Incidental Mutation 'R6064:Slc25a33'
ID 483967
Institutional Source Beutler Lab
Gene Symbol Slc25a33
Ensembl Gene ENSMUSG00000028982
Gene Name solute carrier family 25, member 33
Synonyms Pnc1, 5730438N18Rik
MMRRC Submission 044228-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6064 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 149828493-149858734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149836921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 141 (V141A)
Ref Sequence ENSEMBL: ENSMUSP00000101311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105686]
AlphaFold Q3TZX3
Predicted Effect probably benign
Transcript: ENSMUST00000105686
AA Change: V141A

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000101311
Gene: ENSMUSG00000028982
AA Change: V141A

DomainStartEndE-ValueType
Pfam:Mito_carr 7 123 3e-25 PFAM
Pfam:Mito_carr 125 218 2.5e-22 PFAM
Pfam:Mito_carr 229 319 6.2e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129397
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146250
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 C T 5: 50,117,667 (GRCm39) D1294N probably damaging Het
Atf1 A G 15: 100,150,029 (GRCm39) T92A probably benign Het
Bach1 A G 16: 87,526,752 (GRCm39) D738G probably damaging Het
Catsper3 T C 13: 55,954,065 (GRCm39) F278L probably damaging Het
Chsy3 GT G 18: 59,309,238 (GRCm39) 163 probably null Het
Cmya5 T A 13: 93,226,157 (GRCm39) N2977I probably damaging Het
Cnbd1 T A 4: 18,895,084 (GRCm39) E219D probably benign Het
Dst A G 1: 34,233,132 (GRCm39) D3556G probably damaging Het
Duox1 A G 2: 122,151,243 (GRCm39) E306G probably benign Het
Fstl5 T A 3: 76,229,605 (GRCm39) F135L probably benign Het
Fyb1 A C 15: 6,668,349 (GRCm39) K514T probably damaging Het
Gsap T A 5: 21,434,223 (GRCm39) C280S possibly damaging Het
Lrig1 T C 6: 94,603,428 (GRCm39) E240G probably damaging Het
Macc1 A T 12: 119,409,400 (GRCm39) H56L probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Muc6 T C 7: 141,234,640 (GRCm39) R696G probably damaging Het
Nup210 T C 6: 91,032,273 (GRCm39) I32V probably benign Het
Or52n2c C T 7: 104,574,599 (GRCm39) R124H probably benign Het
Or5d16 A G 2: 87,773,828 (GRCm39) M48T probably benign Het
Or5h17 T G 16: 58,820,186 (GRCm39) I46S probably damaging Het
Ovch2 T C 7: 107,395,779 (GRCm39) T80A probably damaging Het
Rad51ap2 T A 12: 11,507,418 (GRCm39) Y447N possibly damaging Het
Rb1cc1 A G 1: 6,319,958 (GRCm39) T1126A probably benign Het
Scgb1b10 T C 7: 31,800,627 (GRCm39) L72S probably damaging Het
Tbx21 T C 11: 97,005,737 (GRCm39) Y76C probably damaging Het
Tmem235 T C 11: 117,753,764 (GRCm39) V107A possibly damaging Het
Vnn1 G T 10: 23,770,807 (GRCm39) A12S probably benign Het
Zfp606 T G 7: 12,214,960 (GRCm39) W63G possibly damaging Het
Zfp788 T A 7: 41,297,878 (GRCm39) F119L probably benign Het
Other mutations in Slc25a33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Slc25a33 APN 4 149,829,376 (GRCm39) missense probably damaging 1.00
IGL01501:Slc25a33 APN 4 149,840,615 (GRCm39) splice site probably benign
IGL03192:Slc25a33 APN 4 149,829,223 (GRCm39) missense probably damaging 1.00
IGL03265:Slc25a33 APN 4 149,846,893 (GRCm39) missense probably damaging 1.00
R2226:Slc25a33 UTSW 4 149,838,306 (GRCm39) missense probably benign 0.10
R5711:Slc25a33 UTSW 4 149,846,914 (GRCm39) missense possibly damaging 0.91
R5853:Slc25a33 UTSW 4 149,838,349 (GRCm39) missense probably benign 0.26
R8094:Slc25a33 UTSW 4 149,840,609 (GRCm39) missense probably benign 0.35
R9623:Slc25a33 UTSW 4 149,833,767 (GRCm39) missense probably benign 0.04
R9663:Slc25a33 UTSW 4 149,836,913 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCCACAATGCTGTCAGGATAG -3'
(R):5'- TGGATCTGCAGCTTCTAAGTTG -3'

Sequencing Primer
(F):5'- CACAATGCTGTCAGGATAGATCTC -3'
(R):5'- TTGCCCTAGGATTGAAATGAACCG -3'
Posted On 2017-07-14