Incidental Mutation 'IGL01534:Slc12a1'
ID 89887
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 # IGL01534
Quality Score
Status
Chromosome 2
Chromosomal Location 124994430-125071922 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125059830 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 122,197,146 (GRCm39) L111P possibly damaging Het
Adck5 C A 15: 76,478,926 (GRCm39) H383Q probably damaging Het
Arb2a T A 13: 78,147,830 (GRCm39) probably benign Het
Asns T A 6: 7,675,397 (GRCm39) H535L probably benign Het
Atf5 A G 7: 44,462,462 (GRCm39) S221P probably damaging Het
Atr T C 9: 95,747,599 (GRCm39) Y294H probably damaging Het
B230307C23Rik A G 16: 97,809,961 (GRCm39) probably benign Het
C1qtnf6 C T 15: 78,409,416 (GRCm39) E144K probably benign Het
Casp8ap2 C T 4: 32,648,134 (GRCm39) probably benign Het
Cd48 C A 1: 171,523,307 (GRCm39) P50Q possibly damaging Het
Cnnm4 T C 1: 36,538,596 (GRCm39) Y593H probably benign Het
Col27a1 G A 4: 63,144,019 (GRCm39) R569Q probably benign Het
Cubn A T 2: 13,470,744 (GRCm39) C549* probably null Het
Dsg1a T A 18: 20,474,053 (GRCm39) M1042K probably benign Het
Dzip1 T A 14: 119,114,651 (GRCm39) T835S probably damaging Het
Eif3c T C 7: 126,156,867 (GRCm39) T389A probably benign Het
Erlin2 G T 8: 27,521,985 (GRCm39) E177* probably null Het
Gabrb1 T A 5: 72,026,772 (GRCm39) S91T possibly damaging Het
Grik3 T C 4: 125,579,983 (GRCm39) V576A probably damaging Het
Gtpbp2 T A 17: 46,474,430 (GRCm39) Y70N probably damaging Het
Idh3a T A 9: 54,508,506 (GRCm39) probably benign Het
Ift74 G A 4: 94,568,181 (GRCm39) R406H probably benign Het
Kcna7 C A 7: 45,055,935 (GRCm39) N50K probably damaging Het
Kcnd2 T C 6: 21,726,144 (GRCm39) S546P probably benign Het
Lrp4 G A 2: 91,303,986 (GRCm39) D134N probably damaging Het
Mcm2 A G 6: 88,864,700 (GRCm39) probably null Het
Nlrp12 T C 7: 3,288,463 (GRCm39) Y683C probably benign Het
Or14j3 A T 17: 37,900,963 (GRCm39) Y94N possibly damaging Het
Or2d4 T A 7: 106,543,546 (GRCm39) I221F probably damaging Het
Or8i2 A G 2: 86,852,228 (GRCm39) I220T probably damaging Het
Or9i1 A T 19: 13,839,283 (GRCm39) N42I probably damaging Het
Or9i14 T A 19: 13,792,666 (GRCm39) H96L probably benign Het
P2rx7 A C 5: 122,814,761 (GRCm39) I409L probably damaging Het
Pde10a A G 17: 9,163,802 (GRCm39) N191S probably damaging Het
Rabggtb A G 3: 153,615,896 (GRCm39) probably null Het
Rgs4 A T 1: 169,572,085 (GRCm39) C71* probably null Het
Rnase10 T C 14: 51,245,436 (GRCm39) F5L probably benign Het
Scn11a T A 9: 119,609,888 (GRCm39) T987S probably benign Het
Shox2 A C 3: 66,885,696 (GRCm39) D126E probably benign Het
Slc15a1 C T 14: 121,702,364 (GRCm39) C594Y possibly damaging Het
Spock2 C T 10: 59,962,883 (GRCm39) probably benign Het
Togaram1 G T 12: 65,013,321 (GRCm39) D191Y probably damaging Het
Triml2 T C 8: 43,640,660 (GRCm39) V172A probably benign Het
Tubb3 C T 8: 124,147,705 (GRCm39) R213C probably benign Het
Vmn2r4 A T 3: 64,313,844 (GRCm39) V379E probably damaging Het
Zfp446 C T 7: 12,713,493 (GRCm39) P153L probably damaging Het
Zfp608 A T 18: 55,032,004 (GRCm39) N645K probably 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
IGL01348:Slc12a1 APN 2 125,036,051 (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 2013-12-03