Incidental Mutation 'R5367:Slc12a4'
ID 478264
Institutional Source Beutler Lab
Gene Symbol Slc12a4
Ensembl Gene ENSMUSG00000017765
Gene Name solute carrier family 12, member 4
Synonyms K-Cl Co-transporter-1, KCC1
MMRRC Submission 042945-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # R5367 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106670222-106692729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106678266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 309 (V309E)
Ref Sequence ENSEMBL: ENSMUSP00000034370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034370] [ENSMUST00000116429]
AlphaFold Q9JIS8
Predicted Effect probably damaging
Transcript: ENSMUST00000034370
AA Change: V309E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034370
Gene: ENSMUSG00000017765
AA Change: V309E

DomainStartEndE-ValueType
low complexity region 97 117 N/A INTRINSIC
Pfam:AA_permease 125 318 5.8e-28 PFAM
Pfam:AA_permease 409 698 1.2e-40 PFAM
Pfam:SLC12 710 833 7.1e-18 PFAM
Pfam:SLC12 829 1087 4.8e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000116429
AA Change: V307E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112130
Gene: ENSMUSG00000017765
AA Change: V307E

DomainStartEndE-ValueType
low complexity region 95 115 N/A INTRINSIC
Pfam:AA_permease 123 309 7.7e-29 PFAM
Pfam:AA_permease_2 390 654 2.9e-17 PFAM
Pfam:AA_permease 404 696 4.4e-39 PFAM
Pfam:KCl_Cotrans_1 953 982 9.2e-21 PFAM
low complexity region 1065 1080 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132231
SMART Domains Protein: ENSMUSP00000121018
Gene: ENSMUSG00000017765

DomainStartEndE-ValueType
low complexity region 66 86 N/A INTRINSIC
Pfam:AA_permease 94 171 1.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183884
Meta Mutation Damage Score 0.6984 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 97% (70/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a constitutively active mutation display microcytosis and hypochromic anemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T C 3: 59,947,057 (GRCm39) Y252H probably damaging Het
Aadat T C 8: 60,979,630 (GRCm39) I164T probably damaging Het
Adam11 A G 11: 102,664,479 (GRCm39) H389R probably benign Het
Alkbh5 G T 11: 60,429,529 (GRCm39) R94L possibly damaging Het
Ampd3 A G 7: 110,407,078 (GRCm39) K644R possibly damaging Het
Ankhd1 T A 18: 36,722,461 (GRCm39) L328H probably damaging Het
Ankrd55 G T 13: 112,455,036 (GRCm39) V45F probably damaging Het
Apol7c C A 15: 77,410,347 (GRCm39) V200F probably damaging Het
Arap1 G A 7: 101,058,337 (GRCm39) V721M probably damaging Het
Arhgef40 A G 14: 52,227,156 (GRCm39) D400G probably damaging Het
Bmp4 G T 14: 46,621,950 (GRCm39) T198K possibly damaging Het
Cblb T A 16: 52,025,016 (GRCm39) F970L probably damaging Het
Celf5 A G 10: 81,303,098 (GRCm39) S148P probably damaging Het
Ckap5 T A 2: 91,445,486 (GRCm39) C1708S possibly damaging Het
Clec2l T C 6: 38,654,459 (GRCm39) F147L possibly damaging Het
Cnksr1 T A 4: 133,957,525 (GRCm39) I465F possibly damaging Het
Coq10b A G 1: 55,092,143 (GRCm39) D37G probably benign Het
Cpq T G 15: 33,213,250 (GRCm39) Y90D possibly damaging Het
Depdc1a G A 3: 159,229,591 (GRCm39) probably null Het
Eif2ak4 T A 2: 118,266,639 (GRCm39) probably null Het
Eif3e C T 15: 43,115,700 (GRCm39) M355I probably damaging Het
Eif4e1b G A 13: 54,934,757 (GRCm39) V181M probably damaging Het
Erap1 A G 13: 74,794,680 (GRCm39) E113G probably damaging Het
Fads2 A G 19: 10,041,649 (GRCm39) L438P probably damaging Het
Fbl T A 7: 27,874,475 (GRCm39) V67E probably damaging Het
