Incidental Mutation 'IGL00927:Slc41a1'
ID26647
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 #IGL00927
Quality Score
Status
Chromosome1
Chromosomal Location131827493-131848865 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 131839176 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 144 (L144H)
Ref Sequence ENSEMBL: ENSMUSP00000083747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086559]
Predicted Effect probably damaging
Transcript: ENSMUST00000086559
AA Change: L144H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083747
Gene: ENSMUSG00000013275
AA Change: L144H

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,208,848 T92A probably damaging Het
Ankhd1 A G 18: 36,632,072 S1007G probably benign Het
Cabp4 A T 19: 4,139,407 S50R possibly damaging Het
Camp A T 9: 109,849,268 L56Q probably damaging Het
Cblb A G 16: 52,166,098 N568S probably benign Het
Ccr6 C A 17: 8,255,993 T10K probably benign Het
Chit1 T C 1: 134,145,254 F106S probably damaging Het
Cyb561d1 A G 3: 108,199,627 L34P probably damaging Het
Dcun1d1 A T 3: 35,920,965 probably benign Het
Deup1 A G 9: 15,610,671 probably benign Het
Erich1 A G 8: 14,033,518 F184S probably damaging Het
Fmnl3 A G 15: 99,337,628 probably null Het
Grk2 T C 19: 4,287,954 N508S probably benign Het
Herc4 A G 10: 63,273,537 I184V probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kif3b G A 2: 153,316,461 A61T possibly damaging Het
Kmt2d G A 15: 98,845,009 probably benign Het
Lrrc7 C A 3: 158,161,090 V1005L possibly damaging Het
Lrrtm1 A T 6: 77,244,063 M168L probably benign Het
Ndc1 C T 4: 107,384,780 probably benign Het
Nphs1 A G 7: 30,460,739 probably benign Het
Olfr692 A T 7: 105,369,247 Y298F probably damaging Het
Pbld2 T C 10: 63,071,955 V200A probably benign Het
Pcdhb21 A G 18: 37,514,553 Y245C probably damaging Het
Pcm1 A G 8: 41,287,881 T1055A probably damaging Het
Plcl2 C T 17: 50,606,920 S319L probably benign Het
Plekha8 C A 6: 54,629,837 Y372* probably null Het
Ralb T A 1: 119,471,776 N184I probably benign Het
Robo3 C T 9: 37,427,754 probably null Het
Smg1 C T 7: 118,140,632 G3364D probably damaging Het
Theg A G 10: 79,576,599 S329P probably damaging Het
Ttc26 T C 6: 38,382,220 probably benign Het
Vmn1r123 T A 7: 21,162,291 V36D possibly damaging Het
Zbtb7c T C 18: 76,145,850 S460P possibly damaging Het
Zscan30 T C 18: 23,971,777 noncoding transcript Het
Other mutations in Slc41a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Slc41a1 APN 1 131839124 missense probably damaging 0.99
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
R7956:Slc41a1 UTSW 1 131830823 missense possibly damaging 0.62
Z1177:Slc41a1 UTSW 1 131843986 missense probably benign
Posted On2013-04-17