Incidental Mutation 'IGL03136:Slc47a2'
ID410540
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc47a2
Ensembl Gene ENSMUSG00000069855
Gene Namesolute carrier family 47, member 2
Synonyms4933429E10Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03136
Quality Score
Status
Chromosome11
Chromosomal Location61301631-61342860 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 61310765 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 343 (C343R)
Ref Sequence ENSEMBL: ENSMUSP00000090710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093029] [ENSMUST00000134423]
Predicted Effect probably benign
Transcript: ENSMUST00000093029
AA Change: C343R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000090710
Gene: ENSMUSG00000069855
AA Change: C343R

DomainStartEndE-ValueType
low complexity region 22 34 N/A INTRINSIC
Pfam:MatE 53 213 1.7e-35 PFAM
transmembrane domain 227 246 N/A INTRINSIC
Pfam:MatE 274 435 4e-34 PFAM
transmembrane domain 444 466 N/A INTRINSIC
transmembrane domain 545 567 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134423
AA Change: C343R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120907
Gene: ENSMUSG00000069855
AA Change: C343R

DomainStartEndE-ValueType
low complexity region 22 34 N/A INTRINSIC
Pfam:MatE 53 213 3.5e-32 PFAM
transmembrane domain 227 246 N/A INTRINSIC
Pfam:MatE 274 435 1.7e-36 PFAM
transmembrane domain 444 466 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik A G 11: 25,769,122 L7S unknown Het
Abr C T 11: 76,425,295 W571* probably null Het
Adam18 A T 8: 24,641,836 C420S probably damaging Het
Akap5 G T 12: 76,329,875 E694* probably null Het
Bbs1 T C 19: 4,890,991 K565R probably benign Het
Brix1 A G 15: 10,478,766 F189S probably damaging Het
Cnot4 C A 6: 35,051,241 R480L probably damaging Het
Ctu2 A G 8: 122,479,201 probably benign Het
Dhcr7 A G 7: 143,847,366 H422R probably damaging Het
Dock1 A G 7: 135,168,389 M1793V probably benign Het
Dock7 A G 4: 99,003,791 F853L probably damaging Het
Fkbp15 G A 4: 62,340,229 probably benign Het
Ftsj3 C T 11: 106,253,813 D117N probably damaging Het
Gphn A G 12: 78,481,333 I142V possibly damaging Het
Hsd3b1 G A 3: 98,852,985 A230V probably damaging Het
Hydin G A 8: 110,418,524 A836T probably benign Het
Ift52 G T 2: 163,025,334 E71* probably null Het
Ms4a14 T C 19: 11,304,411 D261G possibly damaging Het
Nid1 G A 13: 13,500,499 V935I probably benign Het
Nrap T C 19: 56,342,255 K1008E possibly damaging Het
Nup210 A C 6: 91,028,861 V1340G probably benign Het
Olfr1442 T A 19: 12,674,967 I254N probably damaging Het
Olfr169 A T 16: 19,566,353 F177I probably damaging Het
Olfr974 T C 9: 39,943,036 Y259H probably damaging Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Pdcd6ip T A 9: 113,691,499 N139I probably damaging Het
Pgbd1 A G 13: 21,433,439 V80A possibly damaging Het
Pigw A G 11: 84,877,777 I242T probably benign Het
Prtg T G 9: 72,856,985 V580G possibly damaging Het
Ptpn13 T A 5: 103,543,463 N1065K possibly damaging Het
Qrich1 G A 9: 108,544,918 R577H probably damaging Het
Ryr3 G A 2: 112,675,974 probably benign Het
Selenoi T C 5: 30,257,727 Y197H probably damaging Het
Smurf2 A T 11: 106,831,048 D527E probably benign Het
Spam1 C T 6: 24,797,011 probably benign Het
Stkld1 T C 2: 26,951,423 V460A probably benign Het
Tgoln1 G A 6: 72,614,113 R339W probably damaging Het
Tprg T C 16: 25,412,762 probably benign Het
Treml1 T G 17: 48,364,851 probably benign Het
Ttc39b A T 4: 83,237,280 V497E probably damaging Het
Vmn1r223 A G 13: 23,249,763 T176A possibly damaging Het
Vmn2r75 A T 7: 86,148,703 I634N possibly damaging Het
Vps13c A G 9: 67,950,310 E2608G probably damaging Het
Zfp575 A G 7: 24,585,956 C87R probably damaging Het
Zfp790 T A 7: 29,829,895 Y668* probably null Het
Other mutations in Slc47a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Slc47a2 APN 11 61302233 missense probably benign 0.16
IGL01367:Slc47a2 APN 11 61329781 missense probably benign 0.03
IGL01681:Slc47a2 APN 11 61338040 missense probably damaging 1.00
IGL01874:Slc47a2 APN 11 61312859 critical splice acceptor site probably null
IGL02049:Slc47a2 APN 11 61342539 missense probably damaging 0.98
IGL02399:Slc47a2 APN 11 61302194 unclassified probably benign
IGL02481:Slc47a2 APN 11 61336241 missense possibly damaging 0.58
IGL02880:Slc47a2 APN 11 61307540 missense probably damaging 0.97
IGL03068:Slc47a2 APN 11 61303943 missense probably damaging 1.00
IGL03236:Slc47a2 APN 11 61313679 missense probably damaging 1.00
IGL03286:Slc47a2 APN 11 61342467 missense possibly damaging 0.57
R0047:Slc47a2 UTSW 11 61336242 missense possibly damaging 0.90
R0047:Slc47a2 UTSW 11 61336242 missense possibly damaging 0.90
R0597:Slc47a2 UTSW 11 61309976 missense probably damaging 0.98
R0690:Slc47a2 UTSW 11 61342504 missense possibly damaging 0.62
R2042:Slc47a2 UTSW 11 61338082 missense probably benign 0.05
R2217:Slc47a2 UTSW 11 61313671 missense probably benign 0.00
R2218:Slc47a2 UTSW 11 61313671 missense probably benign 0.00
R2271:Slc47a2 UTSW 11 61328526 critical splice donor site probably null
R2272:Slc47a2 UTSW 11 61328526 critical splice donor site probably null
R4067:Slc47a2 UTSW 11 61303947 missense probably benign 0.00
R4861:Slc47a2 UTSW 11 61336233 missense probably benign 0.00
R4861:Slc47a2 UTSW 11 61336233 missense probably benign 0.00
R4862:Slc47a2 UTSW 11 61313694 missense possibly damaging 0.69
R4985:Slc47a2 UTSW 11 61302233 missense probably benign
R5419:Slc47a2 UTSW 11 61307586 missense probably benign
R5593:Slc47a2 UTSW 11 61342660 missense probably benign 0.00
R7105:Slc47a2 UTSW 11 61342443 missense probably benign 0.07
R7358:Slc47a2 UTSW 11 61308873 missense possibly damaging 0.78
R7522:Slc47a2 UTSW 11 61302250 missense probably benign 0.14
Z1176:Slc47a2 UTSW 11 61325889 missense probably benign 0.28
Z1177:Slc47a2 UTSW 11 61328575 missense probably damaging 1.00
Posted On2016-08-02