Incidental Mutation 'R7387:Slc25a51'
ID 573157
Institutional Source Beutler Lab
Gene Symbol Slc25a51
Ensembl Gene ENSMUSG00000045973
Gene Name solute carrier family 25, member 51
Synonyms Mcart1, 9130208E07Rik, D130005A03Rik
MMRRC Submission 045469-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.255) question?
Stock # R7387 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 45395923-45408766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45399841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 116 (F116L)
Ref Sequence ENSEMBL: ENSMUSP00000103425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107796] [ENSMUST00000116341] [ENSMUST00000132815] [ENSMUST00000151516] [ENSMUST00000153904]
AlphaFold Q5HZI9
Predicted Effect possibly damaging
Transcript: ENSMUST00000107796
AA Change: F116L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103425
Gene: ENSMUSG00000045973
AA Change: F116L

DomainStartEndE-ValueType
Pfam:Mito_carr 44 130 4.7e-11 PFAM
Pfam:Mito_carr 132 223 3.5e-11 PFAM
Pfam:Mito_carr 225 315 5.4e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000116341
AA Change: F99L

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112044
Gene: ENSMUSG00000045973
AA Change: F99L

DomainStartEndE-ValueType
Pfam:Mito_carr 27 113 7.4e-12 PFAM
Pfam:Mito_carr 115 206 5.5e-12 PFAM
Pfam:Mito_carr 208 298 8.5e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000132815
AA Change: F99L

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134132
Gene: ENSMUSG00000045973
AA Change: F99L

DomainStartEndE-ValueType
Pfam:Mito_carr 27 113 7.4e-12 PFAM
Pfam:Mito_carr 115 206 5.5e-12 PFAM
Pfam:Mito_carr 208 298 8.5e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000151516
AA Change: F116L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134108
Gene: ENSMUSG00000045973
AA Change: F116L

DomainStartEndE-ValueType
Pfam:Mito_carr 44 130 1.7e-11 PFAM
Pfam:Mito_carr 132 196 1.5e-7 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000122620
Gene: ENSMUSG00000045973
AA Change: F116L

