Incidental Mutation 'IGL03380:Tmem207'
ID420638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem207
Ensembl Gene ENSMUSG00000091972
Gene Nametransmembrane protein 207
SynonymsLOC224058, 100043057
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL03380
Quality Score
Status
Chromosome16
Chromosomal Location26503656-26526769 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 26526657 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 20 (C20S)
Ref Sequence ENSEMBL: ENSMUSP00000127563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165687]
Predicted Effect probably damaging
Transcript: ENSMUST00000165687
AA Change: C20S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127563
Gene: ENSMUSG00000091972
AA Change: C20S

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,298,574 N2774D probably benign Het
Aldh1a2 T G 9: 71,255,117 Y149* probably null Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Arhgap23 A G 11: 97,452,518 D542G probably damaging Het
Atp8a1 T C 5: 67,732,186 E582G probably benign Het
C4b A T 17: 34,740,286 V438D probably benign Het
Caps2 A G 10: 112,200,696 E345G probably benign Het
Cdk19 C T 10: 40,476,912 P308L probably benign Het
Drc3 A G 11: 60,377,905 E307G probably benign Het
Dst G A 1: 34,257,800 A1041T probably damaging Het
Elp2 T C 18: 24,622,480 V428A probably benign Het
Eml5 G T 12: 98,874,647 probably benign Het
Fam120b G A 17: 15,403,134 probably benign Het
Fpr-rs6 G A 17: 20,182,983 L39F possibly damaging Het
Fsd1 T C 17: 55,995,456 I300T probably benign Het
Hsd17b6 T C 10: 127,994,338 probably null Het
Hspa1a T C 17: 34,970,277 K550R probably benign Het
Krba1 A G 6: 48,403,453 H37R possibly damaging Het
Lama2 T C 10: 27,050,265 D2117G probably damaging Het
Map4k2 T C 19: 6,344,590 F332S possibly damaging Het
Mindy1 T C 3: 95,291,018 probably benign Het
Nhsl1 T G 10: 18,523,879 Y284* probably null Het
Olfr1463 T A 19: 13,235,001 F250L probably benign Het
Pkhd1 T A 1: 20,200,670 T3220S probably damaging Het
Pramel7 A T 2: 87,491,372 D106E probably benign Het
Psme3 T C 11: 101,320,026 probably null Het
Rsph1 T C 17: 31,277,236 E7G unknown Het
Slc13a2 T C 11: 78,399,082 T469A probably benign Het
Slc30a9 C T 5: 67,315,711 T46I probably benign Het
Slc37a4 T G 9: 44,400,023 S204A probably benign Het
Slc8b1 T C 5: 120,519,735 F88L probably damaging Het
Smpd3 C T 8: 106,259,659 V504I probably benign Het
Tbx4 A G 11: 85,914,639 N418S probably benign Het
Tmem132c A G 5: 127,536,442 T470A probably benign Het
Usp43 G A 11: 67,875,316 A761V possibly damaging Het
Vmn1r191 C T 13: 22,178,885 S233N probably damaging Het
Vmn2r58 T A 7: 41,864,450 E256D probably benign Het
Zc3hav1 T C 6: 38,336,558 Y184C probably damaging Het
Other mutations in Tmem207
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01101:Tmem207 APN 16 26517877 nonsense probably null
IGL02140:Tmem207 APN 16 26516740 missense probably benign 0.01
IGL02249:Tmem207 APN 16 26517867 missense possibly damaging 0.86
IGL02394:Tmem207 APN 16 26516836 splice site probably benign
R0058:Tmem207 UTSW 16 26524829 splice site probably benign
R0058:Tmem207 UTSW 16 26524829 splice site probably benign
R1839:Tmem207 UTSW 16 26524821 missense possibly damaging 0.80
R4943:Tmem207 UTSW 16 26517853 nonsense probably null
R7348:Tmem207 UTSW 16 26516827 missense possibly damaging 0.68
Posted On2016-08-02