Incidental Mutation 'IGL01348:Slc12a1'
ID 75154
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc12a1
Ensembl Gene ENSMUSG00000027202
Gene Name solute carrier family 12, member 1
Synonyms D630042G03Rik, mBSC1, Nkcc2, urehr3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.244) question?
Stock # IGL01348
Quality Score
Status
Chromosome 2
Chromosomal Location 124994430-125071922 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125036051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 641 (N641S)
Ref Sequence ENSEMBL: ENSMUSP00000028630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028630] [ENSMUST00000110494] [ENSMUST00000110495]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000028630
AA Change: N641S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028630
Gene: ENSMUSG00000027202
AA Change: N641S

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:AA_permease_N 82 152 5.3e-22 PFAM
Pfam:AA_permease 173 677 2.3e-152 PFAM
Pfam:AA_permease_2 177 636 2.6e-24 PFAM
coiled coil region 815 843 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110494
AA Change: N641S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106120
Gene: ENSMUSG00000027202
AA Change: N641S

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:AA_permease_N 83 148 3.3e-26 PFAM
Pfam:AA_permease 173 677 2.2e-151 PFAM
Pfam:SLC12 685 1090 1.5e-153 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110495
AA Change: N641S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106121
Gene: ENSMUSG00000027202
AA Change: N641S

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:AA_permease_N 83 148 3.3e-26 PFAM
Pfam:AA_permease 173 677 1.6e-151 PFAM
Pfam:SLC12 685 1090 1.5e-153 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene do not survive to weaning and suffer from various metabolic abnormalities related to kidney function. Mice homozygous for an ENU-induced allele exhibit kidney disease, impaired urinary excretion of metabolism products, polyuria, and kidney alterations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,467,213 (GRCm39) E140G probably null Het
Adgrl3 A G 5: 81,874,570 (GRCm39) T956A probably damaging Het
Aff4 G A 11: 53,293,327 (GRCm39) S772N probably benign Het
Ark2n A G 18: 77,761,613 (GRCm39) I233T possibly damaging Het
Atad5 A G 11: 79,986,390 (GRCm39) I492M probably benign Het
Atf4 T C 15: 80,140,728 (GRCm39) probably benign Het
Atrip A G 9: 108,898,363 (GRCm39) S219P probably damaging Het
Axl G A 7: 25,462,734 (GRCm39) R656W probably damaging Het
B3gnt3 T A 8: 72,145,648 (GRCm39) Q240L possibly damaging Het
Baz2b A G 2: 59,764,031 (GRCm39) V915A possibly damaging Het
Cacna1s T C 1: 136,002,890 (GRCm39) V329A possibly damaging Het
Celf3 C A 3: 94,395,535 (GRCm39) Q388K possibly damaging Het
Ciita T C 16: 10,328,591 (GRCm39) S292P probably damaging Het
Cip2a A G 16: 48,833,551 (GRCm39) I551V probably damaging Het
Clec18a G A 8: 111,798,245 (GRCm39) A423V probably damaging Het
Clnk T C 5: 38,870,550 (GRCm39) D336G probably damaging Het
Csmd1 T G 8: 15,960,596 (GRCm39) H3273P probably damaging Het
Cyp3a11 A T 5: 145,805,817 (GRCm39) V157E possibly damaging Het
Dcp1b T C 6: 119,160,679 (GRCm39) I87T probably damaging Het
Ell3 A G 2: 121,272,277 (GRCm39) S66P probably damaging Het
Ercc4 T C 16: 12,950,798 (GRCm39) F631L probably damaging Het
Etl4 T A 2: 20,811,784 (GRCm39) V1289D probably damaging Het
Gm16372 T C 12: 24,543,606 (GRCm39) probably benign Het
Gm4553 C T 7: 141,718,909 (GRCm39) C173Y unknown Het
Gvin-ps5 T A 7: 105,929,042 (GRCm39) H285L unknown Het
Gykl1 A T 18: 52,827,808 (GRCm39) I339F possibly damaging Het
