Incidental Mutation 'IGL01073:Tmem203'
ID50423
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem203
Ensembl Gene ENSMUSG00000078201
Gene Nametransmembrane protein 203
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01073
Quality Score
Status
Chromosome2
Chromosomal Location25255439-25256292 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 25255724 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 19 (I19L)
Ref Sequence ENSEMBL: ENSMUSP00000100614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100329] [ENSMUST00000104998] [ENSMUST00000114349] [ENSMUST00000132128] [ENSMUST00000147866] [ENSMUST00000148589] [ENSMUST00000228052]
Predicted Effect probably benign
Transcript: ENSMUST00000100329
SMART Domains Protein: ENSMUSP00000097903
Gene: ENSMUSG00000006471

DomainStartEndE-ValueType
Pfam:Flavodoxin_1 8 124 2.3e-23 PFAM
Pfam:FAD_binding_1 134 354 8e-50 PFAM
Pfam:NAD_binding_1 389 495 2.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000104998
AA Change: I19L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100614
Gene: ENSMUSG00000078201
AA Change: I19L

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 79 101 N/A INTRINSIC
transmembrane domain 111 130 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114349
SMART Domains Protein: ENSMUSP00000109989
Gene: ENSMUSG00000006471

DomainStartEndE-ValueType
Pfam:Flavodoxin_1 8 145 2.3e-32 PFAM
Pfam:FAD_binding_1 201 421 2e-48 PFAM
Pfam:NAD_binding_1 456 561 1.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132128
SMART Domains Protein: ENSMUSP00000125018
Gene: ENSMUSG00000006471

DomainStartEndE-ValueType
PDB:4H2D|B 1 48 2e-9 PDB
SCOP:d1f4pa_ 4 57 4e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137355
Predicted Effect probably benign
Transcript: ENSMUST00000141808
SMART Domains Protein: ENSMUSP00000123247
Gene: ENSMUSG00000006471

DomainStartEndE-ValueType
Pfam:Flavodoxin_1 7 120 8.1e-25 PFAM
Pfam:FAD_binding_1 167 225 9.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147866
SMART Domains Protein: ENSMUSP00000125259
Gene: ENSMUSG00000006471

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
low complexity region 64 73 N/A INTRINSIC
Pfam:Flavodoxin_1 93 196 4.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148589
SMART Domains Protein: ENSMUSP00000123958
Gene: ENSMUSG00000006471

DomainStartEndE-ValueType
PDB:4H2D|B 1 49 7e-10 PDB
SCOP:d1f4pa_ 4 45 3e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000228052
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body weight, abnormal calcium homeostasis, arreasted spermiation, azoospermia, male infertility and reduced total litter numbers in female mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd24 A G 10: 81,639,322 D110G possibly damaging Het
Ccnd3 A G 17: 47,594,845 T104A probably benign Het
Cntnap5b A T 1: 100,076,030 D245V probably benign Het
Cryab A G 9: 50,754,555 K82R probably damaging Het
Dnmt3b G A 2: 153,670,842 probably benign Het
Eif2b5 A T 16: 20,500,296 K99* probably null Het
Fam222b A G 11: 78,154,488 I292V probably damaging Het
Itpr1 A C 6: 108,413,820 N1560T probably benign Het
Lca5 T A 9: 83,395,475 K605N probably damaging Het
Letm1 T C 5: 33,748,800 D424G possibly damaging Het
Mtif3 C A 5: 146,958,980 R99L probably damaging Het
Nrxn3 A G 12: 89,254,740 M430V probably benign Het
Olfr1226 A T 2: 89,193,137 L299Q possibly damaging Het
Pgap2 T A 7: 102,226,454 probably benign Het
Phf11c A T 14: 59,389,348 S129T probably benign Het
Ptpro A G 6: 137,377,088 N154S probably damaging Het
Rfng C T 11: 120,783,921 R81H probably benign Het
Rnf38 A G 4: 44,137,645 M280T probably benign Het
Rrp7a G A 15: 83,118,081 A185V probably benign Het
Slc22a2 C A 17: 12,584,349 F23L probably benign Het
Slc35f1 A G 10: 53,021,960 T156A probably benign Het
Slfn1 A T 11: 83,121,337 Y93F probably benign Het
Snrnp200 A T 2: 127,214,912 probably benign Het
Sos1 A G 17: 80,422,747 F701S probably damaging Het
Usp8 A T 2: 126,718,114 K18N probably damaging Het
Vmn2r115 G A 17: 23,345,997 R286K probably benign Het
Vmn2r23 A C 6: 123,712,800 T212P possibly damaging Het
Other mutations in Tmem203
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1794:Tmem203 UTSW 2 25255994 missense probably benign
R3827:Tmem203 UTSW 2 25256006 missense possibly damaging 0.53
R3897:Tmem203 UTSW 2 25255923 missense probably benign 0.17
R4747:Tmem203 UTSW 2 25255752 missense probably benign 0.01
R5735:Tmem203 UTSW 2 25256073 missense probably benign 0.10
R6627:Tmem203 UTSW 2 25255773 splice site probably null
R7555:Tmem203 UTSW 2 25255730 missense probably benign 0.05
Posted On2013-06-21