Incidental Mutation 'R6005:Slc25a44'
ID 479398
Institutional Source Beutler Lab
Gene Symbol Slc25a44
Ensembl Gene ENSMUSG00000050144
Gene Name solute carrier family 25, member 44
Synonyms B430110G05Rik
MMRRC Submission 044425-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R6005 (G1)
Quality Score 121.008
Status Validated
Chromosome 3
Chromosomal Location 88317805-88332446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88320153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 269 (E269K)
Ref Sequence ENSEMBL: ENSMUSP00000141780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056370] [ENSMUST00000057935] [ENSMUST00000168755] [ENSMUST00000192909] [ENSMUST00000195657] [ENSMUST00000193433] [ENSMUST00000193338]
AlphaFold Q8BGF9
Predicted Effect probably benign
Transcript: ENSMUST00000056370
SMART Domains Protein: ENSMUSP00000062420
Gene: ENSMUSG00000028066

DomainStartEndE-ValueType
Pfam:Nnf1 68 168 2.4e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000057935
AA Change: E288K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057871
Gene: ENSMUSG00000050144
AA Change: E288K

DomainStartEndE-ValueType
Pfam:Mito_carr 38 124 7.1e-17 PFAM
Pfam:Mito_carr 124 232 1.3e-18 PFAM
Pfam:Mito_carr 239 325 4.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168755
SMART Domains Protein: ENSMUSP00000130075
Gene: ENSMUSG00000050144

DomainStartEndE-ValueType
Pfam:Mito_carr 36 124 1.1e-17 PFAM
Pfam:Mito_carr 124 227 5.5e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191622
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192365
Predicted Effect probably benign
Transcript: ENSMUST00000192909
Predicted Effect probably damaging
Transcript: ENSMUST00000195657
AA Change: E269K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141780
Gene: ENSMUSG00000050144
AA Change: E269K

DomainStartEndE-ValueType
Pfam:Mito_carr 17 105 2e-17 PFAM
Pfam:Mito_carr 105 214 3e-18 PFAM
Pfam:Mito_carr 220 306 1.2e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000193433
AA Change: E269K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141465
Gene: ENSMUSG00000050144
AA Change: E269K

DomainStartEndE-ValueType
Pfam:Mito_carr 17 105 2e-17 PFAM
Pfam:Mito_carr 105 214 3e-18 PFAM
Pfam:Mito_carr 220 306 1.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193338
SMART Domains Protein: ENSMUSP00000141696
Gene: ENSMUSG00000028066

