Incidental Mutation 'R1529:Slc41a3'
ID 166453
Institutional Source Beutler Lab
Gene Symbol Slc41a3
Ensembl Gene ENSMUSG00000030089
Gene Name solute carrier family 41, member 3
Synonyms 1010001P06Rik, SLC41A1-L2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1529 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 90581707-90623394 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90621198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 387 (V387L)
Ref Sequence ENSEMBL: ENSMUSP00000032177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032177] [ENSMUST00000044019]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032177
AA Change: V387L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032177
Gene: ENSMUSG00000030089
AA Change: V387L

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 probably benign
Transcript: ENSMUST00000044019
AA Change: V413L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000037473
Gene: ENSMUSG00000030089
AA Change: V413L

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T C 3: 59,768,533 (GRCm39) I21T probably benign Het
Adam11 T C 11: 102,665,939 (GRCm39) probably null Het
Amd1 A T 10: 40,166,501 (GRCm39) M194K probably benign Het
Ap1b1 T G 11: 4,989,547 (GRCm39) F793C probably damaging Het
Arfgef3 G A 10: 18,488,970 (GRCm39) R1292* probably null Het
Arhgef5 C A 6: 43,256,449 (GRCm39) H1186N probably damaging Het
Atad1 A G 19: 32,684,321 (GRCm39) F26L probably benign Het
Atg2b C T 12: 105,627,392 (GRCm39) V532I probably benign Het
Atp2b4 A G 1: 133,645,726 (GRCm39) F943L probably damaging Het
Atp7b G A 8: 22,518,740 (GRCm39) L21F possibly damaging Het
Ccdc9b T A 2: 118,592,241 (GRCm39) probably null Het
Cenpf A T 1: 189,392,235 (GRCm39) D532E probably benign Het
Cimip3 G A 17: 47,724,815 (GRCm39) S102L probably benign Het
Ckmt2 A T 13: 92,009,320 (GRCm39) D202E probably benign Het
Crim1 A C 17: 78,675,383 (GRCm39) K864T probably benign Het
Ctnnd2 A G 15: 30,887,267 (GRCm39) R765G possibly damaging Het
Ddx10 T A 9: 53,028,499 (GRCm39) R802* probably null Het
Dnah7b T A 1: 46,216,441 (GRCm39) F1152L probably damaging Het
Dsg1c T C 18: 20,415,080 (GRCm39) L659P probably damaging Het
Dzank1 A G 2: 144,324,108 (GRCm39) F577L probably benign Het
Eci3 T C 13: 35,140,903 (GRCm39) D93G probably benign Het
Ecpas T C 4: 58,832,701 (GRCm39) probably null Het
Ep400 C A 5: 110,887,311 (GRCm39) V591L probably benign Het
Fgd3 T C 13: 49,420,170 (GRCm39) N569S probably benign Het
Ghsr T A 3: 27,426,631 (GRCm39) V229E probably damaging Het
Gna15 T A 10: 81,345,176 (GRCm39) I230F probably damaging Het
Gnl2 A G 4: 124,940,099 (GRCm39) S324G probably damaging Het
Grid1 T C 14: 35,031,250 (GRCm39) V281A probably benign Het
Hebp2 G A 10: 18,421,509 (GRCm39) A12V possibly damaging Het
Hfm1 T C 5: 107,000,989 (GRCm39) D1254G probably benign Het
Hif3a A C 7: 16,776,564 (GRCm39) S459A probably benign Het
Hnrnpl T A 7: 28,513,348 (GRCm39) N149K possibly damaging Het
Hoxc10 A T 15: 102,875,635 (GRCm39) S115C probably damaging Het
Hycc2 A T 1: 58,578,766 (GRCm39) D261E probably benign Het
Ifnab T C 4: 88,609,292 (GRCm39) D58G possibly damaging Het
Itfg1 T C 8: 86,537,243 (GRCm39) T195A probably benign Het
Itpr3 T A 17: 27,324,459 (GRCm39) probably null Het
Iws1 A G 18: 32,213,334 (GRCm39) D254G probably benign Het
Kl C A 5: 150,912,406 (GRCm39) D718E probably benign Het
Lrit2 A G 14: 36,790,784 (GRCm39) I154M probably benign Het
Lrp2 T C 2: 69,353,526 (GRCm39) D578G probably damaging Het
Lss T G 10: 76,372,123 (GRCm39) Y159* probably null Het
Mab21l1 C A 3: 55,691,254 (GRCm39) Y280* probably null Het
Maf A T 8: 116,419,909 (GRCm39) S378T probably benign Het
Mast2 C T 4: 116,287,716 (GRCm39) V59I probably benign Het
Nisch C T 14: 30,902,895 (GRCm39) probably benign Het
Nova2 A T 7: 18,691,479 (GRCm39) N139Y probably damaging Het
Nup210 C A 6: 91,013,358 (GRCm39) D434Y probably damaging Het
Nvl C T 1: 180,936,724 (GRCm39) probably null Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or51g2 A G 7: 102,623,086 (GRCm39) Y38H probably damaging Het
Or56b1 A G 7: 104,285,696 (GRCm39) T272A probably benign Het
Or8k18 A T 2: 86,085,585 (GRCm39) Y151N probably damaging Het
