Incidental Mutation 'IGL01357:Tmem243'
ID 75583
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem243
Ensembl Gene ENSMUSG00000079659
Gene Name transmembrane protein 243, mitochondrial
Synonyms 4930420K17Rik, E030031F02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # IGL01357
Quality Score
Status
Chromosome 5
Chromosomal Location 9150737-9168983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9151348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 11 (T11A)
Ref Sequence ENSEMBL: ENSMUSP00000111022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115365] [ENSMUST00000196029]
AlphaFold B2RVB9
Predicted Effect probably damaging
Transcript: ENSMUST00000115365
AA Change: T11A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111022
Gene: ENSMUSG00000079659
AA Change: T11A

DomainStartEndE-ValueType
Pfam:DUF2678 1 118 2.4e-73 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000196029
AA Change: T11A
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik C A 8: 125,366,072 (GRCm39) V224F probably damaging Het
Abca4 T A 3: 121,897,232 (GRCm39) M637K probably damaging Het
Abca8a A G 11: 109,922,398 (GRCm39) V1395A probably benign Het
Adam20 A C 8: 41,249,597 (GRCm39) D569A probably benign Het
Axl A G 7: 25,473,594 (GRCm39) L344P probably benign Het
B3gat1 T C 9: 26,668,283 (GRCm39) L291P probably damaging Het
Cdc25c A T 18: 34,867,910 (GRCm39) probably null Het
Crat A T 2: 30,297,736 (GRCm39) Y263N probably damaging Het
Crb2 A G 2: 37,685,523 (GRCm39) probably benign Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Dnah7a A T 1: 53,701,540 (GRCm39) V205D probably benign Het
Emsy A T 7: 98,240,077 (GRCm39) Y1011* probably null Het
Fbln5 C T 12: 101,717,146 (GRCm39) S414N probably damaging Het
Fev T C 1: 74,921,683 (GRCm39) E89G possibly damaging Het
Fgg A G 3: 82,921,535 (GRCm39) E406G possibly damaging Het
Glra1 A T 11: 55,405,715 (GRCm39) M425K possibly damaging Het
Gm8214 C T 1: 183,414,129 (GRCm39) noncoding transcript Het
Kdm3b A G 18: 34,926,067 (GRCm39) E69G probably damaging Het
Kntc1 T A 5: 123,895,877 (GRCm39) V89E probably damaging Het
L3mbtl3 T A 10: 26,206,083 (GRCm39) N361I unknown Het
Macrod2 A G 2: 142,226,250 (GRCm39) N457S probably damaging Het
Mal C A 2: 127,482,234 (GRCm39) M56I probably damaging Het
Mfsd5 C T 15: 102,189,882 (GRCm39) T418M probably benign Het
Mmaa C A 8: 79,994,600 (GRCm39) R402L probably benign Het
Myo15a T C 11: 60,393,115 (GRCm39) probably benign Het
Nme1 A G 11: 93,850,317 (GRCm39) S122P possibly damaging Het
Nxt1 A G 2: 148,517,316 (GRCm39) E19G probably damaging Het
Nynrin A T 14: 56,107,874 (GRCm39) T994S probably benign Het
Orc2 T G 1: 58,536,551 (GRCm39) E56D probably benign Het
Orc2 T C 1: 58,536,552 (GRCm39) E56G probably benign Het
Pid1 G A 1: 84,016,026 (GRCm39) T113I probably damaging Het
Plcg2 G A 8: 118,340,900 (GRCm39) probably benign Het
Rad50 A G 11: 53,597,848 (GRCm39) V12A probably damaging Het
Serpinb9c C T 13: 33,335,862 (GRCm39) V197I probably benign Het
Sfxn2 A T 19: 46,574,212 (GRCm39) N134I probably damaging Het
Spen T C 4: 141,244,424 (GRCm39) R204G unknown Het
Strip2 A G 6: 29,939,166 (GRCm39) probably benign Het
Tas2r135 A T 6: 42,383,078 (GRCm39) I206L probably benign Het
Tmprss11c A G 5: 86,379,666 (GRCm39) V401A probably damaging Het
Trim50 T A 5: 135,392,808 (GRCm39) I241N probably damaging Het
Ttn A C 2: 76,781,864 (GRCm39) S1015A possibly damaging Het
Wee1 T C 7: 109,741,242 (GRCm39) S622P probably benign Het
Other mutations in Tmem243
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0374:Tmem243 UTSW 5 9,151,361 (GRCm39) missense possibly damaging 0.93
R0785:Tmem243 UTSW 5 9,168,488 (GRCm39) missense probably damaging 1.00
R1768:Tmem243 UTSW 5 9,168,548 (GRCm39) missense probably damaging 1.00
R1796:Tmem243 UTSW 5 9,166,489 (GRCm39) missense probably benign 0.37
R6974:Tmem243 UTSW 5 9,151,348 (GRCm39) missense probably damaging 0.99
Posted On 2013-10-07