Incidental Mutation 'R1199:Slc25a44'
ID101180
Institutional Source Beutler Lab
Gene Symbol Slc25a44
Ensembl Gene ENSMUSG00000050144
Gene Namesolute carrier family 25, member 44
SynonymsB430110G05Rik
MMRRC Submission 039269-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.172) question?
Stock #R1199 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location88410498-88425139 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88420986 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 66 (V66A)
Ref Sequence ENSEMBL: ENSMUSP00000057871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057935] [ENSMUST00000168755] [ENSMUST00000193433] [ENSMUST00000195657]
Predicted Effect probably damaging
Transcript: ENSMUST00000057935
AA Change: V66A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000057871
Gene: ENSMUSG00000050144
AA Change: V66A

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 possibly damaging
Transcript: ENSMUST00000168755
AA Change: V66A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130075
Gene: ENSMUSG00000050144
AA Change: V66A

DomainStartEndE-ValueType
Pfam:Mito_carr 36 124 1.1e-17 PFAM
Pfam:Mito_carr 124 227 5.5e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000193433
AA Change: V47A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141465
Gene: ENSMUSG00000050144
AA Change: V47A

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 possibly damaging
Transcript: ENSMUST00000195657
AA Change: V47A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141780
Gene: ENSMUSG00000050144
AA Change: V47A

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
Meta Mutation Damage Score 0.2417 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.5%
Validation Efficiency 96% (55/57)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A T 9: 108,393,477 H80L possibly damaging Het
A1bg A T 15: 60,919,635 probably null Het
Aco2 C T 15: 81,895,193 S33L probably damaging Het
Agrn T A 4: 156,172,299 Y1283F probably benign Het
Akap6 T C 12: 52,796,190 V107A probably damaging Het
Amph G A 13: 19,142,028 V643M probably damaging Het
Btnl9 A T 11: 49,180,747 V83E probably damaging Het
Camk2a T A 18: 60,952,324 C131* probably null Het
Ccdc14 C T 16: 34,723,828 T852M probably damaging Het
Cntn4 T C 6: 106,353,597 probably benign Het
Cp T G 3: 19,977,152 S585R probably damaging Het
Cpt1b G A 15: 89,419,010 A614V probably benign Het
Crygn T C 5: 24,751,148 Y153C probably damaging Het
Dennd1a A T 2: 37,961,716 D53E probably damaging Het
Deptor T C 15: 55,252,010 C357R probably benign Het
Dnajc28 C A 16: 91,618,642 probably benign Het
Eml6 G A 11: 29,755,044 A1500V possibly damaging Het
Fgd5 T A 6: 91,986,978 L64Q possibly damaging Het
Fgfbp1 A G 5: 43,979,597 Y118H probably damaging Het
Ftcd G A 10: 76,579,819 R135H probably damaging Het
Gm5174 A T 10: 86,657,325 noncoding transcript Het
Gpr37l1 A T 1: 135,166,972 L178Q probably damaging Het
Gtf2ird1 A G 5: 134,411,064 V104A possibly damaging Het
Irs1 T A 1: 82,289,626 S290C probably damaging Het
Kel C T 6: 41,688,591 V532I possibly damaging Het
Kif1c A G 11: 70,708,601 E442G possibly damaging Het
Klhdc10 T A 6: 30,449,494 V185D probably damaging Het
Lpp C T 16: 24,681,860 R141C probably damaging Het
Olfr1025-ps1 A G 2: 85,918,035 I37V probably benign Het
Olfr68 A T 7: 103,777,985 M120K probably damaging Het
Pcnx2 G T 8: 125,887,314 P466H possibly damaging Het
Pcsk1 A T 13: 75,096,413 probably benign Het
Pkd2l2 T C 18: 34,438,216 probably null Het
Pomt1 A G 2: 32,250,492 N454S probably benign Het
Samhd1 A T 2: 157,109,461 I452N probably damaging Het
Sez6 A G 11: 77,953,885 Q178R probably benign Het
Slc46a2 T C 4: 59,914,189 T245A probably benign Het
Slc4a4 G A 5: 89,215,794 probably null Het
Spata6 T A 4: 111,799,145 C329S possibly damaging Het
Srrm2 A T 17: 23,817,751 probably benign Het
Stard9 C A 2: 120,673,636 S221R probably damaging Het
Svil T A 18: 5,059,217 probably benign Het
Tenm3 G T 8: 48,235,582 S2323R probably damaging Het
Tsc1 G A 2: 28,665,626 R245Q probably damaging Het
Ttn A G 2: 76,908,756 V3813A probably benign Het
Ttn G A 2: 76,950,044 T1121M possibly damaging Het
Ush2a G A 1: 188,759,795 V3094I probably benign Het
Vcan A G 13: 89,679,794 probably null Het
Vmn1r189 A T 13: 22,102,658 L3Q probably damaging Het
Vmn1r60 A C 7: 5,544,972 V43G probably damaging Het
Vmn2r110 A G 17: 20,583,263 I350T probably benign Het
Vmn2r86 T A 10: 130,448,574 probably benign Het
Xrn1 A G 9: 95,981,761 probably benign Het
Zfp251 C T 15: 76,854,236 R219Q possibly damaging Het
Other mutations in Slc25a44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Slc25a44 APN 3 88416062 missense probably benign
R1283:Slc25a44 UTSW 3 88420578 missense probably damaging 1.00
R1590:Slc25a44 UTSW 3 88416007 missense possibly damaging 0.94
R6005:Slc25a44 UTSW 3 88412846 missense probably damaging 1.00
R6261:Slc25a44 UTSW 3 88420911 missense probably damaging 1.00
R7458:Slc25a44 UTSW 3 88416061 missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- CCGGCTACGAGTGATTTGACTGTG -3'
(R):5'- AAGCAATGCTGTCCTGACCTTCC -3'

Sequencing Primer
(F):5'- CGAGTGATTTGACTGTGTTACTCTG -3'
(R):5'- GTCCTGACCTTCCTCACATC -3'
Posted On2014-01-15