Incidental Mutation 'IGL00927:Slc41a1'
ID 26647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc41a1
Ensembl Gene ENSMUSG00000013275
Gene Name solute carrier family 41, member 1
Synonyms B230315F01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00927
Quality Score
Status
Chromosome 1
Chromosomal Location 131755236-131776601 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131766914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 144 (L144H)
Ref Sequence ENSEMBL: ENSMUSP00000083747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086559]
AlphaFold Q8BJA2
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: 59,099,674 (GRCm39) T92A probably damaging Het
Ankhd1 A G 18: 36,765,125 (GRCm39) S1007G probably benign Het
Cabp4 A T 19: 4,189,406 (GRCm39) S50R possibly damaging Het
Camp A T 9: 109,678,336 (GRCm39) L56Q probably damaging Het
Cblb A G 16: 51,986,461 (GRCm39) N568S probably benign Het
Ccr6 C A 17: 8,474,825 (GRCm39) T10K probably benign Het
Chit1 T C 1: 134,072,992 (GRCm39) F106S probably damaging Het
Cyb561d1 A G 3: 108,106,943 (GRCm39) L34P probably damaging Het
Dcun1d1 A T 3: 35,975,114 (GRCm39) probably benign Het
Deup1 A G 9: 15,521,967 (GRCm39) probably benign Het
Erich1 A G 8: 14,083,518 (GRCm39) F184S probably damaging Het
Fmnl3 A G 15: 99,235,509 (GRCm39) probably null Het
Grk2 T C 19: 4,337,982 (GRCm39) N508S probably benign Het
Herc4 A G 10: 63,109,316 (GRCm39) I184V probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ift56 T C 6: 38,359,155 (GRCm39) probably benign Het
Kif3b G A 2: 153,158,381 (GRCm39) A61T possibly damaging Het
Kmt2d G A 15: 98,742,890 (GRCm39) probably benign Het
Lrrc7 C A 3: 157,866,727 (GRCm39) V1005L possibly damaging Het
Lrrtm1 A T 6: 77,221,046 (GRCm39) M168L probably benign Het
Ndc1 C T 4: 107,241,977 (GRCm39) probably benign Het
Nphs1 A G 7: 30,160,164 (GRCm39) probably benign Het
Or52w1 A T 7: 105,018,454 (GRCm39) Y298F probably damaging Het
Pbld2 T C 10: 62,907,734 (GRCm39) V200A probably benign Het
Pcdhb21 A G 18: 37,647,606 (GRCm39) Y245C probably damaging Het
Pcm1 A G 8: 41,740,918 (GRCm39) T1055A probably damaging Het
Plcl2 C T 17: 50,913,948 (GRCm39) S319L probably benign Het
Plekha8 C A 6: 54,606,822 (GRCm39) Y372* probably null Het
Ralb T A 1: 119,399,506 (GRCm39) N184I probably benign Het
Robo3 C T 9: 37,339,050 (GRCm39) probably null Het
Smg1 C T 7: 117,739,855 (GRCm39) G3364D probably damaging Het
Spmap2 A G 10: 79,412,433 (GRCm39) S329P probably damaging Het
Vmn1r123 T A 7: 20,896,216 (GRCm39) V36D possibly damaging Het
Zbtb7c T C 18: 76,278,921 (GRCm39) S460P possibly damaging Het
Zscan30 T C 18: 24,104,834 (GRCm39) noncoding transcript Het
Other mutations in Slc41a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Slc41a1 APN 1 131,766,862 (GRCm39) missense probably damaging 0.99
R0255:Slc41a1 UTSW 1 131,771,650 (GRCm39) splice site probably benign
R0737:Slc41a1 UTSW 1 131,768,690 (GRCm39) missense probably damaging 1.00
R1367:Slc41a1 UTSW 1 131,771,746 (GRCm39) missense probably benign
R1474:Slc41a1 UTSW 1 131,774,319 (GRCm39) missense probably damaging 0.98
R1927:Slc41a1 UTSW 1 131,768,938 (GRCm39) missense probably damaging 0.99
R4518:Slc41a1 UTSW 1 131,766,863 (GRCm39) missense probably damaging 0.99
R4790:Slc41a1 UTSW 1 131,758,690 (GRCm39) missense probably damaging 1.00
R4851:Slc41a1 UTSW 1 131,758,508 (GRCm39) missense probably benign 0.02
R5180:Slc41a1 UTSW 1 131,772,115 (GRCm39) missense probably damaging 0.99
R5633:Slc41a1 UTSW 1 131,774,325 (GRCm39) missense possibly damaging 0.68
R6060:Slc41a1 UTSW 1 131,767,972 (GRCm39) missense probably benign 0.04
R6526:Slc41a1 UTSW 1 131,768,887 (GRCm39) missense probably damaging 1.00
R6787:Slc41a1 UTSW 1 131,770,487 (GRCm39) splice site probably null
R7038:Slc41a1 UTSW 1 131,769,795 (GRCm39) missense possibly damaging 0.60
R7258:Slc41a1 UTSW 1 131,769,780 (GRCm39) missense probably benign 0.27
R7382:Slc41a1 UTSW 1 131,774,370 (GRCm39) missense probably damaging 1.00
R7405:Slc41a1 UTSW 1 131,766,884 (GRCm39) missense probably damaging 1.00
R7432:Slc41a1 UTSW 1 131,758,694 (GRCm39) missense probably damaging 1.00
R7574:Slc41a1 UTSW 1 131,766,889 (GRCm39) missense probably damaging 1.00
R7873:Slc41a1 UTSW 1 131,758,561 (GRCm39) missense possibly damaging 0.62
R7942:Slc41a1 UTSW 1 131,768,635 (GRCm39) missense probably damaging 0.99
R7956:Slc41a1 UTSW 1 131,771,766 (GRCm39) missense possibly damaging 0.53
R9040:Slc41a1 UTSW 1 131,768,623 (GRCm39) missense probably damaging 0.98
R9435:Slc41a1 UTSW 1 131,766,896 (GRCm39) missense probably damaging 1.00
R9723:Slc41a1 UTSW 1 131,772,103 (GRCm39) missense possibly damaging 0.94
Z1177:Slc41a1 UTSW 1 131,771,724 (GRCm39) missense probably benign
Z1189:Slc41a1 UTSW 1 131,767,972 (GRCm39) missense probably benign 0.04
Z1192:Slc41a1 UTSW 1 131,767,972 (GRCm39) missense probably benign 0.04
Posted On 2013-04-17