Incidental Mutation 'IGL02672:Slc12a1'
ID 302965
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 # IGL02672
Quality Score
Status
Chromosome 2
Chromosomal Location 124994430-125071922 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125012596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 286 (V286A)
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: V286A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028630
Gene: ENSMUSG00000027202
AA Change: V286A

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 possibly damaging
Transcript: ENSMUST00000110494
AA Change: V286A

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106120
Gene: ENSMUSG00000027202
AA Change: V286A

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: V286A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106121
Gene: ENSMUSG00000027202
AA Change: V286A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147095
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Alpi A G 1: 87,028,994 (GRCm39) L60P probably damaging Het
Arpc1a A C 5: 145,041,697 (GRCm39) I327L probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Dcaf7 T C 11: 105,945,684 (GRCm39) probably benign Het
Dnah9 T G 11: 65,818,427 (GRCm39) I3304L probably benign Het
Dpp10 T A 1: 123,304,376 (GRCm39) H508L probably benign Het
Dync1i1 A G 6: 5,767,034 (GRCm39) D86G probably benign Het
Enpp7 T C 11: 118,883,166 (GRCm39) probably null Het
Fbxw9 C A 8: 85,792,682 (GRCm39) probably null Het
Foxred2 A G 15: 77,829,777 (GRCm39) probably null Het
Gas2l2 C T 11: 83,315,957 (GRCm39) R254H probably damaging Het
Gatad2b C T 3: 90,249,198 (GRCm39) L79F possibly damaging Het
Igf1r A T 7: 67,839,781 (GRCm39) D696V probably benign Het
Kcnk5 A G 14: 20,196,580 (GRCm39) I96T probably damaging Het
Lrrc8c C T 5: 105,755,224 (GRCm39) T333M possibly damaging Het
Mcm10 T C 2: 5,006,092 (GRCm39) T417A probably benign Het
Mesp2 T C 7: 79,461,145 (GRCm39) S157P probably benign Het
Naca A G 10: 127,876,152 (GRCm39) probably benign Het
Or5t17 A T 2: 86,832,417 (GRCm39) M35L probably benign Het
Osgepl1 A G 1: 53,359,270 (GRCm39) T260A probably benign Het
Otop1 T C 5: 38,435,170 (GRCm39) probably null Het
Pdk1 T C 2: 71,726,096 (GRCm39) S335P probably damaging Het
Phkb A G 8: 86,668,987 (GRCm39) N338S probably benign Het
Pogz G A 3: 94,763,410 (GRCm39) V61I probably benign Het
Ppp4r1 A G 17: 66,147,942 (GRCm39) Y928C probably damaging Het
Rab17 T C 1: 90,886,940 (GRCm39) E160G probably damaging Het
Rasgrp3 T A 17: 75,803,412 (GRCm39) F70Y probably benign Het
Rere T A 4: 150,594,483 (GRCm39) N364K unknown Het
Ryr1 A T 7: 28,703,944 (GRCm39) probably benign Het
Sae1 A G 7: 16,104,273 (GRCm39) V112A probably damaging Het
Serpinb6d C T 13: 33,855,372 (GRCm39) H349Y probably benign Het
Smad3 A T 9: 63,575,009 (GRCm39) probably null Het
Sox8 T A 17: 25,787,963 (GRCm39) D162V probably damaging Het
Sptbn1 A G 11: 30,087,239 (GRCm39) F1067L probably damaging Het
Tmprss3 T C 17: 31,409,981 (GRCm39) Y211C probably damaging Het
Top2b T C 14: 16,409,166 (GRCm38) probably benign Het
Tpp1 A T 7: 105,396,168 (GRCm39) H510Q probably benign Het
Ugcg T A 4: 59,218,587 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,818,376 (GRCm39) I651N probably benign Het
Wdr25 A T 12: 108,864,007 (GRCm39) K51* probably null 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
IGL01348:Slc12a1 APN 2 125,036,051 (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
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 2015-04-16