Incidental Mutation 'R4394:Slc41a3'
ID 326526
Institutional Source Beutler Lab
Gene Symbol Slc41a3
Ensembl Gene ENSMUSG00000030089
Gene Name solute carrier family 41, member 3
Synonyms 1010001P06Rik, SLC41A1-L2
MMRRC Submission 041683-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4394 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 90581707-90623394 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90612312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 201 (S201C)
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: S201C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032177
Gene: ENSMUSG00000030089
AA Change: S201C

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: S227C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000037473
Gene: ENSMUSG00000030089
AA Change: S227C

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 0.6929 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 99% (69/70)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A G 6: 88,813,566 (GRCm39) F391L probably damaging Het
AC140205.10 C A 8: 21,323,181 (GRCm39) T192K probably benign Het
Arid4b T A 13: 14,329,557 (GRCm39) probably null Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Brip1 A T 11: 85,965,124 (GRCm39) N855K possibly damaging Het
Ces2f A G 8: 105,677,586 (GRCm39) N197S probably damaging Het
Chd4 A G 6: 125,098,581 (GRCm39) T1520A probably damaging Het
Cltc A C 11: 86,624,456 (GRCm39) N159K probably damaging Het
Cntn1 C T 15: 92,189,645 (GRCm39) T656I probably damaging Het
Crybg3 A G 16: 59,380,458 (GRCm39) probably benign Het
Dzip1l T A 9: 99,521,907 (GRCm39) L181H probably damaging Het
Fam3b C A 16: 97,282,986 (GRCm39) probably null Het
Fat1 T A 8: 45,405,383 (GRCm39) N711K probably damaging Het
Fat3 A G 9: 15,834,088 (GRCm39) I4168T probably benign Het
Fbxw20 T C 9: 109,061,398 (GRCm39) D117G probably benign Het
Gm8122 A G 14: 43,091,525 (GRCm39) L81P unknown Het
Hal T C 10: 93,332,421 (GRCm39) probably benign Het
Hgf T A 5: 16,823,949 (GRCm39) Y715* probably null Het
Hid1 T A 11: 115,258,468 (GRCm39) probably benign Het
Hyou1 T A 9: 44,293,169 (GRCm39) V125E probably damaging Het
Jrkl G A 9: 13,245,146 (GRCm39) Q172* probably null Het
Lamc3 A G 2: 31,821,964 (GRCm39) E1304G probably benign Het
Lman2l A C 1: 36,478,804 (GRCm39) C103G probably damaging Het
Lrfn5 T C 12: 61,890,276 (GRCm39) S522P probably damaging Het
Mark3 A T 12: 111,570,957 (GRCm39) I86L possibly damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mgst2 G A 3: 51,571,949 (GRCm39) V26I probably damaging Het
Neb A T 2: 52,077,525 (GRCm39) Y158* probably null Het
Nipbl T C 15: 8,391,345 (GRCm39) I210V probably benign Het
Or7g18 A T 9: 18,786,907 (GRCm39) I95L probably damaging Het
Or8j3b C T 2: 86,205,523 (GRCm39) A78T possibly damaging Het
Pcdhb8 C T 18: 37,489,935 (GRCm39) P538S probably damaging Het
Postn A G 3: 54,278,376 (GRCm39) D295G probably damaging Het
Prss38 T C 11: 59,263,854 (GRCm39) Y286C probably damaging Het
Psen2 A T 1: 180,068,347 (GRCm39) V102E probably damaging Het
Ptpn9 A T 9: 56,943,847 (GRCm39) K126N possibly damaging Het
Ptprd A G 4: 76,046,922 (GRCm39) I435T probably damaging Het
Rab39 T C 9: 53,597,950 (GRCm39) K105R probably benign Het
Robo2 C A 16: 73,745,267 (GRCm39) R840L probably benign Het
Rps6ka5 T A 12: 100,547,578 (GRCm39) I311F probably damaging Het
Ryr1 G T 7: 28,793,667 (GRCm39) T1267K possibly damaging Het
Sis G A 3: 72,863,482 (GRCm39) T252I probably damaging Het
Slitrk1 A C 14: 109,148,735 (GRCm39) S659A probably benign Het
Snx25 A T 8: 46,488,715 (GRCm39) M880K probably damaging Het
Tbxas1 C T 6: 39,004,713 (GRCm39) T320I probably benign Het
Tex44 T C 1: 86,355,489 (GRCm39) V466A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tnxb C T 17: 34,897,636 (GRCm39) Q804* probably null Het
Tpst1 T A 5: 130,131,343 (GRCm39) M271K probably benign Het
Trank1 C T 9: 111,194,265 (GRCm39) T763I possibly damaging Het
Trip12 A T 1: 84,703,462 (GRCm39) H729Q probably damaging Het
Tshz3 A T 7: 36,469,030 (GRCm39) T340S probably damaging Het
Ttc5 T C 14: 51,018,962 (GRCm39) K52E probably benign Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Wsb2 T G 5: 117,501,643 (GRCm39) probably benign 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
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
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'- GCAGCCTGTTGAGCATCTAG -3'
(R):5'- GCTTACTTCTCAGACCTCCAAG -3'

Sequencing Primer
(F):5'- CCTGTTGAGCATCTAGACTTTCATAG -3'
(R):5'- TCCAAGCCCTGTCGACTTGAG -3'
Posted On 2015-07-06