Incidental Mutation 'IGL02249:Tmem207'
ID 286313
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem207
Ensembl Gene ENSMUSG00000091972
Gene Name transmembrane protein 207
Synonyms 100043057, LOC224058
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL02249
Quality Score
Status
Chromosome 16
Chromosomal Location 26322543-26345521 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26336617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 46 (Y46N)
Ref Sequence ENSEMBL: ENSMUSP00000127563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165687]
AlphaFold P86045
Predicted Effect possibly damaging
Transcript: ENSMUST00000165687
AA Change: Y46N

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127563
Gene: ENSMUSG00000091972
AA Change: Y46N

DomainStartEndE-ValueType
Pfam:TMEM52 31 92 4.2e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231658
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T A 1: 53,224,431 (GRCm39) K23* probably null Het
Abca1 A T 4: 53,068,739 (GRCm39) L1333* probably null Het
Adcy6 C A 15: 98,497,795 (GRCm39) M452I probably damaging Het
Adsl G A 15: 80,844,676 (GRCm39) R173H probably benign Het
Ank3 A G 10: 69,718,200 (GRCm39) T484A probably damaging Het
Apol10a A G 15: 77,372,709 (GRCm39) D115G probably damaging Het
Bard1 A G 1: 71,092,828 (GRCm39) S529P probably damaging Het
C2 A G 17: 35,083,484 (GRCm39) probably benign Het
Cftr T A 6: 18,277,870 (GRCm39) I956N possibly damaging Het
Cwc15 A G 9: 14,414,977 (GRCm39) T110A probably benign Het
Dsg4 A T 18: 20,594,361 (GRCm39) I497F possibly damaging Het
Gadd45b A G 10: 80,766,967 (GRCm39) D69G possibly damaging Het
Glb1l3 A T 9: 26,742,564 (GRCm39) S307R possibly damaging Het
Greb1l G A 18: 10,532,961 (GRCm39) G843R probably damaging Het
H2-M11 A T 17: 36,858,829 (GRCm39) Y123F probably benign Het
Hal G A 10: 93,333,400 (GRCm39) A323T probably damaging Het
Il4ra T C 7: 125,166,396 (GRCm39) F47L probably benign Het
Klra10 T A 6: 130,256,367 (GRCm39) N96Y probably benign Het
Maco1 T C 4: 134,555,623 (GRCm39) I283M possibly damaging Het
Mki67 T A 7: 135,302,251 (GRCm39) M928L possibly damaging Het
Myh15 T A 16: 48,930,847 (GRCm39) V607D probably damaging Het
Ndufaf2 A G 13: 108,217,925 (GRCm39) W74R probably damaging Het
Noc4l C A 5: 110,801,081 (GRCm39) probably benign Het
Or51b6b T A 7: 103,309,573 (GRCm39) I295F probably damaging Het
Papss1 T A 3: 131,307,772 (GRCm39) W274R probably damaging Het
Pax3 C T 1: 78,171,962 (GRCm39) V83I probably damaging Het
Prmt5 C T 14: 54,747,322 (GRCm39) R485H probably damaging Het
Ptprq A G 10: 107,418,220 (GRCm39) Y1719H probably damaging Het
Ranbp2 A T 10: 58,315,900 (GRCm39) I2207F possibly damaging Het
Rock2 T A 12: 17,021,042 (GRCm39) probably benign Het
Sema3c G A 5: 17,867,961 (GRCm39) R124H probably damaging Het
Serpina1e G A 12: 103,917,393 (GRCm39) T92M probably benign Het
Sgip1 T C 4: 102,768,667 (GRCm39) L83P probably benign Het
Tm9sf2 C T 14: 122,361,162 (GRCm39) S68L probably damaging Het
Tmem178 A G 17: 81,297,235 (GRCm39) T206A probably damaging Het
Tyk2 A G 9: 21,031,703 (GRCm39) L429P probably damaging Het
Other mutations in Tmem207
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01101:Tmem207 APN 16 26,336,627 (GRCm39) nonsense probably null
IGL02140:Tmem207 APN 16 26,335,490 (GRCm39) missense probably benign 0.01
IGL02394:Tmem207 APN 16 26,335,586 (GRCm39) splice site probably benign
IGL03380:Tmem207 APN 16 26,345,407 (GRCm39) missense probably damaging 1.00
R0058:Tmem207 UTSW 16 26,343,579 (GRCm39) splice site probably benign
R0058:Tmem207 UTSW 16 26,343,579 (GRCm39) splice site probably benign
R1839:Tmem207 UTSW 16 26,343,571 (GRCm39) missense possibly damaging 0.80
R4943:Tmem207 UTSW 16 26,336,603 (GRCm39) nonsense probably null
R7348:Tmem207 UTSW 16 26,335,577 (GRCm39) missense possibly damaging 0.68
R7947:Tmem207 UTSW 16 26,335,495 (GRCm39) missense possibly damaging 0.82
R9358:Tmem207 UTSW 16 26,345,434 (GRCm39) missense probably benign 0.07
R9464:Tmem207 UTSW 16 26,345,413 (GRCm39) missense
R9564:Tmem207 UTSW 16 26,335,499 (GRCm39) nonsense probably null
Posted On 2015-04-16