Incidental Mutation 'IGL01023:Tmem269'
ID53555
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem269
Ensembl Gene ENSMUSG00000028642
Gene Nametransmembrane protein 269
Synonyms4930538K18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.156) question?
Stock #IGL01023
Quality Score
Status
Chromosome4
Chromosomal Location119205055-119218217 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 119209314 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 182 (M182I)
Ref Sequence ENSEMBL: ENSMUSP00000148286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030394] [ENSMUST00000212054]
Predicted Effect probably benign
Transcript: ENSMUST00000030394
AA Change: M130I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000030394
Gene: ENSMUSG00000028642
AA Change: M130I

DomainStartEndE-ValueType
transmembrane domain 44 62 N/A INTRINSIC
transmembrane domain 69 88 N/A INTRINSIC
transmembrane domain 113 135 N/A INTRINSIC
transmembrane domain 169 191 N/A INTRINSIC
transmembrane domain 211 233 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132778
Predicted Effect probably benign
Transcript: ENSMUST00000212054
AA Change: M182I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A G 2: 128,629,729 L1472P probably damaging Het
BC005561 T A 5: 104,520,500 W963R probably damaging Het
Col18a1 C T 10: 77,070,975 V1151M probably damaging Het
Crmp1 A T 5: 37,276,313 D286V probably damaging Het
Ddx60 A T 8: 61,942,514 I162F probably damaging Het
Fam24b A T 7: 131,326,174 C95* probably null Het
Fsd1 A G 17: 55,988,245 Y78C probably damaging Het
Galc C T 12: 98,231,422 V343I probably benign Het
Glis2 C T 16: 4,611,650 R214C probably damaging Het
Gm14406 A T 2: 177,569,239 C416S probably damaging Het
Gm5724 A G 6: 141,754,429 S126P probably benign Het
Gnat3 T C 5: 18,003,828 S177P probably damaging Het
Higd1a C T 9: 121,849,683 G80D possibly damaging Het
Hp1bp3 T C 4: 138,240,629 V421A possibly damaging Het
Ipo11 A T 13: 106,897,259 F238L probably benign Het
Med26 A T 8: 72,495,874 F460L possibly damaging Het
Olfr1111 T A 2: 87,149,825 T279S possibly damaging Het
Osbp2 T C 11: 3,863,387 I161V probably benign Het
Prr5 T C 15: 84,699,655 V152A possibly damaging Het
Prx T A 7: 27,519,419 I1115K probably benign Het
Ptpn22 A G 3: 103,903,374 I708M probably benign Het
Robo3 T C 9: 37,429,551 T120A probably damaging Het
Setd2 C A 9: 110,547,513 S132* probably null Het
Slc9a1 A G 4: 133,422,143 E760G probably benign Het
Stx16 A T 2: 174,092,409 H135L probably damaging Het
Tas2r131 A T 6: 132,957,801 L15Q probably damaging Het
Tmcc1 A G 6: 116,043,027 L128P probably damaging Het
Tnfaip8l2 A G 3: 95,140,415 S46P probably damaging Het
Trim30c A G 7: 104,382,972 probably benign Het
Unc13a C T 8: 71,661,825 E184K probably benign Het
Wfs1 A T 5: 36,967,917 C467* probably null Het
Zfp78 G A 7: 6,375,588 G77D possibly damaging Het
Other mutations in Tmem269
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Tmem269 APN 4 119214141 missense probably benign
R1224:Tmem269 UTSW 4 119217126 missense probably benign 0.00
R1802:Tmem269 UTSW 4 119210873 critical splice donor site probably null
R4097:Tmem269 UTSW 4 119205780 missense probably damaging 0.98
R5721:Tmem269 UTSW 4 119209949 missense probably benign 0.00
R7053:Tmem269 UTSW 4 119209267 missense probably damaging 0.98
Posted On2013-06-28