Incidental Mutation 'IGL02680:Slc41a2'
ID303338
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc41a2
Ensembl Gene ENSMUSG00000034591
Gene Namesolute carrier family 41, member 2
SynonymsA230035L05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.218) question?
Stock #IGL02680
Quality Score
Status
Chromosome10
Chromosomal Location83230848-83337882 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83283864 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 345 (Y345H)
Ref Sequence ENSEMBL: ENSMUSP00000036690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039956]
Predicted Effect probably benign
Transcript: ENSMUST00000039956
AA Change: Y345H

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000036690
Gene: ENSMUSG00000034591
AA Change: Y345H

DomainStartEndE-ValueType
transmembrane domain 159 181 N/A INTRINSIC
Pfam:MgtE 200 334 8.7e-24 PFAM
transmembrane domain 346 368 N/A INTRINSIC
transmembrane domain 375 397 N/A INTRINSIC
Pfam:MgtE 414 557 2.9e-32 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,635,949 probably benign Het
Aldh1a3 C A 7: 66,406,147 V299F probably damaging Het
Ankar A G 1: 72,670,116 Y747H probably damaging Het
Armc9 T C 1: 86,252,278 I107T probably damaging Het
Atmin A T 8: 116,957,497 D632V probably damaging Het
Atp5h C A 11: 115,416,014 probably null Het
Cadps2 T C 6: 23,838,896 E81G probably damaging Het
Cep162 A G 9: 87,246,744 V67A possibly damaging Het
Cfap100 C T 6: 90,412,235 V335I probably benign Het
Dmtf1 A T 5: 9,130,381 D181E probably benign Het
Efcab14 T A 4: 115,740,418 I70N probably damaging Het
Frzb T C 2: 80,424,626 T189A possibly damaging Het
Fstl3 G A 10: 79,778,672 W69* probably null Het
Gjb3 C T 4: 127,326,022 C239Y probably damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Inpp5d A G 1: 87,701,483 T397A possibly damaging Het
Myh11 G T 16: 14,209,520 H1283Q probably benign Het
Naip6 A G 13: 100,283,748 V1338A probably benign Het
Obscn A G 11: 59,000,020 S7229P unknown Het
Olfr364-ps1 A T 2: 37,146,415 I68F probably damaging Het
Pfkp G A 13: 6,600,672 probably benign Het
Pop1 T A 15: 34,502,473 I102K probably damaging Het
Ppp1r21 A G 17: 88,583,862 M732V probably benign Het
Rsc1a1 A G 4: 141,685,097 V168A probably benign Het
Scd2 G A 19: 44,301,246 V227I probably benign Het
Scn10a T A 9: 119,666,059 Y372F probably damaging Het
Slc35c2 G T 2: 165,282,135 T94K probably damaging Het
Slc5a11 T C 7: 123,265,631 S387P probably damaging Het
Smg7 T A 1: 152,845,394 N727I probably benign Het
Steap2 A T 5: 5,673,474 F469I probably benign Het
Tex2 T A 11: 106,568,232 probably benign Het
Tmem79 A G 3: 88,332,963 L226P probably damaging Het
Tnfrsf14 G T 4: 154,924,470 C165* probably null Het
Trim21 A G 7: 102,559,663 V283A probably benign Het
Vmn2r16 A T 5: 109,340,082 M274L probably benign Het
Other mutations in Slc41a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Slc41a2 APN 10 83313530 unclassified probably benign
IGL02263:Slc41a2 APN 10 83313500 missense possibly damaging 0.82
IGL02338:Slc41a2 APN 10 83316591 missense possibly damaging 0.68
IGL02703:Slc41a2 APN 10 83254847 missense probably damaging 1.00
IGL03039:Slc41a2 APN 10 83283858 missense probably benign 0.37
PIT4508001:Slc41a2 UTSW 10 83254880 missense probably damaging 0.99
R0326:Slc41a2 UTSW 10 83283746 missense probably damaging 1.00
R0470:Slc41a2 UTSW 10 83316222 missense possibly damaging 0.94
R0610:Slc41a2 UTSW 10 83283728 missense possibly damaging 0.75
R1708:Slc41a2 UTSW 10 83233732 missense probably damaging 1.00
R1765:Slc41a2 UTSW 10 83301266 missense probably damaging 1.00
R1870:Slc41a2 UTSW 10 83301165 nonsense probably null
R1875:Slc41a2 UTSW 10 83256085 missense probably damaging 1.00
R2008:Slc41a2 UTSW 10 83304303 critical splice donor site probably null
R2172:Slc41a2 UTSW 10 83283774 missense probably benign 0.00
R4193:Slc41a2 UTSW 10 83301221 missense probably damaging 0.97
R4789:Slc41a2 UTSW 10 83316456 missense probably damaging 1.00
R4861:Slc41a2 UTSW 10 83316458 missense probably damaging 0.99
R4861:Slc41a2 UTSW 10 83316458 missense probably damaging 0.99
R4913:Slc41a2 UTSW 10 83313420 missense probably damaging 1.00
R5012:Slc41a2 UTSW 10 83301263 missense probably benign 0.02
R5140:Slc41a2 UTSW 10 83297291 missense probably damaging 0.98
R5189:Slc41a2 UTSW 10 83313411 splice site probably null
R5410:Slc41a2 UTSW 10 83281368 critical splice donor site probably null
R5748:Slc41a2 UTSW 10 83297159 missense probably benign 0.00
R5808:Slc41a2 UTSW 10 83313498 missense probably benign 0.29
R6124:Slc41a2 UTSW 10 83297252 missense probably damaging 1.00
R6292:Slc41a2 UTSW 10 83254926 missense probably damaging 0.99
R6511:Slc41a2 UTSW 10 83283788 missense probably damaging 0.99
R6793:Slc41a2 UTSW 10 83301158 splice site probably null
R6970:Slc41a2 UTSW 10 83316096 missense possibly damaging 0.53
R7584:Slc41a2 UTSW 10 83316789 splice site probably benign
R7752:Slc41a2 UTSW 10 83256041 missense possibly damaging 0.73
R8289:Slc41a2 UTSW 10 83301180 missense probably benign 0.06
Posted On2015-04-16