Incidental Mutation 'R9347:Slc25a35'
ID 707871
Institutional Source Beutler Lab
Gene Symbol Slc25a35
Ensembl Gene ENSMUSG00000018740
Gene Name solute carrier family 25, member 35
Synonyms 1810012H11Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9347 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 68858954-68863342 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 68862076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 170 (V170L)
Ref Sequence ENSEMBL: ENSMUSP00000099666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018884] [ENSMUST00000038644] [ENSMUST00000102606]
AlphaFold Q5SWT3
Predicted Effect probably benign
Transcript: ENSMUST00000018884
AA Change: V166L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018884
Gene: ENSMUSG00000018740
AA Change: V166L

DomainStartEndE-ValueType
Pfam:Mito_carr 1 90 4.5e-20 PFAM
Pfam:Mito_carr 98 193 2.2e-16 PFAM
Pfam:Mito_carr 197 295 6.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038644
SMART Domains Protein: ENSMUSP00000038485
Gene: ENSMUSG00000032892

DomainStartEndE-ValueType
Pfam:Mog1 7 145 1.3e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102606
AA Change: V170L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099666
Gene: ENSMUSG00000018740
AA Change: V170L

DomainStartEndE-ValueType
Pfam:Mito_carr 1 92 7.9e-17 PFAM
Pfam:Mito_carr 98 197 1.2e-16 PFAM
Pfam:Mito_carr 202 299 8.6e-18 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A35 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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,483,479 (GRCm39) M1659K probably benign Het
Ace C A 11: 105,864,958 (GRCm39) Q544K probably damaging Het
Agpat4 A G 17: 12,429,168 (GRCm39) E140G possibly damaging Het
Akap12 A G 10: 4,303,640 (GRCm39) D150G probably benign Het
Akap6 A G 12: 53,115,894 (GRCm39) Y999C probably damaging Het
Ank1 A G 8: 23,607,076 (GRCm39) I1326V possibly damaging Het
Apold1 T A 6: 134,960,999 (GRCm39) L151Q probably damaging Het
Bmal1 A G 7: 112,898,487 (GRCm39) D305G possibly damaging Het
Brsk2 A G 7: 141,552,133 (GRCm39) S564G probably damaging Het
Ceacam18 T C 7: 43,294,915 (GRCm39) V325A possibly damaging Het
Clstn2 T C 9: 97,464,654 (GRCm39) Y167C probably damaging Het
Cyp11a1 G T 9: 57,928,141 (GRCm39) V324L possibly damaging Het
Ddx27 A G 2: 166,861,950 (GRCm39) T151A possibly damaging Het
Dhrs4 A G 14: 55,727,306 (GRCm39) I252M possibly damaging Het
Dlg2 A G 7: 91,360,900 (GRCm39) D6G probably benign Het
Dnah8 G A 17: 30,927,333 (GRCm39) E1330K probably benign Het
Ehd3 A G 17: 74,137,391 (GRCm39) E520G probably benign Het
Epha5 A G 5: 84,479,731 (GRCm39) V91A possibly damaging Het
Fam20c C A 5: 138,743,676 (GRCm39) H237Q probably benign Het
Fam217a C T 13: 35,094,662 (GRCm39) G366S probably damaging Het
Fancf T C 7: 51,511,359 (GRCm39) E215G probably benign Het
Fermt3 A T 19: 6,980,664 (GRCm39) I301N probably damaging Het
Fyco1 A T 9: 123,660,350 (GRCm39) probably null Het
Gen1 T C 12: 11,311,068 (GRCm39) N55D probably damaging Het
Gm20604 A T 12: 102,709,636 (GRCm39) C75S unknown Het
Gm3045 T A 13: 56,578,160 (GRCm39) V199D unknown Het
Gm49368 A G 7: 127,712,178 (GRCm39) T805A possibly damaging Het
Hgf T C 5: 16,809,921 (GRCm39) probably null Het