DomainStartEndE-ValueType
Pfam:Nnf1 5 100 4.4e-13 PFAM
Meta Mutation Damage Score 0.7231 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 90.9%
Validation Efficiency 99% (79/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
7530416G11Rik A T 15: 85,378,310 (GRCm39) I111N unknown Het
Adgb C T 10: 10,271,096 (GRCm39) R849H probably damaging Het
Ahnak T C 19: 8,992,525 (GRCm39) V4603A possibly damaging Het
Ank1 A G 8: 23,622,218 (GRCm39) D1589G probably damaging Het
Ankrd2 A G 19: 42,028,554 (GRCm39) D70G probably damaging Het
Arid2 T C 15: 96,268,853 (GRCm39) S989P probably benign Het
Bbs1 A T 19: 4,953,823 (GRCm39) Y113* probably null Het
Bfsp2 T G 9: 103,325,749 (GRCm39) K298T probably damaging Het
Bpi G A 2: 158,104,400 (GRCm39) V168I possibly damaging Het
Cacna2d1 T C 5: 16,566,819 (GRCm39) S921P probably damaging Het
Clec4d A C 6: 123,244,118 (GRCm39) T76P probably damaging Het
Coq8b C T 7: 26,956,750 (GRCm39) Q468* probably null Het
Dennd6b T C 15: 89,072,371 (GRCm39) E248G possibly damaging Het
Ednra A G 8: 78,401,556 (GRCm39) S245P possibly damaging Het
Epb41l4a C T 18: 33,961,196 (GRCm39) C446Y probably benign Het
Fam221a A G 6: 49,344,756 (GRCm39) probably benign Het
Fam229a T C 4: 129,385,296 (GRCm39) S76P probably benign Het
Fryl C T 5: 73,240,638 (GRCm39) D1321N probably damaging Het
Gata3os T C 2: 9,887,638 (GRCm39) probably benign Het
Gli2 C T 1: 118,769,794 (GRCm39) R586H probably damaging Het
Gm94 C T 18: 43,925,862 (GRCm39) A16T possibly damaging Het
Gorasp2 T C 2: 70,521,095 (GRCm39) V355A probably benign Het
Grid1 C A 14: 35,045,369 (GRCm39) T404N probably damaging Het
Gtf2i C A 5: 134,284,812 (GRCm39) E475* probably null Het
Gucy1a2 T C 9: 3,865,518 (GRCm39) probably null Het
Hs3st5 T A 10: 36,708,924 (GRCm39) I153N probably damaging Het
Il11ra1 T C 4: 41,763,887 (GRCm39) probably null Het
Ireb2 G A 9: 54,816,089 (GRCm39) G887S probably damaging Het
Kdsr T C 1: 106,662,311 (GRCm39) E248G probably benign Het
Lemd2 C G 17: 27,409,759 (GRCm39) R464P probably damaging Het
Lrrfip1 T C 1: 91,042,333 (GRCm39) V246A probably damaging Het
Macf1 T A 4: 123,368,068 (GRCm39) D2231V possibly damaging Het
Map2k5 C T 9: 63,188,301 (GRCm39) D283N probably damaging Het
Mfsd5 A G 15: 102,189,927 (GRCm39) D433G possibly damaging Het
Mir700 C A 4: 135,139,618 (GRCm39) probably null Het
Mroh9 A T 1: 162,903,246 (GRCm39) F52L probably damaging Het
Mtrfr G T 5: 124,478,837 (GRCm39) E153* probably null Het
Mycbp2 A C 14: 103,394,159 (GRCm39) S2691A probably benign Het
Myorg T A 4: 41,498,895 (GRCm39) H245L probably benign Het
Nktr T A 9: 121,577,460 (GRCm39) probably benign Het
Obsl1 C A 1: 75,468,859 (GRCm39) probably null Het
Or10ag60 A T 2: 87,438,424 (GRCm39) I231F probably damaging Het
Or52r1b A T 7: 102,690,853 (GRCm39) I51F probably damaging Het
Or5aq7 A G 2: 86,938,407 (GRCm39) V108A probably benign Het
Or7g35 C T 9: 19,496,181 (GRCm39) T116I probably benign Het
Or8c11 T C 9: 38,289,605 (GRCm39) S137P probably damaging Het
Pcdhb22 T A 18: 37,652,789 (GRCm39) I162N possibly damaging Het
Pde1c A T 6: 56,456,187 (GRCm39) probably null Het
Pds5b A G 5: 150,693,241 (GRCm39) probably null Het
Pkd1l1 A C 11: 8,807,113 (GRCm39) W1568G probably damaging Het
Polr3c A T 3: 96,626,784 (GRCm39) M258K possibly damaging Het
Pramel23 T A 4: 143,425,002 (GRCm39) H147L probably benign Het
Prss12 A T 3: 123,276,417 (GRCm39) I349F probably benign Het
Ptpn21 A G 12: 98,644,811 (GRCm39) *1177Q probably null Het
Rgs22 T A 15: 36,010,713 (GRCm39) K1125M probably benign Het
Rnf182 A G 13: 43,821,511 (GRCm39) K21E probably damaging Het
Rpl6 G A 5: 121,343,577 (GRCm39) probably benign Het
Samsn1 C T 16: 75,670,402 (GRCm39) V234I probably benign Het
Scrib A G 15: 75,929,600 (GRCm39) I1089T probably damaging Het
Sec31a T C 5: 100,511,737 (GRCm39) T1092A probably damaging Het
Sh3bp2 G T 5: 34,719,809 (GRCm39) R606L possibly damaging Het
Sipa1 A G 19: 5,706,229 (GRCm39) V367A probably damaging Het
Slc44a4 T A 17: 35,142,430 (GRCm39) M353K possibly damaging Het
Sorcs2 A G 5: 36,176,728 (GRCm39) S1142P probably damaging Het
Sptbn4 A G 7: 27,118,024 (GRCm39) F352L probably damaging Het
Synj1 A T 16: 90,766,174 (GRCm39) N541K probably damaging Het
Tas2r113 G A 6: 132,870,659 (GRCm39) R229K probably benign Het
Tcaf3 A T 6: 42,566,905 (GRCm39) I728K probably benign Het
Tcea1 A G 1: 4,960,996 (GRCm39) E167G probably benign Het
Timeless G A 10: 128,080,069 (GRCm39) R406H probably damaging Het
Traf6 C T 2: 101,527,029 (GRCm39) R260* probably null Het
Traj31 C T 14: 54,425,388 (GRCm39) probably benign Het
Ttn A T 2: 76,599,907 (GRCm39) V19089D probably damaging Het
Unc80 C T 1: 66,666,416 (GRCm39) S1868L possibly damaging Het
Wdr38 A T 2: 38,891,333 (GRCm39) I287F possibly damaging Het
Wnt2 G A 6: 18,030,322 (GRCm39) probably benign Het
Wnt5b G A 6: 119,410,615 (GRCm39) P288L probably benign Het
Xkr5 G T 8: 18,984,521 (GRCm39) N174K probably benign Het
Zbtb6 C T 2: 37,318,977 (GRCm39) R317Q probably damaging Het
Zcchc7 AGGGG AGGG 4: 44,931,218 (GRCm39) probably null Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Slc25a44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Slc25a44 APN 3 88,323,369 (GRCm39) missense probably benign
R1199:Slc25a44 UTSW 3 88,328,293 (GRCm39) missense probably damaging 0.99
R1283:Slc25a44 UTSW 3 88,327,885 (GRCm39) missense probably damaging 1.00
R1590:Slc25a44 UTSW 3 88,323,314 (GRCm39) missense possibly damaging 0.94
R6261:Slc25a44 UTSW 3 88,328,218 (GRCm39) missense probably damaging 1.00
R7458:Slc25a44 UTSW 3 88,323,368 (GRCm39) missense probably benign 0.14
R9327:Slc25a44 UTSW 3 88,328,025 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- TGTGAAACCACAGCCTCTC -3'
(R):5'- TAGGCAGGGTTAAGTCCACC -3'

Sequencing Primer
(F):5'- AGCCTCTCCATCCACCG -3'
(R):5'- TCTGTCACCAGAGCTAGGAG -3'
Posted On 2017-06-26