Incidental Mutation 'R0747:Slc25a1'
ID 70208
Institutional Source Beutler Lab
Gene Symbol Slc25a1
Ensembl Gene ENSMUSG00000003528
Gene Name solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1
Synonyms Slc20a3, Dgsj, 1300019P08Rik, 2610100G11Rik
MMRRC Submission 038928-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0747 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 17743087-17746083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 17744084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 239 (T239K)
Ref Sequence ENSEMBL: ENSMUSP00000003622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003622]
AlphaFold Q8JZU2
Predicted Effect probably damaging
Transcript: ENSMUST00000003622
AA Change: T239K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000003622
Gene: ENSMUSG00000003528
AA Change: T239K

DomainStartEndE-ValueType
Pfam:Mito_carr 21 116 2.1e-22 PFAM
Pfam:Mito_carr 118 213 9.7e-19 PFAM
Pfam:Mito_carr 216 308 5.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129270
Predicted Effect unknown
Transcript: ENSMUST00000131507
AA Change: T124K
SMART Domains Protein: ENSMUSP00000123613
Gene: ENSMUSG00000003528
AA Change: T124K

DomainStartEndE-ValueType
Pfam:Mito_carr 14 99 1.2e-12 PFAM
Pfam:Mito_carr 102 194 5.7e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193194
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 A T 11: 46,009,322 (GRCm39) probably null Het
Anks4b C T 7: 119,781,386 (GRCm39) A139V probably damaging Het
Arf1 G A 11: 59,103,461 (GRCm39) R149C probably benign Het
Axl A T 7: 25,463,484 (GRCm39) C598S possibly damaging Het
B3gnt2 T C 11: 22,786,316 (GRCm39) I291V possibly damaging Het
Ccdc158 T A 5: 92,781,156 (GRCm39) H883L probably benign Het
Cep15 T A 14: 12,287,287 (GRCm38) M16K probably benign Het
Col6a3 A G 1: 90,730,375 (GRCm39) S1644P probably damaging Het
Cspg4 T C 9: 56,797,564 (GRCm39) S1343P probably damaging Het
D430041D05Rik G T 2: 104,060,651 (GRCm39) H1414Q probably damaging Het
Dnah5 C G 15: 28,444,332 (GRCm39) I4043M probably damaging Het
Dnah5 T A 15: 28,444,333 (GRCm39) C4044S possibly damaging Het
Dpep3 C T 8: 106,704,018 (GRCm39) A267T probably benign Het
Dync1h1 A C 12: 110,578,845 (GRCm39) H106P probably benign Het
Dync1h1 A C 12: 110,595,718 (GRCm39) E1466A probably damaging Het
Fggy T C 4: 95,700,337 (GRCm39) probably benign Het
Frmd6 A G 12: 70,910,830 (GRCm39) T5A probably benign Het
Gnb5 G A 9: 75,218,752 (GRCm39) V26I probably benign Het
Hephl1 A T 9: 14,965,297 (GRCm39) probably benign Het
Hmmr C T 11: 40,612,572 (GRCm39) probably benign Het
Hpn A T 7: 30,798,971 (GRCm39) F356Y probably damaging Het
Iqgap3 T C 3: 88,014,810 (GRCm39) probably benign Het
Ism2 A G 12: 87,332,172 (GRCm39) probably benign Het
Kansl1 T A 11: 104,233,802 (GRCm39) M754L probably benign Het
Kcnc4 A T 3: 107,355,470 (GRCm39) I326N probably damaging Het
Lcn6 G A 2: 25,567,184 (GRCm39) V62M probably damaging Het
Lrp1b A T 2: 40,760,353 (GRCm39) C2858S probably damaging Het
