Incidental Mutation 'R6292:Slc25a28'
ID 508526
Institutional Source Beutler Lab
Gene Symbol Slc25a28
Ensembl Gene ENSMUSG00000040414
Gene Name solute carrier family 25, member 28
Synonyms Mrs3/4, Mfrn2, 2210403D18Rik
MMRRC Submission 044461-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.498) question?
Stock # R6292 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 43652240-43663320 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43653031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 210 (D210G)
Ref Sequence ENSEMBL: ENSMUSP00000036913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046038]
AlphaFold Q8R0Z5
Predicted Effect probably benign
Transcript: ENSMUST00000046038
AA Change: D210G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000036913
Gene: ENSMUSG00000040414
AA Change: D210G

DomainStartEndE-ValueType
low complexity region 4 27 N/A INTRINSIC
low complexity region 36 48 N/A INTRINSIC
Pfam:Mito_carr 69 162 6.2e-22 PFAM
Pfam:Mito_carr 167 257 1e-19 PFAM
Pfam:Mito_carr 257 357 2.5e-22 PFAM
Meta Mutation Damage Score 0.1568 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.5%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T A 5: 114,338,312 (GRCm39) V709E probably damaging Het
Ankrd33b C T 15: 31,325,231 (GRCm39) probably null Het
Apaf1 T C 10: 90,827,425 (GRCm39) T1202A possibly damaging Het
Apip G T 2: 102,922,812 (GRCm39) C210F probably benign Het
Chd9 A T 8: 91,659,550 (GRCm39) H170L probably benign Het
Clec16a T C 16: 10,378,015 (GRCm39) probably null Het
Ep300 T A 15: 81,500,935 (GRCm39) probably benign Het
Etl4 C T 2: 20,748,384 (GRCm39) H39Y probably damaging Het
Gdap1l1 A T 2: 163,293,427 (GRCm39) I218F probably damaging Het
Gm5141 A T 13: 62,922,252 (GRCm39) C306S probably damaging Het
Gm9961 C T 16: 11,748,336 (GRCm39) noncoding transcript Het
Gpr27 C T 6: 99,670,619 (GRCm39) S327L possibly damaging Het
Hectd3 A C 4: 116,856,005 (GRCm39) T435P probably damaging Het
Hs3st1 T A 5: 39,772,133 (GRCm39) Q170L possibly damaging Het
Hykk T C 9: 54,828,110 (GRCm39) probably null Het
Lilra5 T C 7: 4,241,338 (GRCm39) S92P possibly damaging Het
Lrig1 A T 6: 94,593,426 (GRCm39) N418K probably damaging Het
Miga1 A G 3: 152,023,356 (GRCm39) F232L probably benign Het
Mkrn2 T A 6: 115,590,295 (GRCm39) M217K probably damaging Het
Myh7b A T 2: 155,474,316 (GRCm39) Q1677L probably damaging Het
N4bp1 T C 8: 87,579,867 (GRCm39) E645G probably damaging Het
Nckap5 T C 1: 125,842,752 (GRCm39) K1752E probably damaging Het
Nek1 A G 8: 61,507,770 (GRCm39) probably null Het
Ntng1 T C 3: 110,051,202 (GRCm39) probably benign Het
Nup133 A G 8: 124,644,176 (GRCm39) V730A probably benign Het
Or2t44 T A 11: 58,677,063 (GRCm39) M1K probably null Het
Or51v14 T A 7: 103,261,386 (GRCm39) H58L probably damaging Het
Paqr6 C T 3: 88,275,205 (GRCm39) P213S probably damaging Het
Pign A T 1: 105,512,802 (GRCm39) V627D possibly damaging Het
Rasal1 T A 5: 120,797,685 (GRCm39) V139E probably damaging Het
Scgb1b24 G T 7: 33,443,577 (GRCm39) A79S possibly damaging Het
Slc38a3 A T 9: 107,532,353 (GRCm39) I393N possibly damaging Het
Slc41a2 T C 10: 83,090,790 (GRCm39) N465D probably damaging Het
Slc5a5 G A 8: 71,343,822 (GRCm39) T160I probably damaging Het
Smarca2 C T 19: 26,608,292 (GRCm39) A117V probably damaging Het
Sorcs2 C T 5: 36,219,931 (GRCm39) R371H probably damaging Het
Taf4 A G 2: 179,565,780 (GRCm39) S872P probably damaging Het
Tdrd3 G T 14: 87,743,690 (GRCm39) C540F probably benign Het
Thumpd1 A T 7: 119,319,897 (GRCm39) L23Q probably benign Het
Top1 A T 2: 160,540,061 (GRCm39) Y213F probably benign Het
Txndc5 T C 13: 38,712,160 (GRCm39) probably null Het
Unc79 C A 12: 103,108,991 (GRCm39) A2005D possibly damaging Het
Upb1 T C 10: 75,274,005 (GRCm39) L344P probably damaging Het
Vmn1r72 T A 7: 11,403,579 (GRCm39) S290C probably benign Het
Vmn2r103 A G 17: 20,013,866 (GRCm39) I219M possibly damaging Het
Wapl A G 14: 34,451,152 (GRCm39) T729A probably damaging Het
Washc5 C T 15: 59,227,783 (GRCm39) R393H probably damaging Het
Other mutations in Slc25a28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01942:Slc25a28 APN 19 43,652,947 (GRCm39) missense probably damaging 1.00
IGL02572:Slc25a28 APN 19 43,652,885 (GRCm39) missense probably damaging 1.00
IGL02678:Slc25a28 APN 19 43,655,586 (GRCm39) splice site probably benign
R0732:Slc25a28 UTSW 19 43,655,392 (GRCm39) missense probably benign 0.00
R1307:Slc25a28 UTSW 19 43,655,470 (GRCm39) missense probably benign 0.28
R3950:Slc25a28 UTSW 19 43,652,708 (GRCm39) missense probably benign 0.01
R6057:Slc25a28 UTSW 19 43,655,364 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- TACAAACGTCCAGTGGGGTTG -3'
(R):5'- AGGAAACTCACCATCCTTTGTTTTC -3'

Sequencing Primer
(F):5'- CCAGTGGGGTTGTGGCG -3'
(R):5'- CTTCCCACCACATTGACGG -3'
Posted On 2018-03-15