Incidental Mutation 'IGL02987:Slc25a54'
ID406777
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a54
Ensembl Gene ENSMUSG00000027880
Gene Namesolute carrier family 25, member 54
Synonyms4930443G12Rik, SCaMC-1like
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.237) question?
Stock #IGL02987
Quality Score
Status
Chromosome3
Chromosomal Location109080469-109116687 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 109116337 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 416 (V416A)
Ref Sequence ENSEMBL: ENSMUSP00000029478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029478] [ENSMUST00000159926]
Predicted Effect probably benign
Transcript: ENSMUST00000029478
AA Change: V416A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029478
Gene: ENSMUSG00000027880
AA Change: V416A

DomainStartEndE-ValueType
EFh 23 51 4.28e0 SMART
EFh 59 87 3.82e0 SMART
EFh 90 118 4.12e-3 SMART
EFh 126 154 3.44e1 SMART
Pfam:Mito_carr 191 283 3.7e-25 PFAM
Pfam:Mito_carr 284 376 7.2e-24 PFAM
Pfam:Mito_carr 383 472 2.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159926
SMART Domains Protein: ENSMUSP00000124484
Gene: ENSMUSG00000027880

DomainStartEndE-ValueType
Blast:EFh 1 21 6e-9 BLAST
Pfam:Mito_carr 57 150 3.2e-26 PFAM
Pfam:Mito_carr 151 243 3.6e-25 PFAM
Pfam:Mito_carr 249 339 1.5e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196653
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198512
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1e1 T C 13: 4,593,592 D222G probably damaging Het
Apbb1ip T A 2: 22,867,637 Y422* probably null Het
Asf1a T C 10: 53,597,271 F28L probably damaging Het
Atp6v1c1 T A 15: 38,690,562 M319K possibly damaging Het
Bsn A G 9: 108,126,304 S301P probably benign Het
Cds1 A G 5: 101,812,525 I281V possibly damaging Het
Col4a4 T C 1: 82,498,925 probably benign Het
Coq2 G A 5: 100,663,688 Q103* probably null Het
Dgkh A G 14: 78,589,872 probably null Het
Dnah9 C A 11: 65,841,273 R4269L probably benign Het
Dnah9 A G 11: 65,855,272 I4005T probably damaging Het
F2rl1 T A 13: 95,514,233 Q47L probably benign Het
Fhod3 T C 18: 25,113,553 V1272A possibly damaging Het
Gdpd4 T C 7: 97,961,551 probably benign Het
Gfral A G 9: 76,197,301 V143A possibly damaging Het
Gltp A C 5: 114,674,182 F88V probably benign Het
Hectd1 T G 12: 51,744,767 K2565T probably damaging Het
Jade2 A G 11: 51,830,481 S207P probably damaging Het
Khdc3 A G 9: 73,102,666 I53V possibly damaging Het
Lce1a1 T C 3: 92,647,102 T22A unknown Het
Lgals9 A T 11: 78,967,477 H196Q possibly damaging Het
Lrrc37a A T 11: 103,500,413 N1395K probably benign Het
Mast1 C T 8: 84,925,719 V268I possibly damaging Het
Myh11 T G 16: 14,232,532 E523A probably damaging Het
Napb T C 2: 148,697,511 probably null Het
Nlrp4e G A 7: 23,301,433 R51H probably damaging Het
Ola1 T C 2: 73,156,898 D130G probably benign Het
Olfr891 A T 9: 38,180,623 S67T possibly damaging Het
Pard3 G A 8: 127,389,491 C687Y probably damaging Het
Rassf9 A G 10: 102,545,248 T164A possibly damaging Het
Sema3a A G 5: 13,565,896 Y429C probably damaging Het
Slc30a5 T C 13: 100,803,915 T631A probably damaging Het
Sorl1 A T 9: 42,041,053 C736S probably damaging Het
Tet3 A T 6: 83,368,092 S1788T probably damaging Het
Trim42 A G 9: 97,365,815 V276A probably benign Het
Other mutations in Slc25a54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Slc25a54 APN 3 109112860 missense possibly damaging 0.76
IGL02635:Slc25a54 APN 3 109112817 missense possibly damaging 0.71
IGL02944:Slc25a54 APN 3 109080615 missense probably benign 0.14
IGL03346:Slc25a54 APN 3 109085730 intron probably benign
R0491:Slc25a54 UTSW 3 109102796 missense probably damaging 1.00
R0520:Slc25a54 UTSW 3 109107230 splice site probably benign
R0645:Slc25a54 UTSW 3 109112165 missense possibly damaging 0.70
R1803:Slc25a54 UTSW 3 109102697 missense probably benign
R1869:Slc25a54 UTSW 3 109080616 nonsense probably null
R1870:Slc25a54 UTSW 3 109080616 nonsense probably null
R3024:Slc25a54 UTSW 3 109080666 missense probably damaging 1.00
R3763:Slc25a54 UTSW 3 109112054 missense probably damaging 1.00
R3930:Slc25a54 UTSW 3 109116504 missense probably benign 0.03
R3941:Slc25a54 UTSW 3 109112163 missense probably damaging 1.00
R4346:Slc25a54 UTSW 3 109102739 missense possibly damaging 0.52
R4347:Slc25a54 UTSW 3 109102739 missense possibly damaging 0.52
R4445:Slc25a54 UTSW 3 109098668 missense probably benign 0.00
R4735:Slc25a54 UTSW 3 109098607 missense probably damaging 0.96
R4914:Slc25a54 UTSW 3 109111079 missense probably benign 0.34
R4960:Slc25a54 UTSW 3 109112816 missense possibly damaging 0.95
R5052:Slc25a54 UTSW 3 109102700 missense probably benign 0.03
R5106:Slc25a54 UTSW 3 109112864 missense probably benign 0.02
R5806:Slc25a54 UTSW 3 109080578 missense probably benign
R5936:Slc25a54 UTSW 3 109098638 missense possibly damaging 0.88
R6511:Slc25a54 UTSW 3 109094256 missense possibly damaging 0.92
R6532:Slc25a54 UTSW 3 109112052 missense probably damaging 1.00
R6879:Slc25a54 UTSW 3 109112834 missense possibly damaging 0.94
R7139:Slc25a54 UTSW 3 109098589 missense probably damaging 1.00
R7179:Slc25a54 UTSW 3 109107257 missense probably benign 0.00
R7282:Slc25a54 UTSW 3 109116501 nonsense probably null
R7336:Slc25a54 UTSW 3 109116435 missense probably benign 0.00
R7355:Slc25a54 UTSW 3 109102769 missense probably damaging 1.00
R7713:Slc25a54 UTSW 3 109102817 missense probably damaging 0.99
R8061:Slc25a54 UTSW 3 109111045 missense probably damaging 1.00
R8282:Slc25a54 UTSW 3 109098689 critical splice donor site probably null
Z1176:Slc25a54 UTSW 3 109112118 frame shift probably null
Z1177:Slc25a54 UTSW 3 109102797 missense probably damaging 1.00
Posted On2016-08-02