Incidental Mutation 'IGL01481:Tmem45a2'
ID88603
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem45a2
Ensembl Gene ENSMUSG00000046748
Gene Nametransmembrane protein 45A2
Synonyms2310005G13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL01481
Quality Score
Status
Chromosome16
Chromosomal Location57036967-57071372 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 57047012 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 109 (I109F)
Ref Sequence ENSEMBL: ENSMUSP00000154589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067173] [ENSMUST00000227043]
Predicted Effect probably benign
Transcript: ENSMUST00000067173
AA Change: I109F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000070137
Gene: ENSMUSG00000046748
AA Change: I109F

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
transmembrane domain 108 126 N/A INTRINSIC
Pfam:DUF716 133 255 9.1e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226147
Predicted Effect probably benign
Transcript: ENSMUST00000227043
AA Change: I109F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,933,098 S523C probably damaging Het
Apaf1 A T 10: 91,031,588 D798E possibly damaging Het
Arhgef7 G T 8: 11,815,256 V410L probably benign Het
Capn7 T C 14: 31,355,339 L338P probably damaging Het
Cldn17 A G 16: 88,506,583 V86A probably benign Het
Clec4a2 A G 6: 123,142,500 N237S probably benign Het
Cmtr1 T G 17: 29,698,657 I654S probably benign Het
Cryzl2 G A 1: 157,470,739 probably null Het
Ctif A G 18: 75,611,784 probably benign Het
Dcaf7 T A 11: 106,054,746 I307N probably damaging Het
Drosha A T 15: 12,842,439 T399S probably benign Het
Eef2k A T 7: 120,895,218 Y35F probably benign Het
Emc1 T C 4: 139,362,099 S193P probably benign Het
Fpr2 T C 17: 17,892,763 I7T probably benign Het
Fras1 C A 5: 96,657,241 N1247K probably damaging Het
Gipr T C 7: 19,159,506 probably benign Het
Heatr5a C T 12: 51,955,425 G243S probably damaging Het
Hivep2 G A 10: 14,149,237 R2265Q probably benign Het
Iars T C 13: 49,728,698 S1073P probably benign Het
Inpp4b T C 8: 81,997,380 S514P probably damaging Het
Inpp5b T A 4: 124,800,699 probably null Het
Itga2 C T 13: 114,859,632 V708I possibly damaging Het
Itih5 A C 2: 10,190,289 Q164P probably damaging Het
Map3k19 T A 1: 127,822,478 E1045D probably damaging Het
Mbd5 T C 2: 49,278,939 V1374A possibly damaging Het
Mrps34 T C 17: 24,897,336 probably benign Het
Nadsyn1 T C 7: 143,812,584 D191G probably damaging Het
Nlrc3 T G 16: 3,963,905 N563H probably damaging Het
Nlrp4c T C 7: 6,100,784 C906R possibly damaging Het
Olfr1252 A G 2: 89,721,526 L195P probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr654 C A 7: 104,587,860 P36T probably damaging Het
Olfr981 T C 9: 40,023,278 M295T possibly damaging Het
Pdgfd C A 9: 6,337,271 T195K probably null Het
Ptprz1 C A 6: 22,999,980 Q690K probably benign Het
Scfd1 T A 12: 51,384,120 M23K probably damaging Het
Scn10a G A 9: 119,609,194 R1869C probably damaging Het
Scp2 T C 4: 108,074,442 probably null Het
Sec61a1 A G 6: 88,506,847 V354A probably benign Het
Sgpp1 T C 12: 75,722,657 I246V probably benign Het
Slco2a1 G T 9: 103,070,251 D250Y probably damaging Het
Slit2 A G 5: 48,302,931 N1435D probably benign Het
Sspo A G 6: 48,448,515 I23M probably benign Het
Steap4 A T 5: 7,976,858 T274S probably damaging Het
Tbc1d22b T C 17: 29,568,598 L107P possibly damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Tox T A 4: 6,842,396 T45S probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Wdr7 G A 18: 63,739,179 D395N probably damaging Het
Other mutations in Tmem45a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Tmem45a2 APN 16 57045255 missense probably damaging 1.00
IGL01121:Tmem45a2 APN 16 57040790 missense possibly damaging 0.81
R0230:Tmem45a2 UTSW 16 57046996 missense possibly damaging 0.79
R0633:Tmem45a2 UTSW 16 57049414 missense probably benign 0.03
R0850:Tmem45a2 UTSW 16 57045369 missense probably benign 0.00
R1164:Tmem45a2 UTSW 16 57049426 missense probably damaging 0.99
R1874:Tmem45a2 UTSW 16 57047084 missense possibly damaging 0.86
R3938:Tmem45a2 UTSW 16 57039035 missense probably benign
R4084:Tmem45a2 UTSW 16 57071024 missense probably benign
R5309:Tmem45a2 UTSW 16 57039007 missense possibly damaging 0.70
R5312:Tmem45a2 UTSW 16 57039007 missense possibly damaging 0.70
R6866:Tmem45a2 UTSW 16 57047023 missense probably damaging 0.97
Posted On2013-11-18