Incidental Mutation 'IGL00792:Tmem52b'
ID 13534
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem52b
Ensembl Gene ENSMUSG00000030160
Gene Name transmembrane protein 52B
Synonyms D630042F21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL00792
Quality Score
Status
Chromosome 6
Chromosomal Location 129489518-129496190 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129493704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 106 (S106T)
Ref Sequence ENSEMBL: ENSMUSP00000032263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032263] [ENSMUST00000204741]
AlphaFold Q0VBF2
Predicted Effect probably damaging
Transcript: ENSMUST00000032263
AA Change: S106T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032263
Gene: ENSMUSG00000030160
AA Change: S106T

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:TMEM52 30 166 1.9e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204692
Predicted Effect probably benign
Transcript: ENSMUST00000204741
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,228,790 (GRCm39) I346V probably benign Het
Actl7a A T 4: 56,743,944 (GRCm39) Y157F possibly damaging Het
Adcy9 A G 16: 4,106,403 (GRCm39) F904L probably damaging Het
Ap1m1 A G 8: 73,009,599 (GRCm39) D369G possibly damaging Het
Atp23 A T 10: 126,736,969 (GRCm39) probably null Het
Atp5pd A G 11: 115,308,675 (GRCm39) probably null Het
Btf3l4 G A 4: 108,674,056 (GRCm39) S153L probably benign Het
Carf G T 1: 60,165,168 (GRCm39) V117L possibly damaging Het
Cntnap1 C A 11: 101,069,792 (GRCm39) N290K probably benign Het
Dgkb G A 12: 38,264,388 (GRCm39) probably null Het
Dmbt1 T A 7: 130,699,337 (GRCm39) C989S possibly damaging Het
Epb41l1 C T 2: 156,366,939 (GRCm39) R591C probably damaging Het
Fam219a A G 4: 41,521,684 (GRCm39) V74A probably benign Het
Frrs1 T A 3: 116,678,944 (GRCm39) probably null Het
Gm13547 A T 2: 29,653,417 (GRCm39) D85V probably damaging Het
Hipk1 G T 3: 103,685,476 (GRCm39) S46R possibly damaging Het
Ifih1 T A 2: 62,476,214 (GRCm39) R21W probably damaging Het
Ift43 A T 12: 86,186,840 (GRCm39) Q87L probably null Het
Itprid2 C T 2: 79,487,807 (GRCm39) A630V probably benign Het
Kcnn1 G A 8: 71,307,360 (GRCm39) L178F probably benign Het
Kel G T 6: 41,678,946 (GRCm39) N172K probably damaging Het
Krtap3-2 A T 11: 99,447,372 (GRCm39) Y85* probably null Het
Lrrc49 A G 9: 60,595,121 (GRCm39) S8P probably damaging Het
Med23 T C 10: 24,752,902 (GRCm39) I20T possibly damaging Het
Pde4d A G 13: 110,071,929 (GRCm39) K364E possibly damaging Het
Ppp2r3d T C 9: 101,088,500 (GRCm39) K608E possibly damaging Het
Robo4 C T 9: 37,319,507 (GRCm39) L586F probably damaging Het
Rprd2 A G 3: 95,692,416 (GRCm39) S191P probably benign Het
Samhd1 A T 2: 156,962,468 (GRCm39) H242Q probably damaging Het
Slc30a9 T A 5: 67,499,452 (GRCm39) N283K probably damaging Het
Slc4a9 T C 18: 36,672,649 (GRCm39) probably benign Het
Stk36 G T 1: 74,650,276 (GRCm39) L269F probably benign Het
Thop1 T A 10: 80,914,433 (GRCm39) L240* probably null Het
Ttn T A 2: 76,555,970 (GRCm39) D30345V probably damaging Het
Vtcn1 T C 3: 100,795,663 (GRCm39) V210A probably damaging Het
Zfp568 A G 7: 29,714,497 (GRCm39) R124G probably benign Het
Other mutations in Tmem52b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Tmem52b APN 6 129,493,678 (GRCm39) missense probably damaging 1.00
R4475:Tmem52b UTSW 6 129,491,219 (GRCm39) missense probably benign 0.01
R5249:Tmem52b UTSW 6 129,491,221 (GRCm39) critical splice donor site probably null
R6815:Tmem52b UTSW 6 129,493,705 (GRCm39) critical splice donor site probably null
R7238:Tmem52b UTSW 6 129,493,651 (GRCm39) missense probably damaging 1.00
R7577:Tmem52b UTSW 6 129,493,040 (GRCm39) nonsense probably null
R7791:Tmem52b UTSW 6 129,489,966 (GRCm39) start gained probably benign
Posted On 2012-12-06