Incidental Mutation 'R6122:Slc12a8'
ID 485797
Institutional Source Beutler Lab
Gene Symbol Slc12a8
Ensembl Gene ENSMUSG00000035506
Gene Name solute carrier family 12 (potassium/chloride transporters), member 8
Synonyms E330020C02Rik
MMRRC Submission 044269-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6122 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 33337698-33484505 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33445384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 260 (D260V)
Ref Sequence ENSEMBL: ENSMUSP00000113901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059056] [ENSMUST00000117134] [ENSMUST00000119173] [ENSMUST00000121925] [ENSMUST00000122314] [ENSMUST00000122427]
AlphaFold Q8VI23
Predicted Effect probably damaging
Transcript: ENSMUST00000059056
AA Change: D506V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062337
Gene: ENSMUSG00000035506
AA Change: D506V

DomainStartEndE-ValueType
Pfam:AA_permease_2 38 410 4e-24 PFAM
Pfam:AA_permease 43 409 5.3e-51 PFAM
low complexity region 481 496 N/A INTRINSIC
transmembrane domain 585 607 N/A INTRINSIC
transmembrane domain 612 634 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117134
AA Change: D260V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112925
Gene: ENSMUSG00000035506
AA Change: D260V

DomainStartEndE-ValueType
Pfam:AA_permease 1 163 3.5e-22 PFAM
low complexity region 235 250 N/A INTRINSIC
transmembrane domain 339 361 N/A INTRINSIC
transmembrane domain 366 388 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119173
AA Change: D426V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113633
Gene: ENSMUSG00000035506
AA Change: D426V

DomainStartEndE-ValueType
Pfam:AA_permease_2 7 266 4.2e-15 PFAM
Pfam:AA_permease 12 267 1.9e-37 PFAM
transmembrane domain 295 317 N/A INTRINSIC
low complexity region 401 416 N/A INTRINSIC
transmembrane domain 505 527 N/A INTRINSIC
transmembrane domain 532 554 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121925
AA Change: D506V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112439
Gene: ENSMUSG00000035506
AA Change: D506V

DomainStartEndE-ValueType
Pfam:AA_permease_2 38 409 2.4e-23 PFAM
Pfam:AA_permease 43 409 5e-50 PFAM
low complexity region 481 496 N/A INTRINSIC
transmembrane domain 585 607 N/A INTRINSIC
transmembrane domain 612 634 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000122314
AA Change: D260V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113901
Gene: ENSMUSG00000035506
AA Change: D260V

DomainStartEndE-ValueType
Pfam:AA_permease 1 163 3.3e-22 PFAM
low complexity region 235 250 N/A INTRINSIC
transmembrane domain 339 361 N/A INTRINSIC
transmembrane domain 366 388 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000122427
AA Change: D480V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113164
Gene: ENSMUSG00000035506
AA Change: D480V

