Incidental Mutation 'IGL02310:Tmem55b'
ID287767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem55b
Ensembl Gene ENSMUSG00000035953
Gene Nametransmembrane protein 55b
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.341) question?
Stock #IGL02310
Quality Score
Status
Chromosome14
Chromosomal Location50926068-50930856 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 50929210 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 187 (T187A)
Ref Sequence ENSEMBL: ENSMUSP00000124259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006452] [ENSMUST00000049312] [ENSMUST00000049411] [ENSMUST00000128395] [ENSMUST00000136753] [ENSMUST00000154288] [ENSMUST00000159292] [ENSMUST00000160375] [ENSMUST00000160393] [ENSMUST00000160538] [ENSMUST00000160835] [ENSMUST00000160890] [ENSMUST00000161166] [ENSMUST00000162177] [ENSMUST00000162957] [ENSMUST00000226871]
Predicted Effect probably benign
Transcript: ENSMUST00000006452
SMART Domains Protein: ENSMUSP00000006452
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 186 1.1e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049312
AA Change: T180A

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000038276
Gene: ENSMUSG00000035953
AA Change: T180A

DomainStartEndE-ValueType
Pfam:Tmemb_55A 1 270 9.8e-132 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049411
SMART Domains Protein: ENSMUSP00000042602
Gene: ENSMUSG00000035960

DomainStartEndE-ValueType
low complexity region 14 40 N/A INTRINSIC
Pfam:Exo_endo_phos 64 308 1.5e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128395
SMART Domains Protein: ENSMUSP00000116319
Gene: ENSMUSG00000035960

DomainStartEndE-ValueType
low complexity region 9 35 N/A INTRINSIC
Pfam:Exo_endo_phos 59 280 2.3e-24 PFAM
Pfam:Exo_endo_phos_2 138 284 4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136753
SMART Domains Protein: ENSMUSP00000123148
Gene: ENSMUSG00000035960

DomainStartEndE-ValueType
low complexity region 14 40 N/A INTRINSIC
Pfam:Exo_endo_phos 64 177 3.8e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154288
SMART Domains Protein: ENSMUSP00000122343
Gene: ENSMUSG00000035960

DomainStartEndE-ValueType
low complexity region 14 40 N/A INTRINSIC
Pfam:Exo_endo_phos 64 214 1.1e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159047
Predicted Effect probably benign
Transcript: ENSMUST00000159292
SMART Domains Protein: ENSMUSP00000124039
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 301 3.6e-90 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159745
Predicted Effect probably benign
Transcript: ENSMUST00000160375
SMART Domains Protein: ENSMUSP00000124099
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 1 156 1.3e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160393
SMART Domains Protein: ENSMUSP00000125155
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 301 3.6e-90 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160464
Predicted Effect possibly damaging
Transcript: ENSMUST00000160538
AA Change: T187A

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124259
Gene: ENSMUSG00000035953
AA Change: T187A

DomainStartEndE-ValueType
Pfam:Tmemb_55A 1 197 1.9e-82 PFAM
low complexity region 221 235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160835
AA Change: T187A

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124782
Gene: ENSMUSG00000035953
AA Change: T187A

DomainStartEndE-ValueType
Pfam:Tmemb_55A 4 277 2.8e-129 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160890
SMART Domains Protein: ENSMUSP00000124659
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 79 1.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161166
SMART Domains Protein: ENSMUSP00000125414
Gene: ENSMUSG00000035953

DomainStartEndE-ValueType
Pfam:Tmemb_55A 1 168 3.6e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161669
Predicted Effect probably benign
Transcript: ENSMUST00000162177
SMART Domains Protein: ENSMUSP00000124016
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 1 220 1.1e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162935
Predicted Effect probably benign
Transcript: ENSMUST00000162957
SMART Domains Protein: ENSMUSP00000123697
Gene: ENSMUSG00000035953

DomainStartEndE-ValueType
Pfam:Tmemb_55A 1 174 2.9e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163043
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163088
Predicted Effect probably benign
Transcript: ENSMUST00000226871
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik A G 9: 22,424,428 Y114C probably benign Het
Ano4 T A 10: 89,023,878 K382* probably null Het
Bcl9l A G 9: 44,509,305 Y1299C probably damaging Het
Best1 T A 19: 9,989,152 H357L probably benign Het
Cdc26 T C 4: 62,395,029 probably benign Het
Esyt2 C T 12: 116,365,921 L700F probably benign Het
Fkbp15 T C 4: 62,340,316 Y138C probably damaging Het
Gbp6 T C 5: 105,290,975 N16D probably benign Het
Gm44805 A G 7: 19,671,763 *98Q probably null Het
Hecw2 T C 1: 53,923,916 D812G probably null Het
Hic2 G A 16: 17,257,757 R150Q probably damaging Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Klhl36 T A 8: 119,869,617 probably null Het
Mug2 C T 6: 122,059,123 probably benign Het
Olfr1410 T C 1: 92,608,065 V76A possibly damaging Het
Pdcl2 A T 5: 76,317,881 I116N probably damaging Het
Pkn2 A G 3: 142,811,580 I482T probably damaging Het
Prss53 T G 7: 127,886,614 D518A probably benign Het
Psme4 A G 11: 30,837,484 D1093G probably benign Het
Tmcc2 A T 1: 132,358,907 I602N probably damaging Het
Ttn C T 2: 76,788,691 V16115I possibly damaging Het
Zbtb21 G T 16: 97,951,790 T459K possibly damaging Het
Other mutations in Tmem55b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0016:Tmem55b UTSW 14 50928894 missense probably damaging 1.00
R0885:Tmem55b UTSW 14 50930306 missense probably damaging 1.00
R2483:Tmem55b UTSW 14 50930292 missense probably damaging 1.00
R2509:Tmem55b UTSW 14 50929658 nonsense probably null
R4202:Tmem55b UTSW 14 50930655 missense probably damaging 0.97
R4992:Tmem55b UTSW 14 50929233 missense probably damaging 0.98
R5381:Tmem55b UTSW 14 50929038 missense probably benign 0.00
R5629:Tmem55b UTSW 14 50927916 missense probably benign 0.05
R5844:Tmem55b UTSW 14 50929042 missense probably benign 0.03
R5865:Tmem55b UTSW 14 50928875 unclassified probably benign
R7177:Tmem55b UTSW 14 50930177 missense possibly damaging 0.65
R7732:Tmem55b UTSW 14 50930633 missense possibly damaging 0.69
Posted On2015-04-16