Incidental Mutation 'IGL02471:Tmem54'
ID294740
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem54
Ensembl Gene ENSMUSG00000028786
Gene Nametransmembrane protein 54
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL02471
Quality Score
Status
Chromosome4
Chromosomal Location129105548-129111626 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129108318 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 53 (M53V)
Ref Sequence ENSEMBL: ENSMUSP00000123006 (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
AA Change: M42V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030575
Gene: ENSMUSG00000028786
AA Change: M42V

DomainStartEndE-ValueType
Pfam:BCLP 18 71 2.8e-23 PFAM
Pfam:BCLP 69 180 1.4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000030577
AA Change: M42V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030577
Gene: ENSMUSG00000028786
AA Change: M42V

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: M42V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101679
Gene: ENSMUSG00000028786
AA Change: M42V

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
AA Change: M53V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000123006
Gene: ENSMUSG00000028786
AA Change: M53V

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,258,198 H2378N probably benign Het
Btaf1 C A 19: 37,000,192 A1470E probably damaging Het
Ccdc110 A G 8: 45,941,756 D228G probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cldn18 T C 9: 99,696,075 D205G probably benign Het
Clip2 T C 5: 134,518,022 T231A probably benign Het
Cltc A G 11: 86,718,034 V723A probably damaging Het
Cpa3 C T 3: 20,228,807 probably null Het
Cyfip2 T G 11: 46,200,803 T1097P possibly damaging Het
Dnah9 T A 11: 65,947,618 R667* probably null Het
Dock10 T C 1: 80,515,622 E1878G probably damaging Het
Ermap G A 4: 119,179,963 H353Y probably damaging Het
Etfa A T 9: 55,486,700 probably null Het
F5 C T 1: 164,174,291 P188S probably damaging Het
Foxq1 G A 13: 31,559,343 E143K possibly damaging Het
Gsr C T 8: 33,682,584 probably benign Het
Hebp1 T A 6: 135,155,276 Y31F probably benign Het
Ighv1-14 T C 12: 114,646,837 noncoding transcript Het
Lamb1 T A 12: 31,320,908 D1319E probably damaging Het
Lrp5 A T 19: 3,602,408 V1154E probably benign Het
Manba G A 3: 135,507,008 probably benign Het
Mknk2 A T 10: 80,668,121 F319I probably damaging Het
Mup6 A T 4: 60,003,971 probably benign Het
Nalcn T C 14: 123,323,314 T784A probably benign Het
Nt5dc1 T C 10: 34,403,725 E107G probably benign Het
Olfr1497 G A 19: 13,795,225 P129S probably damaging Het
Olfr688 T A 7: 105,289,045 F317L probably benign Het
Olfr745 A T 14: 50,642,757 I159F probably benign Het
Phldb1 T C 9: 44,711,233 E41G probably damaging Het
Ptk2 T C 15: 73,298,187 D309G probably benign Het
Rab11fip5 A G 6: 85,348,225 S367P probably damaging Het
Rb1cc1 T A 1: 6,240,051 N224K probably benign Het
Rchy1 A T 5: 91,957,546 C65* probably null Het
Rgs18 T C 1: 144,774,621 D56G probably benign Het
Rtraf A C 14: 19,812,228 L197R probably damaging Het
Slc44a5 G T 3: 154,256,576 W382L probably damaging Het
Snx24 C T 18: 53,385,169 probably benign Het
Sphkap T C 1: 83,276,176 D1284G probably damaging Het
Trip6 G A 5: 137,310,356 P414S probably benign Het
Vmn1r38 A G 6: 66,776,767 Y122H probably benign Het
Wapl T A 14: 34,691,920 N246K possibly damaging Het
Zfp12 G A 5: 143,244,796 G293R probably damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp446 T G 7: 12,982,254 V209G probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Tmem54
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6699:Tmem54 UTSW 4 129111325 missense probably benign 0.07
R7037:Tmem54 UTSW 4 129110801 splice site probably null
Posted On2015-04-16