Incidental Mutation 'IGL01121:Slc10a4'
ID51147
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc10a4
Ensembl Gene ENSMUSG00000029219
Gene Namesolute carrier family 10 (sodium/bile acid cotransporter family), member 4
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01121
Quality Score
Status
Chromosome5
Chromosomal Location73006883-73012955 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73007586 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 174 (C174R)
Ref Sequence ENSEMBL: ENSMUSP00000031127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031127] [ENSMUST00000201304]
Predicted Effect probably damaging
Transcript: ENSMUST00000031127
AA Change: C174R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031127
Gene: ENSMUSG00000029219
AA Change: C174R

DomainStartEndE-ValueType
low complexity region 6 21 N/A INTRINSIC
low complexity region 42 55 N/A INTRINSIC
low complexity region 59 74 N/A INTRINSIC
Pfam:SBF 111 290 1e-37 PFAM
transmembrane domain 360 382 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201304
SMART Domains Protein: ENSMUSP00000144062
Gene: ENSMUSG00000029219

DomainStartEndE-ValueType
Pfam:SBF 1 91 1.7e-8 PFAM
transmembrane domain 101 123 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit seizures and increased susceptibility to pharmacologically induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700046A07Rik G A 18: 62,755,148 noncoding transcript Het
4930432E11Rik A T 7: 29,574,001 noncoding transcript Het
Alg3 T C 16: 20,610,647 E31G probably damaging Het
Arhgap29 A G 3: 122,009,863 E764G probably damaging Het
Atp5j2 C A 5: 145,184,568 V68L probably benign Het
Birc6 T A 17: 74,631,038 I2645K probably benign Het
Capn11 A G 17: 45,639,132 S369P probably benign Het
Car4 A T 11: 84,964,346 probably null Het
Ccdc185 C T 1: 182,748,657 V156I probably benign Het
Cpsf2 G T 12: 101,988,706 E245D probably damaging Het
Dnah11 T C 12: 118,050,695 D2019G probably benign Het
Dscc1 A G 15: 55,082,325 probably benign Het
Dzip3 T C 16: 48,944,881 D490G probably benign Het
E2f8 G A 7: 48,867,821 Q745* probably null Het
Fat3 T A 9: 15,998,401 T2102S probably benign Het
Fgf7 C T 2: 126,088,232 probably benign Het
Fstl4 T C 11: 52,814,637 F47L probably benign Het
Gm15097 A T X: 149,804,328 R129S possibly damaging Het
Gm4297 C T X: 24,552,615 D200N probably benign Het
Itgb5 G T 16: 33,919,989 D490Y probably benign Het
Kansl1 A G 11: 104,335,596 S912P probably benign Het
Kcnq3 A T 15: 66,005,977 probably benign Het
Kctd6 A G 14: 8,222,656 H166R possibly damaging Het
Kel T C 6: 41,702,409 D140G probably benign Het
Lrif1 C A 3: 106,735,664 S177* probably null Het
Lrp1 A T 10: 127,583,853 C962* probably null Het
Lypd5 A T 7: 24,351,551 Y29F probably benign Het
Mmrn1 A G 6: 60,975,944 D403G possibly damaging Het
Nhsl1 T G 10: 18,511,710 V244G probably damaging Het
Olfr781 T C 10: 129,332,935 I18T probably benign Het
Ptprd A T 4: 75,954,201 probably benign Het
Rcan2 A T 17: 44,017,884 I69L probably damaging Het
Rprd2 A G 3: 95,776,550 L373P probably damaging Het
Tas2r134 C T 2: 51,627,989 T160I probably damaging Het
Tbc1d19 T A 5: 53,897,062 L464* probably null Het
Tmem45a2 C T 16: 57,040,790 D225N possibly damaging Het
Unc79 G A 12: 103,165,631 C2139Y probably damaging Het
Vmn2r101 G T 17: 19,589,674 G241C probably damaging Het
Vmn2r91 T C 17: 18,136,504 V811A possibly damaging Het
Wdr11 T C 7: 129,628,022 Y844H probably benign Het
Wdr70 T C 15: 7,873,174 K656E possibly damaging Het
Zfp579 C A 7: 4,993,247 C555F possibly damaging Het
Other mutations in Slc10a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Slc10a4 APN 5 73011920 missense probably damaging 0.98
IGL03324:Slc10a4 APN 5 73011943 missense probably damaging 1.00
R1727:Slc10a4 UTSW 5 73016148 unclassified probably benign
R1889:Slc10a4 UTSW 5 73012147 missense possibly damaging 0.91
R2071:Slc10a4 UTSW 5 73007497 missense probably damaging 1.00
R2091:Slc10a4 UTSW 5 73017139 unclassified probably benign
R2137:Slc10a4 UTSW 5 73007580 missense probably damaging 1.00
R2516:Slc10a4 UTSW 5 73008505 missense possibly damaging 0.62
R4723:Slc10a4 UTSW 5 73012055 missense probably damaging 1.00
R5728:Slc10a4 UTSW 5 73012334 missense probably damaging 0.99
R5838:Slc10a4 UTSW 5 73012030 missense probably benign 0.00
R6175:Slc10a4 UTSW 5 73012250 missense possibly damaging 0.60
R7375:Slc10a4 UTSW 5 73012307 missense probably benign 0.00
R7682:Slc10a4 UTSW 5 73007110 missense unknown
X0066:Slc10a4 UTSW 5 73008505 missense possibly damaging 0.62
Posted On2013-06-21