DomainStartEndE-ValueType
Pfam:Mito_carr 44 130 2e-11 PFAM
Pfam:Mito_carr 132 206 3e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik A G 4: 109,362,774 (GRCm39) Y182H probably damaging Het
Abca6 A G 11: 110,093,246 (GRCm39) V1009A probably benign Het
Abcg2 A T 6: 58,666,609 (GRCm39) I573F possibly damaging Het
Adck1 A G 12: 88,427,822 (GRCm39) T480A probably benign Het
Adcy5 T C 16: 35,092,460 (GRCm39) I607T probably damaging Het
Add2 A G 6: 86,062,997 (GRCm39) K52E probably damaging Het
Arid4a T A 12: 71,134,270 (GRCm39) S1191T probably damaging Het
Atg2a G T 19: 6,305,198 (GRCm39) C1207F possibly damaging Het
Atg2b T C 12: 105,589,034 (GRCm39) D1875G probably damaging Het
B3gntl1 A G 11: 121,520,741 (GRCm39) L224P possibly damaging Het
BC035947 A G 1: 78,475,098 (GRCm39) V478A possibly damaging Het
Cachd1 T C 4: 100,634,375 (GRCm39) V17A unknown Het
Cad T C 5: 31,219,284 (GRCm39) Y669H probably damaging Het
Ccdc110 A T 8: 46,395,233 (GRCm39) M375L probably benign Het
Cdc6 C T 11: 98,799,042 (GRCm39) probably benign Het
Cdhr4 T A 9: 107,874,111 (GRCm39) Y72* probably null Het
Cenpe T G 3: 134,952,798 (GRCm39) M1496R probably benign Het
Clec4a1 T G 6: 122,899,016 (GRCm39) C28W possibly damaging Het
Cma2 A G 14: 56,210,505 (GRCm39) N120S probably benign Het
Cped1 A T 6: 22,059,933 (GRCm39) I200L probably benign Het
Cpsf1 A T 15: 76,486,766 (GRCm39) S257T possibly damaging Het
Dnah6 G A 6: 73,189,595 (GRCm39) Q18* probably null Het
Dpp10 T C 1: 123,268,869 (GRCm39) E720G probably benign Het
Dus2 G A 8: 106,772,619 (GRCm39) R243Q probably damaging Het
Dync2h1 T C 9: 7,157,932 (GRCm39) N769S possibly damaging Het
Ece1 T A 4: 137,666,095 (GRCm39) I313N possibly damaging Het
Ern1 A T 11: 106,312,778 (GRCm39) V201E probably damaging Het
Exoc3l A G 8: 106,021,605 (GRCm39) L141P probably damaging Het
Fam168b G A 1: 34,858,789 (GRCm39) T131M probably damaging Het
Fez1 T C 9: 36,779,108 (GRCm39) F262L probably damaging Het
H2-DMa T C 17: 34,357,101 (GRCm39) Y200H probably damaging Het
H2-Eb1 T A 17: 34,533,207 (GRCm39) V143D probably damaging Het
Ighv1-39 G A 12: 114,878,488 (GRCm39) P28S probably benign Het
Inka1 C T 9: 107,861,626 (GRCm39) R230H probably damaging Het
Iqgap1 C T 7: 80,370,738 (GRCm39) V1544I probably benign Het
Itga10 A T 3: 96,560,094 (GRCm39) Q536L probably benign Het
Itih2 C T 2: 10,135,319 (GRCm39) E24K possibly damaging Het
Itsn2 A T 12: 4,689,781 (GRCm39) N618I probably damaging Het
Kcnd2 T A 6: 21,216,777 (GRCm39) S160R probably benign Het
Kif11 T A 19: 37,398,204 (GRCm39) F677I probably damaging Het
Ldlrad2 C T 4: 137,301,828 (GRCm39) C18Y probably damaging Het
Lrp4 T C 2: 91,306,959 (GRCm39) V360A probably benign Het
Lrrtm2 T C 18: 35,346,025 (GRCm39) T426A probably damaging Het
Mcidas T C 13: 113,130,622 (GRCm39) F40L probably benign Het
Med27 T A 2: 29,303,419 (GRCm39) L123Q possibly damaging Het
Mettl2 T C 11: 105,023,364 (GRCm39) V249A probably benign Het
Mllt6 C A 11: 97,565,426 (GRCm39) A592D probably benign Het
Mrps5 C T 2: 127,442,804 (GRCm39) T291I probably damaging Het
Muc16 T A 9: 18,553,016 (GRCm39) T4426S probably benign Het
Myh1 A T 11: 67,099,715 (GRCm39) M542L probably benign Het
Nlrp12 G T 7: 3,289,831 (GRCm39) A227D probably damaging Het
Nlrp14 T C 7: 106,782,314 (GRCm39) Y504H probably damaging Het
Nr1i2 T C 16: 38,086,442 (GRCm39) S8G probably benign Het
Ntrk2 A G 13: 59,133,793 (GRCm39) K524R probably damaging Het
Nup210 C T 6: 90,998,378 (GRCm39) probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or4c100 T A 2: 88,356,744 (GRCm39) Y272* probably null Het
Or52e4 T A 7: 104,706,297 (GRCm39) Y281* probably null Het
Or5h27 A T 16: 59,006,699 (GRCm39) I49N probably damaging Het
Patl1 A G 19: 11,911,094 (GRCm39) I525M probably benign Het
Pcnx3 A G 19: 5,723,364 (GRCm39) L1277P probably benign Het
Pelp1 G A 11: 70,287,425 (GRCm39) T461I probably damaging Het
Phf20 T C 2: 156,136,160 (GRCm39) C660R probably damaging Het
Pkd1l1 T A 11: 8,851,203 (GRCm39) Y1193F Het
Pknox2 G T 9: 36,868,364 (GRCm39) probably benign Het
Pml T C 9: 58,137,177 (GRCm39) T541A probably benign Het
Prss35 C T 9: 86,637,974 (GRCm39) T248I probably damaging Het
Rccd1 T A 7: 79,970,350 (GRCm39) N89I probably benign Het
Rcor3 T C 1: 191,821,824 (GRCm39) probably benign Het
Rreb1 A G 13: 38,131,040 (GRCm39) E16G unknown Het
Scgb2b12 T A 7: 32,026,060 (GRCm39) H44L probably benign Het
Sec23ip C T 7: 128,346,727 (GRCm39) probably benign Het
Sgsm1 A C 5: 113,411,566 (GRCm39) F720C probably damaging Het
Spats2l T C 1: 57,941,293 (GRCm39) V253A probably damaging Het
Spopl A T 2: 23,427,521 (GRCm39) F204I probably benign Het
Sqle G A 15: 59,202,603 (GRCm39) R519Q probably benign Het
Stil T G 4: 114,881,233 (GRCm39) H592Q probably benign Het
Strip1 T A 3: 107,533,046 (GRCm39) S201C probably damaging Het
Tcp11l1 C A 2: 104,530,275 (GRCm39) A70S possibly damaging Het
Tmem163 T C 1: 127,447,180 (GRCm39) probably null Het
Tmem184c A T 8: 78,324,559 (GRCm39) Y310* probably null Het
Tmem30c T C 16: 57,090,386 (GRCm39) N274D probably benign Het
Trim30c T A 7: 104,039,397 (GRCm39) I133F probably damaging Het
Vars1 C T 17: 35,223,768 (GRCm39) Q228* probably null Het
Zdbf2 G A 1: 63,343,198 (GRCm39) V526I possibly damaging Het
Zfp819 T G 7: 43,262,065 (GRCm39) probably null Het
Other mutations in Slc25a51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02417:Slc25a51 APN 4 45,400,074 (GRCm39) missense probably benign 0.03
R4284:Slc25a51 UTSW 4 45,399,768 (GRCm39) missense probably benign 0.43
R4285:Slc25a51 UTSW 4 45,399,768 (GRCm39) missense probably benign 0.43
R4287:Slc25a51 UTSW 4 45,399,768 (GRCm39) missense probably benign 0.43
R4505:Slc25a51 UTSW 4 45,399,768 (GRCm39) missense probably benign 0.43
R4506:Slc25a51 UTSW 4 45,399,768 (GRCm39) missense probably benign 0.43
R6819:Slc25a51 UTSW 4 45,399,365 (GRCm39) missense possibly damaging 0.95
R7432:Slc25a51 UTSW 4 45,399,765 (GRCm39) missense possibly damaging 0.95
R8094:Slc25a51 UTSW 4 45,399,783 (GRCm39) missense probably benign 0.00
R9056:Slc25a51 UTSW 4 45,399,494 (GRCm39) missense probably damaging 1.00
R9512:Slc25a51 UTSW 4 45,399,360 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCTCGGTAATACTCTGCAATCC -3'
(R):5'- ACAACGTGGCGATCACTTAC -3'

Sequencing Primer
(F):5'- GGTAATACTCTGCAATCCCATGG -3'
(R):5'- GATCACTTACCCGGTTCAGAAG -3'
Posted On 2019-09-13