Incidental Mutation 'IGL02583:Slc41a3'
ID299442
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc41a3
Ensembl Gene ENSMUSG00000030089
Gene Namesolute carrier family 41, member 3
Synonyms1010001P06Rik, SLC41A1-L2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02583
Quality Score
Status
Chromosome6
Chromosomal Location90604725-90646412 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 90644171 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Serine at position 372 (G372S)
Ref Sequence ENSEMBL: ENSMUSP00000032177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032177] [ENSMUST00000044019]
Predicted Effect probably damaging
Transcript: ENSMUST00000032177
AA Change: G372S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032177
Gene: ENSMUSG00000030089
AA Change: G372S

DomainStartEndE-ValueType
transmembrane domain 42 64 N/A INTRINSIC
Pfam:MgtE 80 214 3.4e-27 PFAM
transmembrane domain 224 246 N/A INTRINSIC
transmembrane domain 258 277 N/A INTRINSIC
Pfam:MgtE 293 437 9.8e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000044019
AA Change: G398S

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037473
Gene: ENSMUSG00000030089
AA Change: G398S

DomainStartEndE-ValueType
transmembrane domain 68 90 N/A INTRINSIC
Pfam:MgtE 106 240 2.5e-27 PFAM
transmembrane domain 250 272 N/A INTRINSIC
transmembrane domain 284 303 N/A INTRINSIC
Pfam:MgtE 319 463 7.2e-27 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered magnesium ion homeostasis including hypomagnesemia. A subset of homozygotes develop severe unilateral hydronephrosis when fed a low magnesium diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik C T 5: 26,479,719 noncoding transcript Het
A430005L14Rik T A 4: 153,960,935 D140E possibly damaging Het
Bod1l C T 5: 41,816,207 probably null Het
Brms1 T A 19: 5,046,178 V61D probably damaging Het
Card11 A T 5: 140,878,126 N952K probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col15a1 T C 4: 47,279,866 V697A probably benign Het
Col7a1 A T 9: 108,962,229 I1118F unknown Het
Cyfip2 T C 11: 46,249,758 E746G possibly damaging Het
Dach1 A G 14: 97,828,394 probably benign Het
Dock11 G T X: 36,006,717 G1023W possibly damaging Het
Fbxo10 T C 4: 45,044,754 D453G probably damaging Het
Fhad1 T C 4: 142,011,644 probably benign Het
Gm17415 A G 1: 93,422,079 probably benign Het
Gm4781 A T 10: 100,396,645 noncoding transcript Het
Gpatch2 A C 1: 187,233,317 probably null Het
Gpatch2 G T 1: 187,233,318 probably null Het
Greb1 A G 12: 16,706,295 probably benign Het
Greb1l A G 18: 10,542,362 Y1319C probably damaging Het
Ice1 C T 13: 70,605,735 R744H possibly damaging Het
Kcnq2 T A 2: 181,081,502 S694C probably benign Het
Krt35 C A 11: 100,092,534 V448L possibly damaging Het
Lexm A T 4: 106,611,405 probably benign Het
Lmo7 A G 14: 101,933,924 probably benign Het
Megf8 T C 7: 25,355,793 S1984P probably benign Het
Nlrp1a T C 11: 71,123,401 Q341R probably benign Het
Olfr575 T C 7: 102,954,711 T297A possibly damaging Het
Olfr59 T A 11: 74,289,504 L286Q probably damaging Het
Osr1 C T 12: 9,579,675 H183Y probably damaging Het
Paf1 T C 7: 28,396,171 V202A probably damaging Het
Pde10a A G 17: 8,981,630 K1071E probably benign Het
Pwp2 T C 10: 78,181,083 R268G probably benign Het
Rwdd1 T A 10: 34,001,673 K178* probably null Het
Scn10a A T 9: 119,691,440 probably benign Het
Sema3g A G 14: 31,221,519 probably null Het
Slc22a6 C A 19: 8,623,616 A391E possibly damaging Het
Sqor G T 2: 122,799,770 K3N probably damaging Het
Srl T C 16: 4,492,380 Q495R possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stxbp3 G T 3: 108,800,871 D371E probably damaging Het
Tnfrsf19 C A 14: 61,024,210 V47F probably damaging Het
Usp11 A T X: 20,718,045 E622V probably benign Het
Vmn1r52 T A 6: 90,179,144 Y143* probably null Het
Zfp280d A G 9: 72,322,445 probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zmat1 T C X: 134,973,272 T457A probably damaging Het
Other mutations in Slc41a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00948:Slc41a3 APN 6 90645714 missense probably damaging 1.00
PIT4378001:Slc41a3 UTSW 6 90640909 missense probably benign 0.36
R1076:Slc41a3 UTSW 6 90644160 missense probably benign
R1529:Slc41a3 UTSW 6 90644216 missense probably damaging 0.99
R1591:Slc41a3 UTSW 6 90633695 missense probably benign 0.02
R1985:Slc41a3 UTSW 6 90642228 missense probably damaging 1.00
R2133:Slc41a3 UTSW 6 90626381 missense probably damaging 0.99
R2308:Slc41a3 UTSW 6 90612120 missense possibly damaging 0.51
R2384:Slc41a3 UTSW 6 90626411 missense probably damaging 0.98
R2697:Slc41a3 UTSW 6 90642320 missense possibly damaging 0.81
R3237:Slc41a3 UTSW 6 90636865 missense probably benign 0.10
R4287:Slc41a3 UTSW 6 90640922 missense probably benign 0.00
R4394:Slc41a3 UTSW 6 90635330 missense probably damaging 1.00
R5039:Slc41a3 UTSW 6 90626417 missense probably damaging 1.00
R5195:Slc41a3 UTSW 6 90633671 missense probably damaging 1.00
R5293:Slc41a3 UTSW 6 90626444 missense probably damaging 0.99
R5338:Slc41a3 UTSW 6 90612171 missense possibly damaging 0.93
R5608:Slc41a3 UTSW 6 90640907 missense probably benign 0.06
R5681:Slc41a3 UTSW 6 90640946 missense probably damaging 0.99
R5783:Slc41a3 UTSW 6 90619542 missense probably benign 0.06
R6648:Slc41a3 UTSW 6 90619508 missense probably damaging 0.99
R7867:Slc41a3 UTSW 6 90640927 missense probably damaging 0.96
R7950:Slc41a3 UTSW 6 90640927 missense probably damaging 0.96
X0025:Slc41a3 UTSW 6 90635322 missense probably damaging 1.00
Posted On2015-04-16