Incidental Mutation 'IGL03039:Slc41a2'
ID408826
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 #IGL03039
Quality Score
Status
Chromosome10
Chromosomal Location83230848-83337882 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83283858 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 347 (Y347H)
Ref Sequence ENSEMBL: ENSMUSP00000036690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039956]
Predicted Effect probably benign
Transcript: ENSMUST00000039956
AA Change: Y347H

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000036690
Gene: ENSMUSG00000034591
AA Change: Y347H

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182L06Rik A G 5: 9,418,055 E241G probably benign Het
Adam6b T C 12: 113,490,882 C440R probably damaging Het
Agbl2 A G 2: 90,801,222 D308G possibly damaging Het
Cfh G T 1: 140,136,261 Q408K possibly damaging Het
Chrna7 A G 7: 63,148,592 L114P probably damaging Het
Defa35 G A 8: 21,065,823 C66Y probably damaging Het
Dnah12 C A 14: 26,724,512 Q743K probably benign Het
Esco2 T C 14: 65,831,418 K148E probably damaging Het
Gm17079 T A 14: 51,693,061 E109V probably damaging Het
Herc2 T A 7: 56,169,021 probably benign Het
Igkv1-88 T C 6: 68,862,292 Y112C possibly damaging Het
Igkv4-50 T C 6: 69,701,058 R21G probably benign Het
Kbtbd11 A G 8: 15,027,467 D22G probably benign Het
Kcnb2 A G 1: 15,711,211 D769G probably benign Het
Kdm2b C A 5: 122,881,671 W817L probably benign Het
Myo18b A G 5: 112,840,771 V983A probably damaging Het
Nr1d2 A T 14: 18,215,184 M276K probably benign Het
Olfr1129 T A 2: 87,575,192 M36K probably benign Het
Olfr320 T A 11: 58,684,011 V46D probably damaging Het
Phf20 T C 2: 156,298,541 Y712H probably damaging Het
Phkg2 T A 7: 127,579,694 Y27* probably null Het
Pomt2 C A 12: 87,110,366 L726F probably benign Het
Setd3 T C 12: 108,162,970 probably null Het
Skint4 T C 4: 112,124,650 V272A probably benign Het
Slc45a2 T C 15: 11,012,687 S259P probably benign Het
Tgfbr3 A C 5: 107,177,799 probably benign Het
Tgfbrap1 A T 1: 43,075,928 I4N possibly damaging Het
Trh C A 6: 92,243,728 R51L probably damaging Het
Vars2 A T 17: 35,664,121 V312E probably damaging Het
Wdfy2 T C 14: 62,948,720 V268A 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
IGL02680:Slc41a2 APN 10 83283864 missense probably benign 0.20
IGL02703:Slc41a2 APN 10 83254847 missense probably damaging 1.00
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 On2016-08-02