Incidental Mutation 'R1426:Slc25a48'
ID250615
Institutional Source Beutler Lab
Gene Symbol Slc25a48
Ensembl Gene ENSMUSG00000021509
Gene Namesolute carrier family 25, member 48
Synonyms
MMRRC Submission 039482-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.125) question?
Stock #R1426 (G1)
Quality Score59
Status Validated
Chromosome13
Chromosomal Location56438355-56474239 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 56448991 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021971]
Predicted Effect probably benign
Transcript: ENSMUST00000021971
SMART Domains Protein: ENSMUSP00000021971
Gene: ENSMUSG00000021509

DomainStartEndE-ValueType
Pfam:Mito_carr 3 91 5.3e-20 PFAM
Pfam:Mito_carr 101 204 3.3e-17 PFAM
Pfam:Mito_carr 208 301 1.3e-23 PFAM
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.3%
  • 20x: 86.1%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,324,435 V214E probably damaging Het
Adh1 A G 3: 138,286,795 D224G probably damaging Het
Arhgap28 C A 17: 67,857,464 Q554H probably damaging Het
Atp8a2 T C 14: 59,860,270 K770E probably benign Het
Brat1 G A 5: 140,718,013 V674I probably benign Het
Brd2 ATCTTCTTC ATCTTC 17: 34,114,007 probably benign Het
Ccdc162 T C 10: 41,553,182 D438G possibly damaging Het
Cyp4x1 T A 4: 115,112,791 probably benign Het
Dip2a T C 10: 76,279,820 probably benign Het
Eif2s1 A G 12: 78,881,168 D206G probably benign Het
Elovl7 T A 13: 108,282,494 I220N possibly damaging Het
Gsto1 A G 19: 47,857,942 E76G probably damaging Het
Hspa14 A T 2: 3,508,821 W12R probably damaging Het
L3mbtl2 T A 15: 81,676,317 C260S possibly damaging Het
Lama3 G T 18: 12,481,098 probably null Het
Lrrc34 T A 3: 30,643,579 probably benign Het
Lrrc45 A T 11: 120,720,013 Q525L probably benign Het
Lss T C 10: 76,536,303 I164T probably damaging Het
Myh11 T A 16: 14,205,931 K1527* probably null Het
Naip2 T C 13: 100,161,854 E558G probably benign Het
Naip2 C T 13: 100,161,860 G556D probably benign Het
Ncoa1 T A 12: 4,270,737 probably benign Het
Olfr262 G T 19: 12,241,182 Q160K possibly damaging Het
Olfr768 A T 10: 129,093,690 C95S probably damaging Het
Pafah1b3 T C 7: 25,297,135 E41G possibly damaging Het
Pnmal1 C T 7: 16,960,984 P255S possibly damaging Het
Prkar2b A T 12: 31,962,988 probably benign Het
Rbck1 A T 2: 152,327,241 probably benign Het
Rcor2 A G 19: 7,271,030 S137G possibly damaging Het
Slc7a4 A G 16: 17,573,944 probably null Het
Tert T C 13: 73,642,353 probably benign Het
Traf7 A T 17: 24,511,681 I344N probably damaging Het
Vmn1r194 T A 13: 22,245,066 F284L probably damaging Het
Xpc A G 6: 91,493,238 M699T probably damaging Het
Zbtb5 T C 4: 44,993,968 H472R possibly damaging Het
Zfp786 A G 6: 47,825,079 V88A probably benign Het
Zkscan7 T C 9: 122,895,163 I399T probably benign Het
Zyg11b G A 4: 108,250,812 R466C probably damaging Het
Other mutations in Slc25a48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01690:Slc25a48 APN 13 56464945 splice site probably benign
IGL01746:Slc25a48 APN 13 56470353 missense probably damaging 0.99
IGL03209:Slc25a48 APN 13 56470459 missense probably benign 0.00
R0068:Slc25a48 UTSW 13 56451211 missense probably damaging 1.00
R0068:Slc25a48 UTSW 13 56451211 missense probably damaging 1.00
R0550:Slc25a48 UTSW 13 56448998 missense probably benign 0.03
R1397:Slc25a48 UTSW 13 56465051 missense probably damaging 0.98
R1621:Slc25a48 UTSW 13 56470470 makesense probably null
R1937:Slc25a48 UTSW 13 56448998 missense probably damaging 0.99
R4710:Slc25a48 UTSW 13 56463566 missense probably damaging 0.97
R4735:Slc25a48 UTSW 13 56449074 splice site probably null
R6107:Slc25a48 UTSW 13 56465078 missense probably damaging 1.00
R7960:Slc25a48 UTSW 13 56463598 missense probably damaging 0.99
Z1176:Slc25a48 UTSW 13 56451174 missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- CCAAGGCTGTGTTCTGGTGAGAAAG -3'
(R):5'- CCATCTGTTGCCGTGATGTAGGAG -3'

Sequencing Primer
(F):5'- tgggggtggggaatgag -3'
(R):5'- TAGGAGTGTGGCCTGGTCC -3'
Posted On2014-11-26