Incidental Mutation 'IGL01139:Slc12a9'
ID51182
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc12a9
Ensembl Gene ENSMUSG00000037344
Gene Namesolute carrier family 12 (potassium/chloride transporters), member 9
SynonymsCIP1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.226) question?
Stock #IGL01139
Quality Score
Status
Chromosome5
Chromosomal Location137314558-137333597 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 137322842 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 470 (M470I)
Ref Sequence ENSEMBL: ENSMUSP00000038106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039991]
Predicted Effect probably damaging
Transcript: ENSMUST00000039991
AA Change: M470I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038106
Gene: ENSMUSG00000037344
AA Change: M470I

DomainStartEndE-ValueType
Pfam:AA_permease 42 536 1.8e-114 PFAM
Pfam:SLC12 545 639 4.6e-13 PFAM
low complexity region 804 817 N/A INTRINSIC
low complexity region 845 866 N/A INTRINSIC
low complexity region 871 888 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141517
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A T 1: 125,405,885 I215N probably damaging Het
Ambn C T 5: 88,464,517 probably benign Het
Arhgef1 T A 7: 24,925,951 probably benign Het
Arid1a A C 4: 133,693,997 S832R unknown Het
Clca4a A T 3: 144,966,269 I304N probably damaging Het
Dmxl2 G A 9: 54,458,964 P274S probably damaging Het
Eif4enif1 T A 11: 3,221,143 D211E probably damaging Het
Eri2 A G 7: 119,786,737 probably null Het
Fhod3 C T 18: 25,066,344 P691S probably benign Het
Flnb A G 14: 7,945,989 S2465G probably damaging Het
Ftsj1 G A X: 8,246,592 R171C probably damaging Het
Glb1l3 G A 9: 26,818,227 T648I probably benign Het
Gm4222 T A 2: 90,148,545 probably benign Het
Gm438 A T 4: 144,777,689 Y297* probably null Het
Gm5475 G A 15: 100,424,215 probably benign Het
Jaml C A 9: 45,101,019 T268N possibly damaging Het
Kank3 G A 17: 33,817,401 G81E probably damaging Het
Lrba A G 3: 86,642,662 T217A possibly damaging Het
Ltn1 A G 16: 87,416,009 S555P probably benign Het
Map3k15 T A X: 160,072,879 M350K probably damaging Het
Mipol1 C A 12: 57,306,035 Y53* probably null Het
Mn1 A G 5: 111,421,449 D1095G probably damaging Het
Myh14 T C 7: 44,606,292 probably benign Het
Nrn1 A G 13: 36,730,216 C31R probably damaging Het
Nup210 A T 6: 91,030,097 L579H possibly damaging Het
Nxf2 T C X: 134,950,396 I578V probably benign Het
Obscn G A 11: 59,078,352 A172V probably damaging Het
Olfr1006 T G 2: 85,674,497 Y218S probably damaging Het
Olfr55 T A 17: 33,176,782 Y123N probably damaging Het
Phtf1 A G 3: 104,005,602 D748G probably damaging Het
Psd3 A T 8: 67,908,535 Y863N probably damaging Het
Psmc6 C T 14: 45,343,710 T321I probably benign Het
Rassf6 T C 5: 90,608,966 *31W probably null Het
Rictor A C 15: 6,778,268 K791Q probably damaging Het
Tex28 A T X: 74,151,224 M367K possibly damaging Het
Thnsl2 A T 6: 71,138,734 V163D probably damaging Het
Tmco3 G A 8: 13,319,887 R633Q possibly damaging Het
Trf A T 9: 103,223,604 V224D probably damaging Het
Ttc8 C T 12: 98,964,545 Q273* probably null Het
Usp9x A G X: 13,104,576 probably benign Het
Vmn2r117 A G 17: 23,477,804 W210R probably damaging Het
Vmn2r5 A G 3: 64,491,405 S718P probably benign Het
Vps13a T C 19: 16,640,625 D2932G probably damaging Het
Whamm T C 7: 81,595,914 L706P probably damaging Het
Yeats2 G A 16: 20,214,393 V45I probably damaging Het
Yipf3 G A 17: 46,250,457 probably null Het
Zeb1 T C 18: 5,705,061 V26A possibly damaging Het
Other mutations in Slc12a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Slc12a9 APN 5 137330938 splice site probably null
IGL01829:Slc12a9 APN 5 137327365 splice site probably benign
IGL02379:Slc12a9 APN 5 137321429 missense probably damaging 0.99
IGL02975:Slc12a9 APN 5 137322443 missense probably damaging 1.00
R0145:Slc12a9 UTSW 5 137315288 missense probably damaging 1.00
R0325:Slc12a9 UTSW 5 137322846 missense probably damaging 1.00
R0645:Slc12a9 UTSW 5 137315376 missense probably benign 0.01
R1004:Slc12a9 UTSW 5 137322524 missense probably damaging 1.00
R1646:Slc12a9 UTSW 5 137323149 missense probably damaging 1.00
R2280:Slc12a9 UTSW 5 137332212 missense probably damaging 0.99
R2425:Slc12a9 UTSW 5 137315597 missense probably damaging 1.00
R2909:Slc12a9 UTSW 5 137332201 missense probably benign
R3617:Slc12a9 UTSW 5 137332497 missense probably damaging 1.00
R4255:Slc12a9 UTSW 5 137321432 missense probably damaging 0.99
R4431:Slc12a9 UTSW 5 137321513 missense probably benign 0.05
R5384:Slc12a9 UTSW 5 137331014 missense probably damaging 1.00
R5665:Slc12a9 UTSW 5 137321403 missense possibly damaging 0.79
R6682:Slc12a9 UTSW 5 137327401 missense probably damaging 1.00
R6778:Slc12a9 UTSW 5 137315081 missense possibly damaging 0.85
R6977:Slc12a9 UTSW 5 137315813 missense probably damaging 1.00
R7366:Slc12a9 UTSW 5 137328623 nonsense probably null
R7489:Slc12a9 UTSW 5 137322820 missense probably damaging 0.96
Posted On2013-06-21