Gde1 A G 7: 118,304,629 (GRCm39) L82P probably damaging Het
Gm10226 T C 17: 21,910,884 (GRCm39) S40P possibly damaging Het
Gm10717 T G 9: 3,026,317 (GRCm39) F205C probably damaging Het
Gm1988 T A 7: 38,823,204 (GRCm39) noncoding transcript Het
Gm6728 T C 6: 136,463,502 (GRCm39) noncoding transcript Het
Grb14 C T 2: 64,747,653 (GRCm39) V369I probably benign Het
Jag1 T A 2: 136,927,014 (GRCm39) Q915L possibly damaging Het
Kdm5d G A Y: 941,645 (GRCm39) G1282D probably benign Het
Krt87 A T 15: 101,384,875 (GRCm39) L407Q probably damaging Het
Mlf1 A T 3: 67,301,296 (GRCm39) H118L probably damaging Het
Mmp10 G T 9: 7,505,603 (GRCm39) C289F probably damaging Het
Mroh2a A T 1: 88,182,687 (GRCm39) N1205I possibly damaging Het
Myo9a T A 9: 59,807,732 (GRCm39) S2029T probably damaging Het
Nap1l4 A C 7: 143,088,035 (GRCm39) S174R probably damaging Het
Nos3 A G 5: 24,576,942 (GRCm39) T490A probably benign Het
Or12d2 T A 17: 37,625,147 (GRCm39) I43F probably damaging Het
Or4k35 T A 2: 111,100,235 (GRCm39) Q159L possibly damaging Het
Or5a1 A G 19: 12,097,800 (GRCm39) V80A possibly damaging Het
Or5b106 G A 19: 13,123,865 (GRCm39) L53F probably damaging Het
Or5g23 A T 2: 85,438,718 (GRCm39) C179S probably damaging Het
Pdlim7 G C 13: 55,653,975 (GRCm39) T214S probably benign Het
Piezo2 T C 18: 63,197,802 (GRCm39) E1578G probably damaging Het
Ptcd1 T A 5: 145,084,715 (GRCm39) probably benign Het
Sart3 C T 5: 113,897,277 (GRCm39) probably null Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scrn2 A G 11: 96,923,953 (GRCm39) D279G possibly damaging Het
Sh2d3c A G 2: 32,635,914 (GRCm39) D94G probably damaging Het
Slc1a6 A G 10: 78,623,637 (GRCm39) E12G probably damaging Het
Smarcal1 T C 1: 72,635,135 (GRCm39) probably null Het
Smr3a T C 5: 88,155,897 (GRCm39) probably benign Het
Stox2 A G 8: 47,656,260 (GRCm39) I72T probably damaging Het
Tmem234 G T 4: 129,494,500 (GRCm39) probably benign Het
Tmem35b A G 4: 127,018,266 (GRCm39) Q20R possibly damaging Het
Tom1l2 G A 11: 60,132,634 (GRCm39) H430Y probably benign Het
Tpo T C 12: 30,153,289 (GRCm39) Y355C probably damaging Het
Tulp2 A G 7: 45,166,075 (GRCm39) N122S possibly damaging Het
Washc2 T A 6: 116,236,111 (GRCm39) L1194H probably damaging Het
Xbp1 T C 11: 5,471,910 (GRCm39) V12A probably benign Het
Other mutations in Slc12a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01471:Slc12a4 APN 8 106,670,721 (GRCm39) missense probably damaging 1.00
IGL01637:Slc12a4 APN 8 106,687,339 (GRCm39) missense possibly damaging 0.72
IGL01736:Slc12a4 APN 8 106,672,475 (GRCm39) critical splice donor site probably null
IGL01804:Slc12a4 APN 8 106,671,033 (GRCm39) missense probably damaging 1.00
IGL02000:Slc12a4 APN 8 106,671,864 (GRCm39) missense probably damaging 1.00
IGL02526:Slc12a4 APN 8 106,676,438 (GRCm39) missense possibly damaging 0.90
IGL03371:Slc12a4 APN 8 106,677,137 (GRCm39) missense probably null 0.99
IGL03385:Slc12a4 APN 8 106,677,496 (GRCm39) unclassified probably benign
ablution UTSW 8 106,671,855 (GRCm39) missense probably damaging 1.00
custom UTSW 8 106,677,468 (GRCm39) missense probably benign 0.00
Custom2 UTSW 8 106,671,876 (GRCm39) critical splice acceptor site probably null
custom3 UTSW 8 106,676,371 (GRCm39) missense probably damaging 1.00
PIT4810001:Slc12a4 UTSW 8 106,678,228 (GRCm39) missense probably benign 0.00
R0033:Slc12a4 UTSW 8 106,674,111 (GRCm39) splice site probably benign
R0200:Slc12a4 UTSW 8 106,678,249 (GRCm39) missense probably benign 0.09
R0201:Slc12a4 UTSW 8 106,671,982 (GRCm39) missense possibly damaging 0.79
R0270:Slc12a4 UTSW 8 106,672,021 (GRCm39) missense probably benign 0.10
