Incidental Mutation 'IGL01609:Tmem45a'
ID91896
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem45a
Ensembl Gene ENSMUSG00000022754
Gene Nametransmembrane protein 45a
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL01609
Quality Score
Status
Chromosome16
Chromosomal Location56805161-56886166 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56811565 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 230 (I230T)
Ref Sequence ENSEMBL: ENSMUSP00000023435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023435]
Predicted Effect probably benign
Transcript: ENSMUST00000023435
AA Change: I230T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000023435
Gene: ENSMUSG00000022754
AA Change: I230T

DomainStartEndE-ValueType
transmembrane domain 10 27 N/A INTRINSIC
transmembrane domain 51 73 N/A INTRINSIC
transmembrane domain 88 110 N/A INTRINSIC
Pfam:DUF716 119 239 8.9e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148452
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A G 18: 61,822,021 V299A probably benign Het
Actr5 T C 2: 158,636,802 probably null Het
Arhgap18 A G 10: 26,880,748 D448G possibly damaging Het
Bcl9 T C 3: 97,208,975 E801G probably benign Het
Bin1 A G 18: 32,419,925 N232S probably damaging Het
Brf1 A C 12: 112,963,591 Y459D probably damaging Het
Clca4a T A 3: 144,953,780 I772F probably damaging Het
Cyp2a4 G A 7: 26,308,663 probably null Het
Dync1i2 T A 2: 71,247,008 probably benign Het
Frem3 T A 8: 80,612,704 M542K probably benign Het
Gm9992 A G 17: 7,369,739 V130A probably damaging Het
Gpbp1 T C 13: 111,439,202 T256A possibly damaging Het
Ighm T C 12: 113,421,234 probably benign Het
Igkv3-12 A G 6: 70,518,248 probably benign Het
Kdm4d A G 9: 14,464,418 V48A probably damaging Het
Lama2 T C 10: 27,344,421 S483G probably benign Het
Lbp A C 2: 158,328,412 Q464P probably damaging Het
Lipo4 T C 19: 33,499,254 T365A probably benign Het
Mark3 T C 12: 111,627,522 F274S probably damaging Het
Mcm3 A T 1: 20,814,680 probably benign Het
Mrpl9 T A 3: 94,444,694 F137I probably damaging Het
Msh4 G T 3: 153,897,397 A93E probably damaging Het
Mthfd1l T A 10: 4,018,567 D407E probably benign Het
Olfr101 C T 17: 37,299,738 R228H probably benign Het
Olfr1357 A C 10: 78,612,126 S172A probably benign Het
Olfr1406 G A 1: 173,184,276 H53Y probably benign Het
Pcsk2 G T 2: 143,801,158 V452L possibly damaging Het
Pcsk6 G A 7: 66,035,273 probably null Het
Pmfbp1 A G 8: 109,527,716 E461G probably benign Het
Pole2 A G 12: 69,207,857 probably null Het
Postn T C 3: 54,369,228 M176T probably damaging Het
Prss12 T A 3: 123,482,834 C371S probably damaging Het
Rnf11 T A 4: 109,456,976 Q72L possibly damaging Het
Rrad A G 8: 104,629,824 probably null Het
Slitrk3 T A 3: 73,050,237 I401F probably damaging Het
Themis A G 10: 28,668,753 probably benign Het
Tnni1 C A 1: 135,805,496 probably null Het
Trpa1 A T 1: 14,912,383 I83N probably damaging Het
Uggt1 T C 1: 36,182,474 Y54C probably damaging Het
Umodl1 C T 17: 30,998,826 T1202I possibly damaging Het
Usp37 G A 1: 74,475,040 A324V probably benign Het
Zfp808 T A 13: 62,173,209 C751S probably damaging Het
Other mutations in Tmem45a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03189:Tmem45a APN 16 56811573 nonsense probably null
R1481:Tmem45a UTSW 16 56811602 missense possibly damaging 0.62
R1698:Tmem45a UTSW 16 56823570 missense probably benign 0.10
R1748:Tmem45a UTSW 16 56822338 missense possibly damaging 0.94
R1759:Tmem45a UTSW 16 56822402 missense probably benign
R1921:Tmem45a UTSW 16 56822302 missense probably benign 0.11
R2277:Tmem45a UTSW 16 56823519 missense probably damaging 1.00
R2279:Tmem45a UTSW 16 56823519 missense probably damaging 1.00
R3899:Tmem45a UTSW 16 56806738 missense probably damaging 1.00
R4941:Tmem45a UTSW 16 56822289 missense possibly damaging 0.62
R5489:Tmem45a UTSW 16 56825711 unclassified probably null
R6914:Tmem45a UTSW 16 56825782 missense probably benign 0.00
R6942:Tmem45a UTSW 16 56825782 missense probably benign 0.00
R7064:Tmem45a UTSW 16 56822404 missense probably benign 0.00
R7197:Tmem45a UTSW 16 56811663 missense probably damaging 0.99
R7746:Tmem45a UTSW 16 56825737 missense probably damaging 0.98
Posted On2013-12-09