H60b A C 10: 22,162,078 (GRCm39) N101T possibly damaging Het
Inpp4a C T 1: 37,427,986 (GRCm39) T407I probably damaging Het
Itga11 A G 9: 62,651,861 (GRCm39) N331S possibly damaging Het
Kbtbd6 T A 14: 79,690,783 (GRCm39) C430S probably damaging Het
Mfsd4a T C 1: 131,995,564 (GRCm39) S1G probably null Het
Mybpc2 C A 7: 44,165,352 (GRCm39) M372I probably benign Het
Myh10 A T 11: 68,702,629 (GRCm39) T1768S probably benign Het
Myh8 A G 11: 67,188,606 (GRCm39) K1063E probably damaging Het
Nat8f5 A T 6: 85,794,862 (GRCm39) F33I probably damaging Het
Nbeal2 T G 9: 110,458,214 (GRCm39) N2119T probably damaging Het
Nek11 C T 9: 105,270,112 (GRCm39) G37S probably damaging Het
Npc1l1 T C 11: 6,177,974 (GRCm39) N479D probably damaging Het
Nup160 A G 2: 90,530,772 (GRCm39) T477A probably benign Het
Or10al5 A T 17: 38,063,177 (GRCm39) H144L probably benign Het
Or5h18 T A 16: 58,848,157 (GRCm39) T38S probably damaging Het
Pcgf2 A G 11: 97,581,066 (GRCm39) V259A probably benign Het
Pmm1 A G 15: 81,836,219 (GRCm39) V131A probably damaging Het
Polr3a A T 14: 24,511,831 (GRCm39) D908E probably damaging Het
Psg29 A C 7: 16,944,598 (GRCm39) R369S probably benign Het
Ptprq T A 10: 107,547,765 (GRCm39) D211V probably damaging Het
Rdh9 A G 10: 127,612,661 (GRCm39) N103S probably benign Het
Riok3 T C 18: 12,286,020 (GRCm39) probably benign Het
Serpinb1b A T 13: 33,275,398 (GRCm39) Q174H probably benign Het
Sgip1 G T 4: 102,772,353 (GRCm39) probably null Het
Sgpp1 A T 12: 75,781,767 (GRCm39) Y191N probably damaging Het
Slc5a4b T C 10: 75,906,422 (GRCm39) N399S probably damaging Het
Snx16 C T 3: 10,484,219 (GRCm39) A335T probably damaging Het
Sos2 C T 12: 69,664,866 (GRCm39) R355H probably damaging Het
Szt2 A G 4: 118,250,821 (GRCm39) probably benign Het
Tbcd T A 11: 121,387,902 (GRCm39) D344E probably benign Het
Tek C A 4: 94,747,895 (GRCm39) Q988K probably damaging Het
Tgm6 A G 2: 129,979,299 (GRCm39) D143G probably damaging Het
Tpx2 A G 2: 152,735,511 (GRCm39) K713R probably damaging Het
Trappc9 T A 15: 72,808,858 (GRCm39) E556V possibly damaging Het
Trpm6 A T 19: 18,855,015 (GRCm39) K1891N probably damaging Het
Trpv1 G A 11: 73,129,078 (GRCm39) probably null Het
Usp37 T C 1: 74,500,861 (GRCm39) S567G probably damaging Het
Zfp773 A T 7: 7,138,314 (GRCm39) V107D possibly damaging Het
Other mutations in Slc12a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00798:Slc12a1 APN 2 125,030,114 (GRCm39) missense probably damaging 1.00
IGL00845:Slc12a1 APN 2 125,030,158 (GRCm39) missense probably damaging 1.00
IGL01534:Slc12a1 APN 2 125,059,830 (GRCm39) missense probably damaging 1.00
IGL01677:Slc12a1 APN 2 125,020,069 (GRCm39) splice site probably benign
IGL02150:Slc12a1 APN 2 125,026,735 (GRCm39) missense probably damaging 1.00
IGL02220:Slc12a1 APN 2 125,030,190 (GRCm39) critical splice donor site probably null
IGL02568:Slc12a1 APN 2 125,026,648 (GRCm39) missense probably damaging 1.00
IGL02602:Slc12a1 APN 2 124,996,162 (GRCm39) missense probably damaging 1.00
IGL02625:Slc12a1 APN 2 125,012,611 (GRCm39) missense probably damaging 1.00
IGL02635:Slc12a1 APN 2 125,067,898 (GRCm39) missense probably benign
IGL02672:Slc12a1 APN 2 125,012,596 (GRCm39) missense probably damaging 1.00
IGL02718:Slc12a1 APN 2 125,002,999 (GRCm39) nonsense probably null
IGL03191:Slc12a1 APN 2 125,048,009 (GRCm39) missense possibly damaging 0.87
FR4449:Slc12a1 UTSW 2 124,996,136 (GRCm39) small insertion probably benign
FR4548:Slc12a1 UTSW 2 124,996,134 (GRCm39) small insertion probably benign
FR4737:Slc12a1 UTSW 2 124,996,134 (GRCm39) small insertion probably benign
PIT4431001:Slc12a1 UTSW 2 125,032,124 (GRCm39) missense possibly damaging 0.78
