Incidental Mutation 'IGL01357:Tmem243'
ID75583
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem243
Ensembl Gene ENSMUSG00000079659
Gene Nametransmembrane protein 243, mitochondrial
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.141) question?
Stock #IGL01357
Quality Score
Status
Chromosome5
Chromosomal Location9100668-9160986 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 9101348 bp
ZygosityHeterozygous
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]
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: 124,639,333 V224F probably damaging Het
Abca4 T A 3: 122,103,583 M637K probably damaging Het
Abca8a A G 11: 110,031,572 V1395A probably benign Het
Adam20 A C 8: 40,796,560 D569A probably benign Het
Axl A G 7: 25,774,169 L344P probably benign Het
B3gat1 T C 9: 26,756,987 L291P probably damaging Het
Cdc25c A T 18: 34,734,857 probably null Het
Crat A T 2: 30,407,724 Y263N probably damaging Het
Crb2 A G 2: 37,795,511 probably benign Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dnah7a A T 1: 53,662,381 V205D probably benign Het
Emsy A T 7: 98,590,870 Y1011* probably null Het
Fbln5 C T 12: 101,750,887 S414N probably damaging Het
Fev T C 1: 74,882,524 E89G possibly damaging Het
Fgg A G 3: 83,014,228 E406G possibly damaging Het
Glra1 A T 11: 55,514,889 M425K possibly damaging Het
Gm8214 C T 1: 183,681,932 noncoding transcript Het
Kdm3b A G 18: 34,793,014 E69G probably damaging Het
Kntc1 T A 5: 123,757,814 V89E probably damaging Het
L3mbtl3 T A 10: 26,330,185 N361I unknown Het
Macrod2 A G 2: 142,384,330 N457S probably damaging Het
Mal C A 2: 127,640,314 M56I probably damaging Het
Mfsd5 C T 15: 102,281,447 T418M probably benign Het
Mmaa C A 8: 79,267,971 R402L probably benign Het
Myo15 T C 11: 60,502,289 probably benign Het
Nme1 A G 11: 93,959,491 S122P possibly damaging Het
Nxt1 A G 2: 148,675,396 E19G probably damaging Het
Nynrin A T 14: 55,870,417 T994S probably benign Het
Orc2 T G 1: 58,497,392 E56D probably benign Het
Orc2 T C 1: 58,497,393 E56G probably benign Het
Pid1 G A 1: 84,038,305 T113I probably damaging Het
Plcg2 G A 8: 117,614,161 probably benign Het
Rad50 A G 11: 53,707,021 V12A probably damaging Het
Serpinb9c C T 13: 33,151,879 V197I probably benign Het
Sfxn2 A T 19: 46,585,773 N134I probably damaging Het
Spen T C 4: 141,517,113 R204G unknown Het
Strip2 A G 6: 29,939,167 probably benign Het
Tas2r135 A T 6: 42,406,144 I206L probably benign Het
Tmprss11c A G 5: 86,231,807 V401A probably damaging Het
Trim50 T A 5: 135,363,954 I241N probably damaging Het
Ttn A C 2: 76,951,520 S1015A possibly damaging Het
Wee1 T C 7: 110,142,035 S622P probably benign Het
Other mutations in Tmem243
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0374:Tmem243 UTSW 5 9101361 missense possibly damaging 0.93
R0785:Tmem243 UTSW 5 9118488 missense probably damaging 1.00
R1768:Tmem243 UTSW 5 9118548 missense probably damaging 1.00
R1796:Tmem243 UTSW 5 9116489 missense probably benign 0.37
R6974:Tmem243 UTSW 5 9101348 missense probably damaging 0.99
Posted On2013-10-07