Incidental Mutation 'R0747:Slc25a1'
ID70208
Institutional Source Beutler Lab
Gene Symbol Slc25a1
Ensembl Gene ENSMUSG00000003528
Gene Namesolute carrier family 25 (mitochondrial carrier, citrate transporter), member 1
SynonymsDgsj, 2610100G11Rik, 1300019P08Rik, Slc20a3
MMRRC Submission 038928-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0747 (G1)
Quality Score225
Status Validated
Chromosome16
Chromosomal Location17925223-17928219 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 17926220 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 239 (T239K)
Ref Sequence ENSEMBL: ENSMUSP00000003622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003622]
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 0.0392 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
3830406C13Rik T A 14: 12,287,287 M16K probably benign Het
Adam19 A T 11: 46,118,495 probably null Het
Anks4b C T 7: 120,182,163 A139V probably damaging Het
Arf1 G A 11: 59,212,635 R149C probably benign Het
Axl A T 7: 25,764,059 C598S possibly damaging Het
B3gnt2 T C 11: 22,836,316 I291V possibly damaging Het
Ccdc158 T A 5: 92,633,297 H883L probably benign Het
Col6a3 A G 1: 90,802,653 S1644P probably damaging Het
Cspg4 T C 9: 56,890,280 S1343P probably damaging Het
D430041D05Rik G T 2: 104,230,306 H1414Q probably damaging Het
Dnah5 C G 15: 28,444,186 I4043M probably damaging Het
Dnah5 T A 15: 28,444,187 C4044S possibly damaging Het
Dpep3 C T 8: 105,977,386 A267T probably benign Het
Dync1h1 A C 12: 110,612,411 H106P probably benign Het
Dync1h1 A C 12: 110,629,284 E1466A probably damaging Het
Fggy T C 4: 95,812,100 probably benign Het
Frmd6 A G 12: 70,864,056 T5A probably benign Het
Gnb5 G A 9: 75,311,470 V26I probably benign Het
Hephl1 A T 9: 15,054,001 probably benign Het
Hmmr C T 11: 40,721,745 probably benign Het
Hpn A T 7: 31,099,546 F356Y probably damaging Het
Iqgap3 T C 3: 88,107,503 probably benign Het
Ism2 A G 12: 87,285,398 probably benign Het
Kansl1 T A 11: 104,342,976 M754L probably benign Het
Kcnc4 A T 3: 107,448,154 I326N probably damaging Het
Lcn6 G A 2: 25,677,172 V62M probably damaging Het
Lrp1b A T 2: 40,870,341 C2858S probably damaging Het
Lyn G A 4: 3,745,638 probably benign Het
Mov10 T A 3: 104,802,496 H358L probably benign Het
Notch1 A G 2: 26,472,140 V60A unknown Het
Olfr720 C T 14: 14,175,429 A218T probably benign Het
Pgap2 C A 7: 102,237,136 Y176* probably null Het
Pglyrp1 A G 7: 18,890,275 Q161R possibly damaging Het
Plod3 A G 5: 136,988,195 N66S probably benign Het
Psmc3 A G 2: 91,054,300 E18G probably benign Het
Psme3 T G 11: 101,317,046 M9R probably benign Het
Rapgef4 A G 2: 72,223,073 N428S possibly damaging Het
Rbp3 A G 14: 33,956,278 I728V possibly damaging Het
Sall4 A T 2: 168,754,966 H651Q probably damaging Het
Skint3 T A 4: 112,253,905 Y76N probably damaging Het
Slc13a4 T C 6: 35,278,328 T342A probably damaging Het
Slc36a2 T A 11: 55,169,859 I242F probably benign Het
Tekt2 G A 4: 126,323,760 Q171* probably null Het
Tet2 T G 3: 133,467,470 H1677P possibly damaging Het
Trappc9 G A 15: 73,025,967 R377W probably damaging Het
Trcg1 C T 9: 57,241,921 P259S probably benign Het
Ttn A C 2: 76,710,598 S25688A probably damaging Het
Vmn2r117 T A 17: 23,475,503 R457* probably null Het
Zbbx C T 3: 75,155,427 V8I probably damaging Het
Other mutations in Slc25a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Slc25a1 APN 16 17926066 missense probably damaging 1.00
IGL01940:Slc25a1 APN 16 17926440 missense probably benign 0.00
IGL02076:Slc25a1 APN 16 17927626 missense possibly damaging 0.94
IGL02137:Slc25a1 APN 16 17927370 missense probably benign 0.14
IGL03399:Slc25a1 APN 16 17925820 missense probably damaging 0.97
R0744:Slc25a1 UTSW 16 17927436 missense probably benign 0.04
R0836:Slc25a1 UTSW 16 17927436 missense probably benign 0.04
R0850:Slc25a1 UTSW 16 17927281 missense probably benign 0.01
R2290:Slc25a1 UTSW 16 17925848 missense possibly damaging 0.92
R2890:Slc25a1 UTSW 16 17926099 missense probably damaging 1.00
R6885:Slc25a1 UTSW 16 17927430 missense probably benign 0.00
Z1088:Slc25a1 UTSW 16 17927206 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 On2013-09-30