R0033:Slc12a1 UTSW 2 125,055,929 (GRCm39) missense probably benign
R0127:Slc12a1 UTSW 2 125,061,682 (GRCm39) missense probably damaging 1.00
R0312:Slc12a1 UTSW 2 125,067,948 (GRCm39) missense probably damaging 0.98
R0373:Slc12a1 UTSW 2 125,067,951 (GRCm39) missense probably damaging 1.00
R0692:Slc12a1 UTSW 2 125,036,082 (GRCm39) nonsense probably null
R1194:Slc12a1 UTSW 2 125,026,687 (GRCm39) missense probably benign 0.00
R1264:Slc12a1 UTSW 2 125,060,158 (GRCm39) missense possibly damaging 0.56
R1529:Slc12a1 UTSW 2 125,032,215 (GRCm39) missense probably damaging 1.00
R1543:Slc12a1 UTSW 2 125,026,777 (GRCm39) missense possibly damaging 0.93
R1940:Slc12a1 UTSW 2 125,036,113 (GRCm39) missense probably benign 0.05
R2109:Slc12a1 UTSW 2 125,015,619 (GRCm39) missense probably damaging 1.00
R2167:Slc12a1 UTSW 2 125,015,601 (GRCm39) missense probably damaging 1.00
R3409:Slc12a1 UTSW 2 124,996,071 (GRCm39) missense probably benign 0.00
R3902:Slc12a1 UTSW 2 125,030,113 (GRCm39) missense probably damaging 1.00
R4079:Slc12a1 UTSW 2 125,042,543 (GRCm39) missense possibly damaging 0.86
R4502:Slc12a1 UTSW 2 125,067,964 (GRCm39) missense probably damaging 1.00
R4557:Slc12a1 UTSW 2 125,028,561 (GRCm39) missense probably damaging 1.00
R4719:Slc12a1 UTSW 2 124,995,913 (GRCm39) missense possibly damaging 0.82
R4782:Slc12a1 UTSW 2 125,002,999 (GRCm39) nonsense probably null
R4845:Slc12a1 UTSW 2 125,030,146 (GRCm39) missense probably damaging 1.00
R4913:Slc12a1 UTSW 2 125,070,670 (GRCm39) missense probably damaging 0.96
R5024:Slc12a1 UTSW 2 125,008,057 (GRCm39) missense probably benign 0.00
R5112:Slc12a1 UTSW 2 125,060,144 (GRCm39) missense possibly damaging 0.63
R5334:Slc12a1 UTSW 2 125,059,809 (GRCm39) missense probably damaging 1.00
R5470:Slc12a1 UTSW 2 125,012,634 (GRCm39) missense probably damaging 1.00
R6057:Slc12a1 UTSW 2 125,032,133 (GRCm39) missense probably damaging 1.00
R6604:Slc12a1 UTSW 2 125,026,735 (GRCm39) missense probably damaging 1.00
R6941:Slc12a1 UTSW 2 125,055,999 (GRCm39) missense possibly damaging 0.85
R6944:Slc12a1 UTSW 2 125,002,454 (GRCm39) missense probably damaging 0.97
R7049:Slc12a1 UTSW 2 125,013,177 (GRCm39) missense probably benign 0.04
R7204:Slc12a1 UTSW 2 125,042,542 (GRCm39) missense possibly damaging 0.93
R7427:Slc12a1 UTSW 2 125,056,052 (GRCm39) missense probably benign
R7428:Slc12a1 UTSW 2 125,056,052 (GRCm39) missense probably benign
R7432:Slc12a1 UTSW 2 125,047,960 (GRCm39) missense probably benign 0.36
R7470:Slc12a1 UTSW 2 125,059,815 (GRCm39) nonsense probably null
R7828:Slc12a1 UTSW 2 125,008,602 (GRCm39) missense possibly damaging 0.85
R7862:Slc12a1 UTSW 2 125,003,014 (GRCm39) missense probably damaging 0.99
R7923:Slc12a1 UTSW 2 125,056,012 (GRCm39) missense possibly damaging 0.75
R8020:Slc12a1 UTSW 2 125,020,022 (GRCm39) missense possibly damaging 0.78
R8071:Slc12a1 UTSW 2 125,028,234 (GRCm39) missense probably damaging 1.00
R8272:Slc12a1 UTSW 2 125,070,736 (GRCm39) missense probably damaging 1.00
R8302:Slc12a1 UTSW 2 125,032,209 (GRCm39) missense probably damaging 0.99
R8722:Slc12a1 UTSW 2 125,002,518 (GRCm39) missense probably damaging 1.00
R9029:Slc12a1 UTSW 2 124,996,004 (GRCm39) missense probably benign
R9153:Slc12a1 UTSW 2 125,002,989 (GRCm39) splice site probably benign
R9449:Slc12a1 UTSW 2 125,028,144 (GRCm39) missense probably damaging 1.00
R9568:Slc12a1 UTSW 2 125,032,218 (GRCm39) missense probably damaging 1.00
R9614:Slc12a1 UTSW 2 125,002,445 (GRCm39) missense probably damaging 0.99
R9723:Slc12a1 UTSW 2 125,059,827 (GRCm39) missense probably damaging 1.00
RF032:Slc12a1 UTSW 2 124,996,130 (GRCm39) small insertion probably benign
Posted On 2013-10-07