Incidental Mutation 'IGL02405:Slc43a3'
ID 292047
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc43a3
Ensembl Gene ENSMUSG00000027074
Gene Name solute carrier family 43, member 3
Synonyms Eeg1, SEEEG-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02405
Quality Score
Status
Chromosome 2
Chromosomal Location 84766923-84788853 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84768585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 68 (E68G)
Ref Sequence ENSEMBL: ENSMUSP00000116513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090726] [ENSMUST00000130278] [ENSMUST00000138719] [ENSMUST00000141650]
AlphaFold A2AVZ9
Predicted Effect probably damaging
Transcript: ENSMUST00000090726
AA Change: E68G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000088227
Gene: ENSMUSG00000027074
AA Change: E68G

DomainStartEndE-ValueType
Pfam:MFS_1 12 457 1.2e-20 PFAM
transmembrane domain 470 487 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130278
Predicted Effect probably damaging
Transcript: ENSMUST00000138719
AA Change: E68G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121959
Gene: ENSMUSG00000027074
AA Change: E68G

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 70 92 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000141650
AA Change: E68G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116513
Gene: ENSMUSG00000027074
AA Change: E68G

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 70 92 N/A INTRINSIC
transmembrane domain 99 118 N/A INTRINSIC
transmembrane domain 123 145 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155537
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,498,036 (GRCm39) S1434P possibly damaging Het
Abcc12 G T 8: 87,284,782 (GRCm39) Q278K probably damaging Het
Adk A G 14: 21,153,899 (GRCm39) K48R probably benign Het
Atp8b3 C T 10: 80,366,462 (GRCm39) G267D probably damaging Het
Bpifa6 T A 2: 153,832,782 (GRCm39) L299* probably null Het
Cblb G A 16: 51,986,616 (GRCm39) A620T probably benign Het
Cep128 C T 12: 91,233,760 (GRCm39) R436H probably benign Het
Chd4 A G 6: 125,074,190 (GRCm39) D21G probably benign Het
Cnksr1 T C 4: 133,963,592 (GRCm39) D30G possibly damaging Het
Crybb2 A G 5: 113,206,374 (GRCm39) Y154H probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dhx57 A T 17: 80,562,979 (GRCm39) probably null Het
Eri2 T C 7: 119,384,705 (GRCm39) R599G probably damaging Het
Fcrl1 A C 3: 87,293,074 (GRCm39) K244Q probably damaging Het
Gm11992 A G 11: 9,009,939 (GRCm39) N179S probably benign Het
Hgfac A G 5: 35,201,824 (GRCm39) D319G probably benign Het
Irf5 G A 6: 29,535,760 (GRCm39) R258H probably damaging Het
Mecr G A 4: 131,590,303 (GRCm39) probably null Het
Obscn T G 11: 59,023,428 (GRCm39) K650Q probably damaging Het
Or5b98 A G 19: 12,931,823 (GRCm39) Y290C probably damaging Het
Pde4d T C 13: 108,996,743 (GRCm39) probably null Het
Saxo4 G A 19: 10,451,930 (GRCm39) T406I probably damaging Het
Serpinh1 A G 7: 98,996,541 (GRCm39) M217T possibly damaging Het
Setbp1 A T 18: 78,900,514 (GRCm39) M1051K probably damaging Het
Supt5 T C 7: 28,015,249 (GRCm39) N969D probably benign Het
Taf2 A T 15: 54,897,551 (GRCm39) probably benign Het
Tlr2 A G 3: 83,743,981 (GRCm39) F701L probably damaging Het
Trim46 T C 3: 89,149,792 (GRCm39) T222A probably benign Het
Tshz3 A T 7: 36,469,075 (GRCm39) N355Y possibly damaging Het
Vmn2r3 A G 3: 64,178,620 (GRCm39) probably benign Het
Xkr9 A T 1: 13,742,997 (GRCm39) probably benign Het
Zfhx3 C T 8: 109,682,374 (GRCm39) A3271V unknown Het
Other mutations in Slc43a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02017:Slc43a3 APN 2 84,768,585 (GRCm39) missense probably damaging 1.00
IGL02756:Slc43a3 APN 2 84,774,612 (GRCm39) missense probably benign 0.06
R0276:Slc43a3 UTSW 2 84,768,007 (GRCm39) start gained probably benign
R1158:Slc43a3 UTSW 2 84,768,140 (GRCm39) missense probably benign 0.27
R1865:Slc43a3 UTSW 2 84,777,245 (GRCm39) missense possibly damaging 0.90
R1992:Slc43a3 UTSW 2 84,788,084 (GRCm39) missense probably damaging 0.99
R2073:Slc43a3 UTSW 2 84,774,956 (GRCm39) critical splice donor site probably null
R2243:Slc43a3 UTSW 2 84,778,782 (GRCm39) unclassified probably benign
R3819:Slc43a3 UTSW 2 84,774,896 (GRCm39) missense probably damaging 1.00
R4758:Slc43a3 UTSW 2 84,774,869 (GRCm39) missense probably damaging 1.00
R5294:Slc43a3 UTSW 2 84,786,654 (GRCm39) missense probably benign 0.13
R5369:Slc43a3 UTSW 2 84,788,067 (GRCm39) missense probably damaging 0.98
R6516:Slc43a3 UTSW 2 84,788,105 (GRCm39) missense probably benign 0.00
R6729:Slc43a3 UTSW 2 84,768,629 (GRCm39) missense probably damaging 1.00
R7012:Slc43a3 UTSW 2 84,777,313 (GRCm39) missense probably damaging 0.99
R8358:Slc43a3 UTSW 2 84,780,860 (GRCm39) missense probably benign 0.38
R8391:Slc43a3 UTSW 2 84,768,151 (GRCm39) missense probably benign 0.32
R8711:Slc43a3 UTSW 2 84,768,671 (GRCm39) missense probably damaging 1.00
R9382:Slc43a3 UTSW 2 84,780,771 (GRCm39) missense probably benign 0.18
R9729:Slc43a3 UTSW 2 84,780,800 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16