Incidental Mutation 'IGL01534:Slc12a1'
ID89887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc12a1
Ensembl Gene ENSMUSG00000027202
Gene Namesolute carrier family 12, member 1
Synonymsurehr3, mBSC1, Nkcc2, D630042G03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.243) question?
Stock #IGL01534
Quality Score
Status
Chromosome2
Chromosomal Location125152505-125230002 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 125217910 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 910 (D910G)
Ref Sequence ENSEMBL: ENSMUSP00000106121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028630] [ENSMUST00000110494] [ENSMUST00000110495]
Predicted Effect probably damaging
Transcript: ENSMUST00000028630
AA Change: D910G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028630
Gene: ENSMUSG00000027202
AA Change: D910G

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: D910G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106120
Gene: ENSMUSG00000027202
AA Change: D910G

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: D910G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106121
Gene: ENSMUSG00000027202
AA Change: D910G

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: ENSMUST00000123574
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,368,081 L111P possibly damaging Het
Adck5 C A 15: 76,594,726 H383Q probably damaging Het
Asns T A 6: 7,675,397 H535L probably benign Het
Atf5 A G 7: 44,813,038 S221P probably damaging Het
Atr T C 9: 95,865,546 Y294H probably damaging Het
B230307C23Rik A G 16: 98,008,761 probably benign Het
C1qtnf6 C T 15: 78,525,216 E144K probably benign Het
Casp8ap2 C T 4: 32,648,134 probably benign Het
Cd48 C A 1: 171,695,739 P50Q possibly damaging Het
Cnnm4 T C 1: 36,499,515 Y593H probably benign Het
Col27a1 G A 4: 63,225,782 R569Q probably benign Het
Cubn A T 2: 13,465,933 C549* probably null Het
Dsg1a T A 18: 20,340,996 M1042K probably benign Het
Dzip1 T A 14: 118,877,239 T835S probably damaging Het
Eif3c T C 7: 126,557,695 T389A probably benign Het
Erlin2 G T 8: 27,031,957 E177* probably null Het
Fam172a T A 13: 77,999,711 probably benign Het
Gabrb1 T A 5: 71,869,429 S91T possibly damaging Het
Grik3 T C 4: 125,686,190 V576A probably damaging Het
Gtpbp2 T A 17: 46,163,504 Y70N probably damaging Het
Idh3a T A 9: 54,601,222 probably benign Het
Ift74 G A 4: 94,679,944 R406H probably benign Het
Kcna7 C A 7: 45,406,511 N50K probably damaging Het
Kcnd2 T C 6: 21,726,145 S546P probably benign Het
Lrp4 G A 2: 91,473,641 D134N probably damaging Het
Mcm2 A G 6: 88,887,718 probably null Het
Nlrp12 T C 7: 3,239,833 Y683C probably benign Het
Olfr1104 A G 2: 87,021,884 I220T probably damaging Het
Olfr114 A T 17: 37,590,072 Y94N possibly damaging Het
Olfr1499 T A 19: 13,815,302 H96L probably benign Het
Olfr1502 A T 19: 13,861,919 N42I probably damaging Het
Olfr710 T A 7: 106,944,339 I221F probably damaging Het
P2rx7 A C 5: 122,676,698 I409L probably damaging Het
Pde10a A G 17: 8,944,970 N191S probably damaging Het
Rabggtb A G 3: 153,910,259 probably null Het
Rgs4 A T 1: 169,744,516 C71* probably null Het
Rnase10 T C 14: 51,007,979 F5L probably benign Het
Scn11a T A 9: 119,780,822 T987S probably benign Het
Shox2 A C 3: 66,978,363 D126E probably benign Het
Slc15a1 C T 14: 121,464,952 C594Y possibly damaging Het
Spock2 C T 10: 60,127,061 probably benign Het
Togaram1 G T 12: 64,966,547 D191Y probably damaging Het
Triml2 T C 8: 43,187,623 V172A probably benign Het
Tubb3 C T 8: 123,420,966 R213C probably benign Het
