,018,596 S35P probably benign Het
P4htm T C 9: 108,581,962 D257G probably benign Het
Pcdhb15 A G 18: 37,473,957 T81A probably damaging Het
Polg2 T C 11: 106,779,120 E108G probably benign Het
Rfx7 T A 9: 72,607,650 H143Q probably damaging Het
Sf3b2 A G 19: 5,283,737 V611A probably benign Het
Slc12a5 T A 2: 164,996,479 V1046D probably benign Het
Tacc2 A T 7: 130,626,682 D1718V probably damaging Het
Unc79 T A 12: 103,079,001 I812N probably damaging Het
Vps13c A G 9: 67,883,454 Y338C probably damaging Het
Wdr17 T C 8: 54,696,300 Y31C probably damaging Het
Zfp654 A T 16: 64,785,966 N624K 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
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 On2015-04-16