Or8k3b A G 2: 86,520,677 (GRCm39) V214A possibly damaging Het
Pbx3 T C 2: 34,094,871 (GRCm39) Y255C probably damaging Het
Pcyt1a G A 16: 32,270,611 (GRCm39) E27K possibly damaging Het
Pex6 A T 17: 47,024,990 (GRCm39) T348S probably benign Het
Phf21b A G 15: 84,681,597 (GRCm39) I251T probably damaging Het
Pkd2l2 T C 18: 34,563,755 (GRCm39) I490T probably damaging Het
Pla2g12a T A 3: 129,672,534 (GRCm39) L56Q probably damaging Het
Plk4 A G 3: 40,760,971 (GRCm39) T434A probably benign Het
Ptpn13 A G 5: 103,711,998 (GRCm39) N1632S probably benign Het
Rfpl4 C T 7: 5,113,711 (GRCm39) V151M probably damaging Het
Rpain G C 11: 70,865,741 (GRCm39) E169Q probably damaging Het
Samd8 T A 14: 21,825,227 (GRCm39) V124D possibly damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Slc12a1 C T 2: 125,032,215 (GRCm39) T622I probably damaging Het
Slc17a3 T A 13: 24,029,428 (GRCm39) V67D probably damaging Het
Slitrk1 T A 14: 109,150,709 (GRCm39) M1L probably benign Het
Stat4 T C 1: 52,050,952 (GRCm39) W4R probably damaging Het
Tas2r126 A G 6: 42,411,502 (GRCm39) T12A probably benign Het
Tbc1d24 A G 17: 24,404,953 (GRCm39) C64R probably damaging Het
Tcaf2 T C 6: 42,606,440 (GRCm39) S505G probably benign Het
Tiam2 T C 17: 3,566,978 (GRCm39) V1506A probably benign Het
Tmem9b A C 7: 109,336,156 (GRCm39) S163A probably benign Het
Tmtc2 G A 10: 105,139,519 (GRCm39) S669L probably damaging Het
Tnpo3 A T 6: 29,560,220 (GRCm39) I641K possibly damaging Het
Ttn C T 2: 76,565,711 (GRCm39) A28214T probably damaging Het
Utp11 G A 4: 124,577,032 (GRCm39) A113V probably benign Het
Utp20 G A 10: 88,588,868 (GRCm39) R2434C probably damaging Het
Vmn1r60 A T 7: 5,547,902 (GRCm39) I66N probably benign Het
Zeb2 T C 2: 44,887,206 (GRCm39) E572G probably damaging Het
Other mutations in Slc41a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00948:Slc41a3 APN 6 90,622,696 (GRCm39) missense probably damaging 1.00
IGL02583:Slc41a3 APN 6 90,621,153 (GRCm39) missense probably damaging 0.99
PIT4378001:Slc41a3 UTSW 6 90,617,891 (GRCm39) missense probably benign 0.36
R1076:Slc41a3 UTSW 6 90,621,142 (GRCm39) missense probably benign
R1591:Slc41a3 UTSW 6 90,610,677 (GRCm39) missense probably benign 0.02
R1985:Slc41a3 UTSW 6 90,619,210 (GRCm39) missense probably damaging 1.00
R2133:Slc41a3 UTSW 6 90,603,363 (GRCm39) missense probably damaging 0.99
R2308:Slc41a3 UTSW 6 90,589,102 (GRCm39) missense possibly damaging 0.51
R2384:Slc41a3 UTSW 6 90,603,393 (GRCm39) missense probably damaging 0.98
R2697:Slc41a3 UTSW 6 90,619,302 (GRCm39) missense possibly damaging 0.81
R3237:Slc41a3 UTSW 6 90,613,847 (GRCm39) missense probably benign 0.10
R4287:Slc41a3 UTSW 6 90,617,904 (GRCm39) missense probably benign 0.00
R4394:Slc41a3 UTSW 6 90,612,312 (GRCm39) missense probably damaging 1.00
R5039:Slc41a3 UTSW 6 90,603,399 (GRCm39) missense probably damaging 1.00
R5195:Slc41a3 UTSW 6 90,610,653 (GRCm39) missense probably damaging 1.00
R5293:Slc41a3 UTSW 6 90,603,426 (GRCm39) missense probably damaging 0.99
R5338:Slc41a3 UTSW 6 90,589,153 (GRCm39) missense possibly damaging 0.93
R5608:Slc41a3 UTSW 6 90,617,889 (GRCm39) missense probably benign 0.06
R5681:Slc41a3 UTSW 6 90,617,928 (GRCm39) missense probably damaging 0.99
R5783:Slc41a3 UTSW 6 90,596,524 (GRCm39) missense probably benign 0.06
R6648:Slc41a3 UTSW 6 90,596,490 (GRCm39) missense probably damaging 0.99
R7867:Slc41a3 UTSW 6 90,617,909 (GRCm39) missense probably damaging 0.96
R8733:Slc41a3 UTSW 6 90,610,710 (GRCm39) missense possibly damaging 0.95
R8776:Slc41a3 UTSW 6 90,621,165 (GRCm39) missense probably benign 0.06
R8776-TAIL:Slc41a3 UTSW 6 90,621,165 (GRCm39) missense probably benign 0.06
R8905:Slc41a3 UTSW 6 90,589,123 (GRCm39) missense probably benign 0.11
R9365:Slc41a3 UTSW 6 90,612,327 (GRCm39) missense probably benign 0.05
R9747:Slc41a3 UTSW 6 90,621,138 (GRCm39) missense probably benign 0.37
X0025:Slc41a3 UTSW 6 90,612,304 (GRCm39) missense probably damaging 1.00
Z1177:Slc41a3 UTSW 6 90,596,555 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTGCCAAGATGGCCTCTGCAAG -3'
(R):5'- TGAAGTGTTCAGTGAGAGGTGCAAC -3'

Sequencing Primer
(F):5'- TGGCCTCTGCAAGGATGTAAG -3'
(R):5'- AGGTGCAACCATGCAGC -3'
Posted On 2014-04-13