Incidental Mutation 'R3843:Tmem55a'
ID277238
Institutional Source Beutler Lab
Gene Symbol Tmem55a
Ensembl Gene ENSMUSG00000028221
Gene Nametransmembrane protein 55A
Synonyms
MMRRC Submission 040783-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.195) question?
Stock #R3843 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location14864076-14915176 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 14886553 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 42 (Y42*)
Ref Sequence ENSEMBL: ENSMUSP00000029875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029875]
Predicted Effect probably null
Transcript: ENSMUST00000029875
AA Change: Y42*
SMART Domains Protein: ENSMUSP00000029875
Gene: ENSMUSG00000028221
AA Change: Y42*

DomainStartEndE-ValueType
Pfam:Tmemb_55A 6 250 1.1e-104 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (35/35)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,092,496 Y168* probably null Het
Amt C T 9: 108,297,221 R62C possibly damaging Het
Arid2 C T 15: 96,351,840 T145I possibly damaging Het
Ccdc8 T C 7: 16,995,114 V176A probably damaging Het
Cdhr1 G T 14: 37,084,927 F440L probably benign Het
Ckap2 A T 8: 22,175,758 N424K probably damaging Het
Col6a1 C T 10: 76,711,341 R730H unknown Het
Dennd1b C A 1: 139,053,354 P102Q probably damaging Het
E2f1 A G 2: 154,560,828 S340P probably benign Het
Eef1akmt2 C T 7: 132,831,576 V134I probably damaging Het
Elp3 A T 14: 65,565,483 probably null Het
Grap T G 11: 61,660,325 probably null Het
Heatr1 T C 13: 12,435,121 Y1999H probably benign Het
Hectd4 G T 5: 121,259,873 W288L possibly damaging Het
Hnf4g G A 3: 3,651,302 C262Y probably benign Het
Hrh4 A G 18: 13,022,286 Y294C possibly damaging Het
Igkv5-39 C A 6: 69,900,542 G77W probably damaging Het
Kdm2b A T 5: 122,934,793 Y341N probably damaging Het
Kif26b T C 1: 178,928,177 L1952P probably damaging Het
Lgr4 C T 2: 109,996,773 probably benign Het
Nlrc3 G A 16: 3,964,964 R194W probably benign Het
Nup214 T C 2: 32,051,100 F547L probably damaging Het
Olfr1032 A G 2: 86,008,204 I143V probably benign Het
Pdp1 T C 4: 11,961,961 K117E probably benign Het
Phtf2 G A 5: 20,774,022 A31V probably damaging Het
Pkhd1 A T 1: 20,558,723 C667S probably benign Het
Pnp2 T A 14: 50,963,421 L121Q probably null Het
Ppfia1 C T 7: 144,504,970 R698Q probably benign Het
Sidt1 A T 16: 44,284,224 F275I probably benign Het
Slc50a1 A T 3: 89,269,900 I70N probably damaging Het
Sytl2 C G 7: 90,360,159 T123R possibly damaging Het
Tlk1 T A 2: 70,749,327 T214S probably benign Het
Tmco3 A G 8: 13,296,114 probably benign Het
Trim71 T C 9: 114,515,846 T335A probably benign Het
Zfp651 T A 9: 121,763,433 V273E possibly 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
R1441:Tmem55a UTSW 4 14892477 missense possibly damaging 0.75
R1693:Tmem55a UTSW 4 14886631 missense probably benign 0.01
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'- TGCAGGAGACCTAAACCACTG -3'
(R):5'- GAACTCCCTTTAGAAATATGTCGTC -3'

Sequencing Primer
(F):5'- GGAGACCTAAACCACTGAATTTGCG -3'
(R):5'- CACTTAGTGACCCATGCTCTTTAATG -3'
Posted On2015-04-06