Incidental Mutation 'R6459:Slc25a16'
ID 517523
Institutional Source Beutler Lab
Gene Symbol Slc25a16
Ensembl Gene ENSMUSG00000071253
Gene Name solute carrier family 25 (mitochondrial carrier, Graves disease autoantigen), member 16
Synonyms ML7, 3110021G18Rik, HGT.1
MMRRC Submission 044594-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R6459 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 62756454-62782278 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 62773256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 164 (Q164*)
Ref Sequence ENSEMBL: ENSMUSP00000114510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044977] [ENSMUST00000144459]
AlphaFold Q8C0K5
Predicted Effect probably null
Transcript: ENSMUST00000044977
AA Change: Q161*
SMART Domains Protein: ENSMUSP00000043370
Gene: ENSMUSG00000071253
AA Change: Q161*

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Pfam:Mito_carr 32 125 1.7e-25 PFAM
Pfam:Mito_carr 127 220 2.3e-26 PFAM
Pfam:Mito_carr 237 332 8.6e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117855
Predicted Effect probably null
Transcript: ENSMUST00000144459
AA Change: Q164*
SMART Domains Protein: ENSMUSP00000114510
Gene: ENSMUSG00000071253
AA Change: Q164*

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Pfam:Mito_carr 32 125 9.4e-28 PFAM
Pfam:Mito_carr 126 223 4.6e-25 PFAM
Pfam:Mito_carr 240 322 2.3e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152350
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 98% (52/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves' disease. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr C A 11: 76,315,815 (GRCm39) R583L probably damaging Het
Acss1 A G 2: 150,509,840 (GRCm39) I93T probably damaging Het
Ank3 C T 10: 69,827,577 (GRCm39) probably benign Het
Aoah A G 13: 21,184,112 (GRCm39) Y392C probably damaging Het
Atl3 A T 19: 7,498,163 (GRCm39) E186D probably benign Het
Atp4a A G 7: 30,411,887 (GRCm39) K41E probably benign Het
Atp9a G A 2: 168,509,933 (GRCm39) P500L probably damaging Het
Ccdc88b A T 19: 6,832,246 (GRCm39) V363D possibly damaging Het
Cftr T C 6: 18,258,235 (GRCm39) V532A probably damaging Het
Cldn13 T C 5: 134,943,769 (GRCm39) T139A possibly damaging Het
Cnksr3 T C 10: 7,076,820 (GRCm39) Y124C probably benign Het
Cyb5r2 T C 7: 107,352,462 (GRCm39) K161E possibly damaging Het
Epop T C 11: 97,519,333 (GRCm39) S259G possibly damaging Het
Fhl2 G A 1: 43,162,813 (GRCm39) T234I possibly damaging Het
Fnip2 T C 3: 79,388,941 (GRCm39) T567A possibly damaging Het
Frmd4b A G 6: 97,464,601 (GRCm39) C39R probably damaging Het
Grhl3 T C 4: 135,284,744 (GRCm39) N116S possibly damaging Het
Igkv14-111 A T 6: 68,233,725 (GRCm39) R75S probably benign Het
Il16 A T 7: 83,371,529 (GRCm39) D92E probably damaging Het
Il16 C A 7: 83,371,536 (GRCm39) G90V probably damaging Het
Ipo11 T C 13: 107,002,277 (GRCm39) probably null Het
Kng2 A G 16: 22,830,865 (GRCm39) I148T probably damaging Het
