Incidental Mutation 'R5721:Tmem269'
ID 451435
Institutional Source Beutler Lab
Gene Symbol Tmem269
Ensembl Gene ENSMUSG00000028642
Gene Name transmembrane protein 269
Synonyms 4930538K18Rik
MMRRC Submission 043189-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R5721 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 119062252-119075414 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119067146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 146 (T146A)
Ref Sequence ENSEMBL: ENSMUSP00000148286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030394] [ENSMUST00000212054]
AlphaFold Q9D4Y8
Predicted Effect probably benign
Transcript: ENSMUST00000030394
AA Change: T94A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030394
Gene: ENSMUSG00000028642
AA Change: T94A

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: T146A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,844,798 (GRCm39) V30D probably damaging Het
Atl3 T A 19: 7,506,376 (GRCm39) M302K probably benign Het
Ccdc91 C G 6: 147,477,001 (GRCm39) L230V unknown Het
Ciz1 C T 2: 32,266,052 (GRCm39) T39I probably damaging Het
Cog8 T C 8: 107,776,780 (GRCm39) T532A probably benign Het
Ctsr C T 13: 61,309,667 (GRCm39) G181S possibly damaging Het
Drc7 T C 8: 95,800,961 (GRCm39) probably null Het
Dvl2 A G 11: 69,896,819 (GRCm39) R238G possibly damaging Het
Faf1 T C 4: 109,792,863 (GRCm39) F612L probably benign Het
Fbxo40 T A 16: 36,789,296 (GRCm39) M605L probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gprc6a A T 10: 51,491,076 (GRCm39) M716K probably benign Het
Greb1l G A 18: 10,542,427 (GRCm39) E1341K probably damaging Het
Ift70a1 A T 2: 75,811,715 (GRCm39) Y123N probably damaging Het
Jcad A T 18: 4,676,044 (GRCm39) T1269S possibly damaging Het
Kif23 C G 9: 61,851,498 (GRCm39) G66A probably benign Het
Lrrd1 T C 5: 3,900,619 (GRCm39) M308T probably benign Het
Lsg1 C T 16: 30,380,593 (GRCm39) A615T probably benign Het
Mcph1 G A 8: 18,721,223 (GRCm39) V684M probably damaging Het
Mpv17l T C 16: 13,764,658 (GRCm39) Y62H probably damaging Het
Or10a5 T C 7: 106,635,565 (GRCm39) S68P probably damaging Het
Or13d1 G T 4: 52,971,068 (GRCm39) W149L probably damaging Het
Osgepl1 A T 1: 53,360,359 (GRCm39) M362L possibly damaging Het
P2ry14 T C 3: 59,022,452 (GRCm39) probably null Het
Pacsin3 T A 2: 91,094,580 (GRCm39) C402S probably damaging Het
Papss2 A G 19: 32,638,064 (GRCm39) Y392C probably damaging Het
Plekha8 T A 6: 54,590,091 (GRCm39) W19R probably damaging Het
Prdm15 A T 16: 97,608,296 (GRCm39) I667N possibly damaging Het
Rab11fip2 A G 19: 59,924,042 (GRCm39) S279P probably damaging Het
Slc6a20b C A 9: 123,441,054 (GRCm39) G131C probably null Het
Suox T C 10: 128,507,162 (GRCm39) I289V possibly damaging Het
Tbc1d16 C T 11: 119,049,556 (GRCm39) probably null Het
Ttn G A 2: 76,558,911 (GRCm39) R29657W probably damaging Het
Vmn1r84 C A 7: 12,096,153 (GRCm39) C168F probably damaging Het
Zc3h7b T C 15: 81,657,499 (GRCm39) F180L probably benign Het
Zfand4 C G 6: 116,264,956 (GRCm39) D140E probably damaging Het
Other mutations in Tmem269
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Tmem269 APN 4 119,066,511 (GRCm39) missense probably benign 0.03
IGL02002:Tmem269 APN 4 119,071,338 (GRCm39) missense probably benign
R1224:Tmem269 UTSW 4 119,074,323 (GRCm39) missense probably benign 0.00
R1802:Tmem269 UTSW 4 119,068,070 (GRCm39) critical splice donor site probably null
R4097:Tmem269 UTSW 4 119,062,977 (GRCm39) missense probably damaging 0.98
R7053:Tmem269 UTSW 4 119,066,464 (GRCm39) missense probably damaging 0.98
R8844:Tmem269 UTSW 4 119,062,876 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGCTTCTCTTGTTTGGGGAAC -3'
(R):5'- CACACCTGTGCGTTAACCTTG -3'

Sequencing Primer
(F):5'- TGTGAAGCAAGGCTCCATAC -3'
(R):5'- GTTAACCTTGTCCTCCAAAGCAGG -3'
Posted On 2017-01-03