Incidental Mutation 'R2384:Slc41a3'
ID 247638
Institutional Source Beutler Lab
Gene Symbol Slc41a3
Ensembl Gene ENSMUSG00000030089
Gene Name solute carrier family 41, member 3
Synonyms 1010001P06Rik, SLC41A1-L2
MMRRC Submission 040358-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2384 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 90581707-90623394 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90603393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 138 (E138G)
Ref Sequence ENSEMBL: ENSMUSP00000037473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032177] [ENSMUST00000044019]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000032177
AA Change: E112G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032177
Gene: ENSMUSG00000030089
AA Change: E112G

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 damaging
Transcript: ENSMUST00000044019
AA Change: E138G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037473
Gene: ENSMUSG00000030089
AA Change: E138G

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
Meta Mutation Damage Score 0.2067 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 92.5%
Validation Efficiency 100% (37/37)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4933414I15Rik A G 11: 50,833,333 (GRCm39) S90P unknown Het
Abca13 T C 11: 9,217,450 (GRCm39) probably benign Het
Chpf C T 1: 75,451,753 (GRCm39) R567H probably benign Het
Cnp A G 11: 100,467,279 (GRCm39) Y74C probably damaging Het
Cul3 A T 1: 80,261,406 (GRCm39) V273D probably damaging Het
Dnmt3a A G 12: 3,951,591 (GRCm39) Y656C probably damaging Het
Erich3 A T 3: 154,470,288 (GRCm39) E107V possibly damaging Het
Fscn2 T C 11: 120,257,559 (GRCm39) S307P possibly damaging Het
Grm5 A G 7: 87,251,936 (GRCm39) E62G probably damaging Het
Hdac4 T C 1: 91,912,207 (GRCm39) Y394C probably benign Het
Hipk2 A G 6: 38,795,306 (GRCm39) I314T probably damaging Het
Hsd17b12 T A 2: 93,863,964 (GRCm39) I293L probably benign Het
Il36g A G 2: 24,082,660 (GRCm39) H145R probably benign Het
Ints12 T A 3: 132,814,864 (GRCm39) probably null Het
Khdrbs2 T C 1: 32,558,976 (GRCm39) S369G probably damaging Het
Klrh1 T A 6: 129,749,343 (GRCm39) H84L probably benign Het
Mup5 T A 4: 61,753,261 (GRCm39) probably null Het
Nlrp4g A G 9: 124,349,707 (GRCm38) noncoding transcript Het
Obscn A G 11: 58,933,663 (GRCm39) probably null Het
Ogdh C A 11: 6,292,526 (GRCm39) A413D probably damaging Het
Podn T C 4: 107,879,269 (GRCm39) E283G probably damaging Het
Ripk1 A G 13: 34,214,026 (GRCm39) D456G probably benign Het
Saxo4 A C 19: 10,458,646 (GRCm39) probably null Het
Scg3 T C 9: 75,573,008 (GRCm39) T308A probably damaging Het
Sele A G 1: 163,878,344 (GRCm39) T228A probably benign Het
Tmem161a T C 8: 70,630,204 (GRCm39) V104A probably benign Het
Tmem232 G A 17: 65,709,852 (GRCm39) R479W probably damaging Het
Trim26 C T 17: 37,161,781 (GRCm39) P67S probably damaging Het
Trpm8 A G 1: 88,287,378 (GRCm39) Y787C probably benign Het
Ttc28 T A 5: 111,424,074 (GRCm39) V1447D possibly damaging Het
Uaca G A 9: 60,777,199 (GRCm39) A527T probably damaging Het
Ucp2 A G 7: 100,147,461 (GRCm39) I172V probably benign Het
Zzef1 T A 11: 72,749,220 (GRCm39) Y903N 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
R1529:Slc41a3 UTSW 6 90,621,198 (GRCm39) missense probably damaging 0.99
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
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'- GGGGAAGTAGGTCACCATCTAG -3'
(R):5'- TTCACTATGCCACAGATACCG -3'

Sequencing Primer
(F):5'- GGTCACCATCTAGAAAGCTTAATAG -3'
(R):5'- GGTGGCCACATAGACAACTGTC -3'
Posted On 2014-11-11