Incidental Mutation 'IGL03179:Slc25a14'
ID 412122
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a14
Ensembl Gene ENSMUSG00000031105
Gene Name solute carrier family 25 (mitochondrial carrier, brain), member 14
Synonyms BMCP1, UCP5, UCP5S, UCP5L
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03179
Quality Score
Status
Chromosome X
Chromosomal Location 47712333-47751171 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47726317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 152 (S152P)
Ref Sequence ENSEMBL: ENSMUSP00000033431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033431] [ENSMUST00000114936] [ENSMUST00000134257] [ENSMUST00000134757] [ENSMUST00000177710]
AlphaFold Q9Z2B2
Predicted Effect probably benign
Transcript: ENSMUST00000033431
AA Change: S152P

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000033431
Gene: ENSMUSG00000031105
AA Change: S152P

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Mito_carr 34 133 5.4e-24 PFAM
Pfam:Mito_carr 134 225 5.6e-23 PFAM
Pfam:Mito_carr 229 322 1.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114936
AA Change: S155P

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000110586
Gene: ENSMUSG00000031105
AA Change: S155P

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Mito_carr 37 136 5.4e-24 PFAM
Pfam:Mito_carr 137 228 5.7e-23 PFAM
Pfam:Mito_carr 232 325 1.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134257
AA Change: S120P

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000120332
Gene: ENSMUSG00000031105
AA Change: S120P

DomainStartEndE-ValueType
Pfam:Mito_carr 3 101 2.4e-23 PFAM
Pfam:Mito_carr 102 193 2.4e-22 PFAM
Pfam:Mito_carr 197 290 6.8e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153047
Predicted Effect probably benign
Transcript: ENSMUST00000177710
AA Change: S155P

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000136140
Gene: ENSMUSG00000031105
AA Change: S155P

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Mito_carr 38 136 3.4e-24 PFAM
Pfam:Mito_carr 137 228 1.4e-22 PFAM
Pfam:Mito_carr 232 325 1.1e-22 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). Uncoupling proteins separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. Uncoupling proteins facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. This gene is widely expressed in many tissues with the greatest abundance in brain and testis. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 4. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T A 14: 78,745,180 (GRCm39) H1736L probably benign Het
App A G 16: 84,879,735 (GRCm39) C133R probably damaging Het
Atxn7l2 G T 3: 108,110,963 (GRCm39) C524* probably null Het
Cckbr T C 7: 105,084,130 (GRCm39) V288A probably benign Het
Ccr1l1 T C 9: 123,777,787 (GRCm39) Y220C probably damaging Het
Cdc42se2 A T 11: 54,614,417 (GRCm39) F47I possibly damaging Het
Cep290 T A 10: 100,403,950 (GRCm39) I2317N possibly damaging Het
Chrnd T C 1: 87,123,502 (GRCm39) S347P probably damaging Het
Clcn5 T A X: 7,029,565 (GRCm39) probably null Het
D6Wsu163e A G 6: 126,927,074 (GRCm39) D187G probably damaging Het
Dnajc13 T A 9: 104,044,634 (GRCm39) I1852F probably benign Het
Ecpas C T 4: 58,832,777 (GRCm39) G861D probably damaging Het
Fcnb A G 2: 27,966,646 (GRCm39) S296P possibly damaging Het
Fut2 C T 7: 45,300,073 (GRCm39) R233K probably benign Het
Gm21985 G A 2: 112,188,900 (GRCm39) V1078I possibly damaging Het
Gpc3 A T X: 51,486,090 (GRCm39) probably benign Het
Krt10 A G 11: 99,280,044 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,584,781 (GRCm39) E370G probably damaging Het
Myo5c A T 9: 75,163,148 (GRCm39) I326F possibly damaging Het
Neb A T 2: 52,066,653 (GRCm39) L5906Q probably damaging Het
Nrdc A T 4: 108,903,888 (GRCm39) probably benign Het
Nrip2 A G 6: 128,381,938 (GRCm39) N17S possibly damaging Het
Or51f2 T C 7: 102,527,279 (GRCm39) probably benign Het
Or6s1 T C 14: 51,308,467 (GRCm39) I128V probably benign Het
P2rx7 A G 5: 122,811,763 (GRCm39) Y358C possibly damaging Het
Pex10 A C 4: 155,152,354 (GRCm39) I61L probably benign Het
Phax T C 18: 56,713,364 (GRCm39) F248L probably damaging Het
Phtf2 A T 5: 20,987,397 (GRCm39) D366E probably damaging Het
Pnpo A G 11: 96,830,085 (GRCm39) Y205H possibly damaging Het
Pparg T A 6: 115,416,833 (GRCm39) W9R probably damaging Het
Ppp4r3c2 G A X: 88,796,434 (GRCm39) G89S possibly damaging Het
Prex1 C T 2: 166,427,114 (GRCm39) S867N probably benign Het
Pyroxd2 T A 19: 42,736,001 (GRCm39) N59I possibly damaging Het
Rnf135 T A 11: 80,084,837 (GRCm39) S203R possibly damaging Het
Sall1 T A 8: 89,758,289 (GRCm39) N605I probably benign Het
Scara3 C T 14: 66,168,603 (GRCm39) R338H probably damaging Het
Strip1 A T 3: 107,527,571 (GRCm39) F436I probably damaging Het
Tgfa T C 6: 86,248,403 (GRCm39) L135P probably benign Het
Tgif1 T C 17: 71,151,942 (GRCm39) Q170R possibly damaging Het
Tmc2 G A 2: 130,071,107 (GRCm39) E279K probably damaging Het
Tnks G T 8: 35,315,824 (GRCm39) N987K probably benign Het
Traf3ip3 T C 1: 192,876,676 (GRCm39) E209G probably damaging Het
Vmn2r73 T A 7: 85,519,468 (GRCm39) I497L probably benign Het
Wrn C A 8: 33,800,734 (GRCm39) probably null Het
Zcchc24 T C 14: 25,720,086 (GRCm39) I193V possibly damaging Het
Other mutations in Slc25a14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1936:Slc25a14 UTSW X 47,740,840 (GRCm39) missense probably benign 0.00
R1937:Slc25a14 UTSW X 47,740,840 (GRCm39) missense probably benign 0.00
R1940:Slc25a14 UTSW X 47,740,840 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02