Lrrc41 T C 4: 115,945,977 (GRCm39) S231P possibly damaging Het
Maneal C T 4: 124,750,635 (GRCm39) V374I possibly damaging Het
Mgat4c T A 10: 102,220,988 (GRCm39) L90Q probably damaging Het
Mrps28 A G 3: 8,965,040 (GRCm39) probably null Het
Ncapd3 A G 9: 26,963,051 (GRCm39) D452G probably benign Het
Nefh T C 11: 4,889,551 (GRCm39) T1023A unknown Het
Nipa1 A G 7: 55,629,354 (GRCm39) V253A probably benign Het
Or5ac17 C T 16: 59,036,383 (GRCm39) V198M probably benign Het
Or5b97 G T 19: 12,878,369 (GRCm39) F258L possibly damaging Het
Or5m11 G T 2: 85,781,862 (GRCm39) G152C probably damaging Het
Or8d23 A G 9: 38,841,961 (GRCm39) S165G probably benign Het
Or8k41 T A 2: 86,313,573 (GRCm39) H171L probably benign Het
Pak1 A G 7: 97,557,088 (GRCm39) D495G probably benign Het
Pcm1 G A 8: 41,714,073 (GRCm39) R213H probably damaging Het
Prg4 T C 1: 150,330,052 (GRCm39) probably benign Het
Proser1 C T 3: 53,385,750 (GRCm39) T544M possibly damaging Het
Rftn1 T C 17: 50,354,334 (GRCm39) M343V probably benign Het
Ryr1 T C 7: 28,715,079 (GRCm39) I4656V probably benign Het
Scg2 T A 1: 79,414,007 (GRCm39) N239Y probably damaging Het
Sec16a C A 2: 26,313,512 (GRCm39) M1949I probably benign Het
Sipa1l2 A G 8: 126,171,223 (GRCm39) probably null Het
Slc10a2 A C 8: 5,148,581 (GRCm39) probably null Het
Specc1l T C 10: 75,082,001 (GRCm39) Y483H probably damaging Het
Ston1 T C 17: 88,943,896 (GRCm39) V434A probably benign Het
Tarbp2 A G 15: 102,426,914 (GRCm39) probably benign Het
Trappc8 C T 18: 20,969,925 (GRCm39) V1022M probably benign Het
Tsen54 T C 11: 115,712,506 (GRCm39) V269A probably damaging Het
Vps13a A T 19: 16,641,382 (GRCm39) M78K possibly damaging Het
Vwa5b2 A G 16: 20,413,429 (GRCm39) T215A probably damaging Het
Zc3h7a A G 16: 10,971,025 (GRCm39) Y335H probably damaging Het
Zfp994 T A 17: 22,419,527 (GRCm39) Q474L possibly damaging Het
Other mutations in Slc25a16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Slc25a16 APN 10 62,780,212 (GRCm39) splice site probably null
IGL01963:Slc25a16 APN 10 62,766,220 (GRCm39) splice site probably null
IGL02130:Slc25a16 APN 10 62,780,137 (GRCm39) missense probably benign 0.02
R1503:Slc25a16 UTSW 10 62,764,155 (GRCm39) missense probably damaging 1.00
R1533:Slc25a16 UTSW 10 62,756,643 (GRCm39) missense probably damaging 0.97
R2067:Slc25a16 UTSW 10 62,768,530 (GRCm39) missense probably benign 0.25
R4388:Slc25a16 UTSW 10 62,764,105 (GRCm39) missense probably benign 0.18
R6225:Slc25a16 UTSW 10 62,764,102 (GRCm39) missense probably damaging 1.00
R6457:Slc25a16 UTSW 10 62,776,938 (GRCm39) missense probably benign 0.20
R7009:Slc25a16 UTSW 10 62,773,233 (GRCm39) missense possibly damaging 0.95
R7814:Slc25a16 UTSW 10 62,773,199 (GRCm39) missense probably benign 0.00
R8792:Slc25a16 UTSW 10 62,764,119 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCTCCTTAGGTACTGCTATTGGATG -3'
(R):5'- AAACACCAGCTTCTCAGGGC -3'

Sequencing Primer
(F):5'- AATTTCACCTTTGTTCTTAGTAGGTC -3'
(R):5'- AGGCAAGTGTTCTACCACTG -3'
Posted On 2018-05-21