DomainStartEndE-ValueType
Pfam:AA_permease_2 38 386 7.7e-18 PFAM
Pfam:AA_permease 43 381 1.3e-44 PFAM
low complexity region 455 470 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149291
Meta Mutation Damage Score 0.1706 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.8%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,853,750 (GRCm39) *301W probably null Het
Abat A G 16: 8,423,414 (GRCm39) I236V probably benign Het
Abca8a T C 11: 109,961,249 (GRCm39) T558A probably benign Het
Ace3 A C 11: 105,885,764 (GRCm39) M57L probably benign Het
Adgrg1 T C 8: 95,729,129 (GRCm39) S18P probably benign Het
Ahi1 A G 10: 20,934,064 (GRCm39) D60G probably benign Het
Ap4e1 T A 2: 126,870,080 (GRCm39) probably null Het
Arnt2 C A 7: 84,010,773 (GRCm39) K34N probably damaging Het
Ascc3 T A 10: 50,494,021 (GRCm39) M152K probably benign Het
AW551984 A T 9: 39,505,051 (GRCm39) F480L probably benign Het
Blvrb G A 7: 27,158,773 (GRCm39) A58T possibly damaging Het
Bpifa1 C T 2: 153,985,892 (GRCm39) T69I probably benign Het
Cacna1g T A 11: 94,320,997 (GRCm39) M1366L probably benign Het
Ccdc82 A G 9: 13,266,880 (GRCm39) I361V probably benign Het
Clca4b T A 3: 144,631,927 (GRCm39) I193F possibly damaging Het
Crb1 A T 1: 139,176,686 (GRCm39) Y371* probably null Het
Cul9 T C 17: 46,832,854 (GRCm39) D1363G possibly damaging Het
Cyp2j8 C T 4: 96,332,877 (GRCm39) A490T probably benign Het
D430041D05Rik A T 2: 104,086,637 (GRCm39) S780T probably benign Het
Fzd5 G T 1: 64,774,815 (GRCm39) C315* probably null Het
Gabrr1 T C 4: 33,161,695 (GRCm39) S340P probably damaging Het
Galnt7 T C 8: 57,979,200 (GRCm39) D641G probably damaging Het
Gm7133 A G 1: 97,110,948 (GRCm39) noncoding transcript Het
Heatr5b A G 17: 79,120,602 (GRCm39) L774P possibly damaging Het
Itch T A 2: 155,015,985 (GRCm39) S157T probably benign Het
Itgam A C 7: 127,684,824 (GRCm39) D398A probably damaging Het
Kalrn G T 16: 33,805,561 (GRCm39) L2659M possibly damaging Het
Kcnj14 C A 7: 45,468,875 (GRCm39) R210L possibly damaging Het
Kmt2d T C 15: 98,758,573 (GRCm39) probably benign Het
Krt1c G C 15: 101,724,349 (GRCm39) T305S probably damaging Het
Mcm3ap A G 10: 76,342,441 (GRCm39) N1645D probably damaging Het
Naf1 T A 8: 67,336,096 (GRCm39) I341K probably damaging Het
Nbea G T 3: 55,937,317 (GRCm39) H765N probably damaging Het
Ncapd3 A G 9: 26,975,278 (GRCm39) I776V probably benign Het
Neo1 A T 9: 58,824,291 (GRCm39) D712E probably benign Het
Neu1 G A 17: 35,153,730 (GRCm39) V385I probably benign Het
Or14j3 C A 17: 37,900,817 (GRCm39) R142S probably benign Het
Or51a6 C A 7: 102,604,011 (GRCm39) G273C probably damaging Het
Or51a6 A G 7: 102,604,737 (GRCm39) Y24H probably benign Het
Pgghg A C 7: 140,523,308 (GRCm39) T196P possibly damaging Het
Pira2 A T 7: 3,845,445 (GRCm39) V313E probably damaging Het
Pkd1l2 T C 8: 117,809,107 (GRCm39) R28G probably benign Het
Pkhd1l1 T C 15: 44,421,336 (GRCm39) S3035P probably damaging Het
Ppp1r9a T A 6: 4,905,509 (GRCm39) N21K probably damaging Het
Prune1 T C 3: 95,169,554 (GRCm39) D216G probably benign Het
Ptpn23 G T 9: 110,216,893 (GRCm39) probably benign Het
Ranbp2 T A 10: 58,301,351 (GRCm39) M668K probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpsa G T 9: 119,960,102 (GRCm39) V222L probably benign Het
Septin2 A G 1: 93,425,098 (GRCm39) T45A probably damaging Het
Srrm2 G T 17: 24,039,330 (GRCm39) M2087I possibly damaging Het
Tg T C 15: 66,700,306 (GRCm39) L88P probably damaging Het