Vmn2r4 A T 3: 64,406,423 V379E probably damaging Het
Zfp446 C T 7: 12,979,566 P153L probably damaging Het
Zfp608 A T 18: 54,898,932 N645K probably damaging Het
Other mutations in Slc12a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00798:Slc12a1 APN 2 125188194 missense probably damaging 1.00
IGL00845:Slc12a1 APN 2 125188238 missense probably damaging 1.00
IGL01348:Slc12a1 APN 2 125194131 missense probably damaging 1.00
IGL01677:Slc12a1 APN 2 125178149 splice site probably benign
IGL02150:Slc12a1 APN 2 125184815 missense probably damaging 1.00
IGL02220:Slc12a1 APN 2 125188270 critical splice donor site probably null
IGL02568:Slc12a1 APN 2 125184728 missense probably damaging 1.00
IGL02602:Slc12a1 APN 2 125154242 missense probably damaging 1.00
IGL02625:Slc12a1 APN 2 125170691 missense probably damaging 1.00
IGL02635:Slc12a1 APN 2 125225978 missense probably benign
IGL02672:Slc12a1 APN 2 125170676 missense probably damaging 1.00
IGL02718:Slc12a1 APN 2 125161079 nonsense probably null
IGL03191:Slc12a1 APN 2 125206089 missense possibly damaging 0.87
FR4449:Slc12a1 UTSW 2 125154216 small insertion probably benign
FR4548:Slc12a1 UTSW 2 125154214 small insertion probably benign
FR4737:Slc12a1 UTSW 2 125154214 small insertion probably benign
PIT4431001:Slc12a1 UTSW 2 125190204 missense possibly damaging 0.78
R0033:Slc12a1 UTSW 2 125214009 missense probably benign
R0127:Slc12a1 UTSW 2 125219762 missense probably damaging 1.00
R0312:Slc12a1 UTSW 2 125226028 missense probably damaging 0.98
R0373:Slc12a1 UTSW 2 125226031 missense probably damaging 1.00
R0692:Slc12a1 UTSW 2 125194162 nonsense probably null
R1194:Slc12a1 UTSW 2 125184767 missense probably benign 0.00
R1264:Slc12a1 UTSW 2 125218238 missense possibly damaging 0.56
R1529:Slc12a1 UTSW 2 125190295 missense probably damaging 1.00
R1543:Slc12a1 UTSW 2 125184857 missense possibly damaging 0.93
R1940:Slc12a1 UTSW 2 125194193 missense probably benign 0.05
R2109:Slc12a1 UTSW 2 125173699 missense probably damaging 1.00
R2167:Slc12a1 UTSW 2 125173681 missense probably damaging 1.00
R3409:Slc12a1 UTSW 2 125154151 missense probably benign 0.00
R3902:Slc12a1 UTSW 2 125188193 missense probably damaging 1.00
R4079:Slc12a1 UTSW 2 125200623 missense possibly damaging 0.86
R4502:Slc12a1 UTSW 2 125226044 missense probably damaging 1.00
R4557:Slc12a1 UTSW 2 125186641 missense probably damaging 1.00
R4719:Slc12a1 UTSW 2 125153993 missense possibly damaging 0.82
R4782:Slc12a1 UTSW 2 125161079 nonsense probably null
R4845:Slc12a1 UTSW 2 125188226 missense probably damaging 1.00
R4913:Slc12a1 UTSW 2 125228750 missense probably damaging 0.96
R5024:Slc12a1 UTSW 2 125166137 missense probably benign 0.00
R5112:Slc12a1 UTSW 2 125218224 missense possibly damaging 0.63
R5334:Slc12a1 UTSW 2 125217889 missense probably damaging 1.00
R5470:Slc12a1 UTSW 2 125170714 missense probably damaging 1.00
R6057:Slc12a1 UTSW 2 125190213 missense probably damaging 1.00
R6604:Slc12a1 UTSW 2 125184815 missense probably damaging 1.00
R6941:Slc12a1 UTSW 2 125214079 missense possibly damaging 0.85
R6944:Slc12a1 UTSW 2 125160534 missense probably damaging 0.97
R7049:Slc12a1 UTSW 2 125171257 missense probably benign 0.04
R7204:Slc12a1 UTSW 2 125200622 missense possibly damaging 0.93
R7427:Slc12a1 UTSW 2 125214132 missense probably benign
R7428:Slc12a1 UTSW 2 125214132 missense probably benign
R7432:Slc12a1 UTSW 2 125206040 missense probably benign 0.36
R7470:Slc12a1 UTSW 2 125217895 nonsense probably null
Posted On2013-12-03