Incidental Mutation 'IGL01368:Slc41a1'
ID76023
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc41a1
Ensembl Gene ENSMUSG00000013275
Gene Namesolute carrier family 41, member 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01368
Quality Score
Status
Chromosome1
Chromosomal Location131827493-131848865 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 131839124 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 127 (V127I)
Ref Sequence ENSEMBL: ENSMUSP00000083747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086559]
Predicted Effect probably damaging
Transcript: ENSMUST00000086559
AA Change: V127I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000083747
Gene: ENSMUSG00000013275
AA Change: V127I

DomainStartEndE-ValueType
transmembrane domain 97 119 N/A INTRINSIC
Pfam:MgtE 138 272 1.9e-25 PFAM
transmembrane domain 283 305 N/A INTRINSIC
transmembrane domain 314 336 N/A INTRINSIC
Pfam:MgtE 352 496 1.3e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146360
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T A 14: 103,051,334 D93E probably damaging Het
Adam22 T C 5: 8,127,411 Y566C probably damaging Het
Atp8b3 G A 10: 80,534,229 probably benign Het
Babam1 T A 8: 71,398,406 D104E probably damaging Het
Bcl2a1a T A 9: 88,957,447 W133R probably damaging Het
Ckm C T 7: 19,416,787 Q184* probably null Het
Clk4 T A 11: 51,281,172 Y246* probably null Het
Cyp3a57 T C 5: 145,369,068 S121P probably damaging Het
Gm5039 C T 12: 88,321,088 D132N unknown Het
Gm5771 A G 6: 41,396,686 D161G possibly damaging Het
Gm8011 T C 14: 42,465,874 probably benign Het
Gpr153 T C 4: 152,282,994 F434S probably benign Het
Gpr158 G T 2: 21,827,098 W1003L probably damaging Het
Ighv5-9-1 T C 12: 113,736,390 E34G probably damaging Het
Igkv16-104 G T 6: 68,425,610 R2S possibly damaging Het
Map3k3 T C 11: 106,150,389 F395L probably benign Het
Myof T A 19: 37,936,457 T1161S probably damaging Het
Nlrp9a T C 7: 26,557,874 S217P probably damaging Het
Nol9 T A 4: 152,058,391 N687K probably benign Het
Olfr287 T C 15: 98,207,500 I295V probably damaging Het
Olfr697 T C 7: 106,741,622 E104G probably benign Het
Olfr748 T C 14: 50,710,993 V221A possibly damaging Het
Olfr952 A T 9: 39,426,180 V297D probably damaging Het
Rrh T C 3: 129,808,969 D229G probably benign Het
Sclt1 T C 3: 41,711,175 T153A probably damaging Het
Smarca2 C T 19: 26,774,294 S214L possibly damaging Het
Tmem63a T C 1: 180,970,232 V616A possibly damaging Het
Ubr1 A G 2: 120,941,131 probably benign Het
Vmn1r228 A G 17: 20,776,512 L248P probably benign Het
Zdhhc16 T A 19: 41,941,506 probably null Het
Other mutations in Slc41a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Slc41a1 APN 1 131839176 missense probably damaging 1.00
R0255:Slc41a1 UTSW 1 131843912 splice site probably benign
R0737:Slc41a1 UTSW 1 131840952 missense probably damaging 1.00
R1367:Slc41a1 UTSW 1 131844008 missense probably benign
R1474:Slc41a1 UTSW 1 131846581 missense probably damaging 0.98
R1927:Slc41a1 UTSW 1 131841200 missense probably damaging 0.99
R4518:Slc41a1 UTSW 1 131839125 missense probably damaging 0.99
R4790:Slc41a1 UTSW 1 131830952 missense probably damaging 1.00
R4851:Slc41a1 UTSW 1 131830770 missense probably benign 0.02
R5180:Slc41a1 UTSW 1 131844377 missense probably damaging 0.99
R5633:Slc41a1 UTSW 1 131846587 missense possibly damaging 0.68
R6060:Slc41a1 UTSW 1 131840234 missense probably benign 0.04
R6526:Slc41a1 UTSW 1 131841149 missense probably damaging 1.00
R6787:Slc41a1 UTSW 1 131842749 intron probably null
R7038:Slc41a1 UTSW 1 131842057 missense possibly damaging 0.60
R7258:Slc41a1 UTSW 1 131842042 missense probably benign 0.27
R7382:Slc41a1 UTSW 1 131846632 missense probably damaging 1.00
R7405:Slc41a1 UTSW 1 131839146 missense probably damaging 1.00
R7432:Slc41a1 UTSW 1 131830956 missense probably damaging 1.00
R7574:Slc41a1 UTSW 1 131839151 missense probably damaging 1.00
R7873:Slc41a1 UTSW 1 131830823 missense possibly damaging 0.62
R7942:Slc41a1 UTSW 1 131840897 missense probably damaging 0.99
R7956:Slc41a1 UTSW 1 131844028 missense possibly damaging 0.53
Z1177:Slc41a1 UTSW 1 131843986 missense probably benign
Posted On2013-10-07