Tns1 A G 1: 73,991,578 (GRCm39) probably null Het
Topbp1 A T 9: 103,224,160 (GRCm39) D1429V probably benign Het
Tprg1 A G 16: 25,241,151 (GRCm39) probably null Het
Trit1 T C 4: 122,933,261 (GRCm39) I66T possibly damaging Het
Usf3 A T 16: 44,037,670 (GRCm39) I717L probably damaging Het
Other mutations in Slc12a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Slc12a8 APN 16 33,361,267 (GRCm39) missense probably damaging 1.00
IGL01701:Slc12a8 APN 16 33,361,280 (GRCm39) missense probably damaging 1.00
IGL02024:Slc12a8 APN 16 33,428,568 (GRCm39) missense probably damaging 1.00
IGL02223:Slc12a8 APN 16 33,445,060 (GRCm39) missense probably damaging 1.00
IGL02637:Slc12a8 APN 16 33,355,330 (GRCm39) missense probably benign 0.05
IGL03248:Slc12a8 APN 16 33,371,397 (GRCm39) missense probably damaging 1.00
R0136:Slc12a8 UTSW 16 33,428,583 (GRCm39) missense probably damaging 1.00
R0436:Slc12a8 UTSW 16 33,371,455 (GRCm39) missense probably damaging 1.00
R0586:Slc12a8 UTSW 16 33,478,600 (GRCm39) missense possibly damaging 0.87
R0669:Slc12a8 UTSW 16 33,371,274 (GRCm39) missense possibly damaging 0.91
R0780:Slc12a8 UTSW 16 33,467,035 (GRCm39) splice site probably null
R1170:Slc12a8 UTSW 16 33,483,347 (GRCm39) missense probably damaging 1.00
R1383:Slc12a8 UTSW 16 33,355,357 (GRCm39) missense probably damaging 1.00
R1707:Slc12a8 UTSW 16 33,371,377 (GRCm39) missense probably damaging 1.00
R2917:Slc12a8 UTSW 16 33,371,296 (GRCm39) missense probably damaging 1.00
R4092:Slc12a8 UTSW 16 33,437,491 (GRCm39) missense probably damaging 1.00
R4532:Slc12a8 UTSW 16 33,371,403 (GRCm39) missense probably damaging 1.00
R4604:Slc12a8 UTSW 16 33,428,529 (GRCm39) missense probably damaging 1.00
R4638:Slc12a8 UTSW 16 33,410,693 (GRCm39) missense possibly damaging 0.95
R4908:Slc12a8 UTSW 16 33,426,629 (GRCm39) splice site probably null
R5148:Slc12a8 UTSW 16 33,445,288 (GRCm39) missense probably benign 0.00
R5186:Slc12a8 UTSW 16 33,437,578 (GRCm39) missense probably damaging 1.00
R5711:Slc12a8 UTSW 16 33,410,679 (GRCm39) missense probably damaging 1.00
R5760:Slc12a8 UTSW 16 33,445,155 (GRCm39) nonsense probably null
R6592:Slc12a8 UTSW 16 33,437,626 (GRCm39) critical splice donor site probably null
R6995:Slc12a8 UTSW 16 33,355,263 (GRCm39) nonsense probably null
R7602:Slc12a8 UTSW 16 33,445,494 (GRCm39) missense probably benign 0.00
R7772:Slc12a8 UTSW 16 33,371,335 (GRCm39) missense probably damaging 1.00
R7849:Slc12a8 UTSW 16 33,444,930 (GRCm39) missense probably damaging 1.00
R8022:Slc12a8 UTSW 16 33,445,456 (GRCm39) missense probably benign 0.01
R8293:Slc12a8 UTSW 16 33,361,348 (GRCm39) missense probably benign 0.07
R8345:Slc12a8 UTSW 16 33,371,321 (GRCm39) missense probably benign 0.02
R8765:Slc12a8 UTSW 16 33,338,731 (GRCm39) missense possibly damaging 0.87
R9022:Slc12a8 UTSW 16 33,466,934 (GRCm39) missense probably benign 0.00
R9027:Slc12a8 UTSW 16 33,445,215 (GRCm39) missense probably benign 0.00
R9180:Slc12a8 UTSW 16 33,361,397 (GRCm39) missense probably damaging 1.00
R9384:Slc12a8 UTSW 16 33,466,947 (GRCm39) missense probably benign
Z1176:Slc12a8 UTSW 16 33,426,543 (GRCm39) missense possibly damaging 0.95
Z1176:Slc12a8 UTSW 16 33,361,335 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TACTCTGCACTGCTCTGAGC -3'
(R):5'- AGGAGGCCCCAAAATTATTCCAAAG -3'

Sequencing Primer
(F):5'- TCTGATGTCCCTGCCAGAAG -3'
(R):5'- CCCCAAAATTATTCCAAAGCTCTTAC -3'
Posted On 2017-08-16