Incidental Mutation 'IGL01139:Slc12a9'
ID 51182
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc12a9
Ensembl Gene ENSMUSG00000037344
Gene Name solute carrier family 12 (potassium/chloride transporters), member 9
Synonyms CIP1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.445) question?
Stock # IGL01139
Quality Score
Status
Chromosome 5
Chromosomal Location 137312820-137331859 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 137321104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 470 (M470I)
Ref Sequence ENSEMBL: ENSMUSP00000038106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039991]
AlphaFold Q99MR3
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
Aadacl4fm5 A T 4: 144,504,259 (GRCm39) Y297* probably null Het
Actr3 A T 1: 125,333,622 (GRCm39) I215N probably damaging Het
Ambn C T 5: 88,612,376 (GRCm39) probably benign Het
Arhgef1 T A 7: 24,625,376 (GRCm39) probably benign Het
Arid1a A C 4: 133,421,308 (GRCm39) S832R unknown Het
Clca4a A T 3: 144,672,030 (GRCm39) I304N probably damaging Het
Dmxl2 G A 9: 54,366,248 (GRCm39) P274S probably damaging Het
Eif4enif1 T A 11: 3,171,143 (GRCm39) D211E probably damaging Het
Eri2 A G 7: 119,385,960 (GRCm39) probably null Het
Fhod3 C T 18: 25,199,401 (GRCm39) P691S probably benign Het
Flnb A G 14: 7,945,989 (GRCm38) S2465G probably damaging Het
Ftsj1 G A X: 8,112,831 (GRCm39) R171C probably damaging Het
Glb1l3 G A 9: 26,729,523 (GRCm39) T648I probably benign Het
Gm4222 T A 2: 89,978,889 (GRCm39) probably benign Het
Gm5475 G A 15: 100,322,096 (GRCm39) probably benign Het
Jaml C A 9: 45,012,317 (GRCm39) T268N possibly damaging Het
Kank3 G A 17: 34,036,375 (GRCm39) G81E probably damaging Het
Lrba A G 3: 86,549,969 (GRCm39) T217A possibly damaging Het
Ltn1 A G 16: 87,212,897 (GRCm39) S555P probably benign Het
Map3k15 T A X: 158,855,875 (GRCm39) M350K probably damaging Het
Mipol1 C A 12: 57,352,821 (GRCm39) Y53* probably null Het
Mn1 A G 5: 111,569,315 (GRCm39) D1095G probably damaging Het
Myh14 T C 7: 44,255,716 (GRCm39) probably benign Het
Nrn1 A G 13: 36,914,190 (GRCm39) C31R probably damaging Het
Nup210 A T 6: 91,007,079 (GRCm39) L579H possibly damaging Het
Nxf2 T C X: 133,851,145 (GRCm39) I578V probably benign Het
Obscn G A 11: 58,969,178 (GRCm39) A172V probably damaging Het
Or10h1b T A 17: 33,395,756 (GRCm39) Y123N probably damaging Het
Or9g4 T G 2: 85,504,841 (GRCm39) Y218S probably damaging Het
Phtf1 A G 3: 103,912,918 (GRCm39) D748G probably damaging Het
Psd3 A T 8: 68,361,187 (GRCm39) Y863N probably damaging Het
Psmc6 C T 14: 45,581,167 (GRCm39) T321I probably benign Het
Rassf6 T C 5: 90,756,825 (GRCm39) *31W probably null Het
Rictor A C 15: 6,807,749 (GRCm39) K791Q probably damaging Het
Tex28 A T X: 73,194,830 (GRCm39) M367K possibly damaging Het
Thnsl2 A T 6: 71,115,718 (GRCm39) V163D probably damaging Het
Tmco3 G A 8: 13,369,887 (GRCm39) R633Q possibly damaging Het
Trf A T 9: 103,100,803 (GRCm39) V224D probably damaging Het
Ttc8 C T 12: 98,930,804 (GRCm39) Q273* probably null Het
Usp9x A G X: 12,970,815 (GRCm39) probably benign Het
Vmn2r117 A G 17: 23,696,778 (GRCm39) W210R probably damaging Het
Vmn2r5 A G 3: 64,398,826 (GRCm39) S718P probably benign Het
Vps13a T C 19: 16,617,989 (GRCm39) D2932G probably damaging Het
Whamm T C 7: 81,245,662 (GRCm39) L706P probably damaging Het
