Incidental Mutation 'IGL00574:Tmem147'
ID6290
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem147
Ensembl Gene ENSMUSG00000006315
Gene Nametransmembrane protein 147
Synonyms5033425B17Rik, 2010004E11Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.387) question?
Stock #IGL00574
Quality Score
Status
Chromosome7
Chromosomal Location30727701-30729540 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 30728433 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 66 (R66*)
Ref Sequence ENSEMBL: ENSMUSP00000146918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005692] [ENSMUST00000006478] [ENSMUST00000074758] [ENSMUST00000170371] [ENSMUST00000182067] [ENSMUST00000182634] [ENSMUST00000207263] [ENSMUST00000207296] [ENSMUST00000207779] [ENSMUST00000208169] [ENSMUST00000209065]
Predicted Effect probably benign
Transcript: ENSMUST00000005692
SMART Domains Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553

DomainStartEndE-ValueType
Pfam:H-K_ATPase_N 2 42 5.4e-23 PFAM
Cation_ATPase_N 52 126 2.26e-18 SMART
Pfam:E1-E2_ATPase 144 375 1.1e-57 PFAM
Pfam:Hydrolase 380 739 5.3e-16 PFAM
Pfam:HAD 383 736 1.9e-18 PFAM
Pfam:Cation_ATPase 436 531 1.6e-24 PFAM
Pfam:Cation_ATPase_C 809 1019 4.8e-43 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000006478
AA Change: R115*
SMART Domains Protein: ENSMUSP00000006478
Gene: ENSMUSG00000006315
AA Change: R115*

DomainStartEndE-ValueType
Pfam:DUF2053 2 158 3.1e-69 PFAM
transmembrane domain 168 190 N/A INTRINSIC
transmembrane domain 197 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074758
SMART Domains Protein: ENSMUSP00000074317
Gene: ENSMUSG00000061099

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
Gp_dh_N 106 254 6.13e-79 SMART
Pfam:Gp_dh_C 259 416 2.3e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165410
Predicted Effect probably benign
Transcript: ENSMUST00000170371
SMART Domains Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553

DomainStartEndE-ValueType
Pfam:H-K_ATPase_N 2 42 4.9e-28 PFAM
Cation_ATPase_N 52 126 2.26e-18 SMART
Pfam:E1-E2_ATPase 145 376 1e-62 PFAM
Pfam:Hydrolase 380 730 9.3e-25 PFAM
Pfam:HAD 383 727 2.1e-15 PFAM
Pfam:Hydrolase_like2 436 531 4e-25 PFAM
Pfam:Cation_ATPase_C 800 1010 1.5e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180820
SMART Domains Protein: ENSMUSP00000137757
Gene: ENSMUSG00000097320

DomainStartEndE-ValueType
SCOP:d1i7oa2 53 93 5e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182067
SMART Domains Protein: ENSMUSP00000138697
Gene: ENSMUSG00000061099

DomainStartEndE-ValueType
PDB:2VYV|D 1 44 3e-15 PDB
Blast:Gp_dh_N 4 33 9e-7 BLAST
SCOP:d1cf2o2 9 45 3e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182634
SMART Domains Protein: ENSMUSP00000138634
Gene: ENSMUSG00000061099

DomainStartEndE-ValueType
low complexity region 21 48 N/A INTRINSIC
Gp_dh_N 108 256 6.13e-79 SMART
Pfam:Gp_dh_C 261 418 4.4e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183194
Predicted Effect probably benign
Transcript: ENSMUST00000207263
Predicted Effect probably null
Transcript: ENSMUST00000207296
AA Change: R115*
Predicted Effect probably benign
Transcript: ENSMUST00000207779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207955
Predicted Effect probably benign
Transcript: ENSMUST00000208169
Predicted Effect probably null
Transcript: ENSMUST00000209065
AA Change: R66*
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 T C 1: 125,411,274 Y109C probably damaging Het
Agap3 T A 5: 24,498,109 L568Q probably damaging Het
AI481877 T A 4: 59,094,201 R174S possibly damaging Het
Baiap2 T C 11: 120,006,408 S530P probably damaging Het
Bmpr1a T C 14: 34,434,419 I164V probably benign Het
Btaf1 A G 19: 36,969,930 N473S probably benign Het
Egr4 T C 6: 85,512,505 D191G probably damaging Het
Eprs G T 1: 185,407,148 C910F probably benign Het
Grk4 T A 5: 34,694,818 N135K probably benign Het
Hectd1 T C 12: 51,774,004 N1134S probably benign Het
Macrod2 T G 2: 140,400,877 M21R probably damaging Het
Mtx3 G T 13: 92,847,876 Q188H possibly damaging Het
Otx1 T C 11: 21,996,794 probably benign Het
Pcdhb8 T G 18: 37,356,370 F26C probably damaging Het
Pdgfra T A 5: 75,181,047 I647K probably damaging Het
Psapl1 C A 5: 36,205,631 N522K probably benign Het
Rbm10 T A X: 20,650,692 probably benign Het
Rbm10 G A X: 20,650,693 probably benign Het
Ric1 A G 19: 29,595,362 E734G probably damaging Het
Sec24c T C 14: 20,692,395 V837A probably damaging Het
Sohlh2 C T 3: 55,204,326 probably benign Het
Tex10 G A 4: 48,469,937 Q43* probably null Het
Tmem150c G T 5: 100,092,951 H51N probably benign Het
Usp47 A T 7: 112,063,335 K228M probably damaging Het
Other mutations in Tmem147
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02491:Tmem147 APN 7 30728201 splice site probably benign
IGL02971:Tmem147 APN 7 30729422 unclassified probably benign
R0070:Tmem147 UTSW 7 30728101 missense probably damaging 1.00
R0609:Tmem147 UTSW 7 30728102 missense probably benign 0.03
R1167:Tmem147 UTSW 7 30727796 missense probably benign 0.33
R1254:Tmem147 UTSW 7 30729370 nonsense probably null
R5983:Tmem147 UTSW 7 30728059 missense probably damaging 1.00
R6072:Tmem147 UTSW 7 30728020 missense possibly damaging 0.56
R7705:Tmem147 UTSW 7 30728291 critical splice acceptor site probably null
Posted On2012-04-20