Incidental Mutation 'IGL02637:Slc12a8'
ID301546
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc12a8
Ensembl Gene ENSMUSG00000035506
Gene Namesolute carrier family 12 (potassium/chloride transporters), member 8
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02637
Quality Score
Status
Chromosome16
Chromosomal Location33517328-33664135 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 33534960 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 49 (M49L)
Ref Sequence ENSEMBL: ENSMUSP00000112439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059056] [ENSMUST00000119173] [ENSMUST00000121925] [ENSMUST00000122427]
Predicted Effect probably benign
Transcript: ENSMUST00000059056
AA Change: M49L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000062337
Gene: ENSMUSG00000035506
AA Change: M49L

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 benign
Transcript: ENSMUST00000119173
AA Change: M18L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113633
Gene: ENSMUSG00000035506
AA Change: M18L

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 benign
Transcript: ENSMUST00000121925
AA Change: M49L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112439
Gene: ENSMUSG00000035506
AA Change: M49L

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 benign
Transcript: ENSMUST00000122427
AA Change: M49L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000113164
Gene: ENSMUSG00000035506
AA Change: M49L

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
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 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik C A 2: 130,814,307 probably benign Het
Acsm4 A G 7: 119,710,684 Y435C probably damaging Het
Adgrb1 C T 15: 74,588,294 probably benign Het
Ampd1 T C 3: 103,094,883 probably benign Het
Camk1g G A 1: 193,348,388 P338S probably benign Het
Cog3 T C 14: 75,722,196 probably benign Het
Crat A G 2: 30,406,389 V355A probably benign Het
Ctla2a T A 13: 60,936,085 probably benign Het
Efhb A G 17: 53,449,552 I357T probably benign Het
Fh1 T C 1: 175,609,766 M256V probably benign Het
Gabrg3 A G 7: 56,735,027 I262T probably damaging Het
Gata2 C T 6: 88,204,576 probably benign Het
Gm6356 A G 14: 6,970,926 V178A possibly damaging Het
Hacl1 T C 14: 31,640,501 E63G probably damaging Het
Hid1 A T 11: 115,350,595 I623N probably damaging Het
Hivep2 A G 10: 14,130,708 K1017E possibly damaging Het
Ifi208 C T 1: 173,678,942 T97I probably benign Het
Ighg1 T C 12: 113,329,512 H186R unknown Het
Igkv8-26 T C 6: 70,193,658 S78P probably damaging Het
Itih3 T C 14: 30,915,660 N514S probably benign Het
Kcnj16 A T 11: 111,025,613 D367V probably benign Het
Klhl23 A T 2: 69,828,914 R428* probably null Het
Lgmn T C 12: 102,400,226 E216G probably damaging Het
Lmx1a G T 1: 167,844,623 probably benign Het
Lrp5 C T 19: 3,630,269 G405D probably benign Het
Lrrc74a C T 12: 86,741,747 R53* probably null Het
Lsm12 G A 11: 102,164,122 R123C probably benign Het
March5 T A 19: 37,220,634 probably benign Het
Mark3 C A 12: 111,592,656 A44D probably damaging Het
Mndal T A 1: 173,857,437 N522I possibly damaging Het
Nbeal2 G T 9: 110,625,977 R2611S possibly damaging Het
Nlrp4d T C 7: 10,382,555 noncoding transcript Het
Npnt T A 3: 132,884,510 I507F possibly damaging Het
Olfr576 G A 7: 102,973,043 probably benign Het
Pde4a T A 9: 21,201,332 L91Q probably damaging Het
Pdzd2 C T 15: 12,385,634 V1017M probably benign Het
Pkhd1l1 A G 15: 44,564,324 N3259S probably damaging Het
Plxnb2 A T 15: 89,164,057 H683Q possibly damaging Het
Reck T A 4: 43,898,009 S96T probably damaging Het
Rnf135 A G 11: 80,198,878 K347E probably benign Het
Rxfp2 A G 5: 150,055,913 D246G probably damaging Het
Sdk1 C T 5: 142,094,572 T1273I probably damaging Het
Slc5a11 A T 7: 123,260,505 probably null Het
Surf2 A G 2: 26,919,778 K247E probably damaging Het
Sys1 G A 2: 164,461,392 V9M possibly damaging Het
Tcf4 G A 18: 69,347,350 D18N probably damaging Het
Tmc6 A T 11: 117,767,590 V773D possibly damaging Het
Trappc13 T C 13: 104,150,062 Q229R probably benign Het
Trove2 A G 1: 143,770,788 V73A probably damaging Het
Xkr5 T C 8: 18,934,083 E481G probably benign Het
Xpo5 C A 17: 46,235,979 D885E probably damaging Het
Other mutations in Slc12a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Slc12a8 APN 16 33540897 missense probably damaging 1.00
IGL01701:Slc12a8 APN 16 33540910 missense probably damaging 1.00
IGL02024:Slc12a8 APN 16 33608198 missense probably damaging 1.00
IGL02223:Slc12a8 APN 16 33624690 missense probably damaging 1.00
IGL03248:Slc12a8 APN 16 33551027 missense probably damaging 1.00
R0136:Slc12a8 UTSW 16 33608213 missense probably damaging 1.00
R0436:Slc12a8 UTSW 16 33551085 missense probably damaging 1.00
R0586:Slc12a8 UTSW 16 33658230 missense possibly damaging 0.87
R0669:Slc12a8 UTSW 16 33550904 missense possibly damaging 0.91
R0780:Slc12a8 UTSW 16 33646665 splice site probably null
R1170:Slc12a8 UTSW 16 33662977 missense probably damaging 1.00
R1383:Slc12a8 UTSW 16 33534987 missense probably damaging 1.00
R1707:Slc12a8 UTSW 16 33551007 missense probably damaging 1.00
R2917:Slc12a8 UTSW 16 33550926 missense probably damaging 1.00
R4092:Slc12a8 UTSW 16 33617121 missense probably damaging 1.00
R4532:Slc12a8 UTSW 16 33551033 missense probably damaging 1.00
R4604:Slc12a8 UTSW 16 33608159 missense probably damaging 1.00
R4638:Slc12a8 UTSW 16 33590323 missense possibly damaging 0.95
R4908:Slc12a8 UTSW 16 33606259 splice site probably null
R5148:Slc12a8 UTSW 16 33624918 missense probably benign 0.00
R5186:Slc12a8 UTSW 16 33617208 missense probably damaging 1.00
R5711:Slc12a8 UTSW 16 33590309 missense probably damaging 1.00
R5760:Slc12a8 UTSW 16 33624785 nonsense probably null
R6122:Slc12a8 UTSW 16 33625014 missense probably damaging 0.99
R6592:Slc12a8 UTSW 16 33617256 critical splice donor site probably null
R6995:Slc12a8 UTSW 16 33534893 nonsense probably null
R7602:Slc12a8 UTSW 16 33625124 missense probably benign 0.00
R7772:Slc12a8 UTSW 16 33550965 missense probably damaging 1.00
R7849:Slc12a8 UTSW 16 33624560 missense probably damaging 1.00
R7932:Slc12a8 UTSW 16 33624560 missense probably damaging 1.00
R8022:Slc12a8 UTSW 16 33625086 missense probably benign 0.01
Z1176:Slc12a8 UTSW 16 33540965 frame shift probably null
Z1176:Slc12a8 UTSW 16 33606173 missense possibly damaging 0.95
Posted On2015-04-16