Incidental Mutation 'R6699:Tmem54'
ID528678
Institutional Source Beutler Lab
Gene Symbol Tmem54
Ensembl Gene ENSMUSG00000028786
Gene Nametransmembrane protein 54
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R6699 (G1)
Quality Score225.009
Status Validated
Chromosome4
Chromosomal Location129105548-129111626 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129111325 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 199 (I199M)
Ref Sequence ENSEMBL: ENSMUSP00000101679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030572] [ENSMUST00000030575] [ENSMUST00000030577] [ENSMUST00000095807] [ENSMUST00000106064] [ENSMUST00000116442] [ENSMUST00000116444] [ENSMUST00000125931] [ENSMUST00000139450] [ENSMUST00000148979] [ENSMUST00000149763] [ENSMUST00000164649]
Predicted Effect probably benign
Transcript: ENSMUST00000030572
SMART Domains Protein: ENSMUSP00000030572
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000030575
SMART Domains Protein: ENSMUSP00000030575
Gene: ENSMUSG00000028786

DomainStartEndE-ValueType
Pfam:BCLP 18 71 2.8e-23 PFAM
Pfam:BCLP 69 180 1.4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000030577
SMART Domains Protein: ENSMUSP00000030577
Gene: ENSMUSG00000028786

DomainStartEndE-ValueType
Pfam:BCLP 18 200 5e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095807
SMART Domains Protein: ENSMUSP00000093486
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106064
AA Change: I199M

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000101679
Gene: ENSMUSG00000028786
AA Change: I199M

DomainStartEndE-ValueType
Pfam:BCLP 18 199 6.7e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116442
SMART Domains Protein: ENSMUSP00000112143
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116444
SMART Domains Protein: ENSMUSP00000112145
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125931
SMART Domains Protein: ENSMUSP00000115031
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139450
SMART Domains Protein: ENSMUSP00000119178
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148979
SMART Domains Protein: ENSMUSP00000123006
Gene: ENSMUSG00000028786

DomainStartEndE-ValueType
Pfam:BCLP 29 106 3.2e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149763
SMART Domains Protein: ENSMUSP00000115619
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164649
SMART Domains Protein: ENSMUSP00000129548
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A G 7: 28,144,368 T894A probably damaging Het
Adam39 A G 8: 40,826,657 K695R probably benign Het
Agfg1 G A 1: 82,858,454 probably null Het
Ankrd44 G A 1: 54,762,445 T241I probably damaging Het
Car15 T C 16: 17,836,574 D166G probably null Het
Cpne2 G A 8: 94,563,959 V391M probably damaging Het
Ddx27 C T 2: 167,020,503 T155I possibly damaging Het
F830045P16Rik T C 2: 129,460,421 D417G probably damaging Het
Fam217b T G 2: 178,420,417 M58R probably benign Het
Ftmt T C 18: 52,331,665 S18P possibly damaging Het
Gm16494 C T 17: 47,016,908 V17M probably damaging Het
Gm36864 A T 7: 44,238,772 I342F possibly damaging Het
Grid2 C G 6: 63,931,047 R224G possibly damaging Het
Hist1h4k A T 13: 21,750,504 M1K probably null Het
Hmgcr T C 13: 96,660,209 E191G probably damaging Het
Hrc A G 7: 45,335,695 D90G possibly damaging Het
Kbtbd7 A G 14: 79,428,192 E488G probably benign Het
Krtap26-1 T C 16: 88,647,715 N6S unknown Het
Mgat2 A G 12: 69,184,781 D43G probably damaging Het
Mrps30 A T 13: 118,380,598 S362T probably damaging Het
Olfr1124 A T 2: 87,434,816 I110F probably benign Het
Olfr224 T A 11: 58,567,205 I47L possibly damaging Het
Pcdhb11 T A 18: 37,422,937 V440E probably damaging Het
Pcdhb18 T A 18: 37,491,952 H778Q probably benign Het
Plekha7 T C 7: 116,135,175 E1025G probably damaging Het
Rnf39 T C 17: 36,947,229 W96R probably damaging Het
Rph3al A T 11: 75,900,837 probably benign Het
Rrm1 T A 7: 102,460,825 Y556N probably damaging Het
Saal1 A T 7: 46,692,817 C401S probably damaging Het
Sec14l3 T C 11: 4,075,193 S268P possibly damaging Het
Tomm70a A G 16: 57,142,802 M395V probably benign Het
Topors A G 4: 40,262,300 V328A probably damaging Het
Vmn2r61 T G 7: 42,300,156 S667A probably benign Het
Vmn2r68 G A 7: 85,232,375 A499V possibly damaging Het
Zcchc14 A T 8: 121,608,616 probably benign Het
Other mutations in Tmem54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02471:Tmem54 APN 4 129108318 missense probably benign 0.00
IGL02475:Tmem54 APN 4 129108280 missense probably damaging 1.00
IGL03107:Tmem54 APN 4 129110912 missense probably damaging 1.00
R3804:Tmem54 UTSW 4 129108220 missense probably benign 0.01
R4156:Tmem54 UTSW 4 129110711 missense probably damaging 1.00
R4157:Tmem54 UTSW 4 129110711 missense probably damaging 1.00
R4664:Tmem54 UTSW 4 129110911 missense possibly damaging 0.95
R4959:Tmem54 UTSW 4 129108280 missense probably damaging 1.00
R7037:Tmem54 UTSW 4 129110801 splice site probably null
Predicted Primers PCR Primer
(F):5'- TGAGGAGAAGCACTGGTCTTTG -3'
(R):5'- ACGTCCCCAGTAGTCCATTG -3'

Sequencing Primer
(F):5'- TCTTTGGGGATTATACAGGAGACAG -3'
(R):5'- CATGGGCGTGCTCTAGGAATC -3'
Posted On2018-07-24