Incidental Mutation 'IGL00743:Tmem52b'
ID14498
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem52b
Ensembl Gene ENSMUSG00000030160
Gene Nametransmembrane protein 52B
SynonymsD630042F21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL00743
Quality Score
Status
Chromosome6
Chromosomal Location129512555-129519227 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129516715 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 97 (D97G)
Ref Sequence ENSEMBL: ENSMUSP00000032263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032263] [ENSMUST00000204741]
Predicted Effect probably damaging
Transcript: ENSMUST00000032263
AA Change: D97G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032263
Gene: ENSMUSG00000030160
AA Change: D97G

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 T C 2: 150,619,686 E659G probably benign Het
Adgrg6 A C 10: 14,535,959 probably benign Het
Als2cl A G 9: 110,889,159 K323E possibly damaging Het
Atm A C 9: 53,513,116 S628R probably benign Het
Baz2a T C 10: 128,114,526 V443A probably benign Het
Bclaf3 T A X: 159,558,361 F545Y probably benign Het
Calcr T C 6: 3,717,196 Y88C probably damaging Het
Ccdc178 C T 18: 22,145,444 probably benign Het
Cdh20 A G 1: 104,947,428 T312A probably benign Het
Chrnd G A 1: 87,192,927 W91* probably null Het
Cntln T C 4: 84,979,415 F413S probably benign Het
Ctsq A T 13: 61,036,184 I308N probably damaging Het
Cyp2d34 A T 15: 82,617,535 V258D probably damaging Het
Dnajc13 G A 9: 104,162,780 P2044S probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hps6 A T 19: 46,003,660 D12V probably damaging Het
Hpse T C 5: 100,698,999 D188G probably benign Het
Id2 C A 12: 25,095,356 E123* probably null Het
Ints10 C T 8: 68,819,333 P562L probably damaging Het
Kctd10 G A 5: 114,367,349 R195C probably damaging Het
Kel A C 6: 41,688,575 L537R probably damaging Het
Kif19a T C 11: 114,784,773 V357A probably damaging Het
Lrrtm3 A T 10: 64,089,209 S60T probably damaging Het
Myof C A 19: 37,960,934 R608L probably benign Het
Naa35 A T 13: 59,630,671 I669F probably benign Het
Olfr968 A G 9: 39,772,111 S230P possibly damaging Het
Olfr971 A T 9: 39,839,706 I91F probably benign Het
Pclo G T 5: 14,678,021 probably benign Het
Pik3c3 C T 18: 30,274,364 S55F probably damaging Het
Prdm6 T G 18: 53,540,228 D153E possibly damaging Het
Rnf183 T C 4: 62,428,373 T63A probably benign Het
Samd4b A C 7: 28,401,877 I108S probably damaging Het
Slc9a7 T C X: 20,106,021 D708G possibly damaging Het
Stim2 A G 5: 54,053,493 D90G probably benign Het
Tnfsf15 T C 4: 63,734,281 R98G probably benign Het
Uxs1 C T 1: 43,757,013 V310I probably benign Het
Vcan A C 13: 89,725,306 M143R probably damaging Het
Vmn2r93 T C 17: 18,326,242 F792S probably damaging Het
Zfp455 T C 13: 67,207,898 I345T probably benign Het
Zfp938 A T 10: 82,226,483 M101K probably benign Het
Zkscan2 A G 7: 123,479,972 S921P probably damaging Het
Other mutations in Tmem52b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Tmem52b APN 6 129516741 missense probably damaging 1.00
R4475:Tmem52b UTSW 6 129514256 missense probably benign 0.01
R5249:Tmem52b UTSW 6 129514258 critical splice donor site probably null
R6815:Tmem52b UTSW 6 129516742 critical splice donor site probably null
R7238:Tmem52b UTSW 6 129516688 missense probably damaging 1.00
R7577:Tmem52b UTSW 6 129516077 nonsense probably null
R7791:Tmem52b UTSW 6 129513003 start gained probably benign
Posted On2012-12-06