Incidental Mutation 'R1441:Tmem55a'
ID160993
Institutional Source Beutler Lab
Gene Symbol Tmem55a
Ensembl Gene ENSMUSG00000028221
Gene Nametransmembrane protein 55A
Synonyms
MMRRC Submission 039496-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.261) question?
Stock #R1441 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location14864076-14915176 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 14892477 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 114 (I114L)
Ref Sequence ENSEMBL: ENSMUSP00000029875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029875]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029875
AA Change: I114L

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029875
Gene: ENSMUSG00000028221
AA Change: I114L

DomainStartEndE-ValueType
Pfam:Tmemb_55A 6 250 1.1e-104 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TMEM55A 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 A T 8: 113,754,562 probably null Het
Ankrd16 T C 2: 11,778,746 L53P probably damaging Het
Arsk A T 13: 76,074,964 N171K probably benign Het
Brwd1 A C 16: 96,066,151 C161W probably damaging Het
Card9 T C 2: 26,359,390 N53S probably benign Het
Ccdc13 A T 9: 121,813,449 V403E probably benign Het
Ccdc83 T A 7: 90,244,143 E135D probably damaging Het
Ccser1 C T 6: 62,380,032 T818I probably benign Het
Cd44 T A 2: 102,846,418 T301S probably damaging Het
Eepd1 G A 9: 25,483,203 M254I probably benign Het
Ephb4 C T 5: 137,361,247 R360C probably damaging Het
Fam149a G T 8: 45,355,647 Q150K probably damaging Het
Fam208a T A 14: 27,464,260 C805* probably null Het
G6pc2 G A 2: 69,220,854 C97Y probably damaging Het
Gcsam T A 16: 45,613,038 M15K probably benign Het
Impdh2 C A 9: 108,564,776 T201K probably benign Het
Kdm2b C T 5: 122,932,880 E379K probably benign Het
Mcm3ap T C 10: 76,471,166 V371A probably benign Het
Mink1 T A 11: 70,607,114 N514K possibly damaging Het
Mmp12 C T 9: 7,354,787 P330L probably damaging Het
Mroh2a A G 1: 88,241,631 D676G possibly damaging Het
Myo1a C T 10: 127,719,279 P838L probably benign Het
Naip5 T C 13: 100,219,717 H1130R possibly damaging Het
Ninl C A 2: 150,971,124 G204V probably benign Het
Olfr1301 T C 2: 111,755,002 F251S probably damaging Het
Olfr202 G A 16: 59,283,865 L211F probably benign Het
Olfr235 T A 19: 12,268,386 L52* probably null Het
Olfr358 C A 2: 37,005,119 R165L possibly damaging Het
Olfr441 T C 6: 43,115,946 V68A probably benign Het
Olfr893 T C 9: 38,209,481 C141R probably damaging Het
Phactr4 G A 4: 132,377,248 T256I probably benign Het
Ptpn22 G T 3: 103,874,247 W114L probably damaging Het
Rasa1 C T 13: 85,252,421 probably null Het
Rbks C T 5: 31,659,997 V143I probably benign Het
Rbm19 T C 5: 120,131,176 F515L probably damaging Het
Ror1 A G 4: 100,440,983 T518A probably benign Het
Rpusd4 C A 9: 35,272,769 A240E probably damaging Het
Rufy3 T C 5: 88,632,515 L374P probably damaging Het
Sf3a3 T C 4: 124,725,142 S299P probably damaging Het
Slc7a12 T G 3: 14,497,354 S264A possibly damaging Het
Tm9sf1 T C 14: 55,636,325 Y572C probably damaging Het
Tpcn2 G A 7: 145,260,134 S475L probably benign Het
Trim17 A G 11: 58,965,192 D25G probably damaging Het
Ttn T A 2: 76,741,777 K26257N probably damaging Het
Txndc11 C A 16: 11,134,550 probably benign Het
Utrn A G 10: 12,683,295 S1405P probably damaging Het
Vmn2r58 G A 7: 41,837,440 T677I probably damaging Het
Other mutations in Tmem55a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01781:Tmem55a APN 4 14893566 missense probably damaging 0.97
IGL02100:Tmem55a APN 4 14893536 missense probably benign 0.03
R1693:Tmem55a UTSW 4 14886631 missense probably benign 0.01
R3843:Tmem55a UTSW 4 14886553 nonsense probably null
R3861:Tmem55a UTSW 4 14902506 missense probably damaging 0.98
R4372:Tmem55a UTSW 4 14912463 missense probably damaging 1.00
R4415:Tmem55a UTSW 4 14912463 missense probably damaging 1.00
R4927:Tmem55a UTSW 4 14912458 missense probably damaging 0.99
R7226:Tmem55a UTSW 4 14892464 missense probably damaging 0.99
R7466:Tmem55a UTSW 4 14912477 nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCCTGCTCTACACTCTGAAAAGACC -3'
(R):5'- TGTGGCATAGGCAATCAATCCCG -3'

Sequencing Primer
(F):5'- CAGTCCTTAAACTTCAAGTGCTCAG -3'
(R):5'- TCACTCGTGTAGCATACAAGG -3'
Posted On2014-03-14