Incidental Mutation 'R1199:Slc25a44'
ID 101180
Institutional Source Beutler Lab
Gene Symbol Slc25a44
Ensembl Gene ENSMUSG00000050144
Gene Name solute carrier family 25, member 44
Synonyms B430110G05Rik
MMRRC Submission 039269-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R1199 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 88317805-88332446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88328293 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BGF9
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: 108,270,676 (GRCm39) H80L possibly damaging Het
A1bg A T 15: 60,791,484 (GRCm39) probably null Het
Aco2 C T 15: 81,779,394 (GRCm39) S33L probably damaging Het
Agrn T A 4: 156,256,756 (GRCm39) Y1283F probably benign Het
Akap6 T C 12: 52,842,973 (GRCm39) V107A probably damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Btnl9 A T 11: 49,071,574 (GRCm39) V83E probably damaging Het
Camk2a T A 18: 61,085,396 (GRCm39) C131* probably null Het
Ccdc14 C T 16: 34,544,198 (GRCm39) T852M probably damaging Het
Cntn4 T C 6: 106,330,558 (GRCm39) probably benign Het
Cp T G 3: 20,031,316 (GRCm39) S585R probably damaging Het
Cpt1b G A 15: 89,303,213 (GRCm39) A614V probably benign Het
Crygn T C 5: 24,956,146 (GRCm39) Y153C probably damaging Het
Dennd1a A T 2: 37,851,728 (GRCm39) D53E probably damaging Het
Deptor T C 15: 55,115,406 (GRCm39) C357R probably benign Het
Dnajc28 C A 16: 91,415,530 (GRCm39) probably benign Het
Eml6 G A 11: 29,705,044 (GRCm39) A1500V possibly damaging Het
Fgd5 T A 6: 91,963,959 (GRCm39) L64Q possibly damaging Het
Fgfbp1 A G 5: 44,136,939 (GRCm39) Y118H probably damaging Het
Ftcd G A 10: 76,415,653 (GRCm39) R135H probably damaging Het
Gm5174 A T 10: 86,493,189 (GRCm39) noncoding transcript Het
Gpr37l1 A T 1: 135,094,710 (GRCm39) L178Q probably damaging Het
Gtf2ird1 A G 5: 134,439,918 (GRCm39) V104A possibly damaging Het
Irs1 T A 1: 82,267,347 (GRCm39) S290C probably damaging Het
Kel C T 6: 41,665,525 (GRCm39) V532I possibly damaging Het
Kif1c A G 11: 70,599,427 (GRCm39) E442G possibly damaging Het
Klhdc10 T A 6: 30,449,493 (GRCm39) V185D probably damaging Het
Lpp C T 16: 24,500,610 (GRCm39) R141C probably damaging Het
Or52a5 A T 7: 103,427,192 (GRCm39) M120K probably damaging Het
Or5m13 A G 2: 85,748,379 (GRCm39) I37V probably benign Het
Pcnx2 G T 8: 126,614,053 (GRCm39) P466H possibly damaging Het
Pcsk1 A T 13: 75,244,532 (GRCm39) probably benign Het
Pkd2l2 T C 18: 34,571,269 (GRCm39) probably null Het
Pomt1 A G 2: 32,140,504 (GRCm39) N454S probably benign Het
Samhd1 A T 2: 156,951,381 (GRCm39) I452N probably damaging Het
Sez6 A G 11: 77,844,711 (GRCm39) Q178R probably benign Het
Slc46a2 T C 4: 59,914,189 (GRCm39) T245A probably benign Het
Slc4a4 G A 5: 89,363,653 (GRCm39) probably null Het
Spata6 T A 4: 111,656,342 (GRCm39) C329S possibly damaging Het
Srrm2 A T 17: 24,036,725 (GRCm39) probably benign Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Svil T A 18: 5,059,217 (GRCm39) probably benign Het
Tenm3 G T 8: 48,688,617 (GRCm39) S2323R probably damaging Het
Tsc1 G A 2: 28,555,638 (GRCm39) R245Q probably damaging Het
Ttn A G 2: 76,739,100 (GRCm39) V3813A probably benign Het
Ttn G A 2: 76,780,388 (GRCm39) T1121M possibly damaging Het
Ush2a G A 1: 188,491,992 (GRCm39) V3094I probably benign Het
Vcan A G 13: 89,827,913 (GRCm39) probably null Het
Vmn1r189 A T 13: 22,286,828 (GRCm39) L3Q probably damaging Het
Vmn1r60 A C 7: 5,547,971 (GRCm39) V43G probably damaging Het
Vmn2r110 A G 17: 20,803,525 (GRCm39) I350T probably benign Het
Vmn2r86 T A 10: 130,284,443 (GRCm39) probably benign Het
Xrn1 A G 9: 95,863,814 (GRCm39) probably benign Het
Zfp251 C T 15: 76,738,436 (GRCm39) R219Q possibly damaging Het
Other mutations in Slc25a44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Slc25a44 APN 3 88,323,369 (GRCm39) missense probably benign
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
R6005:Slc25a44 UTSW 3 88,320,153 (GRCm39) missense probably damaging 1.00
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'- CCGGCTACGAGTGATTTGACTGTG -3'
(R):5'- AAGCAATGCTGTCCTGACCTTCC -3'

Sequencing Primer
(F):5'- CGAGTGATTTGACTGTGTTACTCTG -3'
(R):5'- GTCCTGACCTTCCTCACATC -3'
Posted On 2014-01-15