Lyn G A 4: 3,745,638 (GRCm39) probably benign Het
Mov10 T A 3: 104,709,812 (GRCm39) H358L probably benign Het
Notch1 A G 2: 26,362,152 (GRCm39) V60A unknown Het
Or2t6 C T 14: 14,175,429 (GRCm38) A218T probably benign Het
Pgap2 C A 7: 101,886,343 (GRCm39) Y176* probably null Het
Pglyrp1 A G 7: 18,624,200 (GRCm39) Q161R possibly damaging Het
Plod3 A G 5: 137,017,049 (GRCm39) N66S probably benign Het
Psmc3 A G 2: 90,884,645 (GRCm39) E18G probably benign Het
Psme3 T G 11: 101,207,872 (GRCm39) M9R probably benign Het
Rapgef4 A G 2: 72,053,417 (GRCm39) N428S possibly damaging Het
Rbp3 A G 14: 33,678,235 (GRCm39) I728V possibly damaging Het
Sall4 A T 2: 168,596,886 (GRCm39) H651Q probably damaging Het
Skint3 T A 4: 112,111,102 (GRCm39) Y76N probably damaging Het
Slc13a4 T C 6: 35,255,263 (GRCm39) T342A probably damaging Het
Slc36a2 T A 11: 55,060,685 (GRCm39) I242F probably benign Het
Tekt2 G A 4: 126,217,553 (GRCm39) Q171* probably null Het
Tet2 T G 3: 133,173,231 (GRCm39) H1677P possibly damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trcg1 C T 9: 57,149,204 (GRCm39) P259S probably benign Het
Ttn A C 2: 76,540,942 (GRCm39) S25688A probably damaging Het
Vmn2r117 T A 17: 23,694,477 (GRCm39) R457* probably null Het
Zbbx C T 3: 75,062,734 (GRCm39) V8I probably damaging Het
Other mutations in Slc25a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Slc25a1 APN 16 17,743,930 (GRCm39) missense probably damaging 1.00
IGL01940:Slc25a1 APN 16 17,744,304 (GRCm39) missense probably benign 0.00
IGL02076:Slc25a1 APN 16 17,745,490 (GRCm39) missense possibly damaging 0.94
IGL02137:Slc25a1 APN 16 17,745,234 (GRCm39) missense probably benign 0.14
IGL03399:Slc25a1 APN 16 17,743,684 (GRCm39) missense probably damaging 0.97
powerpack UTSW 16 17,744,138 (GRCm39) missense probably benign 0.00
R0744:Slc25a1 UTSW 16 17,745,300 (GRCm39) missense probably benign 0.04
R0836:Slc25a1 UTSW 16 17,745,300 (GRCm39) missense probably benign 0.04
R0850:Slc25a1 UTSW 16 17,745,145 (GRCm39) missense probably benign 0.01
R2290:Slc25a1 UTSW 16 17,743,712 (GRCm39) missense possibly damaging 0.92
R2890:Slc25a1 UTSW 16 17,743,963 (GRCm39) missense probably damaging 1.00
R6885:Slc25a1 UTSW 16 17,745,294 (GRCm39) missense probably benign 0.00
R7503:Slc25a1 UTSW 16 17,744,303 (GRCm39) nonsense probably null
R7840:Slc25a1 UTSW 16 17,744,138 (GRCm39) missense probably benign 0.00
R8104:Slc25a1 UTSW 16 17,744,297 (GRCm39) critical splice donor site probably null
R8408:Slc25a1 UTSW 16 17,743,720 (GRCm39) missense probably benign 0.01
R8987:Slc25a1 UTSW 16 17,743,744 (GRCm39) missense probably damaging 1.00
R9022:Slc25a1 UTSW 16 17,745,294 (GRCm39) missense probably benign 0.00
R9145:Slc25a1 UTSW 16 17,745,108 (GRCm39) critical splice donor site probably null
Z1088:Slc25a1 UTSW 16 17,745,070 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- TGAGCAGCTTCACCACTTCATCG -3'
(R):5'- TTATTCCTGGAAGGGCAGGCACAC -3'

Sequencing Primer
(F):5'- AACGGTGCCCTTGTAGAATC -3'
(R):5'- GGGCAGGCACACCCTAC -3'
Posted On 2013-09-30