Hnrnpul2 T A 19: 8,798,080 (GRCm39) H145Q probably benign Het
Ift140 A G 17: 25,313,753 (GRCm39) M1395V probably benign Het
Il17rc T G 6: 113,457,780 (GRCm39) probably null Het
Kansl1l T A 1: 66,840,347 (GRCm39) T318S probably benign Het
Kcnc1 A T 7: 46,077,034 (GRCm39) N279Y probably damaging Het
Khdrbs2 T A 1: 32,511,828 (GRCm39) H264Q probably benign Het
Klf12 A G 14: 100,260,144 (GRCm39) V195A possibly damaging Het
Lhfpl2 A G 13: 94,328,539 (GRCm39) E200G probably damaging Het
Lmna T C 3: 88,393,548 (GRCm39) D300G probably damaging Het
Lrif1 A G 3: 106,641,674 (GRCm39) T17A possibly damaging Het
Mdm1 A G 10: 117,982,523 (GRCm39) I53V probably damaging Het
Mga T A 2: 119,733,518 (GRCm39) I122N probably damaging Het
Mos A G 4: 3,871,763 (GRCm39) S18P probably benign Het
Mterf3 C T 13: 67,062,852 (GRCm39) V295I possibly damaging Het
Muc16 G A 9: 18,571,511 (GRCm39) T336I unknown Het
Myo15a T C 11: 60,374,555 (GRCm39) S136P Het
Nav3 T A 10: 109,738,955 (GRCm39) I128F probably damaging Het
Nphs1 A G 7: 30,170,594 (GRCm39) D928G probably damaging Het
Or52z15 A G 7: 103,332,464 (GRCm39) I180V probably damaging Het
Or5b114-ps1 A T 19: 13,352,553 (GRCm39) T76S possibly damaging Het
Or5m13b T A 2: 85,753,819 (GRCm39) V69E probably damaging Het
Or5p70 A G 7: 107,995,259 (GRCm39) K311E probably benign Het
Or8u10 T C 2: 85,915,911 (GRCm39) D70G possibly damaging Het
Parvb T C 15: 84,155,523 (GRCm39) probably null Het
Patj A C 4: 98,576,484 (GRCm39) E574A probably benign Het
Ppp2r1a A G 17: 21,181,877 (GRCm39) N465S probably benign Het
Pramel34 T A 5: 93,786,697 (GRCm39) E24V probably damaging Het
Senp6 A G 9: 80,046,379 (GRCm39) K950E possibly damaging Het
Septin12 T C 16: 4,805,481 (GRCm39) H304R probably damaging Het
Septin3 T C 15: 82,167,914 (GRCm39) V110A probably damaging Het
Slco3a1 A T 7: 73,934,153 (GRCm39) L673Q possibly damaging Het
Smim35 A G 9: 45,154,271 (GRCm39) N44S possibly damaging Het
Tcp1 A G 17: 13,136,687 (GRCm39) M23V probably benign Het
Thg1l T C 11: 45,845,288 (GRCm39) probably benign Het
Tiam2 G A 17: 3,471,923 (GRCm39) E522K probably benign Het
Tie1 G A 4: 118,341,867 (GRCm39) T194I possibly damaging Het
Vmn2r49 T A 7: 9,718,674 (GRCm39) E463D probably benign Het
Wdr1 C A 5: 38,697,355 (GRCm39) probably null Het
Zbtb38 A T 9: 96,567,649 (GRCm39) M1145K probably damaging Het
Other mutations in Slc25a35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03105:Slc25a35 APN 11 68,859,496 (GRCm39) missense probably damaging 1.00
IGL03146:Slc25a35 APN 11 68,859,678 (GRCm39) missense possibly damaging 0.90
R0131:Slc25a35 UTSW 11 68,862,786 (GRCm39) missense probably damaging 1.00
R0131:Slc25a35 UTSW 11 68,862,786 (GRCm39) missense probably damaging 1.00
R0132:Slc25a35 UTSW 11 68,862,786 (GRCm39) missense probably damaging 1.00
R2130:Slc25a35 UTSW 11 68,859,791 (GRCm39) missense possibly damaging 0.88
R6425:Slc25a35 UTSW 11 68,859,591 (GRCm39) missense possibly damaging 0.88
R8119:Slc25a35 UTSW 11 68,862,798 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TACCTCCAGCCTGAACTCTG -3'
(R):5'- ACTTTTGAACCAGGGCCCAC -3'

Sequencing Primer
(F):5'- TATCAGCAGACACCTGAGGGC -3'
(R):5'- GGGCCCACCTCCCTTTTTC -3'
Posted On 2022-04-18