Yeats2 G A 16: 20,033,143 (GRCm39) V45I probably damaging Het
Yipf3 G A 17: 46,561,383 (GRCm39) probably null Het
Zeb1 T C 18: 5,705,061 (GRCm39) V26A possibly damaging Het
Other mutations in Slc12a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Slc12a9 APN 5 137,329,200 (GRCm39) splice site probably null
IGL01829:Slc12a9 APN 5 137,325,627 (GRCm39) splice site probably benign
IGL02379:Slc12a9 APN 5 137,319,691 (GRCm39) missense probably damaging 0.99
IGL02975:Slc12a9 APN 5 137,320,705 (GRCm39) missense probably damaging 1.00
R0145:Slc12a9 UTSW 5 137,313,550 (GRCm39) missense probably damaging 1.00
R0325:Slc12a9 UTSW 5 137,321,108 (GRCm39) missense probably damaging 1.00
R0645:Slc12a9 UTSW 5 137,313,638 (GRCm39) missense probably benign 0.01
R1004:Slc12a9 UTSW 5 137,320,786 (GRCm39) missense probably damaging 1.00
R1646:Slc12a9 UTSW 5 137,321,411 (GRCm39) missense probably damaging 1.00
R2280:Slc12a9 UTSW 5 137,330,474 (GRCm39) missense probably damaging 0.99
R2425:Slc12a9 UTSW 5 137,313,859 (GRCm39) missense probably damaging 1.00
R2909:Slc12a9 UTSW 5 137,330,463 (GRCm39) missense probably benign
R3617:Slc12a9 UTSW 5 137,330,759 (GRCm39) missense probably damaging 1.00
R4255:Slc12a9 UTSW 5 137,319,694 (GRCm39) missense probably damaging 0.99
R4431:Slc12a9 UTSW 5 137,319,775 (GRCm39) missense probably benign 0.05
R5384:Slc12a9 UTSW 5 137,329,276 (GRCm39) missense probably damaging 1.00
R5665:Slc12a9 UTSW 5 137,319,665 (GRCm39) missense possibly damaging 0.79
R6682:Slc12a9 UTSW 5 137,325,663 (GRCm39) missense probably damaging 1.00
R6778:Slc12a9 UTSW 5 137,313,343 (GRCm39) missense possibly damaging 0.85
R6977:Slc12a9 UTSW 5 137,314,075 (GRCm39) missense probably damaging 1.00
R7366:Slc12a9 UTSW 5 137,326,885 (GRCm39) nonsense probably null
R7489:Slc12a9 UTSW 5 137,321,082 (GRCm39) missense probably damaging 0.96
R7491:Slc12a9 UTSW 5 137,321,082 (GRCm39) missense probably damaging 0.96
R7844:Slc12a9 UTSW 5 137,330,448 (GRCm39) missense probably damaging 1.00
R7955:Slc12a9 UTSW 5 137,323,808 (GRCm39) missense probably damaging 1.00
R8350:Slc12a9 UTSW 5 137,313,737 (GRCm39) missense probably benign 0.06
R8351:Slc12a9 UTSW 5 137,326,710 (GRCm39) missense probably benign
R8351:Slc12a9 UTSW 5 137,313,737 (GRCm39) missense probably benign 0.06
R8352:Slc12a9 UTSW 5 137,313,737 (GRCm39) missense probably benign 0.06
R8393:Slc12a9 UTSW 5 137,319,698 (GRCm39) missense probably damaging 1.00
R8450:Slc12a9 UTSW 5 137,313,737 (GRCm39) missense probably benign 0.06
R8451:Slc12a9 UTSW 5 137,326,710 (GRCm39) missense probably benign
R8451:Slc12a9 UTSW 5 137,313,737 (GRCm39) missense probably benign 0.06
R8452:Slc12a9 UTSW 5 137,313,737 (GRCm39) missense probably benign 0.06
R8475:Slc12a9 UTSW 5 137,313,737 (GRCm39) missense probably benign 0.06
R8712:Slc12a9 UTSW 5 137,325,916 (GRCm39) missense probably damaging 1.00
R8940:Slc12a9 UTSW 5 137,326,755 (GRCm39) missense probably benign
R8955:Slc12a9 UTSW 5 137,329,270 (GRCm39) missense probably damaging 0.98
R9730:Slc12a9 UTSW 5 137,325,732 (GRCm39) missense probably benign 0.07
R9746:Slc12a9 UTSW 5 137,319,671 (GRCm39) missense probably damaging 1.00
RF017:Slc12a9 UTSW 5 137,323,812 (GRCm39) missense probably damaging 1.00
Z1177:Slc12a9 UTSW 5 137,320,699 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21