R0389:Slc12a4 UTSW 8 106,678,599 (GRCm39) missense probably benign 0.00
R0432:Slc12a4 UTSW 8 106,686,120 (GRCm39) missense probably damaging 1.00
R0751:Slc12a4 UTSW 8 106,678,532 (GRCm39) missense probably damaging 1.00
R1717:Slc12a4 UTSW 8 106,674,203 (GRCm39) splice site probably null
R1792:Slc12a4 UTSW 8 106,678,475 (GRCm39) missense possibly damaging 0.91
R1940:Slc12a4 UTSW 8 106,672,669 (GRCm39) missense probably benign 0.29
R3115:Slc12a4 UTSW 8 106,686,091 (GRCm39) missense probably damaging 1.00
R4898:Slc12a4 UTSW 8 106,671,241 (GRCm39) missense probably damaging 1.00
R5182:Slc12a4 UTSW 8 106,671,238 (GRCm39) missense probably damaging 1.00
R5220:Slc12a4 UTSW 8 106,680,484 (GRCm39) missense probably damaging 1.00
R5283:Slc12a4 UTSW 8 106,677,326 (GRCm39) critical splice donor site probably null
R5610:Slc12a4 UTSW 8 106,676,845 (GRCm39) missense possibly damaging 0.87
R5921:Slc12a4 UTSW 8 106,671,876 (GRCm39) critical splice acceptor site probably null
R6060:Slc12a4 UTSW 8 106,672,338 (GRCm39) missense probably damaging 1.00
R6182:Slc12a4 UTSW 8 106,674,531 (GRCm39) missense probably damaging 1.00
R6722:Slc12a4 UTSW 8 106,670,882 (GRCm39) splice site probably null
R6800:Slc12a4 UTSW 8 106,676,371 (GRCm39) missense probably damaging 1.00
R6956:Slc12a4 UTSW 8 106,680,484 (GRCm39) missense probably damaging 1.00
R7032:Slc12a4 UTSW 8 106,675,865 (GRCm39) missense probably damaging 1.00
R7092:Slc12a4 UTSW 8 106,671,855 (GRCm39) missense probably damaging 1.00
R7229:Slc12a4 UTSW 8 106,673,369 (GRCm39) missense probably benign 0.05
R7243:Slc12a4 UTSW 8 106,680,552 (GRCm39) missense probably damaging 1.00
R7323:Slc12a4 UTSW 8 106,682,347 (GRCm39) missense probably damaging 1.00
R7325:Slc12a4 UTSW 8 106,682,347 (GRCm39) missense probably damaging 1.00
R7327:Slc12a4 UTSW 8 106,682,347 (GRCm39) missense probably damaging 1.00
R7426:Slc12a4 UTSW 8 106,677,468 (GRCm39) missense probably benign 0.00
R7569:Slc12a4 UTSW 8 106,672,479 (GRCm39) missense probably damaging 1.00
R7710:Slc12a4 UTSW 8 106,672,203 (GRCm39) missense possibly damaging 0.95
R7968:Slc12a4 UTSW 8 106,678,237 (GRCm39) missense possibly damaging 0.94
R7970:Slc12a4 UTSW 8 106,678,237 (GRCm39) missense possibly damaging 0.94
R7971:Slc12a4 UTSW 8 106,678,237 (GRCm39) missense possibly damaging 0.94
R7972:Slc12a4 UTSW 8 106,678,237 (GRCm39) missense possibly damaging 0.94
R7973:Slc12a4 UTSW 8 106,678,237 (GRCm39) missense possibly damaging 0.94
R8221:Slc12a4 UTSW 8 106,678,601 (GRCm39) missense probably benign 0.00
R8386:Slc12a4 UTSW 8 106,678,250 (GRCm39) missense probably damaging 1.00
R8393:Slc12a4 UTSW 8 106,678,451 (GRCm39) missense probably damaging 0.99
R8751:Slc12a4 UTSW 8 106,676,285 (GRCm39) critical splice donor site probably null
R8786:Slc12a4 UTSW 8 106,680,549 (GRCm39) missense probably damaging 1.00
R8792:Slc12a4 UTSW 8 106,673,390 (GRCm39) missense probably damaging 1.00
R8941:Slc12a4 UTSW 8 106,673,322 (GRCm39) critical splice donor site probably null
R8965:Slc12a4 UTSW 8 106,671,982 (GRCm39) missense possibly damaging 0.79
R9100:Slc12a4 UTSW 8 106,675,774 (GRCm39) missense probably benign 0.30
R9113:Slc12a4 UTSW 8 106,670,984 (GRCm39) missense probably benign 0.09
X0019:Slc12a4 UTSW 8 106,670,984 (GRCm39) missense probably damaging 0.98
Z1177:Slc12a4 UTSW 8 106,673,364 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- TCTGTCACATTGTTGAGCAGG -3'
(R):5'- GAACAAGTTTGCCTCGCTCTTC -3'

Sequencing Primer
(F):5'- CTGTCACATTGTTGAGCAGGAAGTAG -3'
(R):5'- GGAGGCATCAAGTCCATTTTTGACC -3'
Posted On 2017-06-05